Results 51 to 60 of about 3,198 (197)

Research progress in the role of DHX37 gene in disorders of sex development

Shanghai Jiaotong Daxue xuebao. Yixue ban
Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
doaj   +1 more source

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Endocrine Connections, 2023
Diagnosis and management strategy of disorders of sex developme nt (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified ...
Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wang   +8 more
doaj   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1
Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, Ben Hamel   +4 more
doaj   +1 more source

Monolithic Framework to Simulate Fluid‐Structure Interaction Problems Using Geometric Volume‐of‐Fluid Method

International Journal for Numerical Methods in Fluids, EarlyView.
A three‐dimensional fluid‐structure interaction (FSI) framework is developed using the geometric volume‐of‐fluid (VOF) interface capturing method and applied to assess largescale turbulent FSI interactions. The monolithic FSI framework is extensively validated, and despite the discontinuities across the interface, the FSI framework delivers stable and ...
Soham Prajapati, Ali Fakhreddine, Krishnan Mahesh   +2 more
wiley   +1 more source

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

JCRPE, 2020
Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.Methods:The purpose of this study was to investigate the results of gender assignment
Fatih Gürbüz, Murat Alkan, Gonca Çelik, Atıl Bişgin, Necmi Çekin, İlker Ünal, Ali Kemal Topaloğlu, Ünal Zorludemir, Ayşe Avcı, Bilgin Yüksel   +9 more
doaj   +1 more source

The role of additives in the film formation kinetics of active layers in organic solar cells: From in situ characterization to mechanistic elucidation

FlexMat, EarlyView.
This review highlights the critical regulatory role of liquid and solid additives in the film formation kinetics of organic solar cells (OSCs) active layer. Real‐time in situ characterization technology techniques (in situ UV‐Vis, PL, GIWAXS, and GISAXS) are utilized to monitor the dynamic solution‐to‐solid transformation, revealing how additives ...
Yuanwei Zhao, Weichao Zhang, Tianyu Zhang, Jigui Tang, Yali Chen, Zheling Zhang, Dongjie Wang, Jian Zhang, Huiqiong Zhou   +8 more
wiley   +1 more source

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

JCRPE, 2023
INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD)
Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli   +10 more
doaj   +1 more source

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. [PDF]

PLoS One, 2015
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE.   +10 more
europepmc   +11 more sources