Results 41 to 50 of about 16,602 (182)

Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families

Frontiers in Genetics, 2023
Objective: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a variety of genomic variations. Our aim is to identify the molecular basis of OCA in two families and lay the foundation for prenatal diagnosis.Methods: Four types of ...
XiaoFei Chen, XiaoFei Chen, ZiShui Fang, ZiShui Fang, Ting Pang, DongZhi Li, Jie Lei, Jie Lei, WeiYing Jiang, HongYi Li   +9 more
doaj   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Prevalence and Characteristics of Prostatic Utricles: A Retrospective MRI Study in Middle-Aged to Elderly Men. [PDF]

Prostate
ABSTRACT Background Congenital urological malformations encompass a wide range of anomalies affecting the urinary tract and reproductive organs. MRI has emerged as a diagnostic tool in identifying these conditions. Prostatic utricle is an enlarged diverticulum in the posterior urethra, which results from incomplete degradation of the Müllerian ducts or
Bashi T, Kamshov S, Kidron A, Barnes S, Nevo A, Dekalo S, Bar-Yosef Y.   +6 more
europepmc   +2 more sources

Systematic review and meta‐analysis of COVID‐19 association with human semen quality: Changes in semen parameters pre‐ and post‐COVID

UroPrecision, EarlyView.
Abstract Coronavirus disease (COVID‐19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), which may infect the cells through binding with the angiotensin‐converting enzyme 2 (ACE2) receptors that can also be found in the male reproductive organs.
Wempy Supit, Tommy Supit, Sherryn Sherryn   +2 more
wiley   +1 more source

Imaging of the scrotum: beyond sonography

Insights into Imaging, 2018
The aim of this article is to describe the role of second-level imaging techniques after an initial ultrasonography evaluation in the assessment of scrotal diseases. While ultrasonography remains central as the primary imaging modality for the evaluation
Gian Carlo Parenti, Francesco Feletti, Aldo Carnevale, Licia Uccelli, Melchiore Giganti   +4 more
doaj   +1 more source

Ethylene glycol intoxication (antifreeze poisoning) in a domestic ferret (Mustela putorius furo)

Veterinary Record Case Reports, EarlyView.
ABSTRACT An 8‐year‐old, 1.06 kg, male castrated, domestic ferret (Mustela putorius furo), was presented with an antifreeze (ethylene glycol) poisoning. The relevant medical history shows a T‐cell lymphoma diagnosed 8 months ago and was being treated with prednisolone.
Sören Nieweg, Sebastian Cichowski, Kerstin Müller   +2 more
wiley   +1 more source

Urogenital Myiasis Caused by Psychoda Albipennis: A Case Report

Journal of Urological Surgery, 2015
Urogenital myiasis is one of the parasitic diseases of the urinary system. We report a case of urogenital myiasis caused by Psychoda albipennis in a 64-year-old male patient.
Ersagun Karagüzel, Ömer Kutlu, Kurtuluş Buruk, Ali Ertan Okatan, Güner Kemal Özgür   +4 more
doaj   +1 more source

Renal lymphoma diagnosis via urinary cytology and PCR for antigen receptor rearrangement in a cat

Veterinary Record Case Reports, EarlyView.
Abstract A client‐owned 8‐year‐old male neutered Norwegian Forest cat presented with suspected neurological episodes. Cellular preservation was poor on a cytocentrifuged slide of a urine sample from cystocentesis; however, low‒moderate numbers of possible variably sized lymphocytes were observed, raising concern for lymphoma.
Shogo Kimura, Katharine S. Woods, M. Casey Gaunt   +2 more
wiley   +1 more source

Implications of Tobacco Use on Pathogen‐Driven Diseases: A Public Health and Policy Perspective

World Medical &Health Policy, EarlyView.
ABSTRACT The tobacco epidemic remains one of the most significant global public health challenges, responsible for over 8 million deaths annually, with a substantial portion occurring among non‐smokers exposed to second‐hand smoke. While cigarette smoking remains the most prevalent form of tobacco use worldwide, the rise of electronic nicotine delivery
Nadine Kabbani, James L. Olds
wiley   +1 more source

Hormone Replacement Therapy Uptake and Discontinuation Trends From 1996‐2023: An Observational Study of the Welsh Population

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To analyse prescribing trends for oral and transdermal hormone replacement therapy (HRT) in Wales from 1996 to 2023, including predictors of discontinuation within one year of initiation. Design Observational study using the Secure Anonymised Information Linkage (SAIL) databank.
Robin Andrews, Arron Lacey, Kate Bache, Emma J. Kidd   +3 more
wiley   +1 more source