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Biomedical subjects

O M Rennert

Publications and source records attributed to O M Rennert.

At least 37 records · Page 2Linked to original sources
PubMed1996

Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1.

Five fatal cases of Japanese patients with type 1 Gaucher disease were studied. The causes of death included hemorrhage secondary to esophageal varices (two cases), respiratory distress (one case), hepatic failure (one case) and postoperative sepsis (one case). All of the patients had previous splenectomies, four patients had bone involvement and hepatic cirrhosis. The identified Gaucher genotypes were 1448C/1213G, 1603T/1603T, 1448C/1390G, and 1213G/1213G. The prognosis of type 1 Gaucher disease is generally good. We propose that patients with a similar clinical course and genotype to those presented in the present study should receive prompt comprehensive treatment. Patients with the 1213G mutation, pulmonary and liver involvement and a previous splenectomy should be considered as candidates for early vigorous treatment.

Adolescent↗
PubMed1995

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.

The prevalence of seven different mutations (84GG, IVS2 + 1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P), accounted for 26 alleles (40.6%); the second most prevalent mutation was 754A (F213I), accounting for 7 alleles (10.9%); 27 alleles (42.2%) were unidentified. To data, neither the 1226G (N370S) nor 84GG mutations have been identified in the Japanese population though these alleles account for approximately 70% and 10% of mutations in the Jewish population. These data suggest that mutant alleles identified from the Japanese population are distinct from those observed in Jewish and non-Jewish (European) patients with Gaucher disease.

Alleles↗
PubMed1995

Molecular genetics in pediatric training: how much do we really know?

A questionnaire was designed to assess the degree of knowledge among 44 residents and medical students in a pediatric residency program about recent advances in medical genetics. The mean score was 40% (4 correct answers per individual). There were no significant differences among the groups. The mean number of correct responses to each question was 13, but topics that had been highly publicized, especially in the lay press, were associated with more correct answers. Among residents and medical students, knowledge of the exact genetic defects of inherited diseases and their implications at the molecular and clinical levels may be limited.

District of Columbia↗
PubMed1993

Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.

A cDNA encoding human acid sphingomyelinase was initially obtained by screening a placental cDNA library in lambda gt11 with a synthetic oligonucleotide probe and subsequently with partial cDNA. The full-length cDNA, hPSM55, comprised 2,376 nucleotides, with a 5' untranslated sequence of 122 nucleotides, an open reading frame of 1,884 nucleotides encoding a protein of 627 amino acids, and a 3' untranslated region of 370 bases. hPSM55 was almost identical to pASM-1FL reported by Schuchman et al. (J. Biol. Chem. 266, 8531-8539, 1991) except for a 6 base pair deletion in the signal peptide, which indicated the possible removal of valine and leucine residues between positions 36 and 37, and a 463T- to C-transition, which indicated a possible substitution of 155arginine for cystine. This cDNA was expressed in both COS-7 cells and Chinese hamster ovary cells. There was no increase in acid sphingomyelinase activity in either cell line following transfection. However, the correction of a single base change, 463C to T, in hPSM55 caused increased acid sphingomyelinase activity in transfectants. These results suggest that the mutation of nucleotide 463C to T plays an important role in the catalytic activity of acid sphingomyelinase.

Amino Acid Sequence↗
PubMed1991

Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia.

Hyperostotic bone dysplasias are characterized by progressive hyperostosis and sclerosis of the cranium and facial bones. As a result of progressive bony overgrowth, intracranial pressure may increase and lead to brain and nerve compression, cranial nerve palsies, and an increased incidence of seizures. The long bones often exhibit defective modeling as well as variable degrees of metaphyseal and diaphyseal hyperostosis. In addition, the axial skeleton (including the pelvis) is often hyperostotic and sclerotic. The clinical features of these disorders may have relevance to the outcome of pregnancy; however, there are no reports on the management and pregnancy outcome of patients affected with hyperostotic bone disease. In this report, we describe the course of two pregnancies in a woman with craniodiaphyseal dysplasia (a rare craniotubular dysplasia). Prenatal assessment, method of delivery, choice of anesthesia, and neonatal management are discussed. Although this disorder is rare, the pathophysiologic considerations relevant to pregnancy outcome may be applicable to the management of pregnant women with other hyperostotic bone dysplasias.

Adult↗
PubMed1989

Characterization of the cDNA encoding human nucleophosmin and studies of its role in normal and abnormal growth.

A cDNA encoding human nucleophosmin (protein B23) was obtained by screening a human placental cDNA library in lambda gtll first with monoclonal antibody to rat nucleophosmin and then with confirmed partial cDNA of human nucleophosmin as probes. The cDNA had 1311 bp with a coding sequence encoding a protein of 294 amino acids. The identity of the cDNA was confirmed by the presence of encoded amino acid sequences identical with those determined by sequencing pure rat nucleophosmin (a total of 138 amino acids). The most striking feature of the sequence is an acidic cluster located in the middle of the molecule. The cluster consists of 26 Asp/Glu and 1 Phe and Ala. Comparison of human nucleophosmin and Xenopus nucleolar protein NO38 shows 64.3% sequence identity. The N-terminal 130 amino acids of human nucleophosmin also bear 50% identity with that of Xenopus nucleoplasmin. Northern blot analysis of rat liver total RNA with a partial nucleophosmin cDNA as probe demonstrated a homogeneous mRNA band of about 1.6 kb. Similar observations were made in hypertrophic rat liver and Novikoff hepatoma. However, the quantity of nucleophosmin mRNA is 50- and 5-fold higher in Novikoff hepatoma and hypertrophic rat liver, respectively, when compared with normal rat liver. Dot blot analysis also showed a nucleophosmin mRNA ratio of 64:5:1 in the three types of rat liver. When the protein levels were compared with Western blot immunoassays, Novikoff hepatoma showed 20 times more nucleophosmin, while only about 5 times more nucleophosmin was observed in hypertrophic rat liver than in unstimulated normal liver.

