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Biomedical subjects

L Bentur

Publications and source records attributed to L Bentur.

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

Severe minocycline-induced eosinophilic pneumonia: extrapulmonary manifestations and the use of in vitro immunoassays.

OBJECTIVE: To report a severe and unusual reaction to minocycline and the use of in vitro immunologic assays. CASE SUMMARY: A 46-year-old white man developed severe respiratory distress with pulmonary infiltrates on chest X-ray and eosinophilia in blood, bronchoalveolar lavage fluid, and biopsied lung tissue during exposure to minocycline. Additional manifestations included pleuropericardial effusion, liver function abnormality, and bone marrow eosinophilia. Macrophage inhibition factor and mast cell degranulation assays were positive to minocycline. DISCUSSION: The patient's manifestations were compatible with the diagnosis of eosinophilic pneumonia. After excluding other possible etiologies, minocycline was identified as the offending agent. Generalized damage was suggested by the presence of a combination of extrapulmonary manifestations previously not reported. Results of the in vitro immunologic assays supported the hypersensitivity nature of the disease and confirmed the diagnosis. CONCLUSIONS: Minocycline-induced eosinophilic pneumonia may involve extrapulmonary sites. It is suggested that in vitro immunoassays be used for confirmation of the diagnosis rather than rechallenge or invasive procedures.

Anti-Bacterial Agents↗
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

[An epidemic of respiratory syncytial virus bronchiolitis among infants in northern Israel].

In the wake of a community outbreak of bronchiolitis in northern Israel from December 1993 to March 1994, we conducted a retrospective study of 108 infants aged 2 weeks to 14 months with proven respiratory syncytial virus (RSV) infection (diagnosed by a rapid RSV antigen test in nasopharyngeal secretions). 47% of the infants were less than 8 weeks old. Mean hospital stay was 6.6 days (range 1-60). The characteristic clinical findings were: cough in all patients, dyspnea in 96%, rhinitis in 95% and fever in 55%. In those younger than 8 weeks, or in those with underlying diseases, hospitalization was longer, the disease was more serious and complications more frequent (p < 0.002). 4 children (3%) died, 3 of whom had severe congenital heart defects. All children were treated with oxygen and beta-agonist inhalations. The 33% who also received corticosteroids were older and most had a history of pulmonary diseases, such as asthma or bronchopulmonary dysplasia. There was no difference between those who did or did not receive corticosteroids with regard to severity of disease or rate of complications. Ribavirin was used to treat 19 (17.5%), most of whom had underlying lung disease. The others were otherwise healthy infants younger than 8 weeks. 13 were cared for in the intensive care unit, 11 of whom required mechanical ventilation. A rapid test for detection of RSV infection enabled prompt isolation of infected patients so that the risk of nosocomial infection was reduced and Ribavirin therapy could be started early, if required.

Adrenal Cortex Hormones↗
PubMed1996

Dietary intakes of young children with cystic fibrosis: is there a difference?

Caloric intakes of preadolescent and adolescent girls and boys with cystic fibrosis (CF) were compared in order to evaluate the possibility that poor caloric intake contributes to poor nutritional status and high mortality among girls with CF. Fifty-six CF patients (26 girls and 30 boys), 10-15 years old, completed a 3-day food record, answered a short questionnaire, and underwent anthropometric and pulmonary function assessment. The mean ages of the girls and boys were similar, but the height and weight percentiles of the girls were lower than those of the boys (p = 0.02). Mean caloric intakes were no different (116% and 112% of the recommended nutrient intake in the girls and boys, respectively). Nutritional status, as determined by weight as a percentage of ideal weight for height, mean triceps skinfold thickness, and midarm muscle circumference, was normal and similar in both sexes. Most girls and boys with CF in this study had an appropriate perception of their body weight. Pulmonary function tests suggested mild lung disease with no significant difference between girls and boys (forced expiratory volume in 1 s of 82.2% and 79.8% of predicted values, respectively). The similar nutritional and pulmonary status of the girls and boys with CF in this age group is in contrast to previous reports. This finding may be the result of our policy, introduced > 15 years ago, of expecting normal growth, by paying close attention to enzyme therapy and encouraging high energy intake from the time of diagnosis. It remains to be seen whether boys and girls continue to maintain similar nutritional and pulmonary status at a later age and whether both sexes experience a similar mortality rate as they age.

