Results 61 to 70 of about 47,634 (314)

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Association of abnormal placental perfusion with the risk of male hypospadias: a hospital-based retrospective cohort study

BMC Pregnancy and Childbirth, 2020
Background The effect and extent of abnormal placental perfusion (APP) on the risk of male hypospadias are poorly understood. We compared the prevalence of male hypospadias in the offspring of women with APP and quantify the extent of the APP effect on ...
Chen Zhu, Bin Zhang, Ting Peng, Ming-Qing Li, Yun-Yun Ren, Jiang-Nan Wu   +5 more
doaj   +1 more source

Appraisal of hypospadias repair at University of Nigeria Teaching Hospital Enugu

International Journal of Medicine and Health Development, 2021
Background: Hypospadias repair is one of the most common urologic surgeries performed in male children. Various surgical repairs and modifications of existing ones have evolved over the past decades.
Ijeoma Chioma Obianyo, Christopher Chim Amah, Nene Elsie Obianyo   +2 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Comparison of anogenital distance and correlation with vulvo-vaginal atrophy: a pilot study on premenopausal and postmenopausal women [PDF]

, 2018
OBJECTIVES: Anogenital distance (AGD) represents the space between labia posterior commissure and anus. This was pilot study to investigate how menopause and so lack of oestrogens affects AGD. METHODS: A total of 109 patients were enrolled.
Benedetti Panici, Pierluigi, Bracchi, Carlotta, Colagiovanni, Vanessa, Di Donato, Violante, Domenici, Lavinia, Lecce, Francesca, Marchetti, Claudia, Musella, Angela, Muzii, Ludovico, Palaia, Innocenza, Schiavi, Michele Carlo, Tomao, Federica   +11 more
core   +1 more source

Toxicity of Four Common Environmental Chemicals Across Caenorhabditis elegans Life Stages Supporting the One Health Concept

Environmental Toxicology, EarlyView.
ABSTRACT Pesticides and pharmaceuticals are among the most common chemical groups in waterbodies and soils, and their universal distribution raises concerns about potential adverse effects on nontarget organisms and humans. Reproductive output disruption is of particular concern, as it transposes effects from the individual to the next generations at ...
Fábio Campos, Maria D. Pavlaki, Amadeu M. V. M. Soares, Susana Loureiro   +3 more
wiley   +1 more source

Tubularized incised plate and onlay island flap urethroplasty for management of fresh and recurrent hypospadias repair

Al-Azhar Assiut Medical Journal
Background and aim Hypospadias is the most prevalent congenital abnormality of the male genitalia, recurrent hypospadias is a term referrer to patients who have undergone unsuccessful attempts for hypospadias repair due to complications, and the proper ...
Mohamed M.A.A. Hamid, Hazem A.S. Deif, Emadeldeen S.A. Saleh, Mahmoud I.A.A. Baqi   +3 more
doaj   +1 more source

Whole-exome sequencing study of hypospadias

iScience, 2023
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +7 more
doaj   +1 more source