NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.     

Occupational exposure to textile dust and lung cancer risk: Results from the ICARE Study

Background

To investigate the association of lung cancer with occupational exposure to textile dust and specifically to cotton dust in the population‐based case‐control study ICARE.

Methods

Lifelong occupational history of 2926 cases and 3555 controls was collected using standardized questionnaires, with specific questions for textile dust exposure. Odds ratios (ORs) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models controlling for confounding factors including smoking and asbestos exposure.

Results

An inverse association between textile dust exposure and lung cancer was found among workers exposed ≥5% of their work time (OR = 0.80, 95%CI = 0.58‐1.09), more pronounced for distant exposures (40+ years; up to a 56% reduced risk, statistically significant). The OR of lung cancer was significantly decreased among workers exposed to cotton fibers (OR = 0.70, 95%CI = 0.48‐0.97).

Conclusions

Our results provide some evidence of a decreased risk of lung cancer associated with exposure to textile dust, particularly cotton.

     

Diabetes following kidney transplantation. Report of 35 cases

Post-transplant diabetes mellitus (PTDM) is a frequent complication of renal transplantation. It has a prevalence rate ranging from 3 to 46%. We undertook a retrospective study of 175 nondiabetic renal transplant recipients to determine the prevalence rate, clinical characteristics, and risk factors of PTDM in kidney transplant recipients in our region. Thirty five patients (20%) developed PTDM, 50% were diagnosed by 3 months post transplantation. Eight patients (22.8%) were insulin recurrent. PTDM was independent of kidney source, family history of diabetes, age, sex, incidence of acute rejection, body weight gain, steroid or cyclosporine dose, use of beta-blockers and cytomegalovirus infection. Acturial 5 years survival was 79.4% in the diabetic compared to 80.5% in the control group. Patient survival was similar in the two groups. We conclude that PTDM is frequent in our patients. No significant risk factors of PTDM were identified in this study.     

Potter's reno-facial syndrome

Potter's reno-facial syndrome is a rare innate abnormality. We bring 4 observations repertoried at the maternity of military hospital of Tunis over a period of 6 years (1997 - 2002). The purpose of our work is to determine after a review of the literature the echographic and foetopathologic characteristics, and the forecast of this syndrome. The frequency of the bilateral renale agenesis is of 0.27 per thousand. Positive diagnosis bases essentially on the ultrasound of the 2th, or the 3-th trimester. The signs of appeal are essentially the oligoamnios associated to an hypotrophy. The caryotype is systematic to eliminate an associeted chromosomic abnormality. Foetopathologic exam is usefull for the diagnosis. Main abnormality except the urinary pathology is the lung hypoplasia. Therapeutic interruption of the pregnancy in this situation not compatible with the extra-uterine life., only type IV authorize the development of the pregnancy according to echographic data and of foetal urinaire biochemistry. We insist on the early practice of the morphological ultrasound between 20 - 22 weeks for the diagnosis of foetal abnormalities and the place of the genetic advice in association with the geneticist in the coverage of the couple.     

Intra-abdominal desmoplastic small round cell tumor in childhood: case report and review of the literature

Desmoplastic small round cell tumor (DSRCT) correspond to a recent clinicopathological entity, individualized in 1989 into the group of tumors with small round cells. This pathology puts ethiopathogenic, diagnostic, therapeutic and prognosis problems. Indeed, the ethiopathogenic is still unknown, diagnosis is asserted only by immuno-histochimic and cytogenetic study because of the big number of differential diagnoses and the anatomopathologic polymorphism. Its treatment is not well codified and its outcome remains dark in spite of therapeutic progress. The objective of this work is to report a personal observation of a DSRCT and to proceed to a review of the literature to clarify the epidemiological, clinical, paraclinical and therapeutic aspects of this rare tumor.