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Biomedical subjects

S Weiss

Publications and source records attributed to S Weiss.

At least 217 records · Page 12Linked to original sources
PubMed1996

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to <2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores > or = to 3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing. As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness.

Chromosome Mapping↗
PubMed1996

[Histological study of cartilage channels in the epiphyseal cartilage of young dogs and their relationship to that of osteochondrosis dissecans in the most frequently affected locations].

Osteochondrosis is a disease occurring in many species of domestic animals. There are different factors like genetic predisposition, housing and feeding, trauma and stress, which are thought to be the causes or part of the causes of the disease. There have been studies about swine, finding a connection between cartilage channels in juvenile epiphyseal cartilage and the development of osteochondrosis. The aim of the study was to find out whether those connections exist in dogs as well. Special interest has been laid upon the localisation, the contents and the surroundings of cartilage channels as well as their relationship to the localisation of osteochondrosis. Joint surfaces, that are most often subject to osteochondrosis in the dog, have been examined macroscopically and histologically, e.g. the caput humeri, the medial part of the humeral condyle, the lateral condyle of the os femoris, the cochlea tibiae and the trochlea tali of 31 dogs at the age of three days to nine months. According to this examination cartilage channels can disturb the process of ossification of cartilage in the secondary centre of ossification, causing a thickening of cartilage layers. These changes can often be seen in locations, where osteochondrosis usually develops, especially in the caput humeri. Altogether they could be located more often in male animals and large breeds than in female animals and small breeds. To a certain degree these changes can be considered as normal in the development and growth of a young dog, but combined with other factors like trauma or stress, they may play a favoring role in the pathogenesis of osteochondrosis as well.

Animals↗
PubMed1995

Rat PPAR delta contains a CGG triplet repeat and is prominently expressed in the thalamic nuclei.

We have isolated a new rat sequence containing motifs of a nuclear hormone receptor from a brain cDNA library. The deduced amino acid sequence encoded by the cDNA clone showed a strong homology to the human NUCI and the mouse peroxisome proliferator activated receptor delta (PPAR delta). We therefore refer to this new clone as rat PPAR delta (rPPAR delta). The new feature of rPPAR delta is a 14 CGG triplet repeat on the 5' untranslated region, not previously reported in either NUCI or mPPAR delta. We found that rPPAR delta was expressed as a 3.5-kb transcript which showed a wide distribution in adult rat tissues. Abundant expression was detected in brain, heart, skeletal muscle, kidney and lung. Weaker expression was noted in the liver, spleen and testis. To determine the specific brain localization of rPPAR delta we performed in situ hybridization analysis. Prominent expression was observed in the thalamus, particularly in the posterior part of the ventral medial nucleus, a site responsive to pain and cold stress. These results raise the possibility that PPAR delta might play a role in modulating response to thermal and pain sensations.

Amino Acid Sequence↗
PubMed1995

Hyperexpression of listeriolysin in the nonpathogenic species Listeria innocua and high yield purification.

Listeriolysin, the hemolysin of the pathogenic species Listeria monocytogenes, was expressed in the non-pathogenic species Listeria innocua. Coexpression of the positive regulatory factor prfA in the plasmid vector in conjunction with the structural gene hly increased the expression over 500-fold. Purification from supernatant fluids was achieved by two steps of ion exchange chromatography. The procedure resulted in over 60% yield of a hemolytically active, homogeneous 58 kDa protein which was used to produce monospecific antibodies. As shown by immunoblot the purified listeriolysin was free of p60, a highly immunogenic protein of similar size also produced by Listeria spp., which otherwise would interfere with immunoassays. Listeriolysin retained full activity for more than 6 months at -70 degrees C.

Animals↗
PubMed1995

Longitudinal models for analysis of respiratory function.

We compare the results of fitting three longitudinal models, two autoregressive models (the serial correlation model and a damped autoregressive model) and a compound symmetry model, to data on a cohort of 1154 adult men in Boston. The serial correlation model assumes that the error terms are autocorrelated with correlation of the form lambda t for visits t years apart while the damped autoregressive assumes that the correlation between error terms of observations t years apart is of the form lambda t theta. The compound symmetry model assumes that the errors are correlated, with the same correlation regardless of how far apart observations are in time. These three models are all related in that the serial correlation and compound symmetry models are particular cases of the damped autoregressive models (that is, theta = 1 corresponds to the serial correlation model and theta = 0 corresponds to the compound symmetry model). For current smokers, the damped autoregressive model provided a significantly better fit than either of the other two models (p < 0.001); for never smokers the damped autoregressive and compound symmetry models were almost identical with both providing a significantly better fit than the serial correlation model (p < 0.001).

