Results 121 to 130 of about 167,087,863 (243)

The XX Factor in Hemophilia: Diagnostic, Therapeutic, and Research Gaps for Women and Girls

Haemophilia, EarlyView.
ABSTRACT Introduction Hemophilia has traditionally been viewed as an X‐linked disorder affecting men and boys, with women and girls labeled as “carriers”, presumed to be clinically unaffected. This paradigm has contributed to under‐recognition, delayed diagnosis, and undertreatment of females with hemophilia‐associated genotypes despite an increasingly
Kelsey Uminski, Ellen Cusano
wiley   +1 more source

Androgen insensitivity syndrome: a review

Archives of Endocrinology and Metabolism
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically ...
Rafael Loch Batista, Elaine M. Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria Jr., Mirian Y. Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca   +8 more
doaj   +1 more source

Disentangling direct and indirect genetic pathways to neurodevelopmental risk: brain structure and behavior in a population‐based parent–offspring trio study

Journal of Child Psychology and Psychiatry, EarlyView.
Background Neurodevelopmental disorders (NDDs) are highly heritable, yet the pathways linking parental genetic liability to child outcomes remain poorly understood. Traditional designs cannot easily separate genes transmitted to the child from environmental influences shaped by parental genotypes.
Fin J. E. van Uum, Yllza Xerxa, Alexander Neumann, Jean‐Baptiste Pingault, Charlotte A. M. Cecil, Mina Shahisavandi, Koen Bolhuis, Boglarka Kovacs, Henning Tiemeier, Ryan L. Muetzel, Neeltje E. M. van Haren   +10 more
wiley   +1 more source

A Rare Case Report of Ovo testicular Disorder of Sex Development in an Ambiguous Genitalia Case

Journal of Public and Clinical Health Research
Usually, the distinction between male and female is considered absolute, allowing for instantaneous sex assignment at birth. This process is based primarily on external genitalia, which are typically classified as either male or female. However, in rare
Dulari Gandhi, Poojan Joshi, Yuvraj Vala, Rishilkumar Patel, Aftabhusen Memon   +4 more
doaj   +1 more source

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

, 2015
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive.
Wudy, Stefan A., Lünstedt, Ralf, Thorns, Christoph, Werner, Ralf, August, Julia M., Kulle, Alexandra, Mönig, Isabel, Hiort, Olaf, Wünsch, Lutz, Freiberg, Clemens, Richter-Unruh, Annette, Reiz, Benedikt, Döhnert, Ulla, Holterhus, Paul-Martin   +13 more
core   +1 more source

Influence of age on the development of stress hyperglycemia during first‐onset ST‐elevation myocardial infarction

Journal of Diabetes Investigation, EarlyView.
Among 8,779 non‐diabetic patients with first‐onset STEMI, older age was associated with a higher likelihood of stress hyperglycemia. However, the excess mortality risk associated with stress hyperglycemia was greatest in younger patients and attenuated with advancing age, highlighting the possibility of age‐dependent prognostic significance.
Hon Jen Wong, Joy Xin Yi Au, Yao Hao Teo, Yao Neng Teo, Chen Ee Low, Chun En Yau, Norman H.Y. Lin, Pei Chia Eng, Li Feng Tan, Reshma A. Merchant, Ping Chai, Anand Adinath Ambhore, James W. L. Yip, Andrew Fu‐Wah Ho, David Foo, Pow‐Li Chia, Patrick Zhan‐Yun Lim, Khung Keong Yeo, Weien Chow, Daniel Thuan Tee Chong, Derek J. Hausenloy, Mark Y. Y. Chan, Ching‐Hui Sia   +22 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report

Gynecologic Oncology Reports
The diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue, Shuqi Zuo, Min Cui, Xingbo Zhao, Xiaoyi Qi   +4 more
doaj   +1 more source

Psychological Pathways From Disease Activity to Quality of Life in Ulcerative Colitis and Crohn's Disease: A Cross‐Sectional Serial Mediation Study

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To examine whether psychological distress and self‐efficacy serially mediate the relationship between disease activity and quality of life in patients with ulcerative colitis and Crohn's disease. Design A cross‐sectional study. Methods We included 525 hospitalized patients with inflammatory bowel disease (224 with ulcerative colitis, 301 ...
Qiuxia Jiang, Alan Liu, Juan Liu, Lili Wu, Qian Zhang, Qing Xu, Li Xie, Yue Yu, Yan Xu   +8 more
wiley   +1 more source

From senescence and inflammaging to systemic comorbidities: Drivers of aging‐associated periodontitis

Periodontology 2000, EarlyView.
Abstract Background Aging is accompanied by a chronic low‐grade inflammatory process, known as inflammaging, as well as immunosenescence, an age‐related decline and dysregulation of immune function, and cellular senescence, a process in which cells enter a state of irreversible growth arrest while actively releasing pro‐inflammatory factors.
James Cheng, Chew Tin Zar Aung, Samuel F. Suslavich, Sinem Esra Sahingur, Yvonne L. Hernandez‐Kapila   +4 more
wiley   +1 more source