Endovascular treatment of acute aortic isthmian ruptures: case study.

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.

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans.

Recurrent 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).

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.

Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure.

Objective: 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.

Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acute coronary syndrome among Arab-African Tunisians.

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.

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.

Objective: To determine whether NR5A1 (SF-1) variants are a cause of primary ovarian insufficiency (POI) in 26 young women with similar genetic background.

Design: Genetic and functional mutation study.

Setting: University hospitals.

Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.

Background: WNT4 and SF1 genes play an important role in ovarian development. They constitute coherent candidate genes associated with premature ovarian failure (POF) pathogenesis.

Methods: We sequenced the coding region of WNT4 and SF1 in 55 Tunisian women with POF and 100 healthy controls.

Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery disease in Tunisians.

We examined the contribution of two factor VII (FVII) bi-allelic (R353Q, -323P0/10) and one tandem repeat (HVR4) polymorphisms to the risk of coronary artery disease (CAD) in Tunisians. Study subjects comprised 308 CAD patients and 312 age-, gender- and ethnically-matched controls. Regression analysis was used in assessing the FVII association to CAD risk.

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2(-/-) female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF).

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified.

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype.

[Place of pelvic ultrasonography using transabdominal technique in the investigation of premature ovarian failure].

Objectives: The aim of the present study was to characterize women with premature ovarian failure (POF) by their ovarian ultrasonographic appearances using transabdominal technique to establish the relationship to clinical, hormonal status, and genetic analysis.

Patients And Methods: We studied a cohort of 80 patients suffering from POF. The surface of the ovary was calculated and we identified the detection or not of follicles.

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.

To evaluate the implication of chromosome abnormalities in the etiology of premature ovarian failure (POF), 1000 patients with POF recruited at the Department of Cytogenetics of Farhat Hached Hospital (Sousse, Tunisia) between January 1996 and December 2008. Chromosome analyses were performed by using karyotyping and interphase fluorescent in situ hybridisation (FISH) using a centromeric probe of the chromosome X to look for low-level mosaicism of X-chromosome monosomy. Hundred and eight chromosomal abnormalities (10.

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Background: FOXL2 encodes a forkhead transcription factor whose mutations are responsible for the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF).

Results: We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES.

[Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes].

Premature ovarian failure is a common pathology affecting 1% of women. Although multiple etiologies have been described the majority of cases are idiopathic. Forkhead transcription factors as FOXL2 and FOXO3A are of particular interest in the research of genetic factors related with the pathology as they are present in diverse developmental pathways and ovarian physiology.