Results 11 to 20 of about 46,816 (321)

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Analysis of serum metabolism in premature infants before and after feeding using GC–MS and the relationship with necrotizing enterocolitis

Biomedical Chromatography, Volume 37, Issue 1, January 2023., 2023
Abstract Preterm birth and enteral feeding are two main factors leading to necrotizing enterocolitis (NEC). The metabolomics of preterm infants before and after feeding can provide a basis for the prediction of NEC. Using the method of cross‐sectional study, the mode was established with the serum samples of 19 premature infants at birth and after ...
Fusheng Wang, Guanghuan Wang, Weizhong Li, Chenbin Xu, Zailin Zeng, Yongcui Zhou   +5 more
wiley   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou   +15 more
wiley   +1 more source

The Use of Probiotics in Preterm Infants [PDF]

Neonatal Medicine, 2022
Probiotics are live microorganisms that positively affect host health by altering the composition of the host microbiota. Gastrointestinal dysbiosis refers to adverse alterations of the intestinal flora and is associated with several diseases, including ...
Hye Won Park
doaj   +1 more source

Histopathological liver steatosis linked with high parenteral glucose and amino acid supply in infants with short bowel syndrome

Journal of Parenteral and Enteral Nutrition, Volume 47, Issue 1, Page 41-50, January 2023., 2023
Abstract Background: Steatosis is a common feature of intestinal failure–associated liver disease (IFALD) in adult and older pediatric patients receiving long‐term parenteral nutrition (PN). There are limited clinical data concerning steatosis in infants with short bowel syndrome (SBS).
Riikka Gunnar, Annika Mutanen, Laura Merras‐Salmio, Mikko P. Pakarinen   +3 more
wiley   +1 more source

Entero-colonic Fistula Secondary to Necrotizing Enterocolitis in Premature Infant: A Case Report [PDF]

Neonatal Medicine, 2023
Necrotizing enterocolitis is a severe inflammatory disease of the intestine and is the main cause of death in infants, mostly occurring in premature infants. Intestinal obstruction may occur during the medical treatment of necrotizing enterocolitis.
Soung Hee Kim
doaj   +1 more source

Nonlinear simulation of vascular tumor growth with chemotaxis and the control of necrosis [PDF]

Journal of Computational Physics Volume 459, 15 June 2022, 111153, 2021
In this paper, we develop a sharp interface tumor growth model in two dimensions to study the effect of both the intratumoral structure using a controlled necrotic core and the extratumoral nutrient supply from vasculature on tumor morphology. We first show that our model extends the benchmark results in the literature using linear stability analysis ...
arxiv   +1 more source

Transactivation of EGFR by LPS induces COX-2 expression in enterocytes [PDF]

, 2012
Necrotizing enterocolitis (NEC) is the leading cause of gastrointestinal morbidity and mortality in preterm infants. NEC is characterized by an exaggerated inflammatory response to bacterial flora leading to bowel necrosis.
A Grishin, AA Fanaroff, AA Maynard, Anatoly Grishin, AO Fagbemi, AV Grishin, B Dvorak, B Lugo, BB Warner, BJ Stoll, BK Reuter, CE Shin, CL Leaphart, Claus Schneider, CP Sodhi, D Hsu, D. Brent Polk, DH Chung, Henri Ford, JA Clark, Jeffrey Upperman, JL Koff, Jörn-Hendrik Weitkamp, M Fukata, M Fukata, M Petrosyan, MD Halpern, Michael J. Rosen, Michael Kallen, Nathalie Signoret, Noemi Tejera, O Morteau, P Chailler, PJ Miettinen, Poojitha Matta, PW Lin, RR Nair, S Cetin, SC Fitzgibbons, SC Gribar, SC Gribar, SO Guthrie, Steven J. McElroy, Stuart Hobbs, T Jilling, T Yamaoka   +45 more
core   +9 more sources

Family caregivers' experiences of caring for neonates undergoing enterostomy in China: A qualitative study

Nursing Open, Volume 10, Issue 2, Page 817-827, February 2023., 2023
Abstract Aim To describe the nursing experiences and care needs of family caregivers caring for neonates with enterostomies in China. Design A qualitative study. Methods We conducted semi‐structured interviews with family caregivers who care for neonates undergoing enterostomy.
Zhi Hong Ni, Sheng Ding, Jin Hua Wu, Fang Wang   +3 more
wiley   +1 more source

Nutrition in necrotizing enterocolitis and following intestinal resection [PDF]

, 2020
This review aims to discuss the role of nutrition and feeding practices in necrotizing enterocolitis (NEC), NEC prevention, and its complications, including surgical treatment.
Courtney, Cathleen M, Ou, Jocelyn, Steinberger, Allie E, Tecos, Maria E, Warner, Brad W   +4 more
core   +2 more sources