The use of various kinds of milk during infancy in different socioeconomic groups.


The County of Los Angeles Health Department youth clinics.


Studies on rumen metabolism. VII. Effect of lipids (in vitro) on the digestion of grass fibre and cellulose.


Susceptibility of hypertensive rats to a new hypotensive agent, ST-155 (catapres): 2-(2,6-dichorophenylamino)-2-imidazoline hydrochloride.


Clinical studies on the role of aldosterone concerning the edema formation in chronic congestive heart failure.


Iron-fortified formulas for infants.

Iron-fortified formulas for infants.


Transitional-cell cloacogenic carcinoma of the perianal region, anal canal, and rectum: report of seven cases.


Parapsoriasis guttata.

Parapsoriasis guttata.


Estrogens in breast tumors.

Estrogens in breast tumors.


Venereal disease detection in the female patient.


Mirror, mirror upon the wall.

Mirror, mirror upon the wall.


Induction of delayed or advanced ovulation by estrogen in 4-day cyclic rat.


Acute effect of hypothalamic deafferentation on progesterone-induced ovulating hormone release in the rats.


Effects of methylthiouracil on thyroglobulin formation. Sialic acid content of iodine-poor thyroglobulin.


Effect of starvation on synthesis and release of growth hormone and prolactin in the rat anterior pituitary.


Alterations of ovarian 4-pregnen-20 -ol-3-one and adrenal corticosterone at various times after hypophysectomy, and the ovarian response to exogenous pituitary gonadotropin.


[Synthesis of epidermal specific proteins selectively stimulated by hydrocortisone in the chick embryonic skin growing in a chemically defined medium].


Species difference in plasma insulin responses to intravenous xylitol in man and several mammals.


Effect of renal injury on the activity of enzymes preferentially hydrolyzing parathyroid hormone.


Chlorpromazine inhibition of dehydration-induced histological changes in the hypothalamic neurosecretory system of the musk shrew, Suncus murinus L.


Effects of xylitol and glucose on insulin release from dog pancreas tissue in vitro.


3 H-leucine uptake of hypothalamic nuclei in fetal male rats and its fluctuation after castration.


A stereological description of size and number of zona fasciculata mitochondria in rat adrenal cortex after hypophysectomy.


Purification of the A protein of human milk lactose synthetase and identification as a glycoprotein.


Recurrent abdominal pain due to milk and lactose intolerance in school-aged children.


Committee on Fetus and Newborn. Oxygen therapy in the newborn infant.


Changes of elastic fibers in the uterine wall during pregnancy and after parturition.


Morphological studies on the suture palatina.


Effects of acute and protracted ionizing radiation on the rabbit lens.


The effect of pulsed ruby laser on retinal pigment epithelium in vitro.


Significance of subretinal absorption for effectiveness of buckling operations.


The sagittal growth of the eye. IV. Ultrasonic measurement of the axial length of the eye from birth to puberty.


Iris pigment defects in normals.

Iris pigment defects in normals.


Iris pigment defects in uveitis.

Iris pigment defects in uveitis.


Dynamic tonometry in carotid occlusive disease.


A new goniolens for corneal indentation gonioscopy.


The action of morphine on the cat choledochoduodenal tract.


Determination of dextropropoxyphene in organs from fatal poisoning.


On the mechanism of amphetamine induced release of reserpine-resistant  3 H-noradrenaline and  3 H- -methylnoradrenaline.


Rupture of the imidazole ring of histamine and N-acetylhistamine by human intestinal contents.


Inhibition of choline acetyltransferase by 2-dimethylaminoethyl chloroacetate and related compounds.


3,4-Benzpyrene and N-methylaniline metabolizing enzymes in the immature human foetus and placenta.


Effect of partial liver resection and phenobarbital on the restoration of impaired drug metabolism in carbon tetrachloride induced liver damage.


The effects of acetaldehyde on the mechanical and electrical properties of the isolated heart from normal and disulfiram-treated guinea-pigs.


The effect of acetaldehyde on the noradrenaline content in the isolated heart from normal and disulfiram-treated guinea-pigs.


Studies on the mode of action of acetaldehyde on the isolated guinea-pig heart.


Changes in rat atrial action potentials induced by promazine and thioridazine.


A highly sensitive method for gas chromatographic measurement of tetrahydrocannabinol (THC) and cannabinol (CBN).


Studies of the metabolism of myelin basic proteins in various regions of the central nervous system of immature and adult rats.


The fermentation production of erythromycin by Streptomyces erythreus.


Studies in aerobic cellulose-decomposing bacteria. II. Isolation and distribution in the soils of Egypt.


Studies in aerobic cellulose-decomposing bacteria. 3. The cellulolytic activity of Egyptian soils.


Removal of toxic seed diffusates by activated charcoal.


The effect of seed disinfection with systemic preparations Vitavax and Plantvax on respiration activity and on catalase in barley.


Chemical interaction between monoamineoxidase inhibitors and alloxan.


Effect of human menopausal gonadotropins on the testes of the adult hypophysectomized rat.


Studies on fetal heart rate changes related to the conditions of fetus and newborn. 2. Evaluation of fetal condition during labor by the quantitative analysis of cardiotachogram.


Studies on behavior of urinary FSH and LH in various anovulatory diseases.


A new schedule for the therapeutic diagnosis of anovulatory conditions and its five years' experiences.


Influence of estriol on the onset of labor.


A study of synthesis and secretion of HCG in trophoblastic culture.


Studies on the blastogenic activity of lymphocytes during pregnancy. Preliminary report.


Chromosome abnormalities in AKR-TiALD leukaemias.


The effect of I-(morpholinomethyl)-4-phtalimido-piperidindione-2,6 and drostanolone propionate on the plasma prolactin concentration of oestrone-treated orchidectomized R-Amsterdam rats.


Hemolytic anemia associated with thymoma in the rabbit. Genetic studies and pathological findings.


A longitudinal study on dietary and social influences on riboflavin status in pre-school children in northeast Thailand.


Repository treatment in house dust allergy.


Histamine-induced bronchospasm in unanesthetized guinea-pigs. I. Aerosol technique.


Histology of the salivary gland of two leukotic cats.


Congenital goiter found in a district of Omuro, Kochi, Shikoku, Japan: morphological study.


Plasma renin activity in renovascular hypertension.


Pharmacological and electrophysiological actions of proscillaridin A. The mechanism of bigeminal rhythm induced by its toxic dosage studied by the change of the transmembrane action potential.


Hematological studies on the spontaneously hypertensive rats with special reference to the development of thrombosis.


A study on the pulmonary functions and the pulmonary circulation in cardio-pulmonary diseases. II. Pulmonary capillary blood flow and pulmonary capillary mean transit time in cardio-pulmonary diseases.


A study on the pulmonary functions and the pulmonary circulation in cardio-pulmonary diseases. I. Pulmonary diffusing capacity in cardio-pulmonary diseases.


A case of right coronary artery fistula into left ventricle.


Social background to venereal disease at Kasangati.


The biliary excretion of anions of molecular weight 300-800 in the rat, guinea pig and rabbit.


First Maryland health care corporation funded through OEO.


Electrocardiographic, respiratory and blood pressure changes after blood-saline injection in the orbito-frontal region of dog's brain.


Follow-up study of eleven autistic children originally reported in 1943.


Alpha and omega of childhood schizophrenia.


A comparison of five diagnostic systems for childhood schizophrenia and infantile autism.


Autism and autoimmune disease: a family study.


Initial interventions in psychotherapeutic treatment of autistic children.


CNV responses of autistic and normal children.


Comparison of a blend of milk products and linseed meal as protein supplements for young growing horses.


The differentiation of childhood psychoses: an analysis of checklists for 2,218 psychotic children.


Effect of sex hormones on the metabolism of collagen and 45 Ca by the bones of young gonadec tomized rats.


Consideration of stable iodine in the environment in the evaluation of maximum permissible concentrations for iodine-129.


Section I. Milk and food. Milk surveillance, August 1971.


Electrodialytic extraction in drug analysis. 3. Some practical applications of the electrodialytic extraction method.


Problem-solving thinking and adjustment among disadvantaged preschool children.


Race and sex differences in the child's perception.


Surveillance of venereal diseases among seafarers.


Studies on maturity in newborn infants. IV. Postnatal radiological examination of epiphyseal centers.


Studies on maturity in newborn infants. V. Motor conduction velocity.


Early waves of the electroencephalic auditory response in neonates.


A ventriculo-atrial shunt that elongates with growth.


Tactile matching in children with hydrocephalus.


Cystic astrocytoma of the brainstem.

Cystic astrocytoma of the brainstem.


Taxonomy of child neurologists or identity crisis of neuropediatrics.


A task force with a goal.

A task force with a goal.


A comparison of two sampling procedures for stereological analysis of cell pellets.


Quantitative autoradiography: an evaluation of visual grain counting, reflectance microscopy, gross absorbance measurements and flying-spot microdensitometry.


High-resolution surface scanning electron microscopy of mineralized tissues.


A distortion-free low-magnification stage for the Hitachi HU-11B electron microscope.


An improved method for preparing perforated carbon films for electron microscopy using ultrasonic vibration.


Biological studies in childhood schizophrenia: plasma and RBC cholinesterase activity.


Autism in children with congenital rubella.


Malabsorption and cerebral dysfunction: a multivariate and comparative study of autistic children.


Laboratory predictions of infantile autism based on 5-hydroxytryptamine efflux from blood platelets and their correlation with the Rimland E-2 score.


Early infantile autism and autistic psychopathy.


Parents as cotherapists in the treatment of psychotic children.


A computerized English-Spanish correlation index to five biomedical library classification schemes based on MeSH. A computerized English/Spanish correlation index to five biomedical library classification schemes and a computerized English/Spanish, Spanish/English listings of MeSH are described. The index was accomplished by supplying appropriate classification numbers of five classification schemes (National Library of Medicine; Library of Congress; Dewey Decimal; Cunningham; Boston Medical) to MeSH and a Spanish translation of MeSH The data were keypunched, merged on magnetic tape, and sorted in a computer alphabetically by English and Spanish subject headings and sequentially by classification number. SOME BENEFITS AND USES OF THE INDEX ARE: a complete index to classification schemes based on MeSH terms; a tool for conversion of classification numbers when reclassifying collections; a Spanish index and a crude Spanish translation of five classification schemes; a data base for future applications, e.g., automatic classification. Other classification schemes, such as the UDC, and translations of MeSH into other languages can be added.