Adolescent↗
PubMed1996

Pulmonary lymphangioleiomyomatosis: prolonged survival despite multiple pregnancies and no hormonal intervention.

Pulmonary lymphangioleiomyomatosis (PLAM) is rare progressive, fatal interstitial lung disease, considered to be sex hormones related. We report a follow-up, after 19 years, in a patient with PLAM without intervention. Despite excessive oestrogen production during four pregnancies there was only mild deterioration of her respiratory disease. Patients with good functional reserve should be followed-up closely before deciding on hormonal ablative treatment.

Disease-Free Survival↗
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↗
PubMed1994

[Pulmonary alveolar proteinosis].

Pulmonary alveolar proteinosis is a rare disease of unknown etiology characterized by alveoli filled with PAS-positive material high in protein and lipid. A 30-year-old man was referred because of respiratory failure. 2 years previously exertional dyspnea and productive cough appeared and gradually worsened. A year later he sought medical advice but defaulted on follow-up. After further deterioration he returned for treatment. On examination he had tachypnea and cyanosis. Diffuse crackles were audible in both lungs. X-ray revealed diffuse bilateral airspace consolidation. Arterial blood gases on air showed PaO2 41 mm Hg, PaCO2 35 mm Hg, and pH 7.46. There was a restrictive pattern on pulmonary function testing. Fiberoptic bronchoscopy with broncho-alveolar lavage and transbronchial biopsy established the diagnosis of pulmonary alveolar proteinosis. Whole lung lavage lead to gradual improvement over the next few weeks. However, chest X-ray, arterial blood gases and pulmonary function tests failed to revert completely to normal. Such severe manifestations and such an aggressive course as in this case might have been prevented had the diagnosis been made and treatment instituted earlier in the course of the disease.

Adult↗
PubMed1994

Menstrual asthma: use of a gonadotropin-releasing hormone analogue for the treatment of cyclic aggravation of bronchial asthma.

A new clinical indication for GnRH-a treatment seems to exist in addition to the many indications known so far. The successful treatment of cyclic severe attacks of bronchial asthma during ovulation and the menstrual periods with a GnRH-a is described. A 45-year-old woman with long-standing bronchial asthma was hospitalized because of severe bronchial asthma and status asthmaticus 11 times during the 5 months before her referral. The hospitalizations were either during the ovulatory or menstrual period, and in two of them they were so grave to require artificial ventilation through an endotracheal tube. To induce pituitary-ovarian desensitization and amenorrhea, the patient was put on monthly injections of depot GnRH-a, which she has been receiving for the last 20 months. Subjective improvement was accompanied by a significant improvement in spirometric indices, by lack of hospitalizations, and decrease in glucocorticoid daily dosage. Although a trial of sequential add-back HRT was unsupportable because of respiratory aggravation, low-dose continuous HRT was tolerated by the patient. In light of the dramatic subjective and objective improvement in association with the GnRH-a treatment, we conclude that this new application deserves further experience.

Asthma↗
PubMed1993

Efficacy of albuterol administered by nebulizer versus spacer device in children with acute asthma.

The aim of this study was to compare the response to inhaled albuterol after administration by nebulizer with the response after administration by a metered-dose inhaler and spacer device (MDI-spacer) to children with acute asthma. In a double-blind fashion, 33 children (6 to 14 years of age) with forced expiratory volume in 1 second (FEV1) between 20% and 70% of predicted values, and who were seen in the emergency department with acute asthma, were studied. They were treated with aerosolized albuterol or placebo by MDI-spacer, followed immediately by albuterol or placebo administered by nebulizer with oxygen. The dose ratio for albuterol by MDI-spacer versus nebulizer was 1:5. Outcome measures included a clinical score, respiratory rate, arterial oxygen saturation, and FEV1, measured before and 10, 20, and 40 minutes after treatment. With the exception of heart rate (which increased in the nebulizer group and decreased in the MDI-spacer group (p < 0.05), no difference in the rate of improvement of clinical score, respiratory rate, arterial oxygen saturation, or FEV1 was noted during the 40-minute study period between children who received albuterol by nebulizer and those who received it by MDI-spacer. We conclude that spacers and nebulizers are equally effective means of delivering beta 2-agonists to children with acute asthma.

