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Biomedical subjects

G Kohn

Publications and source records attributed to G Kohn.

At least 55 records · Page 3Linked to original sources
PubMed1984

Cystine accumulation and clearance in normal and cystinotic fibroblasts exposed to cystine dimethyl ester.

Exposure of cultured skin fibroblasts of normals and cystinotic patients to 0.5 mmol/l[35S]cystine dimethyl ester for 30 min resulted in an accumulation of cystine in excess to that naturally occurring in cystinotic skin fibroblasts. These equal levels of cystine accumulation achieved in both cystinotic and normal cells, permitted comparative experiments to look for differences in cystine disposal between normal and cystinotic cells. Cystinotic fibroblasts demonstrated very low cystine clearance with a lower ratio of cysteine-N-ethylmaleimide to cystine than normal. The results on cystinotic fibroblasts are consistent with those observed in leucocytes, suggesting that fibroblasts can be useful in further studies to elucidate the clearance defect of cystine in cystinosis as well as its potential in antenatal diagnosis.

Cells, Cultured↗
PubMed1984

Comparative study of cystine clearance in cystinotic and I-cell fibroblasts upon exposure to cystine dimethyl ester.

I-cell fibroblasts can accumulate cystine at levels comparable to those seen in homozygous cystinotic fibroblasts. Cystine accumulation in cystinosis is accounted for cystine clearance defect in situ. To unravel the question whether the same clearance defect or two different mechanisms cause cystine accumulation in I-cell disease, we used the cystine loading technique upon exposure of skin fibroblasts to radioactive cystine dimethyl ester. Normal, cystinotic and I-cell fibroblasts were exposed to radioactive cystine dimethyl ester, and the clearance of the generated radioactive cystine was measured. Cystinotic cells showed a marked defect in cystine clearance in situ, as compared to normal fibroblasts. In I-cell fibroblasts, we observed slow hydrolysis of cystine dimethyl ester to cystine, indicating low esterase activity, but no defect in clearance of the generated cystine. Cysteine production from the exogenous cystine dimethyl ester, presumably by cytoplasmic hydrolysis of the generated cystine, is normal in I-cell fibroblasts. Thus, our results indicate that, unlike cystinosis, there is no cystine clearance defect in situ for cystine in I-cell disease, and probably unrelated mechanisms cause cystine storage in cystinosis and I-cell disease.

Cell Line↗
PubMed1983

Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role.

Studies within the Arab population in Israel revealed 25 pseudohermaphrodites due to 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) deficiency. Twenty-three individuals, presently living in the Gaza strip, belong to a very large inbred kinship which extends over 8 generations. All affected subjects (46, XY) were born with mild to moderate degrees of ambiguity of an apparently normal-looking female genitalia and therefore were reared as girls. In childhood, genital abnormalities consisted of a clitoral-like phallus surrounded by a chordee, non-fused labial-scrotal folds and a urogenital sinus. The testes were in the inguinal canals, or rarely, in the labial-scrotal folds. Wolffian structures were normally differentiated while Mullerian structures were absent. At puberty, subjects developed a male body habitus with abundant body hair and beard. Gynecomastia was absent. The phallus and testes enlarged to adult proportions while the prostate remained small. Together with the physical change from girls to boys they developed a male identity having erections and ejaculations, which in 7 cases led to the spontaneous adoption of a male gender role. In adults the hormonal abnormalities consisted of greatly elevated delta 4-androstenedione (delta 4) (350-1267 ng/dl) associated with subnormal testosterone (T) levels (0.9-3.1 ng/ml). Dihydrotestosterone (DHT) levels, with the exception of 1 patient, were relatively low in all cases (27-35 ng/dl). Children had low levels of delta 4, T and DHT, which were normal for age. Although from puberty on there was a significant rise of the 3 androgens, delta 4 always remained extremely elevated and T and DHT relatively low when compared to normal controls. Dexamethasone failed to suppress the androgen pattern while HCG augmented the defect, making the diagnosis possible in 2 prepubertal children. Dehydroepiandrosterone (DHEA) and 17-hydroxyprogesterone (17-OHP) levels were normal or moderately elevated. Estradiol (E2) levels were normal in children and all but 2 adults, who had high levels. LH and FSH levels were very high after puberty, but normal before. However, there was an overresponse to LHRH in all age groups. The contrast between the lack of intrauterine virilization of the external genitalia in fetuses with 17 beta-HSD deficiency versus the marked masculinization that occurs after puberty still remains a puzzling phenomenon. It is conceivable that the postpubertal development of a male phenotype with change of gender identity and role occurs due to the joint effect of delta 4, T and DHT, even though secreted in inadequate proportions. Thus masculinization in these individuals is a slow process requiring a longer period of time than that of normal puberty to be completed.

17-Hydroxysteroid Dehydrogenases↗
PubMed1982

Mucolipidosis IV: prenatal diagnosis by electron microscopy.

Mucolipidosis IV (ML IV) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 unaffected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.

Adult↗
PubMed1981

Placental findings in spontaneous abortions and stillbirths.

