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Biomedical subjects

D Branski

Publications and source records attributed to D Branski.

At least 37 records · Page 2Linked to original sources
PubMed1997

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.

Some patients express various features of cystic fibrosis (CF) even though essential characteristics of the disease might be absent. Such patients may suffer from respiratory disease without pancreatic insufficiency and normal sweat chloride levels. Others may present as male infertility because of congenital bilateral aplasia of the vas deferens (CBAVD) with no other signs of CF. The 5T allele, a DNA variant in a noncoding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene that reduces the level of the normal CFTR transcripts, was found in increased frequency among male patients with CBAVD. The purpose of this study was to investigate the possibility that the 5T allele is associated with dysfunction of organs other than the male reproductive system, leading to CF or atypical CF. Analysis of the 5T allele was performed on 148 subjects (29 with CF, 61 with atypical CF, and 58 with CBAVD) carrying 232 chromosomes with unidentified CFTR mutations, and on 142 non-CF chromosomes from healthy subjects of Ashkenazi origin. The frequency of the 5T allele among chromosomes from patients of Jewish Ashkenazi origin with CF and atypical CF (six of 33; 18%) was significantly higher than the frequency in the normal Ashkenazi population (eight of 142; 6%; p = 0.03). Analysis of the clinical presentation of the five patients with CF and the 12 patients with atypical CF carrying the 5T allele indicated that most patients suffered from respiratory disease presenting as asthma like symptoms, nasal polyposis, chronic sinusitis, chronic bronchitis, or bronchiectasis. Six patients had pancreatic insufficiency, two with meconium ileus. Sweat Cl- levels ranged from normal to elevated. Of the six male patients with respiratory disease who were old enough to be evaluated for fertility status, five were fertile and one had pancreatic insufficiency. Among male patients with CBAVD, 41% suffered from respiratory symptoms. Thus, the 5T allele is a variant with partial penetrance causing disease with an extreme variability of clinical presentation: from normal healthy fertile subjects or male patients with CBAVD to those with atypical or typical clinical phenotype of CF.

Adolescent↗
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

Focal bacterial nephritis (lobar nephronia) in children.

We report 13 patients with 16 episodes of acute lobar nephronia diagnosed in a prospective study that was conducted among 210 hospitalized children with urinary tract infection. In 30 episodes of urinary tract infection, a hypoechogenic or hyperechogenic lesion was found. Twenty patients underwent computed tomography, and in 16 of them acute lobar nephronia was diagnosed. Evolution to renal abscess occurred in 25%. Prolonged intravenous antibiotic treatment was sufficient in all cases.

Abscess↗
PubMed1996

Pancreatic diseases in children.

The main congenital anomalies of the exocrine pancreas are reviewed, and several generalized and isolated hereditary pancreatic diseases are discussed. In contrast with adults, the most frequent causes of acute pancreatitis are viral infection, drug induction, and trauma. The dissimilarities between pediatric and acute and chronic pancreatitis are emphasized.

Acute Disease↗
PubMed1996

Chronic diarrhea and malabsorption.

Diarrhea is one of the major causes of infant morbidity and mortality worldwide. Major advances in understanding the pathophysiology of chronic diarrhea and malabsorption have taken place during the past three decades. Analysis of absorptive and secretory functions of the intestine has provided some insight into the possible causes of diarrhea. This article summarizes some of the specific causes of malabsorptive diarrhea in infancy and childhood, with emphasis on pathophysiology and approaches to therapy.

Child, Preschool↗
PubMed1996

Adrenal suppression among asthmatic children receiving chronic therapy with inhaled corticosteroid with and without spacer device.

