Results 11 to 20 of about 50,812 (278)

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

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

Screening of undernutrition in children with Hirschsprung disease using preoperative anthropometric parameters: A multicenter cross‐sectional study

Journal of Parenteral and Enteral Nutrition, Volume 47, Issue 1, Page 151-158, January 2023., 2023
Abstract Background The prevalence of malnutrition is unknown in patients with Hirschsprung disease. Undernutrition is associated with poor clinical outcomes. This study aims to describe the nutrition status among patients with Hirschsprung disease at admission.
Di Wang, Tianqi Zhu, Liye Zhu, Chunyi Ji, Bingyan Zhou, Guofeng Zhang, Qiang Yin, Heying Yang, Jiexiong Feng   +8 more
wiley   +1 more source

Necrotizing Enterocolitis [PDF]

New England Journal of Medicine, 2011
William O.
Tarnow-Mordi, W., Wilkinson, D., Trivedi, A.   +2 more
openaire   +6 more sources

Yersinia Enterocolitis May Mimic Appendicitis: 12 Years of Experience in a Single Tertiary Center

GE: Portuguese Journal of Gastroenterology, 2020
Introduction: Yersinia enterocolitica infection is a zoonotic disease that varies from self-limited gastroenteritis to more severe forms. Its propensity to affect the terminal ileum and to spread to regional lymph nodes explains the potential ...
Sara Fernandes, Sofia Vasconcelos-Castro, Cláudia Teixeira, Miguel Soares-Oliveira   +3 more
doaj   +1 more source

Enterocolitis Is a Risk Factor for Bowel Perforation in Neonates With Hirschsprung's Disease: A Retrospective Multicenter Study

Frontiers in Pediatrics, 2022
Background and AimWe evaluated the clinical features of neonatal Hirschsprung's disease (HD)-associated bowel perforation (perforated HD) and investigated risk factors related to it.MethodsWe retrospectively collected clinical data of neonates (<1 ...
Tianqi Zhu, Tianqi Zhu, Guofeng Zhang, Xinyao Meng, Xinyao Meng, Jixin Yang, Jixin Yang, Yonghua Niu, Yonghua Niu, Ying He, Ying He, Heying Yang, Xiaofeng Xiong, Jiexiong Feng, Jiexiong Feng   +14 more
doaj   +1 more source

Enteral lactoferrin supplementation for very preterm infants: a randomised placebo-controlled trial [PDF]

, 2019
Background Infections acquired in hospital are an important cause of morbidity and mortality in very preterm infants. Several small trials have suggested that supplementing the enteral diet of very preterm infants with lactoferrin, an antimicrobial ...
Ainsworth, S, Bartle, D, Batra, D, Baum, A, Berrington, J, Bowler, U, Boyle, E, Bradburn, M, Clarke, P, Cooke, R, Craig, S, Dorling, J, ELFINTI Grp, Ellis, S, Embleton, N, Ewer, A, Garg, S, Geethanath, R, Gibson, D, Gowda, G, Griffiths, J, Gupta, R, Halliday, H, Heath, P, Hellier, J, Holder, G, Hutchison, F, Janakiraman, S, Jenkins, P, Johnson, K, Johnson, M, Juszczak, E, Kennea, N, King, A, Kumar, Y, Ledwidge, M, Linsell, L, Mactier, H, Manjunatha, CM, Mannix, P, Matthes, J, McGuire, W, Millar, M, Murray, D, Oddie, S, Ohadike, P, Partlett, C, Patel, M, Peters, C, Piling, E, Quine, D, Reynolds, P, Roehr, C, Scorrer, T, Story, I, Subhedar, N, Vailcutz, R, Vargova, M, Vasu, V, Yates, H   +59 more
core   +2 more sources

Gut bacteria and necrotizing enterocolitis: cause or effect? [PDF]

, 2015
Development of necrotising enterocolitis (NEC) is considered to be dependent on the bacterial colonisation of the gut. With little concordance between published data and a recent study failing to detect a common strain in infants with NEC, more questions
Bloch, Sune, Friis, Morten, Friis-Hansen, Lennart Jan, Martin-Bertelsen, Tomas, Nielsen, Michelle C., Rye-Jørgensen, Niklas, Sørensen, Mads Sølvsten, Winther, Ole   +7 more
core   +3 more sources