Results 41 to 50 of about 95,410 (219)

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Investigate the effects of donor breast milk and formula milk on metabolites in preterm infants through non-targeted metabolomics

BMC Nutrition
Background Preterm infants’ underdeveloped gastrointestinal and immune systems increase their risk of life-threatening complications like necrotizing enterocolitis (NEC).
Fei Yang, Yanfeng Zhao, Ying Zhang, Chunyu Zhang   +3 more
doaj   +1 more source

Severe neonatal air leak syndrome – Answer

Journal of Pediatric and Neonatal Individualized Medicine, 2019
Air leak syndromes include pulmonary inter­stitial emphysema, pneumomediastinum, pneumo­thorax, pneumopericardium, pneumo­peritoneum, subcutaneous emphysema and systemic air embolism.
Catarina Matos de Figueiredo, Jorge Abreu Ferreira, Ana Cristina Freitas, Ana Novo, Elisa Proença, Carmen Carvalho, Luísa Neiva Araújo   +6 more
doaj   +1 more source

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BMC Medical Genomics, 2021
Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants.
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen   +8 more
doaj   +1 more source

Soft, Multi‐Wavelength Photoplethysmography Enables Reliable Neonatal Blood Pressure Monitoring Via Error Stratification

Advanced Science, EarlyView.
A soft hybrid multi‐wavelength PPG wearable acquires neonatal signals. Synchronized PPG and invasive ABP data are segmented into fixed windows. A 1D‐EfficientNet model predicts segment‐level SBP and DBP. Model performance is examined with retrospective subgroup analysis across acquisition conditions.
Wenqi Shi, Lanlan Mi, Jiarong Chen, Biao Liu, Min Wang, Zisheng Dai, Bin Liu, Ruize Gao, Yunfeng Lin, Weiwei Guo, Guoxing Wang, Wenyi Luo, Cheng Chen   +12 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Severe neonatal air leak syndrome – Question

Journal of Pediatric and Neonatal Individualized Medicine, 2019
Female neonate born at 29+4 gestational weeks by spontaneous vaginal delivery to a 37-year-old mother, with adequate prenatal surveillance and an uneventful pregnancy.
Catarina Matos de Figueiredo, Jorge Abreu Ferreira, Ana Cristina Freitas, Ana Novo, Elisa Proença, Carmen Carvalho, Luísa Neiva Araújo   +6 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Peripheral perfusion index-reference range in healthy Portuguese term newborns

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Introduction: Peripheral perfusion index (PPI) is a non-invasive numerical value of peripheral perfusion derived from a pulse oximeter signal. It has been suggested that PPI may be a valuable adjunct diagnostic tool to detect early clinically significant
Joana Jardim, Ruben Rocha, Gorett Silva, Hercília Guimarães   +3 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source