Acute Disease↗
PubMed1993

Immunoreactive calmodulin in cystic fibrosis kidneys.

BACKGROUND: Microscopic nephrocalcinosis has been detected at autopsy in 35 of 38 (92%) cystic fibrosis (CF) patients. A primary defect of calcium metabolism in the kidney has been postulated. Intracellular calcium and calmodulin (a calcium binding protein) have been shown to be increased in CF tissues. AIMS: To determine whether CF kidneys obtained at autopsy contain normal amounts of calmodulin and whether the presence of immunoreactive calmodulin correlates with nephrocalcinosis. METHODS: An immunoperoxidase method was used to stain kidneys obtained from six CF individuals aged three to 27.5 years (mean 15.75 +/- 10.2 years) and five individuals who died of chronic debilitating disease aged eight to 17 years (mean 13.6 +/- 3.9 years). Calcium staining was undertaken using the von Kossa (silver precipitation) and Alizarin red methods. RESULTS: No quantifiable difference in immunoreactive calmodulin staining was demonstrated in autopsy renal specimens between six CF patients and five chronically diseased controls. Three of six CF patients aged 22.8 +/- four years and two of five chronically diseased controls aged eight to 16 years respectively had detectable immunoreactive calmodulin staining. Within the CF group the presence of microscopic nephrocalcinosis did not correlate with immunoreactive calmodulin staining. CONCLUSION: This study does not support the premise that a calmodulin-dependent defect of intracellular calcium handling contributes to the microscopic nephrocalcinosis seen in CF.

Adolescent↗
PubMed1993

Bronchiolitis obliterans organizing pneumonia. Diagnosis by transbronchial biopsy.

Transbronchial biopsy (TBB) has been considered to be inadequate for the diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP). We describe herein two patients with interstitial pulmonary disease in whom the diagnosis of BOOP was achieved by TBB. The two patients presented with progressive dyspnea, cough, tachypnea, and fine end-inspiratory crackles. The radiologic findings disclosed patchy alveolar infiltrates. Pulmonary function tests showed a restrictive pattern and decreased diffusing capacity. The pathologic findings disclosed bronchioles, alveolar ducts, and alveoli infiltrated with mononuclear cells. The lumina were obliterated with fibroblasts and loose granulation tissue. Corticosteroid treatment resulted in significant improvement. Transbronchial biopsy should be considered as a useful diagnostic tool for BOOP.

Adolescent↗
PubMed1992

Obstructive airway disease associated with occupational sodium hydroxide inhalation.

Sodium hydroxide (NaOH) is well known for its corrosive properties and its ability to generate heat on contact with water. The respiratory effects of industrial exposure to NaOH have, however, never been reported. A 63 year old man worked daily for 20 years cleaning large industrial jam containers by boiling lye (NaOH) solution without using respiratory protective equipment. Physical examination, chest x ray film, pulmonary function tests, and arterial blood gases were all compatible with severe obstructive airway disease with significant air trapping. It is probable that this massive and prolonged occupational exposure to the corrosive effect of NaOH mists induced irritation and burns to the respiratory system, eventually leading to severe obstructive airway disease.

Humans↗
PubMed1992

Wheezing in infants with cystic fibrosis: clinical course, pulmonary function, and survival analysis.

Wheezing is a common finding in infants with cystic fibrosis (CF). This study was undertaken to determine the prevalence of wheezing in infants with CF and to compare the clinical outcome of those who wheezed in infancy with that of those who did not. The study cohort included 229 CF patients born between 1965 and 1979 with CF diagnosed before 2 years of age. Fifty-seven (25%) had physician-documented wheezing during the first 2 years of life. Wheezing had resolved by the age of 2 years in 50% of the patients and by the age of 4 years in 75%. Although wheezing seemed to be linked to a family history of allergy and asthma, the frequency of the delta F508 mutation was similar to that of the non-wheezers. There was no significant difference in survival at the age of 13 years between the two groups. At the age of 7 years, patients who had wheezed had significantly lower forced expiratory flow rate at mid-expiratory phase (85 +/- 34% predicted) compared with those with no wheezing history (101 +/- 34% predicted). At the age of 13 years, forced expiratory volume in 1 second values was lower in the wheezing group (69 +/- 24% predicted vs 78 +/- 21% predicted), as was forced expiratory flow rate at mid-expiratory phase (56 +/- 33% predicted vs 69 +/- 30% predicted). In conclusion, although wheezing in infants with CF seems to have diminished with age, pulmonary function abnormalities were more evident at 7 and 13 years of age in the group that wheezed than in the group that did not.