BACKGROUND: Inhaled corticosteroids have become a first-line treatment for chronic asthma. It has been shown that inhaled corticosteroids can have a measurable effect on the hypothalamic-pituitary-adrenal axis in asthmatic children. OBJECTIVE: To investigate the prevalence of adrenal suppression among asthmatic children receiving chronic therapy with low to moderate doses (up to 1000 micrograms) of inhaled beclomethasone dipropionate via a metered dose inhaler (MDI) and via MDI attached to a spacer device (MDI-spacer). METHODS: The study included 39 asthmatic children currently undergoing therapy; 24 received beclomethasone dipropionate by MDI attached to a spacer, and 15 directly by MDI. All the patients had been treated for at least 4 months. Another 21 children were normal controls. The 24-hour urinary free cortisol excretion was measured to evaluate hypothalamic-pituitary-adrenal axis function. RESULTS: Seven of 15 (47%) patients from the MDI group had reduced 24 hour-urinary free cortisol excretion and 2 of 24 (8%) in the MDI-spacer group (P = .006). The mean 24-hour urinary free cortisol excretion of the MDI group was 0.0185 +/- 0.0089 microgram/gram creatinine, and the MDI-spacer and the control groups were, 0.0290 +/- 0.0138 microgram/gram creatinine and 0.0270 +/- 0.0118 microgram/gram creatinine, respectively, (P = 0.37, f = 3.51 ANOVA). CONCLUSION: Chronic inhalation of low to moderate doses of corticosteroids is associated with adrenal suppression in some asthmatic children. This side effect is more common among patients inhaling directly from the MDI and is less frequent when a large volume spacer is attached to the MDI.

Administration, Inhalation↗
PubMed1996

Pulmonary function abnormalities in type I Gaucher disease.

The purpose of this study was to determine the prevalence of pulmonary function and radiographic abnormalities among patients with type I Gaucher's disease, and to analyse the relationship between the pulmonary involvement and genotype and clinical severity score. All patients attending the Gaucher clinic at the Shaare Zedek Medical Center, Jerusalem, Israel, during the years 1992-1993 were prospectively evaluated. Each patient had pulmonary function tests, chest radiography, clinical assessment in terms of degree of organ involvement, and genotype analysis. Of the 95 patients included in the study (mean +/- SD age 29 +/- 15 yrs), 68% had some pulmonary function abnormalities, most commonly a reduced FRC and transfer coefficient for carbon monoxide (Kco), found in 45% and in 42% of the patients respectively. Total lung capacity (TLC) was reduced in 22% of the patients and forced expiratory flows in approximately one third of the patients. Signs of airtrapping (elevated residual volume (RV) or RV/TLC) were seen in 18% of the patients. Males had a higher incidence of reduced expiratory flow than females, (forced expiratory volume in one second (FEV1) was reduced in 36% of males vs 5% of females). Chest radiographic abnormalities were found in 17% of the patients, although only 4% had severe changes. Patients with abnormal pulmonary function had a significantly higher severity score index than those with normal pulmonary function tests. There was no association between abnormal pulmonary function and genotype or age. In conclusion, abnormal pulmonary function is common among type I Gaucher patients. Pulmonary function tests show airways obstruction, with reduced expiratory flows, reduction in lung volumes and alveolar-capillary diffusion abnormality. The rate of progression and the clinical significance need to be determined.

Adolescent↗
PubMed1996

Cigarette smoking habits among schoolchildren.

