rs1801133 was associated with a 7.45 months (95% CI 4.09, 10.80) increase in age at menopause and 29.69 (12.87, 46.51) g decrease in offspring birthweight per SD increase in Hcy in the UK biobank, and confirmed in EGG and ReproGen. MR for Hcy metabolism alone (five variants in MTHFR, MTR, CBS) showed similar results for offspring birthweight across consortia. However, using all 18 variants resulted in no association for any of the outcomes across consortia. Hcy and suggestively vitamin B variants are most likely the drug targets for folate supplementation in pregnant women on the offspring birthweight, while Hcy variants related to renal function or diabetes are not involved.Hcy and suggestively vitamin B variants are most likely the drug targets for folate supplementation in pregnant women on the offspring birthweight, while Hcy variants related to renal function or diabetes are not involved. The purpose of this study was (1) to compare body volume (BV) estimated from a 2-dimensional (2D) image analysis program (BV ), and a dual-energy x-ray absorptiometry (DXA) equation (BV ) to an underwater weighing (UWW) criterion (BV ); (2) to compare relative adiposity (%Fat) derived from a 3-compartment (3C) model using BV (%Fat ), and a 4-compartment (4C) model using BV (%Fat ) to a 4C criterion model using BV (%Fat ). Forty-eight participants were included (60% male, 22.9 ± 5.0 years, 24.2 ± 2.6 kg/m ). BV was derived using a single digital image of each participant taken from the rear/posterior view. DXA-derived BV was calculated according to Smith-Ryan et al. Bioimpedance spectroscopy and DXA were used to measure total body water and bone mineral content, respectively, in the 3C and 4C models. selleck chemical A standardized mean effect size (ES) assessed the magnitude of differences between models with values of 0.2, 0.5, and 0.8 for small, moderate, and large differences, respectively. Data are presented as mean ± standard deviation. Near-perfect correlation (r = 0.998, p < 0.001) and no mean differences (p = 0.267) were observed between BV (69.6 ± 11.5 L) and BV (69.5 ± 11.4 L). No mean differences were observed between %Fat and the %Fat criterion (p = 0.988). Small mean differences were observed between %Fat and %Fat (ES = 0.2, p < 0.001). %Fat exhibited smaller SEE and TE, and tighter limits of agreement than %Fat . The 2D image analysis program provided an accurate and non-invasive estimate of BV, and subsequently %Fat within a 3C model in generally healthy, young adults.The 2D image analysis program provided an accurate and non-invasive estimate of BV, and subsequently %Fat within a 3C model in generally healthy, young adults.Constitutional thinness is defined as a state of severe underweight with a body mass index similar to anorectic patients (BMI  less then  17.5 kg/m2), in the absence of any eating disorders or other obvious disruptive factors impacting energy balance. The analysis of body composition is essential as a first approach to characterize constitutional thinness and might help identify new discriminating differences between constitutional thinness and anorexia nervosa. A meta-analytical approach was performed to compare body composition of constitutionally thin, anorectic, and normal-weight subjects from all available studies found in the literature. The statistical analysis was carried out on large sample sizes n = 205 females with constitutional thinness, n = 228 normal-weight control females, and n = 258 females with anorexia nervosa. Despite being as underweight as anorectic patients, constitutionally thin participants paradoxically presented higher percentages of fat mass than anorectic patients (18.9% vs. 11.4%, respectively; SMD [95% CI] 1.62 [1.16; 2.08]), even found in the normal healthy ranges. Constitutionally thin people, however, display as low fat-free mass as anorectic patients. These observations question the use of high-fat diets in this population and bring new insights for nutrition and/or training strategies directed toward muscle mass gain. The present results give new elements to further distinguish constitutional thinness from anorexia nervosa and reinforce the need to better investigate the atypical phenotype of constitutional thinness.The 2016 WHO classifies IDH-mutant gliomas into oligodendroglioma or diffuse astrocytoma based on co-occurring genetic events. Recent literature addresses the concept of stratifying IDH-mutant gliomas based on prognostically significant molecular events. However, the presence of a second class-defining driver alteration in IDH-mutant gliomas has not been systematically described. We searched the sequencing database at our institutions as well as The Cancer Genome Atlas (TCGA) and cBioPortal for IDH-mutant gliomas with other potentially significant alterations. For each case, we reviewed the clinical information, histology and genetic profile. Of 1702 gliomas tested on our targeted exome sequencing panel, we identified 364 IDH-mutated gliomas, four of which had pathogenic FGFR alterations and one with BRAF V600E mutation. Five additional IDH-mutant gliomas with NTRK fusions were identified through collaboration with an outside institution. Also, a search in the glioma database in cBioPortal (5379 total glioma ic and treatment value.Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically similar, do not have obvious Wolffian derivation. Here, we sought to characterize the repertoire of genetic alterations in primary mesonephric and mesonephric-like carcinomas, in the distinct histologic components of mixed cases, as well as in matched primary tumors and metastases. DNA from microdissected tumor and normal tissue from mesonephric carcinomas (cervix, n = 8) and mesonephric-like carcinomas (ovarian n = 15, endometrial n = 13) were subjected to sequencing targeting 468 cancer-related genes. The histologically distinct components of four cases with mixed histology and four primary tumors and their matched metastases were microdissected and analyzed separately. Mesonephric-like carcinomas were underpinned by somatic KRAS mutations (25/28, 89%) akin to mesonephric carcinomas (8/8, 100%), but also harbored genetic alterations more frequently reported in Müllerian tumors.