Results 31 to 40 of about 147,877 (305)

Maternal and neonatal outcomes in women with preeclampsia screening program at primary healthcare centers in Indonesia [PDF]

, 2020
Preeclampsia can cause increased neonatal mortality and serious neonatal morbidity. This study aimed to analyze the result of the preeclampsia screening program to the maternal and neonatal outcome at primary healthcare centers.
Eka Dina, -, Agus Sulistyono, -, Aditiawarman, -, Hermanto Tri Joewono, -   +3 more
core  

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

Retinopathy of prematurity in English neonatal units: a national population-based analysis using NHS operational data.

, 2020
OBJECTIVES: To report on retinopathy of prematurity (ROP) screening compliance against a national guideline, factors associated with non-compliance and effect on ROP treatment.
Wong, HS, Watkinson, M, UK Neonatal Collaborative, , Modi, N, Statnikov, Y, Gray, D, Santhakumaran, S   +6 more
core   +1 more source

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation

Translational Psychiatry, 2023
Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or ...
Julie Courraud, Francesco Russo, Gonçalo Espregueira Themudo, Susan Svane Laursen, Andrés Ingason, David M. Hougaard, Arieh S. Cohen, Thomas Werge, Madeleine Ernst   +8 more
doaj   +1 more source

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey

, 2022
This study sought to assess the current state of screening for congenital cytomegalovirus infection in newborns among birth hospitals and newborn nurseries in the state of Massachusetts.
Colleran, Peter, Cohen, Michael S, Morris, Barbara, Stenerson, Matthew, Mango, Talia, Glovsky, Cheryl K, Luiselli, Tracy Evans, Kuhns-Rankin, Evelyn, Carroll, Kendall, Mullen, Charlotte, Clark, Naomi, Colleran, Vanessa, Gibson, Laura L, Gaffney, Shayne, Kenna, Margaret   +14 more
core   +1 more source

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source

Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Italian Journal of Pediatrics, 2022
Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the ...
Simonetta Simonetti, Gabriele D’Amato, Benedetta Esposito, Mariangela Chiarito, Domenico Dentico, Tania Lorè, Roberta Cardinali, Silvia Russo, Nicola Laforgia, Maria Felicia Faienza   +9 more
doaj   +1 more source

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

International Journal of Neonatal Screening, 2021
Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules ...
Sanne Grundvad Boelt, Lars Melgaard, Marta Jadwiga Thorbek, Nadia Sara Jensen MacSween, John J. McGrath, Arieh S. Cohen   +5 more
doaj   +1 more source

National performance indicators to support neonatal hearing screening in Australia [PDF]

, 2013
This paper presents a set of performance indicators for monitoring neonatal hearing screening activity in Australia at a national level, to help measure how well neonatal hearing screening is achieving its aims.SummaryEach year in Australia ...

core  

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source