Biomedical subjects

E Pergament

Publications and source records attributed to E Pergament.

At least 73 records · Page 4Linked to original sources

PubMed1986

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.

Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy.

Anemia, Aplastic↗

PubMed1984

Chorionic villi sampling: a new technique for detection of genetic abnormalities in the first trimester.

Chorionic villi sampling (CVS) was performed on 22 patients who were at risk for a variety of genetic disorders between 8.5-11 weeks of gestation to determine whether the developing fetus had a chromosomal and/or biochemical disorder. A thin Portex catheter was passed transcervically into the chorion frondosum under constant real-time ultrasound guidance, and chorionic villi were obtained by gentle suction. The villi, which have the same genotype as the fetus, were processed directly for chromosomal and/or biochemical analysis. Results were available within six to 24 hours and were confirmed by short term cell cultures within three to ten days. One fetus affected with Tay-Sachs disease and one fetus with trisomy 16 were detected. There were no instances of fetal loss or major complications. In contrast to amniocentesis, the procedure is performed early in pregnancy and results of the genetic testing are available during the first trimester, which allows a first trimester termination of pregnancy if an abnormality is detected and greatly reduces parental anxiety if the findings are normal. We believe that CVS offers an alternative to amniocentesis in the detection of genetic disorders.

Catheterization↗

PubMed1984

"Map" of proteins resolved from human chorionic villi by two-dimensional electrophoresis.

Two-dimensional electrophoresis was applied to specimens of human chorionic villi obtained during the first trimester of gestation, the object being to simultaneously map several hundred polypeptide gene products. Genetically normal specimens were homogenized in a urea-based denaturant and the supernates were electrophoresed with use of the "ISO-DALT" system. Four categories of proteins are distinguished on the map: previously identified proteins present in chorionic villi and other cell types; unidentified proteins present in chorionic villi and other cell types; proteins present in chorionic villi and amniotic fluid but not in other cell types; and proteins probably originating from the amnio-chorionic plate. The reference map for chorionic villi provided in this study may serve as the basis of determining whether genetic analyses conducted in the first trimester accurately represent the fetal genotype.

Amnion↗

PubMed1983

Warburg syndrome.

Warburg syndrome is a congenital oculocerebral disorder. It is caused by a genetic defect that simultaneously affects ocular and cerebral embryogenesis. The characteristic ophthalmic findings reflect the cerebral malformation (agyria or lissencephaly). Two cases, siblings, have been described. The characteristic bilateral ocular findings (leukocoria with microphthalmia) have been discussed and contrasted with simulating entities. Since Warburg syndrome is a lethal disorder, it is important to distinguish these affected infants from those with hydrocephalus with a known better prognosis. Lastly, the early recognition of this autosomal recessive disorder should prompt genetic parental counseling.

Brain↗

PubMed1982

Dose- and time-response relationships of triethylenemelamine-induced chromosomal aberrations in rat bone marrow cells.

Groups of 18 male Sprague-Dawley rats were administered single i.p. doses of 0.00, 0.125, 0.25 or 0.50 mg/kg of triethylenemelamine (TEM). 6 rats per treatment group were killed 6, 24 or 48 h after dosing, and bone marrow cells were collected and prepared for cytogenetic analysis. Under the present conditions, 0.25 mg/kg with sampling of bone marrow cells 24 h after treatment appeared to represent optimal conditions for using TEM as a positive control agent in the rat in vivo cytogenetic assay as described.

Animals↗

PubMed1982

The hypereosinophilic syndrome and lymphoblastic leukemia with extra C-group chromosome and q14+ marker.

Hypereosinophilic syndrome is probably a disease of diverse etiologies. We studied the bone marrow of a patient with HES and found a population of L-1 lymphoblasts. These cells failed to grow in double-layer agar cultures, were "null cells," and contained a 14q+ marker chromosome consistent with a malignant lymphoproliferative disorder. Complete remission was induced with vincristine, prednisone, and L-asparaginase but the patient died from the consequences of cardiac fibrosis. An underlying lymphoproliferative process should be carefully sought in patients with HES to afford the best opportunity for cure.

Asparaginase↗

PubMed1980

Mutagenic potential of cis-dichlorodiammine platinum II in rodents.

The ability of cis-dichlorodiammine platinum II to cause chromosomal aberrations in rats and dominant lethality in mice was studied. Five daily intraperitoneal doses ranging from 0.25 to 2.00 mg/kg/day failed to result in the observance of dominant lethal mutations in mice. Intraperitoneal doses of 0.13 and 0.52 mg/kg/day for 5 days in rats did, however, cause chromosomal aberrations in bone marrow cells collected and harvested 24 h after the last dose. The incidence of total aberrations observed at the 0.52 mg/kg/day dose level was 5.5-fold greater than that seen for the vehicle control group. Thus, cis-dichlorodiammine platinum II appears to be clastogenic in rats.

Animals↗

PubMed1977

Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome.

Hypomelanosis of Ito (incontinentia pigment achromians, systematized achromic nevus) is a cutaneous abnormality consisting of bizarre, patterned, macular hypopigmentation over variable portions of the body surface. Multiple associated defects in other systems occur in a significant precentage of affected individuals. Most commonly, the central nervous system, eye, and musculoskeletal structures are involved. It is suggested that the cutaneous abnormality, which is often detectable at birth or during infancy, may forewarn pediatricians of the possible emergence of defects in other organ systems.

Abnormalities, Multiple↗

PubMed1977