Cohort Studies↗
PubMed1992

Efficacy of adding nebulized ipratropium bromide to nebulized albuterol therapy in acute bronchiolitis.

Nebulized ipratropium bromide is though to be synergistic with albuterol in therapy for acute childhood asthma. Because the efficacy of ipratropium in bronchiolitis is uncertain and some infants with bronchiolitis do not respond to nebulized albuterol alone, the following study was undertaken. In this double-blind, placebo-controlled trial, 69 infants between 6 weeks and 24 months of age who exhibited the first episode of acute bronchiolitis were randomly assigned to receive either nebulized albuterol (0.15 mg/kg per dose) and ipratropium bromide (250 micrograms per dose) (group A, n = 36) or nebulized albuterol and normal saline (placebo) (group B, n = 33) for two doses, 1 hour apart. The two groups were comparable at baseline. Both therapies resulted in clinically significant improvement. However, the addition of ipratropium resulted in no additional benefit with respect to decrease in the respiratory rate (mean decreases 10.6/min vs decreases 8.6/min, P = .86), accessory muscle score (range 0 through 3) (decreases 0.92 vs decreases 0.82, z = -0.44), wheeze score (range 0 through 3) (decreases 0.94 vs 0.85, z = -0.20), oxygen saturation (increases 0.25% vs increases -0.33%, P = .86), or hospitalization rate (17 vs 10). The number of "nonresponders" and "clear responders" was also very similar in both groups. No toxicity was noted. The increase in heart rate was mild and similar in both groups (increases 6.7 vs increases 11.1). The power of the study to detect a difference between the two treatment groups in the respiratory rate change > or = 8/min is greater than 90%.(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗
PubMed1992

Controlled trial of nebulized albuterol in children younger than 2 years of age with acute asthma.

To determine the response to nebulized beta 2 agonist, 28 children younger than 2 years of age who visited the emergency department during an episode of acute asthma were studied. Each subject had a previous history of recurrent wheezing episodes. They were randomly assigned to receive two administrations of either nebulized albuterol (0.15 mg/kg per dose) or placebo (normal saline) with oxygen, 1 hour apart. After two nebulizations, the albuterol-treated patients had a greater improvement in clinical status (respiratory rate, degree of wheezing and accessory muscle use, total clinical score, and arterial oxygen saturation) than the placebo group. None of the patients in the albuterol group experienced a decrease of arterial oxygen saturation of greater than or equal to 2%. It is concluded that a trial of nebulized beta 2 agonists is warranted in the treatment of acute asthma in infants and young children.

Acute Disease↗
PubMed1991

Fatal pulmonary arterial occlusive vascular disease following chemotherapy in a 9-month-old infant.

Fatal pulmonary hypertension developed in an infant during the 7-month period in which he received, via a central venous catheter, combination chemotherapy for stage IV neuroblastoma as well as intermittent parenteral feeding. In a lung biopsy and at autopsy, small pulmonary arteries showed diffuse medial hypertrophy and peripheral muscularization, very extensive concentric intimal fibrosis, and focal eccentric fibrosis evolving from organizing thrombi. Pulmonary veins were normal. Hypothetically, chemotherapeutic drug therapy (possibly potentiated either by the parenteral nutrition or simply by the vehicular fluids causing volume loading of the pulmonary circulation) could cause occlusive pulmonary arterial disease by several mechanisms, but the association has not been described previously, although use of such drugs has been reported with pulmonary veno-occlusive disease.

Antineoplastic Combined Chemotherapy Protocols↗