Results 61 to 70 of about 33,458 (300)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS. [PDF]

, 2019
ObjectiveOnset of multiple sclerosis (MS) occurs in childhood for approximately 5% of cases (pediatric MS, or ped-MS). Epigenetic influences are strongly implicated in MS pathogenesis in adults, including the contribution from microRNAs (miRNAs), small ...
Aaen, Gregory, Barcellos, Lisa F, Belman, Anita, Benson, Leslie, Caillier, Stacy, Candee, Meghan S, Casper, T Charles, Chitnis, Tanuja, Gorman, Mark, Graves, Jennifer S, Greenberg, Benjamin M, Harris, Yolanda, Hart, Janace, Kahn, Ilana, Krupp, Lauren, Lotze, Timothy, Mar, Soe, Ness, Jayne, Quach, Diana, Quach, Hong, Rhead, Brooke, Rodriguez, Moses, Rose, John, Rubin, Jennifer, Schaefer, Catherine, Schreiner, Teri, Shao, Xiaorong, Tillema, Jan M, US Network of Pediatric MS Centers, Waldman, Amy T, Waubant, Emmanuelle, Weinstock-Guttman, Bianca   +31 more
core   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Human amnion epithelial cell therapy reduces hypertension-induced vascular stiffening and cognitive impairment

Scientific Reports
Vascular inflammation and fibrosis are hallmarks of hypertension and contribute to the development of cardiovascular disease and cognitive impairment.
Quynh Nhu Dinh, Cecilia Lo, David Wong Zhang, Vivian Tran, Tayla Gibson-Hughes, Ashleigh Sheriff, Henry Diep, Hyun Ah Kim, Shenpeng R. Zhang, Liz J. Barreto-Arce, Maria Jelinic, Antony Vinh, Thiruma V. Arumugam, Siow Teng Chan, Rebecca Lim, Grant R. Drummond, Christopher G. Sobey, T. Michael De Silva   +17 more
doaj   +1 more source

Halofuginone- and Chitosan-Coated Amnion Membranes Demonstrate Improved Abdominal Adhesion Prevention

The Scientific World Journal, 2010
Our objective was to determine whether coating the amniotic membrane with halofuginone, a type 1 collagen synthase inhibitor, with or without the hemostasis-inducing substance chitosan, reduced the number and severity of adhesions in the rat uterine horn
Scott Washburn, Jamie L. Jennell, Steve J. Hodges   +2 more
doaj   +1 more source

Placental-mediated increased cytokine response to lipopolysaccharides: a potential mechanism for enhanced inflammation susceptibility of the preterm fetus. [PDF]

, 2012
BackgroundCerebral palsy is a nonprogressive motor impairment syndrome that has no effective cure. The etiology of most cases of cerebral palsy remains unknown; however, recent epidemiologic data have demonstrated an association between fetal neurologic ...
Belkacemi, Louiza, Beloosesky, Ron, Boles, Julie L, Desai, Mina, Ross, Michael G   +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

A Systematic Review of Human Amnion Enhanced Cartilage Regeneration in Full-Thickness Cartilage Defects

Biomimetics
Cartilage defects present a significant challenge in orthopedic medicine, often leading to pain and functional impairment. To address this, human amnion, a naturally derived biomaterial, has gained attention for its potential in enhancing cartilage ...
Nur Farah Anis Abd Halim, Atiqah Ab Aziz, Sik-Loo Tan, Veenesh Selvaratnam, Tunku Kamarul   +4 more
doaj   +1 more source

In vitro secretion profiles of interleukin (IL)-1beta, IL-6, IL-8, IL-10, and TNF alpha after selective infection with Escherichia coli in human fetal membranes [PDF]

, 2007
Background Chorioamniotic membranes infection is a pathologic condition in which an abnormal secretion of proinflammatory cytokines halts fetal immune tolerance. The aim of the present study was to evaluate the functional response of human chorioamniotic
Veronica Zaga-Clavellina, Guadalupe Garcia-Lopez, Hector Flores-Herrera, Aurora Espejel-Nunez, Arturo Flores-Pliego, Diana Soriano-Becerril, Rolando Maida-Claros, Horacio Merchant-Larios, Felipe Vadillo-Ortega   +8 more
core   +2 more sources

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

Animal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu, Jiaqi Chen, Zhonghui Li, Jiamin Zhou, Hui Zhang, Yujia Yu, Feng Cheng, Jie Bao, Chunhan Feng, Xiangqu Yu, Zhao Xia, Rao Ding, Xiang Li   +12 more
wiley   +1 more source