The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.

Around 70 percent of cases of Primary Ovarian Insufficiency (POI) etiology remain unexplained. The aim of our study is to contribute to the etiology and genetic background of POI. A total of 37 POI patients and 30 women in the reproductive period were included in this prospective, case-control study between August 2020 and December 2021. The women were examined for 36 genes with next-generation sequencing (NGS) panel. Gene variations were detected in 59.5 percent of the patients in the case group. FSHR p.S680N (rs6166, c.2039 G>A) and FSHR p.A307T (rs6165, c.919 G>A) gene variants, which are most frequently located in exon 10 of the FSHR gene, were detected in both groups. Although it was not found that these gene variants were significantly different between the groups, it was also found that they were significantly different in POI patients under 30 years of age and in those with a family history of POI. Variations were detected in 12 genes in POI patients. Two gene variants (FGFR1 [c.386A>C, rs765615419] and KISS1 [c.58 G>A, rs12998]) were detected in both groups, and the remaining gene variants were detected only in POI patients. No differences were detected between the groups in terms of gene variations. However, the gene variations detected only in POI patients may play a role in the etiology of POI.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

Effects of atorvastatin on smoking-induced alveolar injury in rat lungs.

BACKGROUND: Smoking is one of the most serious health care issues worldwide, as one third to one half of all people who smoke eventually use tobacco habitually. Chronic smoke exposure causes airway and lung parenchymal inflammation and the destruction of alveolar cell walls. Statins may have anti-inflammatory effects that would play a role in preventing the cellular damage associated with smoking. OBJECTIVE: The aim of this study was to investigate whether atorvastatin protects against smoking-induced inflammation in alveolar epithelial type I (ATI) and type II (ATII) cells in the lungs of rats. METHODS: Adult male albino Wistar rats (200-250 g) were randomly divided into 3 groups and exposed to cigarette smoke 8 hours per day for 15 days. During that 15-day period, the 2 treatment groups received atorvastatin 0.5 or 1.0 mg/kg/d in 2 mL of methyl cellulose solution and the control group received 2 mL of methyl cellulose solution alone, all via nasogastric catheter. After the 15 days, the lungs were excised and the tissues were examined by transmission electron microscopy. RESULTS: Thirty rats were divided into 3 groups of 10 rats each. All rats survived the 15 days. In the atorvastatin 0.5-mg group, no changes were found in the ATI cells or in the blood-air barrier. In the atorvastatin 1.0-mg group, we observed hyperplasia in the common basal membranes. Hypertrophy, mitochondrial crystolysis (MC), and intracytoplasmic edema (ICE) were detected in the ATI cells in the 1.0-mg group, while chromatin condensation, atrophic appearance, cell shrinkage, and cyto-plasmic vacuolization were observed in the ATII cells. The rough endoplasmic reticulum (rER) tubules of the ATII cells appeared spiral-shaped. In the control group, minimal ICE was detected in the ATI cells. However, microvillus deformation, pseu-dopod formation, edema, mitochondrial swelling, and MC were observed in the ATII cells. We also observed MC, several pinocytic vesicles, and normal rER tubules in the endothelial cells of the control group. CONCLUSIONS: The administration of atorvastatin 0.5 mg/kg/d was associated with some attenuation of lung injury caused by smoke inhalation in these rat lungs. However, atorvastatin 1.0 mg/kg/d was associated with lung damage. Future studies are needed to evaluate the dose-response relationship of atorvastatin to smoking-induced alveolar damage.

Factor V Leiden mutation in venous thrombosis in southeast Turkey.

Venous thrombosis (VT) is a common disease, with an annual incidence in the general population of approximately 1 per 1,000. Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis. The prevalence of FVL for thrombosis varies greatly in different regions of the world. FVL mutation has been identified both by conventional method and fluorescence resonance energy transfer (FRET) with the LightCycler. Sixty-one patients with VT, different in age and sex, were consecutively entered into this study to assess the prevalence of FVL in VT in southeast Turkey. FVL mutation was found in 24.6% (15/61). Fourteen individuals were heterozygous and 1 homozygous, a rate of 22.9% and 1.6%, respectively. In conclusion, the authors suggest that FVL mutation is common in patients with venous thrombosis in southeast Turkey.