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Biomedical subjects

Y Weiss

Publications and source records attributed to Y Weiss.

At least 37 records · Page 2Linked to original sources

Overexpression of liver-type phosphofructokinase (PFKL) in transgenic-PFKL mice: implication for gene dosage in trisomy 21.

The human liver-type subunit of the key glycolytic enzyme, phosphofructokinase (PFKL), is encoded by a gene residing on chromosome 21. This chromosome, when triplicated, causes the phenotypic expression of Down's syndrome (trisomy 21). Increased phosphofructokinase activity, a result of gene dosage, is commonly found in erythrocytes and fibroblasts from Down's syndrome patients. We describe the construction of transgenic mice overexpressing PFKL for use as a well-defined model system, in which the effects of PFKL overexpression in various tissues, and throughout development, can be studied. Mice transgenic for a murine PFKL 'gene cDNA' hybrid construct were found to overexpress PFKL in a tissue-specific manner resembling that of the endogenous enzyme. Although unchanged in adult brain, PFK specific activity was found to have been almost doubled in brains of embryonic transgenic-PFKL mice, suggesting that the extra copies of the PFKL gene are expressed during the developmental period. This pattern of overexpression of PFKL in brains of transgenic-PFKL mice suggests that gene-dosage effects may be temporally separated from some of their consequences, adding an additional layer of complexity to the analysis of gene dosage in trisomy 21.

Aging↗

Isolation, chromosomal localization, and sequence analysis of human chromosome 21 zinc finger domains.

The zinc finger element is a conserved motif among a group of proteins involved in binding to nucleic acid. This motif has been detected in many regulatory factors and is highly represented in the human genome. To investigate the presence of zinc-finger-encoding genes on human chromosome 21, chromosome-specific libraries were screened with an oligodeoxynucleotide probe representing the conserved H-C link region between adjacent fingers. Three distinct genomic clones, designated ZF21-1, ZF21-2, and ZF21-3, were isolated and mapped to the long arm of chromosome 21 as well as to the heterochromatic short arm of several other chromosomes. DNA sequence analysis has shown that these genomic clones contain multiple zinc finger elements of the Kruppel type with only partial similarity to other known zinc finger genes. However, in each clone, few fingers were degenerated; they contain inframe stop codons and frameshifts that would preclude their translation. It seems therefore, that these chromosome 21 zinc finger sequences are not parts of functional genes. Nevertheless, the possibility that these domains are transcribed, and thus might have a regulatory role, is considered.

Animals↗

Prevalence of left ventricular systolic dysfunction in Duchenne muscular dystrophy: an echocardiographic study.

The prevalence and hemodynamic consequences of regional wall motion abnormalities (RWMA) were evaluated in 84 advanced-stage Duchenne muscular dystrophy (DMD) patients who underwent echocardiographic and systolic time interval (STI) examination. A satisfactory echocardiogram was obtained in 72 patients who were divided into two groups: group I (33 patients) had normal wall motion or minor changes, and group II (39 patients) had akinetic and/or dyskinetic areas. In group II, 15 patients had ventricular dilation; 8 of the 15 had a history of cardiac failure and 4 died during the study. Wall motion index (WMI), end-diastolic volume (EDV), and STI values increased significantly from group I to group II. In the whole group, a strong correlation was found between WMI and STI ratios. This study demonstrates a high prevalence of RWMA and supports the viewpoint that RWMA, consequences of the myopathic process, result in progressive left ventricular dilation, heart failure, and cardiac death.

Adolescent↗

Prevalence of hepatitis B virus markers among hospital personnel in Israel: correlation with some risk factors.

During 1986-1987, 480 employees of the Tel-Aviv Medical Center were screened for hepatitis B virus (HBV) markers as a preliminary step in a vaccination campaign. One hundred and seventeen (24.4%) had evidence of previous infection, including nine (1.9%) carriers. The effect of potential risk factors on seropositivity was evaluated by multiple logistic regression analysis, which enabled assessment of the individual contribution of each risk factor under the specific environmental conditions. The following risk factors were found to influence seropositivity: origin from Third World countries as opposed to the Western World, employment as sanitary workers, age over 40 years, and history of accidental needle punctures. In the heterogeneous Israeli population, hospital workers had a relatively high prevalence of HBV markers, probably resulting from occupational exposure.

Adult↗

Protein kinase C (PKC) level is increased in PC12 cells overexpressing transfected liver-type phosphofructokinase.

PC12 cells which overexpress transfected liver-type phosphofructokinase (PFKL) have previously been described as a model system for PFKL overexpression in Down's syndrome and have been shown to perform glycolysis at enhanced rates. Here we report that levels of protein kinase C (PKC) in PC12-PFKL cells were almost doubled, as estimated from in vitro activity and phorbol ester binding experiments and from an increase found in PKC-alpha mRNA levels. Most of the added PKC was found to be associated with the cellular membrane while the cytoplasmic levels of PKC were barely increased. The steady-state levels of 1,2-sn-diacylglycerol in PC12-PFKL cells were found to be unaltered, suggesting that enhanced glycolysis in these cells did not influence PKC by altering the amounts of this compound. PFKL is one of several genes known to be overexpressed in Down's syndrome. Upregulation of PKC due to PFKL overexpression could result in widespread disturbances of gene expression and play a part in causing some of the many symptoms of the disease.

Animals↗

A first instance of human philophthalmosis in Israel.