AIM-TWX service at the University of Virginia: a review and evaluation. The paper reviews the highlights of a four-week trial period (November 19-December 18, 1970) during which the Medical Library of the University of Virginia experimented with a new remote-access bibliographical control and retrieval system via its TWX machine. The system, called AIM-TWX, was sponsored by the Lister Hill National Center for Biomedical Communications and utilizes a timeshared IBM 360/67 computer in Santa Monica, California. Citations from 109 clinically-oriented journals from 1966 to date, including those currently included in the Abridged Index Medicus, may be retrieved either on- or off-line. Various aspects of this service are described, including problems of staffing, training, and record keeping, as well as the role of the MeSH vocabulary which is the principle "language" of the man-computer dialog. The statistical results indicated that the system was used for approximately 200 minutes on nineteen days and that an average of sixteen searches were run on any given day, or about 4.6 searches per hour of use. In spite of an inexperienced staff who had little knowledge of the MeSH vocabulary and whose training schedule was limited to one four-hour session, the experiment was highly successful in terms of searches and citations. At the end of the period, 298 searches had been run for 114 requestors, and 5,343 citations had been produced. Only fifty-five searches yielded no citations. The experiment generated a great deal of excitement and interest among the staff of the Library and of the Medical Center. Moreover, a large number of medical practitioners in large and small communities of Virginia participated in this experiment, indicating that there exists a great demand for this type of literature searching which AIM-TWX is able to provide with great rapidity.


Cardiopulmonary effects of intravenous gas embolism; with special reference to fate of intravascular gas bubbles.


Exercise phonocardiogram: with special reference to Q-II A  interval on exercise.


Experimental atherosclerosis with ascorbic acid deficiency.


Study on vectorcardiogram in patients with chronic pulmonary disease.


Preliminary communication on the discrepancy between renin activity and hypertension-inducing potency in rat kidney extract dual renal pressor substance hypothesis.


A study on the ballistocardiogram in auricular fibrillation by means of harmonic analysis.


Veneral disease and drugs in adolescent girls.


A study on housing condition in village Rahimabad of Lucknow district.


111 In-labeled transferrin for the detection of tumors.


Morpho-histological studies of the interrenal body, trunk kidney and the urinary bladder of Indian gar-fish Xenentodon cancila (Ham.).


The flea fauna of Iran. X. Two new Leptopsyllid fleas (Siphonaptera) from the long-tailed hamster, Calomyscus (Cricetidae).


The glioarchitectonics of the chicken brain. 3. Astrocytes, oligodendroglia and other neuroglial cells.


Allegations, actions, and ad interim.

Allegations, actions, and ad interim.


Effect of regulation of nitrogen metabolism on the intensity of carotenoid synthesis in Rhodotorula sanneii.


Effect of moisture, reaction, and soil type on nitrification and loss of nitrogen.


The antibacterial effect of dry tomato plants, onion peels, and guava leaves on soil microorganisms.


Thymoma and thymic germinal center.

Thymoma and thymic germinal center.


Thymic abnormalities and the chronicity of liver disease--report of 10 cases and follow-up study.


Calcium metabolism in tumors : its relationship with chromium complex accumulation. I. Uptake of calcium and phophorus by experimental tumors.


Saccharomyces (Torulaspora) florenzanii sp.n., a new wine fermenting yeast from Sardegna (Italia).


Changes in bacterial population during the colonization of wheat rhizosphere, following aseptic cultivation and foliar application of urea.


The role of long-acting thyroid stimulator and of thyroid autoimmunity in the pathogenesis of euthyroid endocrine ophthalmopathy.


Central nervous system induced cardiac arrhythmias in cats and their incidence in relation to anaesthetic agents.


Mineral balance in young men fed a fortified milk-base formula.


A comparison of the death rates from asthma 1953-67 for the age groups 10-14, 15-19, and 20-24 in England and Wales with those for the same age groups in Sweden. Why have mortality rates for asthma, particularly in the mid-1960s, been higher in England and Wales than in Sweden?


The age at menarche in girls attending schools in Baghdad.


A peptidase from Mycobacterium phlei. I. Extraction and purification.


Social class factor in autism.

Social class factor in autism.


The adaptive viewpoint: its role in autism and child psychiatry.


Topical anti-inflammatory steroids and intraocular pressure: the place of medrysone.


Imipramine in preschool autistic and schizophrenic children.


Observations on the nature of human relatedness.


Hypsarrhythmia and infantile autism: a clinical report.


Relative effectiveness of operant conditioning and play therapy in childhood schizophrenia.


Action of dry guava leaves on bacteria, contributing to nitrogen transformations in soil.


Intellectuality in parents of psychotic, subnormal, and normal children.


Bacteriological and chemical studies in rice straw compost. V. Effect of phosphorus.


Bacteriological and chemical studies in rice straw compost. VI. Effect of calcium.


Studies on the growth stimulating action of humic acid on bacteria.


Oxidations of nucleic acids and their components in soil. I. Oxidation in air-dried soil samples.


Oxidations of nucleic acids and their components in soil. II. Oxidation in soil stored in moist state.


Extracellular proteases from soil actinomycetes. I. Comparison with commercial pronase B.


Oxidative patterns of purines and pyrimidines in soil after specific and non-specific preincubation.


Effect of sodium molybdate with inoculant on the yield of pea crop.


Blood supply of the semilunar cartilages in dog under various functional conditions.


Pre-intestinal disappearance of vitamin A in steers and wethers fed cottonseed oil.


Mode of action of vitamin D.

Mode of action of vitamin D.


Tryptophan to niacin pathway in lupus erythematosus.


Radioimmunoassays for rat follicle stimulating and luteinizing hormones.


Properties and androgen-induced changes of arginase in kidney and ventral prostate of rats.


Participation of pregnant uterus upon the gestagen secretion during midpregnancy in the rat.


Metabolic disturbance of KK mice in overt diabetes.


Quantitative participation of placental mammotropic hormones in mammary development during pregnancy of mice.


A rapid and practical determination of aldosterone in urine by double isotope method.


Studies on the accumulation of thyroxine in isolated bovine thyroid cells.


Effect of blinding on the excretion of a gonadotropin-inhibiting substance in male rats.


Chair for neuroradiology and neurosurgery.


Histochemical and biochemical studies of glycogen in the brain and the liver of hepatic encephalopathy (type Inose), report of two cases.


Photic and bemegride activation of triphasic waves in portal-systemic encephalopathy.


The neurophysiological basis of hypnosis--objective techniques.


RISA cisternography: a review of 29 cases.


Studies on changes of the electrophoretic distribution of protein fraction in serum and synovial fluid in rheumatoid arthritis.


The way I see it.

The way I see it.


The change of the torsion of the DNA helix caused by intercalation. II. Measurement of the relative change of torsion induced by various intercalating drugs.


Doctors of osteopathy: getting a stronger voice.


Protein interference in thiabendazole determination.


Use of Dexsil 300 on a specially washed chromosorb W for multicomponent residue determinations of phosphorus- and sulfur-containing pesticides by flame photometric GLC.


Calorimetric method for the determination of vitamin D in fortified whole and partially skim fluid milks.


Determination of added lactose (nonfat dry milk) in meat products. I. Colorimetric method.


Regulation of induced CSF hypertension.

Regulation of induced CSF hypertension.


The differences in fine structure of the myelencephalic and telencephalic choroid plexuses in the fetuses of man and rabbit, and a comparison with the mature stage.


Biomechanics of hydrocephalus.

Biomechanics of hydrocephalus.


Basic mechanisms of hydrocephalus.

Basic mechanisms of hydrocephalus.


Surgery for obstructive hydrocephalus.

Surgery for obstructive hydrocephalus.


The sealing action of subarachnoid blood.


Secretion and drainage of the cerebrospinal fluid.


Somatosensory evoked responses in carbon monoxide poisoned subjects. 1. Application of amplitude scaling.


A clinical and pathological study of myeloneuropathy following abdominal disorders.


Somatosensory evoked responses in carbon monoxide poisoned subjects. 2. Influence of ages.


A case of nodular polioencephalitis with a history of 7 years.


Hereditary spastic ataxia: report of a family through four generations.


Integrating functions of the prefrontal cortex on emotional behaviors.


Variability of optic evoked potentials: correlation between thalamic and cortical potentials.


Venereal disease and the young patient: a perspective.


Multiple aneurysms of the coronary arteries. Presentation of one case with diagnosis in life.


Circulation patterns during clamping of the carotid arteries as determined by cutaneous carotid photoplethysmography.


A morphological analysis of valvular thickening in the congenitally malformed hearts--with special reference to hemodynamic changes.


Calcium metabolism in tumors. Its relationship with chromium complex accumulation. 3. Studies on the nature of the anions involved in the in vivo precipitation of calcium.


The effect of monocrotaline, a pyrrolizidine alkaloid, on HeLa cells and primary cultured cells from rat liver and lung.


An autopsy case of autoimmune hemolytic anemia.


An autopsy case of neuro-cutaneous melanosis (Touraine).


Neuro-Behcet's syndrome: report of an autopsy case.


Effects of HCG on the gonades of rabbit fetuses.


Autoradiographic studies on the nucleic acid and protein synthesis and the decidualization of endometrium in early pregnancy of rat.


Comparative study of immunological and oral hormone withdrawal tests in early pregnancy.


Intrauterine diagnosis of fetal chromosomes.


Application of fiberoptic oximeter in the field of obstetrics--particularly concerning oxygen saturation in the umbilical vein blood from immediately after delivery till the appearance of signs of placental separation in vivo.


A comparative study on radioimmunoassay of human chorionic gonadotropin and luteinizing hormone.


Nucleic acids and protein synthesis in the rat embryos and uterus in the preimplantation stages.


Thymic lesions associated with systemic immune disorders in man.


Surgical management of arthritis of the knee.


Partitioning behavior of aflatoxin M in dairy products.


Field study of a chlordane residue problem: soil and plant relationships.


A quantitative approach to epidemiology and control of cholera.


The immune reactivity of heterologous antisera against a solubilized human lymphoid membrane component.


Cholera vaccination as a tool for cholera control.


The yellow fever epidemic in Luanda in 1971.


The epidemiological observations made in the two smallpox outbreaks in the land of Northrhine-Westphalia, 1962 at Simmerath (Eifel region) and 1970 at Meschede.


Lesions of the orbit affecting motility.


Pulmonary oxygen toxicity: composition of endobronchial saline extracts of rats during exposure to oxygen.


