Results 61 to 70 of about 4,280,016 (306)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

A Complete Audit Cycle of the Recording of the Baby's and Their Siblings' Age, Date of Births and Due Dates of Pregnant Mothers During the Initial Assessment Process for Patients Presenting to a Community Perinatal Mental Health Services

BJPsych Open
Aims •To find out the proportion of patients for whom the dates of births of their children, age and their due date were recorded during their initial assessment as a means of reducing risks through safeguarding.
Chinenyenwa Eze, Emma Brotchie
doaj   +1 more source

Use of antenatal services and delivery care in Entebbe, Uganda: a community survey. [PDF]

, 2007
BACKGROUND: Disparities in perinatal health care occur worldwide. If the UN Millennium Development Goals in maternal and child health are to be met, this needs to be addressed.
Mabey, David, Morison, Linda, Heiner Grosskurth, Linda Morison, Kizza, Moses, Muwanga, Moses, Kizza, M, Muwanga, M, Moses Kizza, Tann, Carolyn J, Alison M Elliott, Grosskurth, H, Mabey, D, David Mabey, Carolyn J Tann, Elliott, Alison M, Morison, L, Elliott, AM, Grosskurth, Heiner, Tann, CJ, Moses Muwanga, Mabey David, Elliott Alison M, Morison Linda, Muwanga Moses, Tann Carolyn J, Kizza Moses, Grosskurth Heiner   +27 more
core   +2 more sources

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Analysis of Home Care Supports Funded by the HSE 2008–2016 [PDF]

, 2016
This paper seeks to summarise the situation of publicly funded home care over the period 2008- 2016. Of particular interest is the overall change to the level of resources being directed to home care in the 2016 HSE Service Plan, in particular the actual
Care Alliance Ireland
core  

Challenges of Perinatal Depression Care in Mexico City Health Centers

, 2022
Laura Navarrete,1,2 Ma Asunción Lara,1 Shoshana Berenzon,1 Jazmin Mora-Rios1 1Directorate of Epidemiological and Psychosocial Research, National Institute of Psychiatry “Ramón de la Fuente Muñiz”, Mexico City, Mexico; 2Doctorate Program in Medical ...
Lara MA, Navarrete L, Berenzon S, Mora-Rios J   +3 more
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Social class inequalities in perinatal outcomes: Scotland 1980–2000 [PDF]

, 2006
Objective: To examine social class inequalities in adverse perinatal events in Scotland between 1980 and 2000 and how these were influenced by other maternal risk factors.
Leyland, A.H., Fairley, Lesley, Fairley, L, Leyland, AH, Fairley, L.   +4 more
core   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

A secondary analysis of a prospective cohort study: association between aspirin regime and early- and late-onset preeclampsia

BMC Pregnancy and Childbirth
Background Preeclampsia (PE) poses a threat to maternal and perinatal health. Low-dose aspirin prophylaxis is recommended for women at high risk of developing PE.
Ye Yanqing, Deng Lingling, Wu Shaowen
doaj   +1 more source