Results 51 to 60 of about 736,585 (190)

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, Volume 74, Issue S1, Page S31-S40, September 2026.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

A Case of Mayer–Rokitansky–Küster–Hauser Syndrome with a Fused Pancake-shaped Pelvic Kidney

Advanced Biomedical Research, 2019
Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome is a female reproductive system disorder. It is characterized by a defect in the Müllerian ducts development, and it causes the absence of the uterus in variable degrees in upper vaginal hypoplasia.
Ali Reza Eftekhari Moghadam, Ghasem Saki, Mahin Taheri Moghadam, Seyed Mohamad Hossein Mohseni, Vajieh Heidari, Mohammad Hossein Jamshidi   +5 more
doaj   +1 more source

Contrast‐Enhanced Voiding Urosonography for Diagnosis of Ectopic Ureters in Five Female Dogs

Veterinary Radiology &Ultrasound, Volume 67, Issue 5, September 2026.
ABSTRACT The aim of the study was to describe the implementation of contrast‐enhanced voiding urosonography (CE‐VUS), a new, alternative, radiation‐free imaging technique, for diagnosing ectopic ureters (EUs) in dogs. Five dogs were presented for evaluation of recurrent urinary tract infections and urinary incontinence.
Georgia Trikoupi, Lysimachos Papazoglou, Paraskevi Papadopoulou   +2 more
wiley   +1 more source

Uterus Didelphys with an Obstructed Unilateral Vagina by a Transverse Vaginal Septum Associated with Ipsilateral Renal Agenesis: OHVIRA Syndrome − An Unusual Case Report and Review of Literature

MAMC Journal of Medical Sciences, 2017
The triad of uterine didelphys, obstructed hemivagina, and unilateral renal agenesis, called as OHVIRA syndrome is the least common of all Mullerian malformations.
Urvashi Chhikara, Latika Sahu, Asmita Rathore   +2 more
doaj   +1 more source

Zinner Syndrome: A Rare Case Report

Journal of Urological Surgery
Over 200 cases of seminal vesicle cysts linked to ipsilateral renal agenesis have been reported in the literature, indicating Zinner syndrome. This condition occurs when the ureteric buds fail to meet the metanephros, leading to cystic dilatation in the ...
Gaurang R. Shah, Achint Bajpai, Husain Burhanpurwala   +2 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A case of congenital unilateral absence of the vas deferens

International Medical Case Reports Journal, 2013
Bi Mo,1 Vishnu Garla,2 Lawrence M Wyner1 1Department of Surgery, 2Department of Internal Medicine, Marshall University, Huntington, WV, USA Background: Congenital unilateral absence of the vas deferens occurs in 0.5%–1.0% of males.
Mo B, Garla V, Wyner LM
doaj  

Dental Management of a 9‐Year‐Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr, Ariana Golabbakhsh, Nayereh Ahmadi, Razie Jahadakbar, Nosrat Nourbakhsh   +4 more
wiley   +1 more source