The possible role of dung-pusher beetles in the epidemiology of intestinal helminths.


Epidemiology of cutaneous leishmaniasis in Iran B. Khorassan. IV. Distribution of sandflies.


The future of neurological surgery.

The future of neurological surgery.


Special surgical techniques in head trauma.


Pre-ictal and ictal changes of serotonin, GABA and glutamate contents in different regions of rabbit brain during methoxypyridoxine-induced seizures.


Acute ischemic colitis due to milk allergy.


Polypoid lesions of the stomach.

Polypoid lesions of the stomach.


New growth charts: soy, cow, and breast milk comparison. Weight and length measurements were recorded for 1583 babies during the 1st year of life.  The population sample was fairly constant and composed of children from white, middle and upper income families seen in the private practice of 11 pediatricians in Dallas, Texas.  This study was part of a larger research effort to determine how diets during the 1st 6 months affect subsequent development of allergy.  The babies were subdivided into 3 groups according to family history for allergy and 3 groups according to diet (cow, breast or soy milk) during the 1st 6 months.  After examination at birth, the babies were reexamined monthly up to 6 months of age and bimonthly thereafter up to age 1.  Nearly 22,000 observations were made in all.  Tables and charts were constructed showing mean weight and length measurements plotted from birth through 38 weeks against 24 possible combinations of sex, family allergy history, and diet.  No significant difference was detectable between subgroups when differences in birth weight were taken into account.  Compared with the Iowa norms for infant growth which were established from measurements taken 1926-49, these babies grew taller in the 1st year of life; weight differences were minimal.  Revised infant growth charts, more consistent with today's growth patterns, are needed.


Examination of the canine genital system.


Physical examination of the urinary system.


Physical diagnosis in the cat.

Physical diagnosis in the cat.


Dermatologic diagnosis.

Dermatologic diagnosis.


Small animal neurologic examination.

Small animal neurologic examination.


Examination of the eye.

Examination of the eye.


General examination of dogs.

General examination of dogs.


Examination of the canine locomotor system.


Physical examination of the canine respiratory system.


Physical examination of the cardiovascular system.


Physical diagnosis of the gastrointestinal system.


Selected feline dermatoses.

Selected feline dermatoses.


Immunization for feline panleukopenia.

Immunization for feline panleukopenia.


Infectious feline peritonitis.

Infectious feline peritonitis.


Dyspnea.

Dyspnea.


External ocular disease.

External ocular disease.


Urethral surgery in the cat.

Urethral surgery in the cat.


Geriatric practice.

Geriatric practice.


Renal disease.

Renal disease.


Clinical aspects of some encephalopathies of domestic cats.


Surgical stabilization of recurrent shoulder luxation.


Normal joint tissues and their reaction to injury.


Reticulin pattern in abnormal lymph nodes.


Milk intolerance in irritable colon syndrome.


Origin from the spinal cord of motor innervation to uterine horn and corpus uteri in dogs.


Studies on fetal heart rate changes related to the conditions of fetus and newborn. Quantitative analysis of fetal cardiotachogram during labor.


Vaginal involvement of early carcinoma of the cervix uteri.


Detailed analysis of positive estrogen feedback mechanism.


Studies on the pulmonary surface-active lipoprotein. II. Biophysical characterization of its peptide moiety.


Results of surgical treatment for preinvasive and early invasive carcinoma of the cervix.


The induction of labor with prostaglandin F2. This is a summary of the authors' experience in using PG (prostaglandin) F2alpha for the induction of labor at or near term.  30 women made up the study group.  Vaginal delivery occurred in all 30 patients.  No fetal complications attributable to the PGF2alpha were observed.  There were no adverse maternal cardiovascular or pulmonary effects.  A concentration of .05-.15 mug/kg/min of PGF2alpha was sufficient to stimulate uterine activity in all cases.  It generally took less than 20 minutes between introduction of the PGF2alpha and the onset of uterine activity, regardless of parity.  It is recommended that PG infusion be slow initially, then increased steadily until an effective infusion rate is obtained.  The pattern of uterine activity induced by the PGF2alpha was different from that induced by oxytocin.  Whereas the PGF2alpha produced the characteristic irregular uncoordinated contractions at the beginning, developing later into regular coordinated contractions, the oxytocin produces uniformly regular contractions.  This would suggest that the mechanisms of action of the 2 substances differ.


Intrathecal cold saline for relief of intractable pain.


The premarital examination.

The premarital examination.


Determination of ethylene thiourea residues in foods, using thin layer and gas chromatography.


A method for detection of aflatoxins B1 and B2 in toasted cottonseed meal.


Determination of mercury in food products and biological fluids by aeration and flameless atomic absorption spectrophotometry.


Contemporary problems of thermoregulation.


Amino acid and protein supplementation of defatted cottonseed flour.


Fixation of carbon dioxide by pre-implantation mouse embryos in vitro and the activities of enzymes involved in the process.


Clinical observation on the origin of C-reactive protein in blood.


Ricinoleic acid in Linum mucronatum seed oil.


Chronic maternal cigaret smoking and infant retrolental fibroplasia: negative results.


Cow's milk (lactose) intolerance among Indonesian doctors of the Dr. Tjipto Mangunkusumo General Hospital and Medical School, University of Indonesia.


The condom as a venereal disease preventive.


Antral-ethmoid decompression of endocrine exophthalmos.


Deviometry in noncomitant deviations.

Deviometry in noncomitant deviations.


Total cell-associated immunoglobulin (TCAI) and immunoglobulin (Ig)synthesis of human leukocytes.


Mental health of adolescents and young persons.


Planning and programming for nuring services.


Principles of health planning in the USSR.


Aflatoxin M1 removal from aqueous solution by Flavobacterium aurantiacum.


Biguanides. Mode of action and role in the up-to-date treatment of diabetes mellitus.


Observations with seduxen in stomatology.


New data on Adebit treatment of diabetes.


Wound dressing with plastubol.

Wound dressing with plastubol.


Use of Torecan (thiethylperazine) in surgery.


Structural proteins of adenovirus-associated virus type 3. Three major structural proteins were found in adenovirus-associated virus (AAV) type 3H virions which were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The molecular weights of the polypeptides were determined to be approximately 66,000 (VP1), 80,000 (VP2), and 92,000 (VP3). The component having a molecular weight of 66,000 comprised about 80% of the total virion protein in the major AAV-3H particle, and the other two components comprised about 10% each. Proteins of the same molecular weight were found in the minor dense AAV-3H virion, but the 80,000- and 92,000-molecular-weight components were present at about one-half the concentration. The AAV-3H virion contains about 72 molecules of VP1 and 8 and 7 molecules of VP2 and VP3, respectively.


Insecticide resistance in arthropods.

Insecticide resistance in arthropods.


Antigen uptake in vivo by peritoneal macrophages from mice exhibiting antigenic competition.


Antigen-induced proliferation in vitro of bone marrow precursors of granulocytes and macrophages.


A behavioral treatment of bronchial asthma in modified group therapy.


A rating instrument for anxiety disorders.


Bufotenin like substances in form of glucuronide in  schizophrenic and normal urines.


Beware of physicians bearing gifts.

Beware of physicians bearing gifts.


Alterations in pain perception under conditions of multiple sensory modality stimulation.


Anorexia: a psychiatric symptom with many faces.


On not facing death alone. The trauma of dying need not mean the eclipse of the human.


Depressive illness: a sociomedical syndrome.


Depression in the normal adult population.


Chlorimipramine in obsessional states. (A pilot study).


Clinical pharmacology and legislative developments in Canada.


Emotion and heart failure.

Emotion and heart failure.


Individual psychotherapy with geriatric patients. (Results, goals and limitations).


Family feedback in depressive illnesses.


Differential diagnosis of temporomandibular area pain.


Management of myofascial pain dysfunction syndrome of the temporomandibular joint by tension control training.


N-methylating enzyme in blood of schizophrenics.


Flupenthixol (fluanxol) in the treatment of psychosomatic disorders in medicine.


Investigations of hypnosis utilizing induction by video tape.


Parkinsonian patients' self-reports of levodopa effects on cognitive and memory changes.


Psychedelic agents and mysticism.

Psychedelic agents and mysticism.


The binding of the Fc fragment of guinea-pig cytophilic antibody to peritoneal macrophages.


The genetic counselor: responsible to whom?


Psychiatric reaction to threatened blindness; a personal account.


Pentothal interviews in the treatment of alcoholism.


Psychiatric liaison as an educational experience in total patient care.


The differentiation of anxiety and depressive disorders: a biometric approach.


Psychosomatic aspects of central serous retinopathy. A review and case report.


Psychosomatic factors in the epidemiology of infectious mononucleosis.


The problems of sleep and rest in the intensive care unit.


Psychosomatic study of angina pectoris.

Psychosomatic study of angina pectoris.


The psychological aspects of cancer in man.


The role of non-verbal communication in the development and treatment of emotional illness.


The treatment of factitial disease.

The treatment of factitial disease.


The psychological reaction to severe burns.


Treating emotional illness arising in marital discord. (An evaluation of psychotherapy and psychotropic medication).


Treatment of male potency disorders: the present status.


The whiplash neurosis.

The whiplash neurosis.


The pathological findings in a case of argininosuccinic aciduria.


The cat cry syndrome (5p-) in adolescents and adults.


Degenerated nerve fibres within trigeminal branches following trigeminal root cutting in some mammals.


Hemispherical response to fine touch in normal and mentally subnormal epileptic subjects.


The metabolism of isopropyl oxitol in rat and dog.


The enzymic deacetylation of 4-acetamidobenzoic acid by rat tissues and the effect of manganese ions.


Effect of (minus)-emetine on liver microsomal protein synthesis in partially hepatectomized rats.


The metabolism of thiophen in the rabbit and the rat.


The role of the gut flora in the metabolism of prontosil and neoprontosil in the rat.


The metabolism and distribution of benapryzine.


The metabolism of S-2-cyanoethyl-N-((methylcarbamoyl)oxy)thioacetimidate, an insecticidal carbamate, in the rat.


Comparative metabolism of oxolinic acid by the rat, rabbit and dog.


The metabolism of alicyclic ketones in the rabbit and rat.


The metabolic fate of (vinyl-i-14C)dichlorvos in the rat after oral and inhalation exposure.


Absorption of organic anions from the rat small intestine.


The fate of an experimental MAO inhibitor, N-cyclopropyl-2-chlorophenoxyethylamine (Lilly 51641) in the rat and in man.


