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Biomedical subjects

A Szeinberg

Publications and source records attributed to A Szeinberg.

At least 19 recordsLinked to original sources
PubMed1997

The critical first six months in cystic fibrosis: a syndrome of severe bronchiolitis.

The syndrome of infantile bronchiolitis in cystic fibrosis (CF) carries a high mortality. Fifteen cases of CF encountered over the past 19 years with severe bronchiolitis with onset during the first 6 months of life are described. Treatment include steroids in high doses. All patients recovered. Further progress resembled the usual natural course of CF and showed no evidence of persisting lung damage. The mechanism of this syndrome is not clear and is probably dependent on many factors involved in early lung disease in CF. The frequency of severe bronchiolitis in cystic fibrosis may not be high, but it continues to be seen in clinical practice today.

Bronchiolitis↗
PubMed1997

Nephrotic syndrome and fibrillary glomerulonephritis.

A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal failure. In addition, she complained of blurred vision and there was a purpuric skin eruption localized to her legs. A renal biopsy revealed fibrillary glomerulonephritis. Skin biopsy demonstrated swelling of capillary endothelium, thickening of arteriolar walls and deposition of IgA, C3 and fibrinogen by immunofluorescence. Opthalmoscopy and fluorescein angiography disclosed cotton wool spots with intraretinal haemorrhages and ischaemia of the macula. Albumin infusions resulted in worsening of eye symptoms and signs. The presence of these three clinicopathologic entities in a patient with CF may indicate the possibility of systemic involvement related to continued exposure to chronic bacterial lower lung infection.

Adult↗
PubMed1997

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

OBJECTIVE: Cystic fibrosis (CF) has variable clinical presentation. Disease severity is partially associated with the type of mutation. The aim of this study was to report genotype-phenotype analysis of the G85E mutation. PATIENTS: The phenotype of 12 patients (8 were from the same extended family, and 5 of them were siblings from 2 families) carrying at least one copy of the G85E mutation was evaluated and compared with the phenotype of 40 patients carrying the two severe mutations, W1282X and/or DeltaF508 (group 1), and with 20 patients carrying the splicing mutation, 3849+10kb C->T, which was found to be associated with milder disease (group 2). RESULTS: A high phenotypic variability was found among the patients carrying the G85E mutation. This high variability was found among patients carrying the same genotype and among siblings. All the studied chromosomes carrying the G85E mutation had the 7T variant in the polythymidine tract at the branch/acceptor site in intron 8. Of the G85E patients, 25% had pancreatic sufficiency and none had meconium ileus, compared with 0% and 32%, respectively, of patients from group 1, and 80% and 0%, respectively, from group 2. Two patients carrying the G85E mutation had sweat chloride levels <60 mmol/L whereas all the others had typically elevated levels >80 mmol/L. Compared with group 2, patients carrying the G85E mutation were diagnosed at an earlier age and had higher sweat chloride levels, with mean values similar to group 1 but significantly more variable. Forced expiratory volume in 1 second (FEV1) was similar in the three groups, with no differences in the slope or in age-adjusted mean values of FEV1. The levels of transcripts lacking exon 9 transcribed from the G85E allele measured in 3 patients were 55%, 49%, and 35% and their FEV1 values were 82%, 83%, and 50% predicated, respectively. CONCLUSIONS: The G85E mutation shows variable clinical presentation in all clinical parameters. This variability could be seen among patients carrying on the other chromosome the same CFTR mutation, and also among siblings. This variability is not associated with the level of exon 9 skipping. Thus, the G85E mutation cannot be classified either as a severe or as a mild mutation.

Age of Onset↗
PubMed1996

Spontaneous pneumomediastinum in children: clinical and natural history.

UNLABELLED: Investigation of the clinical characteristics and natural history of nine children with spontaneous pneumomediastinum (SPM) was conducted at the Tel Aviv University Sheba Medical Centre between 1984 and 1994. Most cases occurred in the setting of a valsalva-type manoeuvre, while symptoms and signs on admission were mainly chest pain, dyspnoea, neck pain, subcutaneous emphysema, and Hamman's sign. Three clinical patterns concerning longterm sequelae were identified: patients without any long-term sequelae, patients with a tendency to airway hyperreactivity and subclinical asthma, and patients in whom SPM was the presenting feature of their asthma. CONCLUSION: Close personal follow up, including pulmonary function tests, should be designed for all children with Spontaneous pneumomediastinum.

