Results 101 to 110 of about 1,109,166 (346)

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González   +6 more
doaj   +1 more source

Imaging of disorder of sex development

Annals of Saudi Medicine, 2013
Disorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation.
openaire   +3 more sources

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Elevated fetal steroidogenic activity in autism [PDF]

, 2014
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Abdallah, M W, Auyeung, B, Baron-Cohen, S, Chakrabarti, B, Cohen, A S, Hougaard, D M, Lombardo, M V, Melgaard, L, Nørgaard-Pedersen, B, Ruta, L   +9 more
core   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY

Бюллетень сибирской медицины, 2015
Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev, L. N. Samsonova, E. P. Kasatkina, G. F. Okminyan, Ye. V. Kiselyova, Ye. S. Timofeyeva   +5 more
doaj   +1 more source

Germ cell tumors in patients with disorders of sex development: Risk factors, initial developmental stages and targets for early diagnosis [PDF]

, 2006
This thesis describes the origin, identification and correct diagnosis of the earliest stages of malignant germ cell tumors, i.e. intra tubular germ cell neoplasia unclassified (ITGNU) and gonadoblastoma, in patients with disorders of sex development ...
Cools, M.B.C.M. (Martine)
core  

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development

Advances in Human Biology
Disorders of sex development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. There are many genes associated with DSD, and one of them is the androgen receptor (AR) gene, which
Ziske Maritska, M Irsan Saleh, Fachmi Idris, Zen Hafy, Didit Pramudhito, Kemas Yusuf Effendi   +5 more
doaj   +1 more source