Fibrinolysis regulation by the spleen.

Fibrinolysis regulation by the spleen.


Effect of a high-fat diet on pancreatic insulin release, glucose tolerance and hepatic gluconeogenesis in male rats.


[Effect of dipyridamole on the domestic gas intoxication (author's transl)].


Variations of the platelet aggregation during the cycle of menstruation.


The effect of different Na+-substitutes on the intestinal absorption of glucose.


The Columbia plan: an interview with Joel and Charmian Elkes.


A community mental health center case study: innovations and issues.


Approach to community mental health: analysis of basic problems.


Phoenix House: an interview with Mitchell S. Rosenthal.


The indigenous nurse as community crisis intervener.


The origins of Project Community: innovating a social institution for adolescents.


The psychotherapy of exhibitionists in a court clinic setting.


Professional dilemmas in corrections.

Professional dilemmas in corrections.


The psychology of rapists.

The psychology of rapists.


Evaluation of psychotherapy in a maximum security prison.


The Baxstrom patients: backgrounds and outcomes.


The delinquent as a poor loser.

The delinquent as a poor loser.


Behavioral effects of l-dopa in man.

Behavioral effects of l-dopa in man.


Arrangement of water in the DNA helix.

Arrangement of water in the DNA helix.


Studies on reduction of operative mortality after radical operation for carcinoma of the thoracic esophagus.


Hormone conditioned cancer chemotherapy for advanced breast cancer with special references to biological significance of adrenal gland.


[Discrimatory effect of the erythropoietin on the RNA metabolism of the rat].


Risk of developing cholelithiasis after vagotomy.


Evaluation of the ultrasonic echodiagnosis of cholelithiasis and cancers of the bile duct and pancreas.


Studies on the cell cycle of gastric cancer cells.


Reviews of corrective surgery in 126 cases of tetralogy of Fallot.


Combination cancer chemotherapy by regional intra-arterial or intra-aortic infusion of 5-fluorouracil and mitomycin-C with or without irradiation.


A new method of esophageal anastomosis by means of the devised ring.


Intracranial echo pulsation in brain death, brain tumor and intracranial hypertension.


Pancreatoduodenectomy: Our experiences and method of reconstruction.


Bifrontal external decompression for traumatic brain edema.


Use of ultrasound in detecting optimum position of distal end of ventriculoatrial shunt in relation to tricuspid.


Histochemical and electron microscopic study on steroid-induced ulcer in rat stomach.


Prognostic correlation with the cerebral vasospasm and the direct operation for the intracranial aneurysm.


Mitral valve replacement with ball-valve prostheses.


Immediate pharyngogastrostomy following total esophagectomy by blunt dissection.


Primary carcinoma of the duodenum.

Primary carcinoma of the duodenum.


Recent advance in diagnosis and treatment of cholelithiasis in special reference to ultrasonic tomography.


Preservation of cadaver organs with the use of a heart massage unit.


Reconstruction of alimentary tract after total gastrectomy with modified sandwich-type esophagojejunstomy utilizing ring-shaped jejunal loop.


Open-heart repair of ventricular septal defect in infancy by means of surface-induced hypothermia and coronary perfusion.


A new method for "femoral hernia" repair.


Classification of angiopathy of the limbs.


Pheochromocytoma and pregnancy. Review of 89 cases.


The determination of elemental composition in subcellular portions of individual neurons.


Cytochemical analysis by laser microprobe-emission spectroscopy.


Selection of enzymes for activity measurements in energy metabolism.  A new parameter of reference for activity measurements in tissue structures.


Metabolite flux in single neurons during ischemia and anesthesia.


The extension of micro-analysis and histochemistry to coenzyme A and certain coenzyme A dependent enzymes.


Preoperative and postoperative ventilatory care.


Atelectasis.

Atelectasis.


Aspiration pneumonitis.

Aspiration pneumonitis.


Tracheostomy.

Tracheostomy.


Pulmonary embolism.

Pulmonary embolism.


Preoperative and postoperative ventilatory care: chest physical therapy.


Asthma.

Asthma.


Inhalation therapy.

Inhalation therapy.


The recovery room and respiratory care.

The recovery room and respiratory care.


Pulmonary evaluation and therapy prior to surgery.


Postoperative hypoxia: causes, limits, and prevention.


Postoperative hypoxia in infants and children.


The importance of arterial blood gas measurements in the respiratory care of surgical patients.


Charcot-Marie-Tooth syndrome, dominantly inherited.


Hypertrophic interstitial neuropathy of Déjérine-Sottas.


Recessively inherited Charcot-Marie-Tooth syndrome in identical twins.


Roussy-Levy hereditary areflexic dystasis presenting as Charcot-Marie-Tooth syndrome.


Pseudohypertrophic muscular dystrophy of Cuchenne with manifestations in the heterozygote.


Duchenne muscular dystrophy, preclinical diagnosis.


Benign muscular dystrophy, Becker type.

Benign muscular dystrophy, Becker type.


Facioscapulohumeral muscular dystrophy with congenital absence of sternocleidomastoid muscles.


X-linked muscular dystrophy, benign form with contractures.


Oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy.


Myotonic dystrophy with mental retardation.


Myotonic dystrophy.

Myotonic dystrophy.


Limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy.


Arthrogryposis multiplex congenita in sibs.


Nemaline myopathy: second autopsied case in a previously reported family.


Biochemical approaches to the study of muscle disease. Several current approaches to the biochemistry of dystrophic muscle are reviewed with emphasis on the possible merits and limitations of each method.  General difficulties in the study of diseased muscle apply more or less to each of the approaches.  Data on dystrophic muscle obtained by technics developed for the study of normal muscle must be carefully assessed before reliable conclusions can be drawn


Hereditary ptosis.

Hereditary ptosis. Weakness of the external eye muscles was believed to be of genetic origin in 94 of 97 patients studied and was familial in 73 patients.  Thirty patients had congenital ptosis alone or with weakness of other ocular muscles. The lack of progression and high incidence of other congenital anomalies suggested that congenital ptosis had in most instances a development etiology.  Neurogenic congenital ptosis was documented in one instance and was suspected in another patient.  The most common causes of progressive ophthalmaplegia with onset after birth was myotonic dystrophy and ocular muscle dystrophy.  On clinical and genetic grounds, ptosis associated with retinitis pigmentosa was considered as a distinct disease and there was no conclusive evidence that ocular muscle dystrophy and oculopharyneal dystrophy were separate diseases.  The relatively high incidence of familial myasthenia gravis was probably due to the selection of the patients.  Two pairs of sibs with "chondrodystrophic myotonia" were included in the study.  Progressive external ophthalmoplegia with onset after birth was neurogenic in three instanced.  It accompanied motor neuron disease, Kugelberg-Welander disease and an undertermined disease affecting the central and peripheral nervous system, each in one patient.


Characteristic clinical findings in some neurogenic myopathies and in some myogenic myopathies causing muscular weakness, hypotonia and atrophy in infancy and early childhood. Some conditions causing neurogenic or myogenic myopathy are reviewed and illustrated by cases of 1) perinatal cervical cord injury; 2) various types of progressive spinal muscular atrophy and 3) congenital muscular dystrophy, Duchenne-like type of muscular dystrophy, limb-girdle type of muscular dystrophy.  All the cases of muscular dystrophy described here occurred in girls.


The genetic heterogeneity of spinal muscular atrophy (SMA). The clinical picture of the spinal muscular atrophy varies greatly with respect to age of onset, speed of progression, severity and distribution of muscular atrophy, weakness and contractures, yet cases occurring within a family usually show concordant clinical features. Thus, genetic heterogeneity has to be assumed.  This is supported by the various genetic transmission patterns (autosomal dominant, recessive, X-linked recessive) found by accurate pedigree analysis.


Werdnig-Hoffmann disease.

Werdnig-Hoffmann disease.


The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy).


Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. Previous evidence for the existence of at least two genetically distinct forms of generalized oculocutaneous albinism was confirmed by the observation of a mating between two Negro albinos who had a normally pigmented daughter. Extensive blood typing provided no evidence for nonpaternity. Clinical and biochemical differences in the two types of albinism found in this family should permit easy recognition of these entities, although in Caucasians the two phenotypes may be quite similar.


Hereditary tinted lenses in two families.


Ectopia lentis due to homocystinuria.

Ectopia lentis due to homocystinuria.


Ectopia lentis et pupillae.

Ectopia lentis et pupillae.


Retinitis pigmentosa, autosomal recessive type: three kindreds.


Retinitis pigmentosa, autosomal dominant type: two kindreds.


Retinitis pigmentosa, X-linked form: two kindreds.


Laurence-Moon-Biedl-Bardet syndrome in four kindreds.


A kindred showing a disorder of the retinal pigmentary epithelium and choriocapillaris, with characteristic macular changes and autosomal dominant transmission.


Macular degeneration of undetermined type: probable autosomal recessive inheritance.


Leber's congenital amaurosis and mental retardation.


Choroideremia.

Choroideremia.


Congenital amaurosis and nephrophthisis: a new syndrome.


X-linked ocular albinism.

X-linked ocular albinism.


Albinoidism and albinism.

Albinoidism and albinism.


A family with microphthalmia, anophthalmia and concomitant oligophrenia.


Congenital glaucoma, cataplexy and mental retardation in a mother and son: a "new" syndrome.


Unilateral ptosis in father and daughter.


A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, x-chromosomal retinoschisis and grouped pigments of the retina. 1) Dystrophia retinae dysacusis syndrome: Two different recessively inherited forms have been observed among 133 cases diagnosed in Finland--a country with a population of 4.6 million. 2) X-chromosomal retinoschisis: A series of 179 ophthalmoscopically verified familial cases is reported. The loci for Xg and retinoschisis are within measurable distance on the X-chromosome, but deutan dyschromatopsia is far from these. 3) Grouped pigments of the retina: No evidence of heredity was detected among 23 cases on the basis of the last four to six generations. The sex ratio is 15:8.


Genetic factors in adrenocortical insufficiency.


Sexual development, normal and abnormal. An understanding of normal sexual development is essential to understanding abnormal sexual development. Normal differentiation of the bipotential external genitalia, reproductive ducts, and gonads are dependent upon the presence or absence of androgens from any source, the presence or absence of mullerian inhibiting factor from the fetal testes, and the number and type of sex chromosomes present respectively. Abnormal differentiation results from an imbalance of one or more of these factors or peripheral resistance to these factors.


