OLIGOGENIC ANALYSIS ACROSS BROAD PHENOTYPES OF 46,XY DIFFERENCES IN SEX DEVELOPMENT ASSOCIATED WITH NR5A1/SF-1 VARIANTS: FINDINGS FROM THE INTERNATIONAL SF1NEXT STUDYRESEARCH IN CONTEXT

Summary: Background: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants.Methods: We investigated genetic patterns of possible oligogenicity in a cohort of 30 individuals with NR5A1/SF-1 variants and 46,XY DS

Abstract Background Recently we reported the design and evaluation of floating semi-implantable devices that receive power from and bidirectionally communicate with an external system using coupling by volume conduction.The approach, of which the semi-implantable devices are proof-of-concept prototypes, may overcome some limitations presented by ex

In this article, temperature and moisture distributions in a finite-length hollow cylinder made of functionally graded Waterpipe material (FGM) under transient coupled hygrothermal condition was presented.The coupled equations of heat conduction and moisture diffusion were solved employing the Fourier series expansion method along the longitudinal

Incremental learning-based fault diagnosis systems (IFD) are widely used because of their ability to handle constantly updated fault data and types.However, the catastrophic forgetting problem remains the most crucial contemporary challenge facing IFD.This paper proposes an incremental fault diagnosis method based on metric feature Snow Cone Maker

Walnut flour (WF) is a nutrient-rich source that can be used as an alternative for individuals on a gluten-free diet.This study aimed to assess the physical, chemical, and sensory changes in low-carbohydrate bread when supplemented with WF.Molecular-level changes were also examined using ATR-FTIR spectra.The bread recipe, containing buckwheat and f