Results 151 to 160 of about 258,128 (359)

Isolated Growth Hormone Deficiency

Endocrines
Growth hormone deficiency (GHD) is the most frequent pituitary hormone deficiency in childhood, with an incidence of 1 in 4000–10,000 live births. GHD can be congenital (genetic or due to hypothalamic/pituitary abnormalities) or acquired and can be ...
Anastasia Ibba, Chiara Guzzetti, Lavinia Sanfilippo, Sandro Loche   +3 more
doaj   +1 more source

Identifying Myeloid‐Derived Suppressor Cells and Lipocalin‐2 as Therapeutic Targets for Intervertebral Disc Degeneration

Advanced Science, EarlyView.
Inflammatory dysregulation drives intervertebral disc degeneration via stage‐dependent immune cellular dynamics. Single‐cell transcriptomics and genetic risk mapping revealed a shift from LCN2high myeloid‐derived suppressor cells maintaining disc repair in early stages to IL1B+ macrophage‐dominated pathology in advanced disease.
Changmeng Zhang, Haoyun Li, Hongfei Wang, Liangyu Shi, Ying Shing Chan, Yu Wang, Graham Ka Hon Shea   +6 more
wiley   +1 more source

Immunoradiometric and Luminescence Immunoenzymometric Assay of Human Thyrotropin from Dried Blood Spots for Screening of Neonatal Hypothyroidism [PDF]

, 1996
V Jirkalová, Cáp J, Hana Straková, Jaroslava Pribyšová, J. Plicka, R Lomský   +5 more
openalex   +1 more source

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

Advanced Science, EarlyView.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold   +8 more
wiley   +1 more source

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

Orphanet Journal of Rare Diseases
Background Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year SMA NBS program in Taiwan.
Chen-Hua Wang, Ting-Rong Hsu, Mei-Ying Liu, Li-Yun Wang, I-Jun Chou, Wang-Tso Lee, Wen-Chen Liang, Inn-Chi Lee, Hsiao-Jan Chen, Shu-Min Kao, Hui-Chen Ho, Dau-Ming Niu, Kwang-Jen Hsiao, Ming-Yuh Chang, Hui-Min Hsieh, Yuh-Jyh Jong   +15 more
doaj   +1 more source

A survey to evaluate parental consent as public policy for neonatal screening.

, 1982
Ruth Faden, A J Chwalow, Neil A. Holtzman, Samantha Horn   +3 more
openalex   +1 more source

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies [PDF]

, 1995
Rana Ziadeh, Eric P. Hoffman, David N. Finegold, Rita C. Hoop, J C Brackett, Arnold W. Strauss, Edwin W. Naylor   +6 more
openalex   +1 more source

Gut Metabolite Indole‐3‐Propionic Acid Regulates Macrophage Autophagy Through PPT1 Inhibiting Aging‐Related Myocardial Fibrosis

Advanced Science, EarlyView.
IPA is an intestinal tryptophan metabolite whose effects decline with decreased heart function. Supplementing IPA can alleviate the aging‐related myocardial fibrosis through PPT1. PPT1 is a key protein localized to lysosomes, and IPA can restore macrophage autophagy function by regulating PPT1 expresssions, thereby reducing aging‐related myocardial ...
Jing Lu, Hongyan Wang, Haiyu Zhang, Jiahao Li, Hanqi Li, Qiuyu Chen, Dongyu Han, Jialiang Liu, Lin Lv, Jie Xiong, Keying Yuan, Xianpeng Wei, Siqi Sheng, Fukai Liu, Yuanqi Shi, Zengxiang Dong, Yue Li   +16 more
wiley   +1 more source

Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific Gene in Neonatal Screening for Congenital Adrenal Hyperplasia¹ [PDF]

, 1999
J Fitness, Naznin Dixit, Dianne Webster, Toni Torresani, Robert G. Pergolizzi, Phyllis Speiser, Darren J. Day   +6 more
openalex   +1 more source

Opioid Exposed Mothers and Infants in Delaware: Clinical and Legal Considerations [PDF]

, 2016
Drug use is on the rise in Delaware, as demonstrated by the continued increase in infants born with neonatal abstinence syndrome. Thoughful, evidence based, and coordinated approaches are necessary to impact this problem.
Paul, MD, David A., Savin, MSN, NNP-BC, Michele K.   +1 more
core   +1 more source