Placentae and membranes of 360 spontaneous abortions and stillbirths were studied by light microscopy and compared to 100 induced abortions of 2-5 months gestation. The placental findings were correlated with morphological and chromosomal studies of the fetuses. A high incidence of hydatid degeneration was found in early spontaneous abortions (less than 12 weeks of age), especially in "blighted ova." "Atypical" stromal cells were found in the placental villi of early abortions with trisomy and triploidy. In late spontaneous abortions (13-18 gestational weeks) inflammatory lesions of the placentae were observed in over a third of cases and the incidence of hydatid degeneration was very low. The incidence of inflammatory lesions of the placentae was further raised in cases of early fetal death (18-24 gestational weeks), involving 60% of the placentae of fetuses without malformations. In stillborn infants, over 25 weeks of age, the incidence of inflammatory placental lesions dropped again, and the incidence of vascular lesions was raised to 50%. It seems that inflammatory lesions of the placentae may play an important role in the etiology of midtrimester spontaneous abortions. Isolation of the infectious microorganism and subsequent treatment may therefore reduce the rate of fetal losses in this group.

Abortion, Induced↗
PubMed1981

Prenatal diagnosis of Fanconi anemia.

Prenatal diagnosis was performed on a fetus at risk for Fanconi anemia. A high spontaneous (0.30 breaks/cell) and diepoxybutane-induced (0.69 breaks/cell) chromosome breakage rate indicated an affected fetus and the pregnancy was terminated. The anatomic findings in the aborted fetus together with cytogenetic findings in cultured fetal skin fibroblasts confirmed the prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1980

Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV.

Biochemical abnormalities similar to those observed in cultured fibroblasts of patients with mucolipidosis type IV were demonstrated in cultured amniotic fluid cells of two fetuses affected with mucolipidosis IV. Increased gangliosides and acid mucopolysaccharides were observed in the affected cultures when compared to two normal controls. Both GM3 (monosialo) and GD3 (disialo) gangliosides accumulated in the affected cells: the latter showing a three-fold and the former a two-fold increase over controls. The major mucopolysaccharide components were dermatan sulfate and heparan sulfate, both increased approximately four-fold. A partial, but significant deficiency of soluble ganglioside sialidase was observed in the two affected cultures, while this activity was normal in a culture of a non-affected fetus of the same mother in a third pregnancy. Non-soluble membrane-bound and neuraminlactose sialidase was not affected.

Amniotic Fluid↗
PubMed1980

Establishment in continuous culture of a T-lymphoid cell line (HD-Mar) from a patient with Hodgkin's lymphoma.

A new cell line, HD-Mar, was established from a pleural effusion of a patient with Hodgkin's lymphoma. Formation of E rosettes, sensitivity to anti-T serum, elevated terminal deoxynucleotidyl transferase activity, presence of T-cell and the common ALL membrane antigens, morphology, and cytochemical staining indicate that the HD-Mar line is of thymic derivation. Absence of any immunoglobulin determinants, the lack of EBNA or any other EBV-associated antigen or function are also characteristics associated with established T-cell-derived lymphoma cell lines. Karyotype analysis indicated a tetraploid origin of the cell line.

Adult↗
PubMed1980

Two conceptions in a 45,X woman.

We present a 31-year-old woman with a 45,X chromosome constitution who had had two miscarriages. This report brings to 11 the number of presumably non-mosaic Ullrich-Turner syndrome patients who have achieved pregnancy. A review of the literature indicates an increased incidence of chromosome abnormalities and a high rate of fetal death in offspring of such patients. However, in light of the fertility in these patients, genetic counseling should be reevaluated and perhaps amniocentesis recommended in successful pregnancies.

Adult↗
PubMed1980

Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads.

We report here the results of the endocrine studies and the morphological findings of the gonads in two male pseudohermaphrodite siblings with 5 alpha-reductase deficiency. Basal levels of luteinizing hormone, follicle-stimulating hormone, and prolactin were elevated and rose to very high levels in response to gonadotropin-releasing hormone and thyrotropin-releasing hormone,, when compared to those in normal males, while thyroid-stimulating hormone response was normal. Serum testosterone levels were within the normal range, and estradiol values were modestly elevated. Diagnosis was confirmed by lack of conversion of 3H-testoterone to 3H-dihydrotestosterone by fibroblasts taken from perineal skin. Pathologic examination of the testes in both patients disclosed tubular atrophy and complete arrest of spermatogenesis, with numberous hyperplastic Leydig cells containing large Reinke crystalloids.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1979

Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.

Chromosomal breakage in peripheral lymphocytes, cultured fibroblasts and long-term lymphoblastoid cell lines was investigated in five hitherto undescribed patients with ataxia telangiectasia (AT). Increased chromosomal instability was observed in lymphocytes and fibroblasts, and clones possessing a Dq+ marker were observed. Breakage rates were significantly higher in the fibroblasts than in the lymphocytes of AT patients or in similar tissues from patients with Bloom syndrome or Fanconi anemia. However, chromosome breakage in lymphoblastoid lines established from these five AT patients and six others did not differ from controls. These observations suggests that selection pressures, in vivo or in vitro, or both, act differently on the expression of chromosomal instability in these various cell types.

Abnormalities, Multiple↗