Results 131 to 140 of about 178,068 (292)

Data of pre-and post-operative images and video of marsupialization of congenital vallecular cyst by coblation technique

Data in Brief, 2020
This data describes the modern surgical treatment of congenital vallecular cyst in a term newborn infant who developed neonatal stridor on day 1 of life.
Eric Ma, Krishna Revanna Gopagondanahalli, Jenica Su-ern Yong, Chua Mei Chien, Suresh Chandran   +4 more
doaj  

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy

Hepatology, EarlyView., 2022
Serum bile acid levels predict outcomes in patients with biliary atresia who achieve normalized bilirubin levels after Kasai portoenterostomy. Abstract Background and Aims In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP).
Sanjiv Harpavat, Kieran Hawthorne, Kenneth D. R. Setchell, Monica Narvaez Rivas, Lisa Henn, Charlotte A. Beil, Saul J. Karpen, Vicky L. Ng, Estella M. Alonso, Jorge A. Bezerra, Stephen L. Guthery, Simon Horslen, Kathy M. Loomes, Patrick McKiernan, John C. Magee, Robert M. Merion, Jean P. Molleston, Philip Rosenthal, Richard J. Thompson, Kasper S. Wang, Ronald J. Sokol, Benjamin L. Shneider, for Childhood Liver Disease Research Network (ChiLDReN)   +22 more
wiley   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

MODELLING AND CONTROL OF ARTERIAL OXYGEN SATURATION IN NEONATAL INFANTS

Diyala Journal of Engineering Sciences, 2015
This paper presents design a closed loop oxygen controller for the supplement oxygen to the newborn infant. The most problem for premature infants is respiratory distress syndrome (RDS), also called neonatal respiratory distress syndrome, or respiratory
Lafta Ismaeel Jumaa
doaj  

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

Does Newborn Care, Feeding Practices and Immunization Status Have an Effect on Anthropometric Measurements of Infants?

National Journal of Community Medicine, 2015
Introduction: Immediate proper care of newborn is vitally important for survival, growth and development of a baby. In the home, a number of simple strategies have been shown to prevent infant and childhood illness and malnutrition, including ...
Mili Mishra, Shraddha Dwivedi, M A Hassan, Khurshid Parveen, M A Khan   +4 more
doaj  

Towards Scalable Newborn Screening: Automated General Movement Assessment in Uncontrolled Settings [PDF]

arXiv
General movements (GMs) are spontaneous, coordinated body movements in infants that offer valuable insights into the developing nervous system. Assessed through the Prechtl GM Assessment (GMA), GMs are reliable predictors for neurodevelopmental disorders. However, GMA requires specifically trained clinicians, who are limited in number.
arxiv  

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Testing prosodic development with the Headturn Preference Procedure: A test‐retest reliability study

Infant and Child Development, Volume 31, Issue 6, November/December 2022., 2022
Abstract The Headturn Preference Procedure (HPP) is widely used in infant research. Previous studies have shown that speech perception measures obtained with HPP are related to later language skills which may make them a potential instrument for an early detection of developmental language risks. The present study assessed the reliability and stability
Mireia Marimon, Barbara Höhle
wiley   +1 more source