Adolescent↗
PubMed1995

The significance of sweat Cl/Na ratio in patients with borderline sweat test.

Recently a few cystic fibrosis (CF) patients with borderline or normal sweat tests have been reported. These patients present a diagnostic challenge. We aimed to study the sweat Cl/Na ratio in cystic fibrosis patients and to assess whether this ratio could be used as a diagnostic criteria. The mean sweat Cl/Na ratio of 3 groups was compared: Group A: 71 CF patients carrying 2 mutations known to be associated with severe disease presentation (delta F508, W1282X, G542X, N1303K, 1717-1G --> A). Group B: 10 compound heterozygous patients who carry one mutation associated with mild clinical disease (3849 + 10 kb --> T). Group C: 142 normal subjects. Sweat chloride levels higher than those of sodium were found in 96% of patients in Group A as compared to 3% of patients in Group C. In Group B 40% of the patients had sweat chloride levels higher than or equal to sodium levels. The mean Cl/Na ratio of Group A (1.2 +/- 0.1) differed significantly from that of Group B (0.94 +/- 0.1) and both groups had significant higher mean Cl/Na ratio compared to Group C (0.7 +/- 0.4) (P < 0.001). Thus in individuals with a borderline sweat test and a Cl/Na ratio > or = 1 the diagnosis of CF should be considered. However, a Cl/Na ratio < 1 does not exclude CF, since patients carrying mild mutations may have sweat sodium levels higher than those of chloride. Our findings suggest that the sweat Cl/Na ratio in CF is genetically determined and it may be of help in establishing the diagnosis of CF in patients with a borderline sweat test.

Child↗
PubMed1995

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

The incidence of cystic fibrosis (CF) and the frequency of disease-causing mutations varies among different ethnic and geographic populations. The Jewish population around the world is comprised of two major ethnic groups; Ashkenazi and non-Ashkenazi. The latter is further classified according to country of origin. In this study, we analyzed the incidence of CF and the distribution of CF mutations in the general Jewish population in Israel and in most of the Jewish ethnic subgroups. The disease frequency varies considerably among the latter. Among Ashkenazi Jews, the frequency of CF is 1:3300, which is similar to the frequency in most Caucasian populations. Among non-Ashkenazi Jews, the disease occurs at a similar frequency among Jews from Libya (1:2700), Georgia (1:2700), Greece and Bulgaria (1:2400), but is rare in Jews from Yemen (1:8800), Morocco (1:15000), Iraq (1:32000), and Iran (1:39000). So far, only 12 mutations have been identified in Israeli Jews, and this enables the identification of 91% of the CF chromosomes in the entire Jewish CF population. However, in each Jewish ethnic group, the disease is caused by a different repertoire of mutations. The frequency of identified mutations is high in Ashkenazi Jews (95%), and in Jews originating from Tunisia (100%), Libya (91%), Turkey (90%), and Georgia (88%). However, a lower frequency of mutations can be identified in Moroccan (85%), Egyptian (50%), and Yemenite (0%) Jews. For genetic counseling of a Jewish individual, it is necessary to calculate the residual risk according to ethnic origin. Carrier screening of healthy Jewish individuals is currently feasible for Ashkenazi Tunisian, Libyan, Turkish, and Georgian Jews. These results provide the required information for genetic counseling of Jewish CF families and screening programs of Jewish populations worldwide.

Africa, Northern↗
PubMed1995

HLA-B5 in the diagnosis of Behcet's disease.

Behçet's disease, a multisystem disease is, by its nature, difficult to diagnose. The first manifestation of the disease may precede the appearance of other symptoms and signs essential for diagnosis by many years. In patients of Mediterranean origin, the early manifestations of the disease, may be confused with those of familial Mediterranean fever (FMF). Determination of HLA-B5 may, however, contribute to the diagnosis in children with partial manifestations of Beh,cet syndrome.

Adolescent↗
PubMed1994

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.

The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). Our findings suggest that CBAVD patients with renal malformations do not necessarily have cystic fibrosis.

Cystic Fibrosis↗
PubMed1994

[Endobronchial mass caused by tuberculosis].

A 2-year-old girl who presented with cough, had been started on prednisone and bronchodilators 10 days prior to admission because of presumed hyperactive, small airway obstruction. Fluoroscopy revealed hyperinflation of the right lung and mediastinal shift to the left on expiration. Bronchoscopy disclosed an endobronchial mass. At that time the tuberculin test was negative. Since such lesions are rare in young children, thoracotomy was performed. An enlarged mediastinal lymph node was removed and the histopathological findings were suggestive of tuberculosis. The tuberculin test 1 month following prednisone therapy was positive, suggesting that previously the skin reaction to tuberculin had been altered by the prednisone. Tuberculosis should be considered in the differential diagnosis of an endobronchial mass even in an otherwise apparently healthy child.

