Traumatic rupture of the aortic isthmus is a rare lesion occurring in patients subjected to violent deceleration. Because of the forces involved, it is frequently associated with concomitant life-threatening injuries. The endovascular intervention has been described to be a feasible and efficient technique which may be proposed as a therapeutic option for patients with multiple traumas instead of delayed classical surgical repair after stabilization.
View Article and Find Full Text PDFRecurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of Mus musculus from the C57BL6/J strain of mice harbouring an approximate 5 Mb DNA fragment from chromosome 13 from Mus spretus mice (66H-MMU13 strain), with a high rate of embryonic resorption (ER).
View Article and Find Full Text PDFPremature 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.
View Article and Find Full Text PDFObjective: To evaluate the prevalence of FMR1 premutations and X chromosome cytogenetic abnormalities in a large cohort of Tunisian women with premature ovarian failure (POF).
Patients And Methods: The cohort consisted of 127 Tunisian women with POF referred by endocrinologists and gynecologists for genetic investigation in the context of idiopathic POF and altered hormonal profiles. Clinical information concerning the reproductive function in the family, previous hormonal measurements and/or possible fertility treatment were collected.
The importance of the extrinsic haemostatic system, of which factor VII/VIIa (FVII/FVIIa) is a key constituent, in acute coronary syndrome (ACS) is well recognized. The contribution of FVII gene variants R353Q and -323P0/10, and altered FVII plasma levels to the risk of ACS was investigated in a North African Tunisian Arab cohort consisting of 308 ACS cases and 312 age-, gender- and ethnically-matched control subjects; FVII antigen levels were determined by ELISA. Regression analysis was used in assessing the association of FVII variants and changes in FVII levels to the overall risk of ACS.
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