A classification of special problems in sex differentiation. The purpose of this discussion is to present a revised classification of both male and female hermaphroditism and to illustrate by case presentation some of the more unusual or newly recognized forms of these disorders, including forms where recent studies have helped elucidate etiology or pathogenesis.


Genital ducts and external genitalia: development and anomalies. Human wolffian ducts are considered to be of ectodermal origin. Developing müllerian ducts in the area of the mesonephric ducts grow in contact with wolffian ducts. Vaginal differentiation occurs only if müllerian ducts contact the urogenital sinus, inducing proliferation of the entodermal epithelium and if the caudal ends of the müllerian ducts do not regress. Development of the external genitalia and the role of fetal androgens are discussed. Malformations of the external genitalia are classified pathogenetically as steroid-independent and steroid-dependent. Definitions for steroid-dependent malformations such as ambiguous genitalia, hypospadic genitalia, phallus, hypertrophic and peniform clitoris are presented.


Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual development in males. Incomplete masculinization of the external genitals of affected individuals-essentially the only abnormal feature of the syndrome-results in varying degrees of genital ambiguity. Testes are present, however, and generalized virilization occurs at puberty, emphasizing the importance of accurate diagnosis early in life. Our report of three affected sibs born to related parents appears to confirm earlier suggestions that PPSH is a genetic disorder, transmitted in autosomal recessive fashion.


Abnormalities of human autosomes. I. Ambigous genitalia associated with a translocation 46,XY, t(Cq+;Cq-). Ambiguity of the external genitalia, along with other milder developmental defects, occurred in a boy with an autosomal aberration, translocation between long arms of two of the shorter members of Group C. The case raises the possibility of a specific effect on development of the external genitalia of autosomal loci and emphasizes that pseudohermaphroditism can on occasion result from autosomal abberations.


Testicular dysgenesis syndromes.

Testicular dysgenesis syndromes. The term testicular dysgenesis should be applied only to gonads exhibiting differentiation of testicular seminiferous tubules (but not primordial ovarian follicles) which cannot produce regression of the müllerian duct. Typical dysgenetic testes are hypoplastic with thin, insufficiently developed tunica albuginea. Degenerating seminiferous tubules and areas of cellular connective tissue are located underneath or within the tunica albuginea. Spermatogonia and mature Sertoli cells are present in the seminiferous tubules of adult patients. Testicular tumors are common in dysgenetic testes. The same kind of testicular dysgenesis is observed in patients with different karyotypes. Y chromosomal defects of XO chromosomal constitution occurs or is thought to occur in some cells in most cases. All individuals with dysgenetic testes show androgen-sensitive male pseudohermaphroditism with a uterus. Depending upon differentiation of the external genitalia, cases with ambiguous external genitalia and male (or hypospadic) external genitalia may be distinguished. Unilateral testicular dysgenesis with a contralateral streak gonad ("mixed gonadal dysgenesis") and unilateral testicular dysgenesis with an unaffected contralateral testis may be distinguished. Relationships between the karyotypes and morphogenetic pathways of gonadal differentiation are discussed.


Androgen-insensitive male pseudohermaphroditism. Androgen insensitivity is a mendelian trait transmitted through phenotypically normal females. The affected males exhibit normal fetal testicular development and regression of the müllerian ducts. A luminized uterus is never present. External genitalia are feminine or malformed. The vagina, found in most cases, ends blindly. Female breasts are present in adults. The following three syndromes can be distinguished which differ in the character of the external genitalia: 1) Complete testicular feminization with normal female external genitalia: 2) Incomplete testicular feminization with ambiguous external genitalia showing an enlarged clitoris or phallus; 3) Testicular feminization with hypospadias (androgen-insensitive Reifenstein syndrome). External genitalia are hypospadic, exhibiting scrotal development. The presence of immature Sertoli cells in testicular tubules, in spite of hyperplastic and hypertrophic Leydig cells, is considered to be a pathognomonic histopathologic feature for androgen-insensitivity syndromes. The Leydig cells are able to produce androgens, but androgen-insensitive Sertoli cells are unable to mature.


Familial gynecomastia.

Familial gynecomastia. A patient with pubertal gynecomastia had a younger brother and two maternal uncles with the same condition. Investigation of one of the two uncles, who are both now infertile, revealed the characteristic features of the del Castillo syndrome. It is suggested that the propositus also has del Castillo syndrome which is probably a peri or postpubertal type of primary testicular deficiency in the early stages of which spermatogenic function is still present.


Bilateral anorchia: discordance in monozygotic twins. The bilateral absence of testes is described in one of two otherwise healthy and well-developed 12-year-old identical twin boys. The twins' father has only one palpable testis. The occurrence of complete anorchia in only one of otherwise identical twins constitutes relevant new data for considering the etiology of this rare condition and in assaying the role of the testis in growth and development between birth and puberty.


Progressive idiopathic clitoral hypertrophy in a child: a previously undescribed type of female pseudohermaphroditism. Progressive idiopathic masculinization of the clitoris was observed between the ages of 13 and 30 months in a healthy girl, otherwise normally developed except for a patent ductus arteriosus.


Abnormal gonadal differentiation in XY females and XX males. It now seems probable that most cases of pure gonadal dysgenesis in XY women are genetically determined rather than induced by environmental agents. Some sporadic cases may conceivably be the result of X-Y interchange and it is suggested that more strenuous efforts be made to study the inheritance of X-linked markers in these cases and in XX true hermaphrodites. Such studies have already been most informative in XX males.


Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients. De novo structural rearrangement of the Y chromosome was discovered in one cellular component of a mosaicism in each of three individuals. In each case another cellular component had lost the Y chromosome completely and was monosomic (45,X). Consideration of these three observations, in light of the regularity with which an association has been reported previously, led to the formulation of a concept to explain, in terms of a single disruptive cytogenetic event in the zygote or an early postzygotic cell, the simultaneous derivation of a cell with an abnormal Y and a monosomic sister cell devoid of a Y completely. An intrachromosomal rearrangement affecting the Y is proposed to give rise to one rearranged Y and to one acentric Y fragment. The unlike sister cells derived would be progenitors of two abnormal cellular components of a mosaic embryo. Should the rearrangement occur in a postzygotic cell, a third and normal (46,XY) component would be represented as well.


Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Although usually associated with an abnormal sex chromosomal complement, gonadal dysgenesis is occasionally detected in individuals having apparently normal male (46,XY) or female (46,XX) chromosomal complements. Six individuals with XY or XX gonadal dysgenesis, four proven, two probable, are described. A review of histologically verified cases of XX and XY gonadal dysgenesis reveals frequent familial aggregation of affected individuals, a situation rarely encountered in the more frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent parental consanguinity suggest that XX gonadal dysgenesis is an autosomal recessive condition, while certain families suggest that XY gonadal Dysgenesis is an X-linked recessive or male-limited autosomal dominant condition.


Males with a uterus and fallopian tubes, a rare disorder of sexual development. A man (46,XY) is described with an intraabdominal uterus and fallopian tubes. His testes, each of which contained a gonadoblastoma, occupied the intraabdominal adnexal position, leaving the scrotum empty. His external genitalia were unambiguously male. A vagina opened into the urethra. His presenting complaint was inguinal hernia. This developmental defect has been described previously, but genetic aspects and its relation to other conditions, "mixed" gonadal dysgenesis in particular, remains obscure pending the recognition and reporting of more cases studied in the light of recent cytogenetic advances.


Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Three brothers with a previously unrecognized pattern of malformations are presented. The syndrome is characterized by short stature; a broad, prominent forehead, hypertelorism, congenital ptosis, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis. This disorder is apparently transmitted as an X-linked recessive trait. It is important to recognize this syndrome because of its heritability and for prevention of neurologic problems consequent to ligamentous laxity and malformation of cervical vertebras.


Pterygium syndrome.

Pterygium syndrome.


Isolated growth hormone dificiency, type I (sexual ateleiosis, type I).


Isolated growth hormone deficiency, type II (sexual ateleiosis, type II).


Sexual ateleiotic dwarfism associated with normal plasma growth hormone levels.


Panhypopituitarism.

Panhypopituitarism.


Osteogenesis imperfecta and hypopituitarism in two unrelated males.


Pendred syndrome (hereditary goiter and deafness).


Athyreotic cretinism in two sisters.

Athyreotic cretinism in two sisters.


Idiopathic hypoparathyroidism and Addison's disease without moniliasis.


A follow-up on Hanhart's dwarfs of Krk.

A follow-up on Hanhart's dwarfs of Krk. Krk is the largest of the Yugoslav islands. On it, due to isolation and consanguineous marriages, certain hereditary diseases such as dwarfism, albinism and a progressive spastic quadriplegia associated with cataracts and mental defect, appear more frequently than in the rest of the population. In this short review, the primary concern is with the first of the disorders. Evidence is presented that Hanhart's dwarfs, as they have been called, have recessively inherited panhypopituitarism.


Albright's hereditary osteodystrophy (pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism).


Nephrogenic (vasopressin-resistant) diabetes insipidus with the usual X-linked inheritance.


Hypophosphatemic rickets with probable X-linked dominant inheritance and with ankylosing arthropathy.


Familial hypophosphatemic rickets showing autosomal dominant inheritance.


Progressive lipodystrophy.

Progressive lipodystrophy.


Vitamin D-dependent rickets ("hereditäre pseudomangelrachitis") in two sibs.


The Prader-Willi syndrome with cardiorespiratory complications.


Low birthweight dwarfism.

Low birthweight dwarfism.


Gigantism with congenital anomalies.

Gigantism with congenital anomalies.


A new syndrome in two unrelated females: Klippel-Feil deformity, conductive deafness and absent vagina.


Incomplete testicular feminization.

Incomplete testicular feminization.


Male pseudohermaphrodite raised as a male.


Male pseudohermaphrodite reared as a female.


XO/XY mosaicism.

XO/XY mosaicism.


Transverse vaginal septum (hydrometrocolpos).


Comment on pituitary dwarfism in Norway 1961-1970.


Mechanisms of gene action in disorders of the endocrine glands. Hereditary endocrinopathies may result from a wide variety of distinct pathogenetic mechanisms, including: abnormalities in hormonal structure, synthesis or secretion; neurostimulatory defects; biosynthetic enzyme deficiencies; developmental malformations; degenerative disorders; hormonal antagonists; peripheral unresponsiveness to hormonal action; and glandular hyperplasia and neoplasia. The majority of these defects can result in the same phenotype: ie, an endocrine deficiency state. Hormonal deficiency states are usually recessively inherited, whereas those involving glandular hyperplasia or neoplasia are usually dominantly inherited.