Adult↗
PubMed1995

The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter.

Cosmids containing the human IL-9 receptor (R) gene (IL9R) have been isolated from a genomic library using the IL9R cDNA as a probe. We have shown that the human IL9R cDNA as a probe. We have shown that hte human IL9R gene is composed of 11 exons and 10 introns, stretching over approximately 17 kb, and is located within the pseudoautosomal region of the Xq and Yq chromosome, in the vicinity of the telomere. Analysis f the 5' flanking region revealed multiple transcription initiation sites as well as potential binding motifs for AP1, AP2, AP3, Sp1, and NF-kB, although this region lacks a TATA box. Using the human IL9R cosmid as a probe to perform fluorescence in situ hybridization, additional signals were identified in the subtelomeric regions of chromosomes 9q, 10p, 16p, and 18p. IL9R homologs located on chromosomes 16 and 10 were completely sequenced. Although they are similar to the IL9R gene (approximately 90% identity), none of these copies encodes a functional receptor: none of them contains sequences homologous to the 5' flanking region or exon 1 of the IL9R gene, and the remaining ORFs have been inactivated by various point mutations and deletions. Taken together, our results indicate that the IL9R gene is located at Xq28 and Yq12, in the long arm pseudoautosomal region, and that four IL9R pseudogenes are located on 9q34, 10p15, 16p13.3, and 18p11.3, probably dispersed as the result of translocations during evolution.

Alternative Splicing↗
PubMed1995

Localization of the human B-type natriuretic peptide precursor (NPPB) gene to chromosome 1p36.

Cardiac myocytes synthesize and secrete a family of peptide hormones with potent natriuretic, diuretic, and vasodilatory properties. These peptides are derived from precursor molecules that are encoded by two different genes, the atrial natriuretic peptide precursor A (NPPA) and the B-type natriuretic peptide or natriuretic peptide precursor B (NPPB). A human genomic clone for the NPPB gene was used to determine the chromosomal location of the NPPB gene. Analysis of Southern blot hybridization to DNAs from various somatic cell hybrids and fluorescence in situ hybridization allowed assignment of the NPPB locus to human chromosome 1p36. This location coincided with that of the NPPA locus; pulsed-field gel electrophoresis placed NPPA and NPPB within 50 kb of each other. This close chromosomal linkage, together with the conserved primary sequences and structural organization of the two natriuretic peptide precursor genes, suggests that the natriuretic peptide loci may have evolved from a common ancestor gene.

Animals↗
PubMed1995

[Do Israeli adolescents know what they are drinking?].

We assessed knowledge of the strength of 7 different types of alcoholic beverages among 1052 high school students from kibbutzim and development towns in eastern Upper Galilee and the northern Golan Heights (northeastern edge of Israel). Only 0.85% of subjects reported correct alcohol content of all 7 types. There was a trend toward more accurate estimates of the alcohol content of distilled spirits and less accurate estimates for light beer. The estimates of girls were less correct than those of boys, and youth from kibbutzim were more correct in their answers than those from development towns.

Adolescent↗
PubMed1995

Listeriolysin generates a route for the presentation of exogenous antigens by major histocompatibility complex class I.

We have exploited the pore forming activity of listeriolysin, the hemolysin of Listeria monocytogenes, to activate CD8+ T cells with soluble proteins in vivo and in vitro. Immunization with soluble, hemolytically active listeriolysin induces both cytotoxic CD8+ T cells and CD4+ T cells, and the CD8+ T cells can be propagated with soluble listeriolysin in vitro. Moreover, conventional antigens like ovalbumin mixed together with listeriolysin are also efficiently introduced into the MHC class I pathway in vitro and in vivo. Hence, listeriolysin effectively directs itself and passenger molecules into the intracellular compartment that leads to the cytotoxic T cell response. In this way, we circumvent the bias of CD8+ T cells to recognize intracellular antigens presented by major histocompatibility complex class I molecules. As cytotoxic CD8+ T cells are of pivotal importance in eliminating viral and microbial pathogens, the findings reported here could prove to be useful in vaccine development.

