Results 111 to 120 of about 147,877 (305)

Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population

Molecular Genetics & Genomic Medicine
Background Newborn screening (NBS) for isovaleric acidemia (IVA) is implemented via tandem mass spectrometry (MS/MS), but false‐positive results are still common.
Wei Zhou, Ting Huang, Huizhong Li, Maosheng Gu   +3 more
doaj   +1 more source

Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants

Molecular Genetics and Metabolism Reports
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism.
Huizhong Li, Fang Shao, Wei Zhou
doaj   +1 more source

CD4+ Tregs Drive Post‐Ischemic Sprouting Angiogenesis via Endothelial YY1/MAML1 Reactivation

Advanced Science, EarlyView.
ABSTRACT Microvascular complications of diabetes are chronic diseases of small vessels. We previously found that CD4+ regulatory T‐cells (Tregs) are markedly reduced in type 2 diabetes (T2D) after ischemic injury in both mice and humans, and that Treg deficiency in immunodeficient mice impairs vascular regeneration.
Hang Qu, Cheng Kiu Ho, Jitao Liu, Lei Cui, Yangfeng Hou, Cai Liang, Wenchu Ye, Randolph H. L. Wong, Shohei Hori, Bin Zhou, Kathy O. Lui   +10 more
wiley   +1 more source

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Orphanet Journal of Rare Diseases, 2022
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang   +6 more
doaj   +1 more source

Temporal trend in mortality due to congenital heart disease in China from 2008 to 2021

Chinese Medical Journal
. Background:. Congenital heart disease (CHD) is a leading cause of birth defect-related mortality. However, more recent CHD mortality data for China are lacking.
Youping Tian, Xiaojing Hu, Qing Gu, Miao Yang, Pin Jia, Xiaojing Ma, Xiaoling Ge, Quming Zhao, Fang Liu, Ming Ye, Weili Yan, Guoying Huang, Jing Ni   +12 more
doaj   +1 more source

Treatment for congenital toxoplasmosis: finding out what works

, 2009
Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Programa de triagem neonatal para hipotiroidismo congênito de Santa catarina: avaliação etiológica no primeiro atendimento. [PDF]

, 2009
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Rabello, Fernanda Hostim
core  

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

MEOX1 Coordinates Autocrine‐Paracrine Programs via SPHK1/S1P to Promote Lymph Node Metastasis in Ovarian Cancer

Advanced Science, EarlyView.
In ovarian cancer, MEOX1 activates the SPHK1/S1P pathway to promote both tumor progression and tumor–stroma crosstalk. MEOX1‐dependent signaling drives CAF activation, enhances VEGF‐C expression, and stimulates lymphangiogenesis, ultimately facilitating lymph node metastasis.
Jiajia Li, Xiuling Zhi, Qianhan Lin, Yating Sun, Yihua Sun, Zulimire Abudousalamu, Mengyang Xue, Chang Zheng, Xiaotian Li, Liangqing Yao, Mo Chen   +10 more
wiley   +1 more source