Twenty-year follow-up of a case of hypophosphatasia. A young girl, the first surviving patient recognized as having hypophosphatasia, has been observed from age 20 months to 21 years. She is in good health. Her height has followed the 3rd percentile track. The skeletal deformities imporved during early childhood while the more striking radiographic anomalies disappeared furing puberty. But the relative osteopenia has shown minimal improvement indicating that the basic defect in bone formation persists.


Metabolic disease in mental retardation: a study in Texas. Reported are the results of a study of patients admitted to the State Schools for the Mentally Retarded in Texas, over a two-year period from 1968-1970. Of 2029 cases, 185 were found on a detection battery screening to have possible metabolic disease. The report summarizes the findings on 93 cases studied in the metabolic ward at the Texas Research Institute.


Familial Addison's disease.

Familial Addison's disease. Familial prepubertal Addison's disease is presented in two sets of brothers. Predominance of males with normal sex differentiation, lack of defects in steroid biosynthesis and absence of antibodies and associated endocrinopathies, separate this entity from other forms due to enzyme deficiencies or disordered cellular immune response. Distributed as a Mendelian recessive characteristic, familial Addison's disease of childhood may represent a milder form of the same genetic disorder responsible for congenital adrenal hypoplasia of infancy.


Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis.


Congenital absence of the radius with hemifacial microsomia, ventricular septal defect and crossed renal ectopia.


Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Holoprosencephaly is frequently associated with facial dysmorphia and together these anomalies constitute a single developmental field. Because the abnormalities within this field represent a spectrum and because they may be associated with various patterned groups of extracephalic anomalies, they should not usually be considered a disorder sui generis, but a "symptom-complex" which may occur in a variety of disorders. Etiologic heterogeneity is a sine qua non of holoprosencephaly with facial dysmorphia. At the present time it is not known how many distinct formal genesis syndromes with holoprosencephaly and facial dysmorphia may exist for reasons cited in this paper. However, three distinct causal genesis syndromes (trisomy 13 syndrome, 18p- syndrome and Dq- syndrome) are known to occur. An autosomal recessive form also seems likely. Cytogenetic findings and various genetic possibilities are discussed. A pathogenetic hypothesis is presented in which holoprosencephaly with severe facial dysmorphia (synophthalmia or ocular hypotelorism, proboscis formation) is thought to arise from faulty embryonic interaction between the cephalic tip of the notochordal plate, the neuroectoderm of the brain plate and the oral plate.


Familial holoprosencephaly.

Familial holoprosencephaly. The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle.


Facial variability in Apert type acrocephalosyndactyly.


The Waardenburg syndrome.

The Waardenburg syndrome.


Anomalies of tooth numbers including peg-shaping. The congenital defects of hypodontia, peg-shaped teeth and hyperdontia appear to have a genetic basis. Peg-shaping is a modified expression of the same genotype as hypodontia. The defect is inherited as a dominant autosomal trait with variable expressivity. Third molars are the most frequently missing teeth. Both hypodontia and hyperdontia are found in a number of well-defined genetic syndromes and in most instances are common characteristics of the disease.


Fusion of lateral incisors as autosomal dominant trait.


Cryptodontic brachymetacarpalia.

Cryptodontic brachymetacarpalia. Cryptodontic brachymetacarpalia is presumably a new syndrome comprising a) shortened metacarpals and metatarsals, b) short terminal thumbs. c) short straight clavicles, d) multiple impacted teeth and e) autosomal dominant transmission. Affected individuals have a marked clinical similarity to patients with pseudohypoparathyroidism, but in cryptodontic brachymetacarpalis the somatic and mental growth is normal, cataracts and ectopic calcification are absent and there are no evident abnormalities in serum calcium, phosphorus or response to parathormone. A family is presented with proven male-to-male transmission.


Demonstration of the lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta. The present study is in agreement with the Lyon hypothesis as indicated by the random pattern of vertical bands of normal-appearing and hypoplastic enamel in the proposita and the mother. Further studies which would quantitate the amount of normal-appearing and hypoplastic enamel in a lage number of teeth with the X-linked hypoplastic type of amelogenesis imperfecta may provide further data in support of the Lyon hypothesis as it applies to this condition. Even though the methodology employed in this study involves nothing more sophisticated than pedigree analysis and clinical appraisal, it purports to demonstrate and support the validity of the Lyon hypothesis concerning amelogenesis imperfecta in man.


Cherubism: a family study to delineate gene action on mandibular growth and development. A family with autosomal dominant cherubism is described. Two brothers in a sibship of five who have each had two affected sons show none of typical clinical features of the disease. Their parents also appear unaffected. Roentgenographic study of the skulls of the grandfather and the two fathers of affecteds revealed previously unreported mandibular bone changes compatible with cherubism at an earlier age.


Aglossia-adactylia.

Aglossia-adactylia.


Monozygotic twins concordant for cleft palate.


Nosologic and genetic considerations in the aglossy-adactyly syndrome. A case of the aglossy-adactyly syndrome with a variety of associated anomalies and mental retardation suggests that the disorder may be a more complex dysmorphogenetic syndrome than is currently recognized. It is suggested that at least one and possibly two other conditions presently regarded as nosologically distinct from the aglossy-adactyly syndrome may, in fact, represent the same formal genesis syndrome. Because of the rarity of the condition, the failure to search for minor anomalies in first degree relatives and the lack of careful family histories in most cases, our present understanding of this syndrome is limited although etiologic heterogeneity seems likely.


Lip pits with cleft lip and palate.

Lip pits with cleft lip and palate.


Cleft lip/palate in the Waardenburg syndrome.


Diastrophic dwarfism with cleft palate.

Diastrophic dwarfism with cleft palate.


Ectrodactyly and cleft lip/palate.

Ectrodactyly and cleft lip/palate.


Cleft lip/palate with tetralogy of Fallot.


Apert's acrocephalosyndactyly in mother and daughter: cleft palate in the mother.


Cleft lip and palate with delayed eruption and congenital absence of teeth.


Facial cleft, facial hemiatrophy and congenital heart disease.


Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies.


Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son.


Orofaciodigital syndrome I (OFD I).

Orofaciodigital syndrome I (OFD I).


Orofaciodigital syndrome II (OFD II) in brother and sister.


The otopalatodigital (OPD) syndrome: (conductive deafness, cleft palate and anomaly of digits).


Idiopathic resorption of deciduous teeth in two brothers.


Gingival fibromatosis.

Gingival fibromatosis.


Aglossia-adactylia syndrome.

Aglossia-adactylia syndrome.


Microglossia, hypodontia, micrognathia, situs inversus.


Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism: EMG syndrome).


Moebius syndrome, ectrodactyly, hypoplasia of tongue and pectoral muscles.


Gardner syndrome.

Gardner syndrome.


Basal cell nevus syndrome.

Basal cell nevus syndrome.


Cleidocranial dysplasia (formerly cleidocranial dysostosis) with dental anomalies (two cases).


New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.


Pycnodysostosis.

Pycnodysostosis.


Trichorhinophalangeal syndrome in two sibs.


Craniofacial dysplasia (two cases).

Craniofacial dysplasia (two cases).


Syndrome of dental anomalies, curly hair and sclerotic bones.


Dentinogenesis imperfecta.

Dentinogenesis imperfecta.


The Wolf-Hirschhorn (4p-) syndrome.

The Wolf-Hirschhorn (4p-) syndrome.


Epidemiology and etiology of clefts.

Epidemiology and etiology of clefts. Epidemiologic and etiologic studies based on the international literature and Danish observations of 4500 patients show a steadily increasing incidence of human cleft deformities at birth. The incidence at present is nearly 2 per 1000. Heredity is the most important etiologic factor and is probably responsible for 25 to 50% of the cases depending on the type of cleft, whereas the influence of exogenous factors is still of unknown nature. Empiric risk figures and some examples of cleft syndromes are presented.


Genetic studies of a cleft palate clinic population. The genetic program at the Lancaster Cleft Palate Clinic is briefly described. The aim of the study is to obtain quantitative estimates of various components which contribute to genetic heterogeneity. Of 260 families interviewed, 26.1% of cleft lip, 42.5% of cleft lip and palate and 30.0% of isolated cleft palate propositi had one or more affected relatives. That isolated cleft palate is etiologically distinct from cleft lip with or without cleft palate is once again demonstrated. Eight of the cleft palate propositi are from mixed pedigrees with Van der Woude syndrome. While a majority of the familial cleft cases are compatible with the multifactorial hypothesis, five pedigrees of cleft lip and cleft palate propositi and one of a cleft palate propositus are in apparent agreement with the hypothesis of single autosomal dominant gene in each pedigree. No case of sex-linked inheritance was found.


Facial features associated with predisposition to cleft lip. Teratologic studies have led to the hypothesis that, in the mouse, face shape is the underlying basis for the susceptibility to cleft lip. To see if this may hold true in man superficial facial dimensions, face shape and relation of lips have been recorded in a series of parents of children with cleft lip and in a control population. Preliminary results suggest that there are differences between the two populations that support the hypothesis.


Submucous cleft palate.

Submucous cleft palate. Over 10,000 school children were screened for palatal abnormalities. Nine submucous clefts of the palate were detected, an incidence of 1 : 1,200. Speech defects, ear problems and hearing loss were found as complications in 55% of 50 submucous cleft palate patients studied in detail. Complications were less common (45%) if the palatal abnormality was an isolated defect. Proper management of submucous cleft palate depends upon knowledge of its incidence and natural history.


Pierre Robin syndrome occurring in two related sibships. Four children affected with Pierre Robin syndrome occurring in two related sibships are described. The fathers of these sibships are second cousins and both of them have deceased sibs with histories of respiratory or feeding difficulties or both, or cleft palate. Mode of inheritance suggested by these findings is autosomal dominant with variable expression and incomplete penetrance.


X-linked cleft palate.

X-linked cleft palate. Cleft lip with or without cleft palate is twice as frequent among Indians of British Columbia as among non-Indians, although the reverse is the case whenever we consider isolated cleft palate. A family is described with 12 affected males. Close examination of this family revealed that the most likely explanation for the cleft palate was an X-linked recessive gene. It is concluded that isolated cleft palate among the Indians of British Columbia is an extremely rare anomaly.


