Results 51 to 60 of about 18,332 (236)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Clinical characteristics and breed-related distribution of canine cryptorchidism: a retrospective study between 2018 and 2025

Journal of Animal Reproduction and Biotechnology
Background: Cryptorchidism is the most common congenital abnormality affecting male reproductive development in dogs. Castration is generally recommended for affected individuals, and many cases are identified incidentally during elective procedures.
Minsu Baek, Sang-Yun Lee, Won-Jae Lee, Dong-Ju Park, Young-Bum Son   +4 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Maternal gestational smoking, diabetes, alcohol drinking, pre-pregnancy obesity and the risk of cryptorchidism: a systematic review and meta-analysis of observational studies.

PLoS ONE, 2015
BackgroundMaternal gestational smoking, diabetes, alcohol drinking, and pre-pregnancy obesity are thought to increase the risk of cryptorchidism in newborn males, but the evidence is inconsistent.MethodWe conducted a systematic review and meta-analysis ...
Lin Zhang, Xing-Huan Wang, Xin-Min Zheng, Tong-Zu Liu, Wei-Bin Zhang, Hang Zheng, Mi-Feng Chen   +6 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Criptorquidia na adolescência.

Acta Médica Portuguesa, 2011
An early investigation and management op cryptorchidism are essential for the diagnosis of associated pathologies, because intra-abdominal testis are associated with infertility and neoplasic risk.
Joana Ramos Pereira, Sérgio Neves, Filipa Leite, Cristina Baptista, Elisabete Santos, Alzira Ferrão, Carlos Figueiredo   +6 more
doaj   +1 more source

STUDY OF RISK FACTORS IN ISOLATED HYPOSPADIA PATIENTS [PDF]

, 2010
Background : The incidence of hypospadia tends to increase while the etiology is still unclear. The risk factors of hypospadia have not been studied yet in Indonesia.
Vikawati, Nura Eky
core  

Residence Near Agricultural Crops at Birth and Risk of Adult Testicular Germ Cell Tumors: A French Nationwide Case–Control Study Using Historical Aerial GIS Data

International Journal of Cancer, EarlyView.
As the incidence of testicular germ cell tumors (TGCTs) rises, prenatal exposure to agricultural pesticides may represent an important risk factor. Here, geographic information system‐based measures of farmland proximity at birth were used as a proxy for early‐life pesticide exposure in France, a major pesticide consumer.
Aurélie M. N. Danjou, Astrid Coste, Lény Grassot, Elodie Faure, Carlos Crispim‐Junior, Laure Tougne Rodet, Olivia Pérol, Rémi Béranger, Jeanne Perrin, Barbara Charbotel, Joachim Schüz, Béatrice Fervers, the TESTIS study group, Helen Boyle, Aude Fléchon, Elodie Belladame, Véronique Drouineaud, Céline Chalas, Myriam Virlouvet, Lucile Ferreux, Guillemette Perier, Pauline Peretout, Diane Rivet, Sandrine Rulle, Florence Eustache, Nathalie Sermondade, Marine Durand, Rachel Levy, Isabelle Berthaut, Jacqueline Saias‐Magnan, Catherine Metzler‐Guillemain, Carole Daoud‐Deveze, Louis Bujan, Myriam Daudin, Florence Brugnon, Valérie Bruhat, Cyril Bouche, Isabelle Kocsinski, Marius Teletin, Françoise Schmitt, Nathalie Guyomard, Aline Papaxanthos, Volcy Soula, Sandrine Giscard d’Estaing, Pascale Dehee, Delphine Yalcinkaya, Céline Bouillon, Cynthia Frapsauce, Anne Viallon, Bérengère Ducrocq, Marie‐Ange Clarotti, Ethel Szerman, Amélie Ancelle, Oxana Blagosklonov, Séverine Bey, Célia Ravel, Ségolène Veau, Agnès Letremy, Patricia Fauque, Julie Barberet, Stéphanie Lattes, Emmanuelle Thibault, Catherine Diligent, Christel Hersant, Vanessa Loup‐Cabaniols, Anna Gala, Sylvianne Hennebicq, Julien Bessonnat, Marie‐Claude Blocquaux, Brigitte Dananché, Johan Spinosi, Matthieu Dubuis, Charlotte Carretero, Etienne Durand, Bénédicte Thomas, Rémi Ratajczak   +75 more
wiley   +1 more source

SPARK: A webserver for comprehensive search and analysis of testicular single‐cell transcriptomic data covering full lifecycle and pathology

iMetaOmics, EarlyView.
SPARK is an interactive platform hosting 189,232 human testicular single‐cell transcriptomes across normal and infertile conditions. It enables automated, code‐free analysis and visualization, providing a powerful resource to explore cellular and molecular dynamics in male reproduction and infertility.
Lina Cui, Xiaojian Lu, Hui Cai, Ziyan Zhuang, Yifei Guo, Qiaoling Jiang, Zhe Zhang, Hui Jiang, Xiaoyan Wang, Jingtao Guo   +9 more
wiley   +1 more source