Airway Obstruction↗
PubMed1994

Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

The effect of nonsense mutations on mRNA levels is variable. The levels of some mRNAs are not affected and truncated proteins are produced, while the levels of others are severely decreased and null phenotypes are observed. The effect on mRNA levels is important for the understanding of phenotype-genotype association. Cystic fibrosis (CF) is a lethal autosomal recessive disease with variable clinical presentation. Recently, two CF patients with mild pulmonary disease carrying nonsense mutations (R553X, W1316X) were found to have severe deficiency of mRNA. In the Jewish Ashkenazi CF patient population, 60% of the chromosomes carry a nonsense mutation, W1282X. Patients homozygous for this mutation have severe disease presentation with variable pulmonary disease. The presence of CF transcripts in a group of patients homozygous and heterozygous for this mutation was studied by reverse transcriptase PCR of various regions of the gene. Subsequent hybridization to specific CF PCR probes and densitometry analysis indicated that the CF mRNA levels in patients homozygous for the W1282X mutation are not significantly decreased by the mutation. mRNA levels were compared for patients heterozygous for the W1282X mutation. The relative levels of mRNA with the W1282X, and the delta F508 or the normal alleles, were similar in each patient. These results indicate that the severe clinical phenotype of patients carrying the W1282X mutation is not due to a severe deficiency of mRNA. In addition, the severity, progression, and variability of the pulmonary disease are affected by other, as yet unknown factors.

Alleles↗
PubMed1993

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.

Different mutations in the cystic fibrosis (CF) gene appear to contribute to heterogeneity of the CF phenotype. We investigated 15 patients with CF who have the 3849 + 10 kb C-->T mutation. All were Ashkenazi Jews. Their clinical features were compared with those of CF patients with the delta F508/delta F508, W1282X/W1282X, W1282X/delta F508 mutations, which are known to be associated with a severe disease. Patients with the 3849 + 10 kb mutation were older, had been diagnosed as having CF at a more advanced age, and were in a better nutritional state. Sweat chloride values were normal (below 60 mmol/L) in 5 3849 + 10 kb patients (33%). 4 of these patients and 6 others (total 66%) had normal pancreatic function. However, age-adjusted pulmonary function did not differ between the two groups. None of the patients with 3849 + 10 kb C-->T had had meconium ileus or had liver disease or diabetes mellitus. We conclude that this mutation is associated with a mild type of CF.

Age Factors↗
PubMed1993

Ethnic differences in lung function in Israeli children.

BACKGROUND: The population of Israel consists of immigrants from many different countries. It is not known whether a single nomogram can be used for spirometric values of children of different ethnic descent. METHODS: Spirometry was performed in 753 second or third generation Israeli children (7-14 years) of different ethnic groups. Both parents of 503 of the children were of the same ethnic background. Subjects were allocated to six ethnic groups (European, Iraqi, North African, Indian, Yemenite, and Georgian). RESULTS: Standing height contributed most to the prediction of spirometric values (forced expiratory volume in one second, forced vital capacity), whereas sitting height did not contribute further. Statistical analysis showed significant ethnic differences. The Georgians had higher spirometric values for FEV1 than all the other ethnic groups, and higher FVC values than those of the Yemenite, North African, and Indian groups. FVC was lower among the Indian than all other groups. CONCLUSION: Differences in normal spirometric values were found among second or third generation Israeli children of different ethnic origins. European, North African, Iraqi, and Yemenite children could be characterised by single equation, whereas children of Georgian and Indian descent needed different predicting equations.

Adolescent↗
PubMed1993

A functional and psychosocial assessment of patients with post-Sudeck atrophy amputation.

Twelve patients with reflex sympathetic dystrophy were referred to a comprehensive orthopaedic rehabilitation center after failure of conservative management. Ten underwent amputation of the affected limb and, although functional improvement occurred in the patients undergoing lower limb amputation, psychosocial dysfunction persisted. All the patients required psychological support. In cases of post-Sudeck amputation, early orthopaedic diagnosis and referral to a comprehensive treatment center are recommended. In the 12 cases described here, apart from the obvious limb pathology, severe psychological inadequacies were found to be present.

Activities of Daily Living↗