Cleft uvula: a microform of facial clefts and its genetic basis. Prevalence estimates of cleft uvula (CU) in two Amerindian populations (and sib analyses in one) were obtained and compared with estimates from other racial groups. The data and their analyses support the contention that CU is a microform of facial clefts. The relative and parallel frequencies of facial and uvula clefts in different races and the sib analyses are most consistent with a quasicontinuous polygenic basis for facial clefts and their microforms.


A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.


Cleft palate, stapes fixation and oligodontia--a new autosomal recessively inherited syndrome.


Genetic studies of cleft lip and palate in dogs. In a colony of Shih-Tzu dogs, familial cleft palate frequently associated with hind leg deformity was demonstrated. Colonies of dogs centered around purebred wirehaired terrier females or a mongrel collie male, both with isolated cleft palate did not result in cleft offspring with one exception. Reproductive fitness of a low order was encountered as expected. Difficulty was experienced in raising affected animals. Multiple associated congenital anomalies were found. These include convulsive disorders, clubfoot and dysgenesis of musculature of the thigh.


CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. Reported here is an inbred family of Dutch extraction in which there appears to be both a "new" autosomal dominant trait (the combination of curly hair, ankyloblepharon and nail dysplasia) and an autosomal recessive trait (an ataxia). The ataxia, seemingly an extrapyramidal disorder, was encountered in three of nine sibs and will be the subject of a separate report.


Congenital hypertrichosis universalis.

Congenital hypertrichosis universalis. Congenital hypertrichosis universalis is a rare familial disorder felt to be inherited as an autosomal dominant trait. The patient described below was noted to have excessive body hair at birth. The hairiness increased progressively. By two years of age, the patient's face, trunk and limbs were covered with long hair. Only the mucous membranes, palms and soles were spared. The patient's father and paternal grandfather were also noted to be hirsute at birth.


Phenotype-genotype correlations in epidermolysis bullosa. In Norway, epidermolysis bullosa (EB) has been studied from the clinical, genetic and epidemiologic viewpoints. Heterogeneity is found both in the EB simplex (EBS) and the EB dystrophica (EBD) group. One new EBS and two new EBD varieties were found in addition to previously known types. At least five nonidentical recessive EBD genes could be defined and suggestive evidence for allelism between some of them were found. A classification of hereditary EB is presented.


Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome. A syndrome consisting of congenital absence of skin, affecting the lower limbs, blistering of skin and mucous membranes and congenital absence and deformity of nails is described in a kindred. The mode of inheritance is that of a fully penetrant, autosomal dominant gene. Expressivity of the syndrome is variable.


Hypohidrotic ectodermal dysplasia with multiple associated anomalies. This report concerns an apparently sporadic case of hypohidrotic ectodermal dysplasia with associated congenital anomalies.


Xeroderma pigmentosum and pigmented xerodermoid. Xeroderma pigmentosum (XP) is a rare hereditary disease in which the skin is extremely sensitive to sunlight. After a slight exposure to sunlight the skin develops widespread poikiloderma including multiple hyperplasia and malignancies of epidermal and dermal origin. We could confirm Cleaver's results in finding dark repair replication very much reduced, not only in cultured fibroblasts, but also in epidermal cells and lymphocytes. Our investigation is based on three solitary cases of autosomal recessive inheritance. Working in this field, we found a condition similar to XP induced by excessive sun exposure of the skin over decades with manifestations after 30 years of age. We therefore term it "pigmented xerodermoid". Repair replication in epidermal cells seems to be normal. In our two cases we found a strong and almost total depression of DNA synthesis after application of low doses of UV light, while in normal skin the premitotic DNA synthesis is only reduced to a degree which is a function of irradiated energy.


Classification of albinism in man.

Classification of albinism in man. Genetic, tissue culture and ultrastructural studies demonstrate the heterogeneous nature of oculocutaneous albinism and a proposed classification based on these criteria is given. Six mutations are identified and the population frequencies of the common forms are determined. Some forms have, in addition to a pigment defect, abnormalities in platelets, glycolipids and chromosomes. In tyrosinase positive albinism, both in vitro and in vivo pigment formation can be induced by 1-tyrosine or 1-dopa.


Multiple self-healing squamous epithelioma. Multiple self-healing squamous epithelioma is determined by a rare autosomal allele in heterozygous state and affects both sexes with approximately equal severity. The lesions are found more frequently on exposed areas of skin and their distribution correspondingly differs between the sexes. Reliable information on 62 cases has been obtained in the west of Scotland. This number of patients is more than twice that recorded in the world literature. It seems possible that the Scottish cases have arisen from a single mutation occurring before 1790.


Familial reticuloendotheliosis with eosinophilia: a follow-up.


Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. A patient presenting with unilateral ectromelia, psoriasiform dermatosis and central nervous system abnormalities has been studied. Four similar cases have been reported in the literature. Autoradiographic studies of the turnover rate of epidermal cells in the patient's affected skin revealed markedly increased proliferative activity which is consistent with the diagnosis of psoriasis. Also consistent with this diagnosis was the response to a therapeutic trial of systemic methotrexate.


Conradi's disease: a case without cutaneous manifestations. The history and physical findings of a 23-day-old male child with Conradi's disease are presented together with dermatoglyphic and roentgenographic illustrations. The case is briefly discussed together with comments on course, prognosis and differential diagnosis.


Familial aggregation of a "new" connective-tissue disorder: a nosologic problem. Three brothers are described who had a severe connective-tissue disorder and died in infancy. They were the offspring of a consanguineous union and members of a kindred in which other paternal relatives were found to have the benign hypermobile form of Ehlers-Danios syndrome. The findings in the three brothers were not clearly representative of any known connective-tissue disorder. The authors feel that the brothers' phenotype is best explained as a result of genetic interaction between the Ehlers-Danios gene and another single unspecified gene in double dose.


Albinoidism in two brothers.

Albinoidism in two brothers.


Albinism.

Albinism.


Incontinentia pigmenti: multiple cases in two kindreds.


The Peutz-Jeghers syndrome.

The Peutz-Jeghers syndrome.


Raindrop hypopigmentation.

Raindrop hypopigmentation.


Ichthyosis vulgaris of the autosomal dominant type.


X-linked icthyosis vulgaris.

X-linked icthyosis vulgaris.


Ichthyosis hystrix.

Ichthyosis hystrix.


The Rud syndrome: ichthyosis, hypogonadism, mental retardation.


Zosteriform porokeratosis of Mibelli.

Zosteriform porokeratosis of Mibelli.


Darier's disease (keratosis follicularis) in two families.


Hypertrichosis of the Cornelia de Lange syndrome.


Macular anetoderma, secondary to lichen sclerosus et atrophicus, acanthosis nigricans and apocrine hydrocystoma in a man with phenylketonuria.


Transverse striae distensae in the lumbar area in father and two sons.


Chediak-Higashi syndrome in brothers.

Chediak-Higashi syndrome in brothers.


Monilethrix: three cases.

Monilethrix: three cases.


Frontonasal dysplasia with cutis aplasia congenita.


Cartilage-hair hypoplasia: two cases.

Cartilage-hair hypoplasia: two cases.


Hereditary koilonychia.

Hereditary koilonychia.


Disseminated hair follicle hamartoma.

Disseminated hair follicle hamartoma.


Pachyonychia congenita in father and son.


Epidermolysis bullosa simplex: a case in which tooth reimplantation was unsuccessful.


Vitiligo versus Waardenburg syndrome.

Vitiligo versus Waardenburg syndrome.


Hailey-Hailey disease (chronic benign familial pemphigus).


Erythropoietic protoporphyria.

Erythropoietic protoporphyria.


Lipoid proteinosis.

Lipoid proteinosis.


Hemifacial atrophy.

Hemifacial atrophy.


Hemifacial atrophy (the Romberg syndrome).


Rothmund syndrome.

Rothmund syndrome.


Pseudoxanthoma elasticum.

Pseudoxanthoma elasticum.


Xeroderma pigmentosum.

Xeroderma pigmentosum.


Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome.


Cutis laxa.

Cutis laxa.


The stiff skin syndrome.

The stiff skin syndrome.


Chondrodystrophia calcificans congenita (Conradi's disease) with cutaneous changes.


Acanthosis nigricans.

Acanthosis nigricans. Four types of acanthosis nigricans (a.n.) must be distinguished: "benign" a.n., pseudo a.n., a.n. as part of a syndrome and malignant a.n. These different types affect different age groups, follow different courses, are associated with different conditions, are or are not reversible, have or do not have a genetic basis and also show great differences in regard to their significance for the patient's life or well-being.


Sturge-Weber syndrome (encephalofacial angiomatosis).


Tuberous sclerosis with adenoma sebaceum of face and hypopigmented macular lesions of trunk.


Acanthosis nigricans, telangiectasia and diabetes mellitus.


Ataxia-telangiectasia in brother and sister.


Nevus comedonicus.

Nevus comedonicus.


Nevus lipomatosus superficialis.

Nevus lipomatosus superficialis.


The familial occurrence of multiple eruptive milia.


Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case.


Smooth muscle hamartoma.

Smooth muscle hamartoma.


Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters.


Branchial cleft sinuses.

Branchial cleft sinuses.


Acrodermatitis enteropathica.

Acrodermatitis enteropathica.


Cold hypersensitivity.

Cold hypersensitivity.


The biology of keratinization.

The biology of keratinization. This paper reviews current concepts of mammalian keratinization using human epidermis as an example. It is the essence of the report that biochemical data on keratinization processes are so scanty that most concepts are based on morphologic information. Recent electron microscopic contributions extending these concepts are useful only in a limited sense for comparison with the descriptions of some heritable abnormalities affecting keratinous epidermal structures.


Possible genetic heterogeneity of X-linked ichthyosis. A presumably "new" type of X-linked ichthyosis was observed in a kindred over three generations. Clinical and histologic findings are intermediate between  the autosomal dominant ichthyosis vulgaris and the classical X-linked form (type Wells-Kerr) of the disease. This may indicate genetic heterogeneity of X-linked ichthyosis or a wider clinical spectrum than previously assumed.


The genetics of human hair growth.

The genetics of human hair growth. The regulation of human hair growth is one of the most mysterious of biologic events. Genetic factors are responsible for the density, length, color and texture of hair. Heredity disorders can affect either hair alone, hair and other ectodermal structures, or can be pansystemic. This paper considers all heredity disorders which affect human hair growth. These disorders are divided into three categories: 1) the dysmorphic syndromes; 2) the modifier gene abnormalities and 3) the single major gene abnormalities. The disorders in these categories are listed, along with the mode of inheritance, cause, hair phenotype and the extent of involvement. The utilitarian function of the study of human hair growth is illustrated. Insight into problems of differentiation can be most rapidly expanded using this approach.


