ABSTRACT
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.
Subject(s)
Genetic Predisposition to Disease/genetics , Homeodomain Proteins/genetics , Mutation, Missense , Primary Ovarian Insufficiency/genetics , Transcription Factors/genetics , Adult , Alleles , DNA Mutational Analysis , Female , Gene Frequency , Genetic Testing/methods , Genetic Testing/statistics & numerical data , Genotype , Humans , Prevalence , Primary Ovarian Insufficiency/diagnosis , Primary Ovarian Insufficiency/epidemiology , Tunisia/epidemiologyABSTRACT
OBJECTIVE: To compare neonatal outcomes of preterm infants (born at <32 weeks' gestation) with focal/spontaneous intestinal perforation (SIP), necrotizing enterocolitis (NEC)-related perforation, NEC without perforation or no NEC/perforation. STUDY DESIGN: Retrospective cohort study of 17,426 infants admitted to Canadian neonatal intensive care units during 2010 to 2013. The primary outcome was a composite of mortality or morbidity (bronchopulmonary dysplasia, severe retinopathy, periventricular leukomalacia or nosocomial infection). Association of intestinal perforation with neonatal outcome was evaluated using multivariate logistic regression. RESULT: SIP was present in 178 (1.0%) infants, NEC-related perforation in 246 (1.4%) and NEC without perforation in 538 (3.1%). Any intestinal perforation was associated with higher odds of the composite outcome (adjusted odds ratio (AOR): 8.21, 95% confidence interval (95% CI) 6.26 to 10.8); however, the odds were significantly lower for focal/SIP compared with NEC-related perforation (AOR: 0.29, 95% CI 0.17 to 0.51). CONCLUSION: Of the two types of intestinal perforation, NEC-related perforation was associated with the highest risk of an adverse neonatal outcome.
Subject(s)
Cross Infection/epidemiology , Enterocolitis, Necrotizing/diagnosis , Infant, Extremely Premature , Infant, Premature, Diseases/classification , Infant, Premature, Diseases/epidemiology , Intestinal Perforation/diagnosis , Canada , Enterocolitis, Necrotizing/complications , Female , Gestational Age , Humans , Infant , Infant Mortality , Infant, Newborn , Intensive Care Units, Neonatal , Logistic Models , Male , Multivariate Analysis , Odds Ratio , Retrospective Studies , Risk Factors , Severity of Illness IndexABSTRACT
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 (10.8%) were found using karyotype analysis. Anomalies were detected in 61 cases out of 432 primary amenorrhea patients (14.12%) and 47 cases out of 568 secondary amenorrhea patients (8.27%). In 23 POF patients among 200 (11.5%) with 46,XX normal karyotype and explored using interphase FISH analysis, the percentage of cells with X-chromosome monosomy was significantly higher as compared with controls in the same age. The cytogenetic study of POF patients showed a high prevalence of chromosome anomalies either in primary or in secondary amenorrhoea. Mosaic X-chromosome s aneuploïdy was the most frequent abnormality and some patients with POF may be attributable to low-level 45,X/46,XX mosaicism detectable using FISH analysis.
Subject(s)
In Situ Hybridization, Fluorescence/methods , Interphase , Primary Ovarian Insufficiency/genetics , Primary Ovarian Insufficiency/pathology , Adolescent , Adult , Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, X/genetics , Female , Humans , Karyotyping , Monosomy/genetics , Young AdultABSTRACT
We know better the violences made by the youngs than those they suffer from. The purpose of this study is to assess, as for a city surrounding Paris, the prevalence of the violences they felt and its relation with the psychic uneasiness. Some 344 youngs (from 15 to 25 years old) selected in the city, have filled in an autoquestionnaire. It has shown that 61.6% of them have already suffered from violences, among them 44.5% from adults and what is more from institutional adults. 13.7% of the selected youngs were victims of regular violences in school sphere and 12.8% in urban environment. The expression of a psychic uneasiness is linked to the previous violences they have felt. The feeling of call for help by a psychologist or a psychiatrist is in relation with the past psychic discomfort and not with the past suffered violences.
