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Biomedical subjects

E Rosenmann

Publications and source records attributed to E Rosenmann.

216 records · Page 12Linked to original sources
PubMedDate not supplied

Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience.

Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caused by the lack of tyrosinase activity. Affected families seek genetic counseling and prenatal diagnosis as preventive measures. Until recently, prenatal diagnosis of OCA I was achieved by histologic and electron microscopic examination of fetal skin biopsies. Lately, a molecular genetic approach has become possible by the identification of the two mutated copies of the TYR gene, coding the tyrosinase, in which over 60 mutations have been identified. We report here our experience in prenatal diagnosis of OCA I using the two strategies. Thirty-four prenatal tests were performed in fetuses at risk for OCA I. In 31 cases the diagnosis was made in fetal scalp biopsies using the histological approach. The microscopic observations revealed normal melanogenesis in 26 biopsies. Five albino fetuses were diagnosed by the demonstration of arrest of melanogenesis in early stages I and II. In three pregnancies, molecular genetic tests were performed on DNA extracted from amniocytes, using direct mutation analysis (in one), and complemented by linkage analysis (in two). One albino and two normally pigmented fetuses were diagnosed. The prenatal molecular genetic test can be applied to families when at least one mutation is diagnosed in the albino patient. The histological approach is applicable in all families at risk for OCA I.

Albinism, Oculocutaneous↗
PubMedDate not supplied

Proline incorporation by cultured skin fibroblasts from patients with duchenne muscular dystrophy.

The incorporation of proline by cultured skin fibroblasts derived from normal individuals and patients with Duchenne muscular dystrophy (DMD) was analyzed by SDS-gel electrophoresis combined with a double-labeling procedure [Pediatr. Res., 12: 887 (1978)]. DMD fibroblasts showed increased proline incorporation into protein of approximately 130 000 daltons which could be degraded partially by collagenase. This difference was observed only at 7 days after seeding, and may be due to slight differences in growth rate as comparison of cells harvested at 2 and 7 days indicated that increased proline incorporation into high molecular weight protein was associated with day 7 cells, whether normal or DMD. During 14 days in culture normal and DMD strains did not differ in protein content, doubling time or incorporation of [3H]leucine and [14C]proline into cellular protein, although the ratio of [14C]proline to [3H]leucine incorporated was greater for DMD fibroblasts at 7 days. Incorporation of [14C]proline and [3H]leucine into extracellular proteins was greater in DMD fibroblast cultures. These subtle differences support the hypothesis that the DMD gene is expressed in fibroblasts.

Cell Differentiation↗
PubMedDate not supplied

Localization of glycogen in the placenta of diabetic rats: a light and electron microscopic study.

The ultrastructure of the placentae on day 20 of gestation was studied in rats made diabetic by streptozotocin injection on day 13 of gestation. In the placentae of control rats most of the glycogen was found in the glycogen cells, while some of it was localized to the labyrinth trophoblastic layers. In the diabetic rats a marked increase in glycogen content, together with higher numbers of glycogen cells in the junctional zone, was seen. Glycogen was also stored in other cell types of this zone, as well as in all cell types of the placental labyrinth of the diabetic animals.

Animals↗
PubMedDate not supplied

A 63-kDa protein with androgen-binding activity is not from the androgen receptor.

We have found a new protein in the heart of rat and mice that can be selectively and covalently labelled with the synthetic androgen analog mibolerone. Binding is specific as it can be displaced by excess radioinert ligand. The protein is prominently expressed in liver, kidney, and heart, but not in skeletal muscle. It is water soluble and found in the cytosol. Under denaturing conditions it has a molecular weight of 63,000 and appears on two-dimensional gels with an isoelectric point of 6.3. The protein's affinity for androgen is lower than that of the androgen receptor and it is about 100-fold more abundant than the receptor in the heart. Expression of the protein is not induced by androgen. The presence of this protein in testicular feminization (tfm) mice with a genetical defect of the androgen receptor rules out that it is the androgen receptor or a portion thereof. The biological role of this protein is not yet known.

Animals↗
PubMedDate not supplied

Tubular cell emboli in the glomerulus--a needle biopsy artifact.

In a needle biopsy specimen of the kidney, epithelial cells were found within the capillaries of a single glomerulus. These proved to be proximal tubular epithelial cells with their typical nuclei, mitochondria, lysosomes, junctional complexes, and brush border. Similar cells were also found in Bowman's space. This is an artifact of the needle biopsy in which tubular cells or cell fragments had been detached from the tubule by the needle and then pushed through the cut end of an arteriole into the glomerular capillaries and to Bowman's space.

Adolescent↗
PubMedDate not supplied

Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.

The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arab descent, are described. Hypocalvaria and hyperflexible joints were noted in addition to the renal lesion. A microdissection study demonstrated marked shortening of all the nephron segments from the glomeruli to the collecting tubules, rather than an isolated abnormality of the proximal convoluted tubules.

Consanguinity↗
PubMedDate not supplied

The effects of ionizing irradiation on production of thromboxane and prostacyclin by the isolated perfused rat kidney.

Exposure to whole body radiation is associated with prompt changes in urinary excretion of prostaglandins. We investigated the separate effects of radiation on rat kidney capillary and tubular system prostaglandin synthesis. Animals were irradiated to the left kidney area with a single dose of 15 Gy. One week later the rats were anesthesized, the renal artery, vein and ureter of the left kidney cannulated, and the kidney removed and perfused with Krebs-Henseleit physiological buffer at a rate of 10-12 ml/min. Effluent fluids were collected separately from the renal vein and from the ureter of irradiated and control (operated sham-irradiated animals) and were assayed by radioimmunoassays for thromboxane A2 (TXB2) and prostacyclin (6 keto PGF1 alpha). Histological examination of the irradiated kidneys showed no significant changes, and electron microscopy revealed minimal interstitial edema. In contrast to these minimal changes, TXB2 assays showed a significant increase both in the venous and ureter effluents. Following stimulation with angiotensin II in the perfusate, a further significant increase in TXB2 production was observed both by the capillary and the tubular systems. With 6 Keto PGF1 a slightly different response was seen. The basal production was increased only in the ureter effluent of the irradiated animals, while there were no changes in the release in the venous effluents. In parallel, radiation significantly increased the angiotensin II stimulated production capacity of prostacyclin by the tubular system. The response of the capillary system following irradiation may create imbalance between these two important substances and lead to the radiation effects in the renal tissue.

Animals↗
PubMedDate not supplied

Giant mammary hamartoma--case report and review of the literature.

A case of giant mammary hamartoma is presented. Macroscopically the tumor resembled giant fibroadenoma and cystosarcoma phylloides. Histological criteria for diagnosis include encapsulation, preservation of lobular integrity and the presence of adipose tissue. The radiological picture is described and the differential diagnosis discussed.

Adult↗