Congenital hair defects.

Congenital hair defects. Congenital hair defects are not just medical curiosities. Congenital hair defects and associated disease entities may represent different manifestations of a basic underlying metabolic defect. Abnormal hair should serve as a clue to other associated abnormalities particularly abnormal amino acid metabolism, neurosensory hearing loss, dental enamel hypoplasia and mental and physical retardation. With application of modern technics to the study of hair, new data have been obtained on the physical and biochemical properties of human hair.


The analysis of genetically determined hair defects. A classification of genetically determined hair defects based on pathophysiologic considerations is presented to facilitate research in this area. The categories in the classification are: 1) hair with periodic defects in structure; 2) complete or partial failure of hair development manifested by sparseness; 3) hairs with structural protein abnormalities and 4) defective hairs associated with metabolic defects. The methodologies for the study of hair are discussed including a new technic to directly measure Young's modulus of elasticity. A new autosomally dominantly inherited disorder with sparse hair and milia is presented.


The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Ectodermal dysplasia of the Clouston type is a disease caused by a single dose of an autosomal dominant gene. It appears to involve only the skin and its appendages. An investigation of the physical and chemical abnormalities of the hair protein in this disease is beginning to throw some light on the action of the gene involved.


Familial focal facial dermal dysplasia.

Familial focal facial dermal dysplasia. Familial focal facial dermal dysplasia is a disorder, autosomal dominant in its inheritance, characterized by areas of puckered skin at the temples with other areas of the face sometimes affected. The large family reported has 26 known affected individuals. The family considers "cancer of the stomach" as an hereditary trait, but their histories suggest some abdominal carcinoma, such as intestinal polyposis.


Guanine deaminase in the brain. I: Methods of determination.


Animal models of pigment and hearing abnormalities in man. The inherited syndrome of irregular depigmentation of the skin, hair, iris and ocular fundus with associated congenital defects of the inner ear resulting in hearing loss or deafness occurs in several different species including man. The "deaf white cat" provides a useful model of this syndrome. There are several genetic mechanisms involved. The deafness is sometimes progressive in the newborn period. The pathology suggests involvement of the neural crest.


The Leopard (multiple lentigines) syndrome revisited. The Leopard syndrome, an acronym, consists of the following features: L-lentigines (multiple), E-electrocardiographic abnormalities, O-ocular hypertelorism, P-pulmonary stenosis, A-abnormalities of genitalia, R-retardation of growth and D-deafness (sensorineural). In addition to the lentigines a few large dark café-noir spots may be scattered over the trunk. Electrocardiographic abnormalities include the S1, S2, S3 pattern and frequently there is pulmonary valvular dysplasia characterized by a pulmonary systolic ejection murmur but no ejection click. Some patients have had subaortic or subpulmonic defects. Others have had atrial septal defect. Hypospadias, cryptorchidism or absence of one ovary has been found. The syndrome is inherited as an autosomal dominant trait.


Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome. These brothers, the offspring of a consanguineous mating, were found to have short-limbed dwarfism, metaphyseal dysostosis, conductive hearing loss and mild mental retardation. This syndrome, which appears to be inherited as an autosomal recessive trait, is distinct from the previously described forms of metaphyseal dysostosis.


Symphalangism and deafness.

Symphalangism and deafness.


Diastrophic dwarfism with ossicle malformation.


Renal tubular acidosis and deafness.

Renal tubular acidosis and deafness.


Ear deformity and conductive hearing loss.


The Waarenburg syndrome in a kindred showing a "skipped" generation.


Hereditary low-frequency deafness.

Hereditary low-frequency deafness.


Hereditary midfrequency hearing loss.

Hereditary midfrequency hearing loss.


Two genetically distinct types of congenital recessive deafness, one Mennonite, one Amish.


Conductive deafness and palatopharyngeal incompetence in the Treacher Collins syndrome.


A syndrome of nerve deafness, eye anomalies and Marfanoid habitus with autosomal dominant inheritance.


Congenital nonprogressive moderate neural hearing loss.


Notes on hearing tests.

Notes on hearing tests. A short review of current practical hearing tests is given. Tests to differentiate conductive and sensorineural types of hearing loss are mentioned. Basic concepts are given which subdivide sensorineural hearing losses into those arising in the cochlea and those arising more centrally. The information is given as a simplified resume intended to be understandable by all interested in birth defects.


Syndromal approaches to the nosology of hereditary deafness. Seventy types of hereditary deafness can be distinguished using the following features of the syndrome: 1) mode of genetic transmission, 2) characteristics of the deafness, 3) age of onset, 4) sonic frequencies involved and 5) associated abnormalities. The gene, in single or double dose, causing the hearing loss may also cause abnormalities of the external ear, or of the integumentary, visual, nervous, skeletal, or urinary systems. In this report the characteristics of the hearing loss in each of the types of hereditary hearing loss are reviewed in eight tables.


Inner ear histopathology in genetically determined congenital deafness. Histopathology in seven cases with conegenital anomalies of the inner ear of varying degree are described. Five of these had bilateral and one unilateral deafness, with function undetermined in one. Five exhibited wide variation in degree of bony aplasia. All seven had some degree of membranous aplasia. One case presented the Wildervanck syndrome. The known anomalies were limited to the ears in six. Family history of deafness was negative in six, unknown in one. Diagnosis of probable genetic origin is based mainly on the type of pathology.


Congenital aural atresia: anatomy and surgical management. Malformations involving the ear may be part of a developmental anomaly of the first and second branchial arch or of a malformation syndrome involving other regions of the skeleton. The anatomy and pathogenesis are discussed, a classification is suggested, and the general management is outlined. A surgical technic for the treatment of Group II (moderately severe) aural atresia is described. Of 21 patients, treated surgically during the past 12 years, 15 patients (71%) gained serviceable hearing. In six patients hearing was not improved.


X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. An X-linked syndrome characterized in males by profound mixed deafness, vestibular abnormalities, congenital fixation of the stapes and perilymphatic otorrhea on attempted stapedectomy has been documented in a large Caucasian kindred. Female heterozygotes have similar but milder audiologic abnormalities. The syndrome of congenital fixation of the stapes with perilymphatic gusher may be a relatively common form of X-linked deafness and is an important clinical entity because affected males may be significantly benefited by sound amplification.


Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. A four-year-old Caucasian male with well-documented renal tubular acidosis, first noted in early infancy, was found to have profound hearing loss causing delayed speech development. The parents were first cousins, and three male half-sibs, each by a different father, were not affected. The findings suggest that the syndrome of renal tubular acidosis with deafness is a distinct nosologic entity that is determined by an autosomal recessive gene.


Hereditary bilateral acoustic neuroma (central neurofibromatosis). Fifty-five members of a kindred have bilateral acoustic neuroma. The trait is autosomal dominant with high penetrance. Onset is about age 20; survival varies from two to 42 years. In screening members, vestibular abnormalities are most consistently observed, but complete audiometric studies and brain scan are important, because no single study is diagnostically sufficient in all cases. Peripheral signs suggesting neurofibromatosis are rare, but other CNS tumors, often asymptomatic, are common suggesting this trait may represent a "central" form of neurofibromatosis.


Genetic approaches to the nosology of nervous system defects. The significance of genetics to the nosology of nervous system diseases has been shown in spastic paraplegias and spinocerebellar ataxias. At least about 60 different genetic types have been recognized to date. In most diseases, the genetic exploration and discrimination of types has been possible only by clinical, pathologic and simple genetic criteria like transmission. Further differentiation of genetic entities will be done especially through biochemical investigation.


Clinical aspects of globoid cell and metachromatic leukodystrophies. This paper describes the clinical, diagnostic, genetic and incidence aspects of globoid cell leukodystrophy and metachromatic leukodystrophy, the two least rare and most distinctive types among the leukodystrophies. It is based on experiences with 32 Swedish cases of globoid cell leukodystrophy (1953-1967) and 16 Swedish cases of metachromatic leukodystrophy (1956-1969). In both disorders it is now possible to make a correct diagnosis during life through various laboratory and biopsy procedures. An autosomal recessive inheritance is present in both of the disorders. The incidence of Krabbe's disease was found to be about 2:100,000 newborns in Sweden. The corresponding figure for metachromatic leukodystrophy is unknown at this time but is probably of about the same magnitude. This is the case in Northern Sweden.


Nosology of the leukodystrophies: ultrastructural contributions. Ultrastructural aspects of some of the conditions usually included as "leukodystrophies" are described. In metachromatic leukodystrophy, the most striking ultrastructural features include a variety of inclusions within cells some of which can be identified as oligodendroglia. Some inclusions were relatively amorphous while others possess a well-defined lamellar pattern. The fine structure of the globoid-epithelioid cells of Krabbe's disease differs from that of the usual macrophage and contains membrane-bound areas of relative translucency as well as abundant amorphous moderately osmiophiclic deposits. Epithelioid cells are seen in the perivascular spaces which favors their origin from mesodermal elements and is against their being derived from macroglia. In sudanophilic leukodystrophy there are macrophages which are not distinguishable from macrophages seen in areas of myelin destruction from whatever cause. In the spongy degeneration of infants, there is a peculiar myelin abnormality with splitting of the intraperiod line of the myelin lamellae and the existance of large abnormal mitochondria in astrocyte cytoplasm. There may also be vaculolization of significance within oliogodendroglia cytoplasm. The Rosenthal fibers seen in Alexander's type of leukodystrophy appear as osmiophilic masses in astroyte cytoplasm and probably consist of altered glial filaments.


Genetics, geography and intelligence in the torsion dystonias. Personal study of 137 individuals with torsion dystonia (TD) in 92 families, and review of 476 reported cases indicate that there are at least two hereditary forms of TD in addition to acquired dystonia. Autosomal recessive TD, with onset generally between the ages of 4 and 16 and rapid initial course, has been found in highest frequency in the Askenazim. Autosomal dominant dystonia is more variable in its time of onset and course and torticollis is frequently an early symptom. Families with this form are present in several populations. The psychometric performance of patients with autosomal recessive TD is superior to that of controls. In contrast, families in which the dominant form is segregating often contain individuals with below average IQ but this may be a social effect and reflect a limited choice of mates by members of such families.