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Biomedical subjects

E Kerem

Publications and source records attributed to E Kerem.

96 records · Page 6Linked to original sources

Clomiphene citrate does not modify the exaggerated thyrotrophin response to thyrotrophin-releasing hormone occurring in primary testicular failure.

Patients with primary testicular failure have increased basal TSH levels and an exaggerated TSH response to TRH in the presence of normal circulating levels of thyroid hormones. In order to evaluate it this TSH profile is an oestrogen-related phenomenon, sixteen patients with primary testicular failure were challenged with 200 micrograms TRH prior to and after the administration of clomiphene citrate. The latter was given in a dose of 100 mg/day for 4 weeks to ten patients; 200 mg/day for 4 weeks to three patients and 100 mg/day for 2 months to the final three patients. The patients demonstrated increased mean basal TSH levels with an exaggerated TSH response to TRH. Following the administration of clomiphene citrate, there were no changes in T4, T3 sephadex or total T3 levels and in basal or stimulated TSH levels. Clomiphene did produce an increase in oestradiol, testosterone, basal gonadotrophins and LH response to LHRH. Since the oestrogen antagonist, clomiphene citrate, had no effect on TSH secretion, it is unlikely that the exaggerated TSH response to TRH is mediated by oestrogens.

Adult↗

Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population.

The recently acquired ability to identify 97% of CF carriers in an Israeli Ashkenazi population, prompts an evaluation of a nationwide screening programme. In 1993, the programme would first screen and counsel 9,261 parents, then 396 spouses of carrier parents and finally screen 16.5 fetuses where both parents are carriers. Assuming 92% of screened parents choose abortion of fetus screened positive, 2.33 cases of CF will be prevented in 1993 at a direct cost of $781,000. The $326,000 direct costs of preventing a CF case, exceed the lifetime excess direct costs per case of $297,000. However, benefits of screening also accrue to subsequent pregnancies, resulting in a direct benefit ($14.45 million) to cost ($10.39 million) ratio of 1.39/1 for the period 1993-2032. When benefits and costs resulting from mortality changes, work absences and transport costs are included, the benefit ($15.95 million) to cost ($13.88 million) ratio falls to 1.15/1. Benefit-cost ratios are lower for other ethnic groups in Israel, due to lower carrier rates and lower mutation detection abilities. A CF screening programme will increase the freedom of individuals choice, but should be carried out carefully in order to minimize stigmatization and even discrimination against CF carriers.

Abortion, Eugenic↗

Kingella kingae endocarditis in a child with hair-cartilage hypoplasia.

Abstract. Kingella kingae is a fastidious Gram-negative rod that since the 1980s has been appreciated as a cause of a variety of human infections, including bone and joint infections, bacteremia, and rarely endocarditis [2, 6, 7, 9]. K. kingae endocarditis is rare, and only a few cases occur in normal, native valves. We report a case of K. kingae endocarditis in a patient with hair-cartilage hypoplasia who had previously undergone bone marrow transplantation. The combination of these rare conditions is discussed.

Adolescent↗

Screening of CFTR mutations in an isolated population: identification of carriers and patients.

One important application of the identification of disease-causing mutations is carrier screening in the general population. Such a project requires a simple accurate test by which a large proportion of the mutations can be identified. This study describes screening for CFTR mutations in an isolated Israeli Arab village. Two mutations, G85E and delta F508, accounted for all the CF alleles of these patients. The screening program tested for these two mutations, as well as the 5T allele, which has recently been shown to down-regulate the CFTR expression and cause variable phenotype. The screened population comprised 497 students from one school, which all the children of the village attend. The results revealed high carrier frequency, 8.5%, for the two CFTR mutations, G85E and delta F508, and a carrier frequency of 12% for the 5T allele. Two compound heterozygotes for the CFTR mutations, delta F508/G85E and G85E/5T, were identified. Both of these students had not been diagnosed previously as having CF since their disease presentation was not typical of CF. The CF incidence in this village was found to be extremely high, 1:72 life births. The screening results were reported to the physicians of the village to be used, upon request, for genetic counselling. This study emphasizes the importance of such programs for the identification of non-classical patients and for carrier detection.

Arabs↗

Prenatal ritodrine administration and the incidence of respiratory distress syndrome in premature infants.

UNLABELLED: Prenatal exposure to ritodrine may be associated with a lower incidence of RDS in premature infants, independent of its effect on prolongation of pregnancy. OBJECTIVE: The purpose of this study was to assess the neonatal respiratory outcome of premature infants according to whether their mothers were treated prenatally with ritodrine. STUDY DESIGN: A retrospective review was done of all 247 infants born at 34 weeks of gestation or less in our hospital during a 6-year period. A multivariate logistic regression was used to adjust for possible confounding variables. RESULTS: Among the ritodrine-exposed infants respiratory distress syndrome developed in 9.5% (4/42) compared with 28% (57/205) in the unexposed group (p < 0.012; adjusted odds ratio 4.88, 95% confidence interval 1.27 to 18.70). The gestational age and birth weight were similar in the two groups. The incidence of transient tachypnea of the newborn and other neonatal complications was not statistically different between the two groups. CONCLUSION: Ritodrine was associated with a significantly lower incidence of respiratory distress syndrome in premature infants, independent of the effect of ritodrine on prolongation of pregnancy.

Female↗