Conjunctivitis due to the trematode Philophthalmus in a 13-year-old Israeli girl is described. A single worm, probably a mature Philophthalmus palpebrarum, was detected on the palpebral conjunctiva of the upper eyelid of the right eye. Removal of the worm resulted in rapid abatement of the ocular symptoms. This is the first documentation of human philophthalmosis in Israel.

Adolescent↗

Transfers among divorced couples: evidence and interpretation.

An analysis of the economic impact of divorce settlements in the United States is presented using data for a white cohort taken from the National Longitudinal Study of the High School Class of 1972. "The effects of spouses' incomes on the divorce transfer are estimated and used to simulate the welfare effects of divorce on husbands, wives, and children under alternative assumptions about marriage contracts and the ability of a couple to continue coordinating resources in the aftermath of divorce. We find a positive (negative) relationship between divorce transfers and the growth of husband's (wife's) earnings during marriage. The estimated expenditure on children in the divorce state is only half the accustomed level during marriage."

Adolescent↗

Teaching bedside interviewing skills in a social work training program.

Teaching interviewing skills has become a permanent feature of the training of social workers, although no standardization exits for interview training. At a learning center established through a collaborative effort between Haifa University and the Kupat Holim, an effective program for teaching bedside interviewing skills was established.

Adult↗

Maintenance of blood pressure control in elderly hypertensives on ketoprofen.

In elderly patients, nonsteroidal anti-inflammatory drugs (NSAIDs) are often used concomitantly with antihypertensive agents. It is therefore important to assess the potential for interactions between NSAIDs and these agents. In a double-blind, placebo-controlled study, 40 elderly hypertensive patients treated with acebutolol or atenolol, together with frusemide, were randomized to receive either ketoprofen, 200 mg/day (50 mg q.i.d.), or matching placebo for 7 days. Arterial blood pressure and heart rate were monitored for a 24-hour period at baseline and at the end of treatment. Standard sphygmomanometric measurements of blood pressure and heart rate were conducted twice a day during the study. No clinically significant side effects or blood pressure or heart rate alterations were observed during the trial. The results indicate that ketoprofen does not interfere with blood pressure control in elderly hypertensive patients being treated with a combination of beta-blockers and diuretics.

Acebutolol↗

Traumatic central retinal artery occlusion.

A healthy 6-year-old boy with a clinical picture of central retinal artery occlusion (CRAO) of his left eye is presented here. The underlying cause was a trauma to the boy's left cheek some 6 months earlier. Possible pathophysiological mechanisms are discussed. To the best of our knowledge, the late onset of traumatic CRAO has not yet been reported in the literature.

Blindness↗

Distribution and possible abnormality in antigenic composition of sodium channels in peripheral axons of dystrophic mice.

In some dystrophic mice (Bar-Harbour 129 dy/dy), axons of the sciatic nerve are a-myelinated but are capable of carrying action potentials. In this study, we showed by immunofluorescence that such excitability is supported by the presence of voltage-gated sodium channels along the a-myelinated axon. In addition, the number of sodium channels measured by radioimmunoassay in sciatic nerves of these dystrophic mice is significantly higher. Furthermore, the composition of sodium channel epitopes is abnormal. This suggested a link between the disease and the biogenesis of the sodium channels.

Animals↗

Paracecal hernia: a cause of intestinal obstruction.

During a two-year period, five patients were treated by us for acute intestinal obstruction caused by an incarcerated paracecal hernia. All patients underwent surgery early, so none required bowel resection. The possibility of an internal hernia as a cause of intestinal obstruction and a profound knowledge of the pericecal anatomy, however, are necessary for successful diagnosis and treatment of paracecal hernias.

Adult↗

[Incidence of antinuclear antibodies during treatment with acebutolol. A 1-year prospective study in 45 hypertensive patients treated by monotherapy].

Determinations of antinuclear antibodies (ANA) were performed before treatment, then every 3 months for one year, in 45 hypertensive patients treated with acebutolol alone in daily doses equal or superior to 800 mg. Non significant ANA titers (1/10 to 1/40) were detected before treatment in 8.8% of the patients. After one year of treatment, 15.5% of the patients were found to have antinuclear antibodies. In 4 (8.8%) female patients (3 of whom were ANA-negative before treatment) the ANA titers were above 1/40. Treatment was discontinued in one of these due to the occurrence of bronchospasm. No lupus-like syndrome was observed during the course of the study. Prolonged prospective studies with acebutolol alone would be required to determine whether in the long term the incidence of significant ANA titers remains at the 8.8% level or increases.

Acebutolol↗

Clinical-echocardiographic correlations in acute rheumatic fever.

Thirty-three children with acute rheumatic fever were studied using echocardiography to characterize heart involvement in this disease. Among 26 subjects with a first episode of acute rheumatic fever, 18 had a clinical diagnosis of carditis and six had heart failure. Heart failure usually resulted from valvular incompetence rather than from myocardial failure in these patients. Conversely, among seven subjects with recurrent rheumatic fever, five had a clinical diagnosis of carditis and four had heart failure. Severe left ventricular dysfunction noted on echocardiography probably contributed significantly to the appearance of heart failure in two of these four subjects. Ten patients were initially believed not to have carditis: a diagnosis of mitral valvulitis was made in two of these ten on the basis of the results of the echocardiographic examination. Echocardiography, which provides important information on the cardiac status of patients with acute rheumatic fever, may help in assessing the prognosis and may be useful in the therapy of these patients.

Adolescent↗