Animals↗
PubMed1995

Reasons for non-drinking among Israeli adolescents of four religions.

Adolescent abstainers have largely been ignored in the literature. This article describes the reasons for not drinking of 2366 Israeli Jewish, Moslem, Druze and Christian adolescents in the north of Israel in the winter of 1994. It analyzes the findings by religious group, religiosity (secular versus religious Jews), location and gender of Jews, and school grade of Jews and Moslems. Harmful health consequences of alcohol use and religious injunction are the most prevalent reasons for abstinence among Moslems and Druze. Jews abstain mainly because of disliking the taste and/or smell of alcohol and because they 'do not care for it'. Christians abstain mainly because of the harmful effects of alcohol on health and dislike of its taste and/or smell. The implications of the results for prevention are discussed.

Adolescent↗
PubMed1995

Comparison of cardiac output measurements by thermodilution and thoracic electrical bioimpedance in critically ill versus non-critically ill patients.

Thoracic electrical bioimpedance (TEB) has been proposed as an alternative to thermodilution (TD) for the measurement of cardiac output in settings such as the Emergency Department where invasive monitoring is not available. Validation studies comparing TEB with TD suggest a wide range of variability in the agreement between the two methods. This prospective study tests the hypothesis that this variability may be related to the severity of patient illness. Fifteen non-critically ill patients undergoing cardiac catheterization and 13 critically ill patients who underwent Swan-Ganz catheterization in the medical intensive care unit (MICU) were enrolled. Fifty-one pairs of data from the catheterization laboratory and 49 pairs of data from the MICU were obtained. The patients were graded retrospectively according to the APACHE II scoring system. The mean difference (bias) between TEB and TD results was calculated for each patient using the method suggested by Bland and Altman. A pooled t-test was performed to determine whether there was any significant difference between the APACHE II scores or cardiac output measurements obtained by TEB and TD in the two groups. APACHE II scores were 4.7 +/- 1.2 for the catheterization laboratory and 14.2 +/- 5.0 for the intensive care unit patients (P < .001). The catheterization laboratory (cath lab) group bias was 0.23 +/- 2.19, whereas the MICU bias was .002 +/- 2.33. There was no significant difference in the bias between the two groups despite significant differences in the APACHE II scores. Standard deviations of the bias were less than 15% different from each other.(ABSTRACT TRUNCATED AT 250 WORDS)

APACHE↗
PubMed1995

Lithium and body weight gain.

Weight gain is an undesirable side-effect of long-term lithium administration which notably interferes with treatment compliance. The mechanisms of this weight gain remain unclear, making its management in patients difficult. In this paper, studies describing the features of this weight gain in patients and in rats treated with chronic lithium administration are reviewed. The effects of lithium on body weight differ between patients and rats in a number of ways, including the observation that excessive weight gain is observed in both male and female patients, but only in female rats. Nevertheless, an animal model of lithium-induced weight gain may be able to provide useful insights into some of the specific mechanisms involved, particularly those related to interactions with gonadal steroid function. We discuss the effects of lithium on the endocrine system, neurotransmitters, metabolism, electrolyte regulation, and feeding behavior, which might underlie lithium's effects on body weight. Finally, suggestions for the management of weight gain in the clinical setting are presented. These include, in the long term, dietary control and physical activity and, in the short term, choosing among several drugs that have been tested either in patients or in animal models of obesity. If weight gain still cannot be controlled and treatment compliance is at risk, the mood stabilizers carbamazepine or valproic acid might be substituted for lithium treatment.

Animals↗
PubMed1995

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a genetic cause. Some forms of inherited deafness are syndromic and affected individuals have a specific pattern of additional features while in other families the deafness is non-syndromic and there is no other recognizable phenotype. Analysis of several large families with syndromic and non-syndromic forms of deafness have been used in genetic linkage analysis to identify genes or gene locations that cause deafness. Here, we describe a large Middle-Eastern Druze family with recessive non-syndromic deafness and demonstrate linkage between deafness in this family and human chromosome 7q31 with a lod score exceeding 5.5. This is the first evidence for a gene at this location that causes deafness. In addition, we found that deafness in three other Druze pedigrees, one related to the linked family, is not linked to this chromosomal location. This suggests that there are multiple nonallelic mutations for deafness in this genetic isolate.

Cell Line↗