Results 41 to 50 of about 30,159 (292)

Prenatal ultrasound and postmortem histologic evaluation of tooth germs: an observational, transversal study [PDF]

, 2015
Introduction: Hypodontia is the most frequent developmental anomaly of the orofacial complex, and its detection in prenatal ultrasound may indicate the presence of congenital malformations, genetic syndromes and chromosomal abnormalities.To date, only a ...
A Kapdan, AH Brook, Ana Cristina Braga, António Felino, AS Tucker, AT Altug-Atac, BJ Polder, BR Whittington, E Esenlik, E Matalova, Francisco Valente, G Townsend, H Kapadia, I Bailleul-Forestier, J Jernvall, JC Carvalho, M Tummers, Mariana Seabra, ML Jones, MR Ulm, MR Ulm, MR Ulm, MT Cobourne, MT Cobourne, N Chhabra, Paula Vaz, PF Kramer, PJ Coster De, Rosete Nogueira, T Yonezu, TA Mitsiadis, TE Magnusson, V Désilets, Y Chai   +33 more
core   +2 more sources

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Molecular Genetics & Genomic Medicine, 2023
Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene.
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen   +8 more
doaj   +1 more source

New Insights into Atonic Postpartum Hemorrhage: Animal Model Construction Based on Placental Nanodelivery Systems

Advanced Healthcare Materials, EarlyView.
This study develops a placenta‐targeted nanodelivery system co‐loading HMGB1 protein and the NLRP3 agonist nigericin to establish an animal model of atonic postpartum hemorrhage. The model accurately recapitulates clinical phenotypes, including prolonged labor and uterine contractility dysfunction, while revealing inflammatory activation in placental ...
Jiangxue Qu, Ruiqi Wu, Hai Jiang, Lian Chen, Yingying Tian, Shuai Zeng, Tongmin Liu, Cheng Zhao, Huifeng Shi, Xiaolong Liang, Yangyu Zhao   +10 more
wiley   +1 more source

Ultrasound in Women's Health: Mechanisms, Applications, and Emerging Opportunities

Advanced Materials, EarlyView.
As healthcare moves toward decentralization, ultrasound technologies are evolving from strictly imaging tools in clinical settings into versatile diagnostic and therapeutic platforms, with growing roles addressing women's health needs. This review highlights how ultrasound's underlying physical mechanisms can be harnessed to reduce disparities in women'
Sarah B. Ornellas, Bilal Kizilaslan, Aastha Shah, Jason F. Hou, Yoonsoo Shin, Alejandra Hernandez Moyers, Claudia Lozano, Canan Dagdeviren   +7 more
wiley   +1 more source

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

Taiwanese Journal of Obstetrics & Gynecology, 2008
Prenatal screening with α-fetoprotein (AFP) and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs) in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern ...
Chih-Ping Chen
doaj   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Dandy-Walker malformation: is the "tail sign" the key sign? [PDF]

, 2015
OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014 ...
Aliberti, C, Bernardo, Silvia, Giancotti, Antonella, Manganaro, Lucia, Porpora, Maria Grazia, Rizzo, G, Saldari, Matteo, Servadei, F, Silvestri, E, Triulzi, F, Vinci, Valeria   +10 more
core   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Necrotizing funisitis and calcification of umbilical vein: case report and review

BMC Pregnancy and Childbirth, 2021
Background Necrotising funisitis (NF) is a rare, chronic stage of funisitis, a severe inflammation of the umbilical cord and an important risk factor for fetal adverse outcomes.
Wendi Wang, Miao Zhang, Liyun Gong, Qingqing Wu   +3 more
doaj   +1 more source

Ultrassonografia tridimensional STIC-HDlive no modo de superfície: nova técnica para avaliação do coração fetal [PDF]

, 2013
Universidade Federal de São Paulo (UNIFESP) Department of ObstetricsUNIFESP, Department of ...
Araujo Júnior, Edward, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado   +2 more
core   +2 more sources