Results 121 to 130 of about 3,022,656 (326)

Biomarkers for congenital ventricular outflow tract malformations based on maternal serum lipid metabolomics analysis

BMC Pregnancy and Childbirth
Background The congenital ventricular outflow tract malformations (CVOTMs) is a major congenital heart diseases (CHDs) subtype, and its pathogenesis is complex and unclear.
Xuelian Yuan, Hong Kang, Yuqin Qin, Haibo Li, Lu Li, Yuting Li, Meixian Wang, Nana Li, Ying Deng, Xiaohong Li, Ping Yu, Yanping Wang, Zhen Liu   +12 more
doaj   +1 more source

Positron annihilation lifetime spectroscopy study of roller burnished magnesium alloy

Nukleonika, 2015
The effect of roller burnishing on Vickers’ hardness and positron lifetimes in the AZ91HP magnesium alloy was studied. The microhardness increases with an increase in the burnishing force and with a decrease in the feed. The comparison of various methods
Zaleski Radosław, Zaleski Kazimierz, Gorgol Marek   +2 more
doaj   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Descriptive epidemiology of gastroschisis in China from 2007 to 2020: a nationwide surveillance-based study

BMC Pediatrics
Background Gastroschisis is a common abdominal wall defect that increases infant mortality risk and health care costs. However, recent epidemiological data on gastroschisis in China is limited.
Yuyang Gao, Wenli Xu, Wenyan Li, Zhiyu Chen, Qi Li, Zhen Liu, Hanmin Liu, Li Dai   +7 more
doaj   +1 more source

Current research status of third-generation sequencing technology in thalassemia detection

Frontiers in Pediatrics
Thalassemia is a hereditary hemolytic disorder primarily caused by defects in the hemoglobin genes, which impede the synthesis of hemoglobin peptide chains. This disease is mainly classified into two types: α and β.
Fenglin Zhu, Fenglin Zhu, Yunli Lai, Sheng He   +3 more
doaj   +1 more source

Aortic reoperation in adults with corrected Conotruncal defects [PDF]

, 2015
Marco Larobina, Niamh Keenan, Rochelle Wynne, Dominica Zentner, P. Naidu, William Wilson, Lone Balding, Leeanne Grigg, Peter Skillington   +8 more
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Cumulative defect

Theoretical Computer Science, 2003
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
openaire   +2 more sources