Results 91 to 100 of about 466,640 (333)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Diagnosis of an Aneurysm of the Vein of Galen by Three-Dimensional Power and Color Doppler Ultrasonography

, 2012
Aneurism of the vein of Galen is a complex arteriovenous malformation which is of multiply communications between of the vein of Galen and the cerebral arteries. It represents less than 1% of the cerebral arteriovenous malformations.
Antonio Fernandes Moron, Livia Teresa Moreira Rios, Marília da Glória Martins, Luciano Marcondes Machado Nardozza, Edward Araujo Júnior   +4 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Intrauterine intussusception presenting as fetal ascites at prenatal ultrasonography.

, 2004
Intrauterine intussusception, an uncommon cause of bowel obstruction, has rarely been detected by prenatal ultrasonography. We report two cases of intrauterine intussusception after gestation, which presented as isolated fetal ascites at 30 weeks of ...
Chang, KH, Ryu, HS, Joo, HJ, Kim, HS, Yang, JI, Hong, J   +5 more
core   +1 more source

Ultra-sonografia pré-natal no diagnóstico de aneurisma da veia de Galeno.

Acta Médica Portuguesa, 2010
Vein of Galen aneurysm is a rare congenital anomaly, originated from a defect in fusion of internal cerebral veins. Due to low resistance, it produces high debit cardiac insufficiency.
Lizarda Félix, Alex Rolland Souza, Ana Patrícia Queiroz, Carolina Diniz, Marcelo Lima, Roberta Espínola Santos, Alexandre S Cardoso   +6 more
doaj   +1 more source

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

Biological Reviews, EarlyView.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater, Adam Dušek, Aleksandra Bartelik, Silvia Mandillo, Elisabetta Golini, Mara Rigamonti, Rasneer Sonia Bains, Hamish Forrest, Marion Rivalan, Melissa Long, Anna Kiryk, Lars Lewejohann, Nuno Henrique Franco   +12 more
wiley   +1 more source

Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions.
Wen-Chien Hou, Chih-Ping Chen, Kwei-Shuai Hwang, Ying-Chieh Chen, Yu-Ju Lai, Chau-Yang Tien, Her-Young Su   +6 more
doaj   +1 more source

Prenatal Diagnosis of a Rare Type of Conjoined Twin, Cephalothoracoomphalopagus: A Case Report

Bagcilar Medical Bulletin, 2021
Conjoined twins are a rare outcome of a monoamniotic and monochorionic gestation. We present a case of cephalothoracoomphalopagus conjoined twin diagnosed by prenatal ultrasonographic examination. A 26-year-old gravida 2, para 1 woman was referred to our
Yasin Ceylan, Bertan Akar, İlteriş Yaman, Selim Akkaya   +3 more
doaj   +1 more source

Reducing Exposure Before Birth: An Interrupted Time Series Study of Prenatal Exposure to Fetotoxic Medications Under Risk Management Plans in Canada

Clinical Pharmacology &Therapeutics, EarlyView.
Canada's 2009 risk management plan (RMP) framework has not been evaluated for prenatal exposure impact. Conversely, widely used drugs such as nonsteroidal anti‐inflammatory drugs (NSAIDs) lack RMPs. We assessed first‐trimester exposure to RMP‐regulated medications following regulatory interventions and to NSAIDs following safety publications.
Nahiyan Saiyara Khan, Odile Sheehy, Lisiane Freitas Leal, Vanina Tchuente, Anick Bérard   +4 more
wiley   +1 more source