Amino Acid Sequence↗
PubMed1989

Familial congenital diaphragmatic hernia is an autosomal recessive variant.

Forty families that have had more than one sibling with a congenital diaphragmatic hernia have been identified. The 85 children among the 40 families describe a subset of congenital diaphragmatic hernia displaying an autosomal recessive inheritance mode. The chance of a diaphragmatic hernia among siblings within this subset is 25%.

Cohort Studies↗
PubMed1989

Dominantly inherited childhood gigantism resembling Sotos' syndrome.

Excessive growth in infancy and onset of puberty at age four was observed in a boy with features resembling Sotos syndrome. Early development of secondary sexual characteristics and advanced osseous maturation were observed. The family history was significant; excessive weight gain tended to occur in female family members in association with rapid growth in infancy and childhood. A delayed insulin response to glucose was observed in both mother and sister, and diabetes developed during his mother's gestation. These observations suggest that undetermined factors associated with excessive growth may be inherited as a dominant trait with variable expression.

Child↗
PubMed1988

Atypical Menkes steely hair disease.

Menkes steely hair disease (MSHD) is a rare disorder which typically results in severe mental retardation and death in early childhood. A 21-month-old boy with an atypical milder form was presented by Procopis et al. [1981]. A second child with the atypical form is presented here who has survived to age 9 years and is doing well clinically.

Brain Diseases, Metabolic↗
PubMed1988

Tissue zinc and copper levels in diabetic C57BL/KsJ (db/db) mice fed a zinc-deficient diet: lack of evidence for specific depletion of tissue zinc stores.

We investigated whether the decreased femur zinc concentrations reported in genetically obese diabetic db/db C57BL/KsJ mice reflected an increased propensity to zinc deficiency by determining zinc concentrations in tissues from 18-19-wk-old db/db and control mice following ad libitum feeding of a zinc-deficient diet (2 mg/kg) or restricted or ad libitum feeding of a zinc-adequate diet (20 mg/kg) for 12 wk. Although hepatic and renal zinc concentrations of db/db mice fed the zinc-deficient diet tended to be lower than in any other experimental group when expressed on a dry weight basis, zinc concentrations in these tissues were either not different from or greater than those of their nondiabetic controls when expressed on an ash weight basis, i.e., relative to all mineral constituents of these organs. Hepatic and renal copper concentrations of the diabetic db/db mice were either not different from or greater than those of their controls on an ash weight basis. Femur zinc concentrations of diabetic db/db mice fed zinc-adequate diets were lower than those of their controls on a dry weight basis but were not different from their controls on an ash weight basis. We found proportionately lower dry zinc, calcium and magnesium concentrations in femurs of the db/db mice fed a nonpurified diet than in femurs of their db/m and m/m controls. These findings suggest that the low femur zinc concentration reported in the diabetic db/db mouse probably reflects a generalized decrease in bone mineral content rather than a specific depletion of tissue zinc stores.

Animals↗
PubMed1988

Pregnancy-specific beta 1 glycoprotein mRNA is present in placental as well as non-placental tissues.

Six human SP1 clones were isolated from a term placental cDNA library by immunological screening. All six cDNA clones cross-hybridized. However, at least two classes of cDNA could be distinguished, based on the presence or absence of an EcoRI site in the insert. Northern blot analysis of human term placental mRNA with all six cloned inserts demonstrated the presence of two mRNA species of 1.6 and 2.4 kb, respectively. The amino acid sequences of tryptic fragments of pure human SP1 protein were determined for confirmation of the identity of these cDNA clones. Using one of the cloned cDNA as probe, two and ten hybridizing clones were isolated from a human testicular cDNA library and a HeLa cell cDNA library, respectively. Southern blot analysis of these clones showed strong hybridization with the SP1 cDNA probe under high stringency, indicating the presence of highly homologous mRNA species in these tissues.

Amino Acid Sequence↗
PubMed1988

Cytogenetic studies of renal cell carcinoma.

To examine the possibility that patients with renal cell carcinoma (RCC) have chromosomal abnormalities at a common gene locus, we undertook a study of patients with and without a history of hereditary disease as part of an ongoing population-based case-control study of risk factors in RCC. We identified 112 patients for cytogenetic study. Chromosome preparations were made from peripheral blood cultures with standard and giemsa (GTG) banding techniques. C-banding was used to determine C-polymorphism. Eighty-nine cases had completely normal male and female karyotypes. Twenty-seven of them had C-polymorphism. In 16 patients, random numerical and structural abnormalities were observed. In the remaining seven patients, four had mosaic karyotypes, and the other three showed structural abnormalities. There was no statistically significant difference in the frequency of the abnormal karyotypes between the hereditary and nonhereditary RCC patients. This concludes a negative cytogenetic study of RCC patients that failed to show any constitutional rearrangement in blood cells.

Adolescent↗