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Biomedical subjects

J Nielsen

Publications and source records attributed to J Nielsen.

At least 505 records · Page 28Linked to original sources

Isochromosome Yq in a woman with atypical Turner's syndrome.

A female with 46,X,i(Yq) in all cells and a survey of previous cases of isochromosome Yq is presented. She was first admitted to hospital 15 years old due to nanismus and retarded sexual development. Gonadal dysgenesia was observed, and the diagnosis 'atypical Turner's syndrome' was applied. The patient, who presents only a few Turner stigmata, has been given cyclic estrogen treatment since the age of 16. She has developed normal secondary sex characteristics, cyclic bleedings and has attained normal height (161 cm). Since the age of 18 the patient has suffered various periods of anemia caused by gastrointestinal hemorrhage. This hemorrhage is probably due to intestinal teleangiectasiae which are found with increased frequency in patients with Turner's syndrome.

Adult↗

Inversion 19 and isochromosome short arm 17 or 18.

A case of inversion 19 and isochromosome short arm 17 or 18 has been studied, and the possibility of an increased risk of nondisjunction in persons with certain chromosome inversions is discussed.

Abnormalities, Multiple↗

Purification and properties of a cellulase from Aspergillus niger.

A cellulolytic enzyme was isolated from a commercial cellulase preparation form Aspergillus niger. A yield of about 50mg of enzyme was obtained per 100g of commerial cellulase. The isolated enzyme was homogeneous in the ultracentrifuge at pH 4.0 and 8.0, and in sodium dodecyl sulphate/polyacrylamide-gel electrophoresis but showed one major and two minor bands in disc gel electrophoresis. No carbohydrate was associated with the protein. Amino acid analysis revealed that the enzyme was rich in acidic and aromatic amino acids. Data from the amino acid composition and dodecyl sulphate/polyacrylamide-gel electrophoresis indicated a molecular weight of 26000. The purified enzyme was active towards CM-cellulose, but no activity towards either cellobiose or p-nitrophenyl beta-D-glucoside was detected under the assay conditions used. The pH optimum for the enzyme was pH 3.8-4.0, and it was stable at 25 degrees C over the range pH 1-9; maximum activity (at pH 4.0) was obtained at 45 degrees C. The cellulase was more stable to heat treatment at pH 8.0 than at 4.0. Kinetic studies gave pK values between 4.2 and 5.3 for groups involved in the enzyme-substrate complex.

Amino Acids↗

A case report of an autistic girl with an extra bisatellited marker chromosome.

Cytogenetic examination of a 14-year-old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congenital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and auto-aggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.

Adolescent↗

A census study of mental illness in Samsø.

Census data from the Danish island of Samsø have provided information on all but 20% of the population. Fifty per cent of the population with past or present mental illness had been referred to the psychiatric service during the 18-year-period 1957--74; the proportion varied from 85% for patients with psychoses (100% for schizophrenic patients, and 90% for manic-depressive patients) to 43% with non-psychotic disorders. The frequency of past and present mental illness was 24%, higher for women with manic-depressive disorders, psychogenic (reactive) psychoses, and neuroses. The possible reasons for these and other findings are discussed.

Adolescent↗

Sex chromosome abnormalities and cognitive performance: III. Field dependence, frame dependence, and failing development of perceptual stability in girls with Turner's syndrome.

The Rod-and-Frame Test (RFT) was administered to Turner girls (N = 45), their normal sisters (N = 19), and to nonsiblings with primary amenorrhoea and growth retardation as seen in Turner girls (N = 15). The test was scored by the traditional method which gives a measure of field dependence, as well as by a new method that gives a measure of frame dependence and response inconsistency. The traditional method showed Turner girls to be extremely field dependent. The new method showed that the so-called field dependence in Turner girls was due to response inconsistency, rather than to significant frame dependence. It is concluded that response inconsistency is a characteristic of RFT performance in Turner girls, probably reflecting failing development of "perceptual stability".

Adolescent↗

Follow-up 15 years after a geronto-psychiatric prevalence study. Conditions concerning death, cause of death, and life expectancy in relation to psychiatric diagnosis.

In relation to a follow-up 15 years after a geronto-psychiatric prevalence investigation of the population aged 65+ in a rural population, analysis has been made of the type of death certificate, residence at time of death, place of death, cause of death and life-expectancy in relation to psychiatric diagnoses prevalent in 1961.

Aged↗

Effect of bromocriptine on the premenstrual syndrome. A double-blind clinical trial.

Twenty-one patients suffering from the premenstrual syndrome were each studied during three menstrual cycles. After a control cycle, bromocriptine and placebo were given during the luteal phase of the cycle in a random double-blind cross-over manner, each patient serving as her own control. The dosage of bromocriptine was 2-5 mg twice daily. Serum prolactin levels were found to equal during the follicular and luteal phases, except when reduced by bromocriptine. Serum progesterone and oestradiol-17-beta were within normal ranges, and did not change during treatment. Medication considerably improved all the premenstrual symptoms, but mastodynia was the only one where bromocriptine was significantly better than the placebo.

Adolescent↗

Reactive paranoid psychosis in a 47, XYY male.

A case of a reactive paranoid psychosis in a 47, XYY male is presented. It is suggested that reactive psychoses in double Y males would tend to be of paranoid type. Detailed case reports in future studies are desirable in order to evaluate the type of reactive psychosis in 47, XYY males.

Adult↗

Twenty psychotic males with Klinefelter's syndrome.

Twenty males with Klinefelter's syndrome discharged from psychiatric hospitals with diagnoses classified as psychosis are presented. It is concluded that the higher frequency of psychoses in males with the Klinefelter syndrome most probably is due to reactive psychosis. Personality traits commonly found in these males may explain this. The importance of early diagnosis of the Klinefelter syndrome is stressed, as it is believed that treatment and advice in due time may prevent most of the reactive psychoses.

Adjustment Disorders↗