Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF.

HLA class II alleles susceptibility markers of type 1 diabetes fail to specify phenotypes of ketosis-prone diabetes in adult Tunisian patients.

We aimed to characterize the different subgroups of ketosis-prone diabetes (KPD) in a sample of Tunisian patients using the Aß scheme based on the presence or absence of ß-cell autoantibodies (A+ or A-) and ß-cell functional reserve (ß+ or ß-) and we investigated whether HLA class II alleles could contribute to distinct KPD phenotypes. We enrolled 43 adult patients with a first episode of ketosis. For all patients we evaluated clinical parameters, ß-cell autoimmunity, ß-cell function and HLA class II alleles. Frequency distribution of the 4 subgroups was 23.3% A+ß-, 23.3% A-ß-, 11.6% A+ß+ and 41.9% A-ß+. Patients from the group A+ß- were significantly younger than those from the group A-ß- (P = .002). HLA susceptibility markers were significantly more frequent in patients with autoantibodies (P = .003). These patients also had resistance alleles but they were more frequent in A+ß+ than A+ß- patients (P = .04). Insulin requirement was not associated to the presence or the absence of HLA susceptibility markers. HLA class II alleles associated with susceptibility to autoimmune diabetes have not allowed us to further define Tunisian KPD groups. However, high prevalence of HLA resistance alleles in our patients may reflect a particular genetic background of Tunisian KPD population.

[Ambulatory blood pressure measurement and control in hypertensive diabetic patients]. / Appréciation du profil tensionnel par mesure ambulatoire de la pression artérielle chez les diabétiques hypertendus traités.

BACKGROUND: Good blood pressure control is one of the recommended targets in diabetic patient's management. AIM: To evaluate blood pressure (BP) control in hypertensive treated diabetic patients using ambulatory blood pressure measurement (ABPM). METHODS: Two hundred and six hypertensive treated diabetic patients were enrolled in this study (83 men and 123 women). Mean age were 60.3±9.6 years-old with mean diabetic duration of 9.1±8.2 years. All of them underwent 24 hours ABPM. Intervals between measurements were 20 minutes at diurnal period and 30 minutes at nocturnal period. RESULTS: 28 patients (13.6%) only were at recommended target levels of blood pressure control (mean diurnal BP<130/80 mmHg and nocturnal BP<115/65 mmHg) and 137 patients were at the most bed control levels (mean diurnal BP ? 140/90 mmHg or nocturnal BP ? 125/75 mmHg). Bed controlled patients had mildly higher waist circumference (p=0.08). Poor BP control was associated with non dipper character (p<0.001), diabetic nephropathy (p<0.01) and diabetic retinopathy (p<0.01). CONCLUSION: Our hypertensive treated diabetic patients were far from good blood pressure control. ABPM showed that the loss of nocturnal blood pressure fall was the most associated abnormality with poor BP control. Diabetic microangiopathy were more frequent in poor controlled patients.