STUDY OBJECTIVE: Cigarette smoking is a major preventable cause of morbidity and mortality worldwide. Most adult smokers start smoking regularly some time before 18 years of age. The aim of this study was to determine the age at which children begin cigarette smoking, to study the environmental factors that influence children to smoke, and to understand the reasons why children smoke. The results of this study may help lead to the development of more effective smoking prevention programs. METHODS: We carried out a cross-sectional survey of all students in grades 6 to 11 (ages: 11 to 17 years) in two high schools in the Jerusalem area, using an anonymous self-completion questionnaire. The students were asked questions regarding the age at which they began smoking, initiation, their smoking habits, their reasons for smoking, and their views on children who smoke. In addition, they were asked about the smoking status of their parents, siblings, and friends. Finally they were asked about the health hazards of smoking. RESULTS: Of the 847 students who answered the questionnaire, 35% stated that they had smoked at least once and 14% stated that they were currently smoking. The percentage of students who were currently smoking increased gradually with age to 36%. There was a sharp increase in experimental smoking after seventh grade (ages 12 to 13 years). Having a friend who smoked substantially increased the likelihood of smoking, whereas parental smoking or having a sibling who smoked did not increase the likelihood of smoking. The most common reason for starting to smoke was "to try something new" (55%). There was a significant difference between the views of students with different smoking statuses regarding children who smoke: nonsmoking children associated more negative characteristics to smoking. All of the children studied were well aware of the health hazards of cigarette smoking. CONCLUSIONS: Smoking is highly prevalent among schoolchildren in Jerusalem. The increase in the rate of smoking at the age of 12 years indicates that smoking prevention programs need to be started at an earlier age. Peer pressure is a very strong stimulus for smoking in children. Since children are aware of the health hazards of smoking, prevention policy should be aimed more at associating smoking with negative images and addressing peer pressure.

Adolescent↗
PubMed1996

Polymyositis, arthritis, and proteinuria in a patient with adult celiac disease.

A 37-year-old woman developed polymyositis and arthritis concomitantly with proteinuria and watery diarrhea. Repeated duodenal biopsies and serological evaluation established the diagnosis of adult celiac disease. Treatment with gluten-free diet resolved all clinical and laboratory abnormalities. We believe that this is the first report of adult celiac disease presenting as a multisystem disease involving kidneys, joint, and muscles.

Adult↗
PubMed1994

Pleural fluid characteristics in pulmonary brucellosis.

Although pulmonary symptoms accompany up to 16% of cases of infection with Brucella melitensis, pleural effusion has rarely been reported. A 12 year old girl had brucellosis with pulmonary disease and a pleural effusion. The pleural fluid was clear and straw coloured with 2700 leucocytes/mm3 (93% lymphocytes), a protein level of 48 g/1, and a glucose concentration of 4.1 mmol/l. Culture of the pleural fluid grew Br melitensis.

Brucella melitensis↗
PubMed1994

Bacteremic necrotizing pneumococcal pneumonia in children.

Necrotizing pneumonia, massive necrosis of lung tissue, is a serious, often fatal, complication of lobar pneumonia. Four children 1.3 to 7.5 yr of age were hospitalized with bacteremic pneumococcal pneumonia. All of them were acutely ill on presentation with arterial desaturation, and they developed anemia and thrombocytosis. Two patients had pleural effusion requiring drainage. A chest CT scan revealed segmental or lobar pulmonary liquification, which led to the diagnosis of necrotizing pneumonia. This finding could be demonstrated early in the course of the disease. Subsequently, all of the patients developed cavitating lesions. With adequate antipneumococcal therapy and/or chest tube drainage, all of the patients recovered completely; however, clinical improvement was prolonged: fever lasted 9 to 20 days, and length of hospitalization was 12 to 26 days. Contrary to that in adults, complete recovery is anticipated in children with bacteremic necrotizing pneumococcal pneumonia, and no invasive investigations are required.

Anti-Bacterial Agents↗
PubMed1994

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been reported in Ashkenazi Jewish families. The primary enzymatic defect is aspartoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD and 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutation. All 18 patients were homozygotes for the mutation, and 15 heterozygotes were found among the healthy individuals. The results disclose a carrier rate of 1:59 and suggest that a screening for the mutation is warranted among Ashkenazi Jewish couples.

Amidohydrolases↗
PubMed1993

Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset.

Hyperammonemia and encephalopathy developed in an 11-year-old girl with chronic interstitial lung disease and cholesterol casts in her lung biopsy specimen. She had decreased plasma levels of ornithine, lysine, and arginine and excessive urinary excretion of lysine and arginine, consistent with the diagnosis of lysinuric protein intolerance. Analysis of plasma and urinary amino acids should be considered in the diagnostic evaluation of patients with interstitial lung disease of uncertain origin.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.

Carnitine O-Palmitoyltransferase↗