Results 51 to 60 of about 2,123,633 (258)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

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

Maternal mortality ratios in low- and middle-income countries: a comparison of estimation methods and relationships with sociodemographic covariatesAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Maternal mortality is most prevalent in low- and middle-income countries, especially those from sub-Saharan Africa and South Asia. The Sustainable Development Goal 3.1 aims to reduce global maternal mortality by 2030 to
Biraj Sharma, MBBS, MPH, Roger Smith, MBBS, PhD, Binod Bindu Sharma, PhD, Craig Pennell, MBBS, PhD   +3 more
doaj   +1 more source

Pro-poor policies and improvements in maternal health outcomes in India

BMC Pregnancy and Childbirth, 2021
Background Since 2005, India has experienced an impressive 77% reduction in maternal mortality compared to the global average of 43%. What explains this impressive performance in terms of reduction in maternal mortality and improvement in maternal health
M. Bhatia, L. K. Dwivedi, K. Banerjee, A. Bansal, M. Ranjan, P. Dixit   +5 more
doaj   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Desa SIAGA, a community participation model for maternal and neonatal health in Indonesia, barriers and facilitators to implementation: findings from a comparative case study design

BMC Pregnancy and Childbirth
Background ‘Desa SIAGA’ (alert village) is a community participation model (CPM) aiming to improve maternal and neonatal health (MNH) outcomes by empowering communities to prepare women for safe birth in Indonesia.
Vinami Yulian, Linda McGowan, Tomasina Stacey   +2 more
doaj   +1 more source

Report from nine maternal mortality review committees [PDF]

Approximately 700 women across the United States (U.S.) die each year as a result of pregnancy or pregnancy-related complications. Non-Hispanic black women experience maternal deaths at a rate three to four times that of non-Hispanic white women, a ...

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Centrum Semiovale Perivascular Spaces Predict First Hemorrhagic Lesion in Asymptomatic Amyloid‐Positive Individuals

Annals of Neurology, EarlyView.
Objective Identification of cerebral amyloid angiopathy (CAA) before its hemorrhagic manifestations remains limited. We aimed to determine whether severe enlarged perivascular spaces in the centrum semiovale (EPVS‐CSO) identify a prehemorrhagic stage of sporadic CAA by predicting the first appearance of CAA‐related hemorrhagic lesions or incident ...
Baris Alten, Elif Gokcal, Reisa A. Sperling, Zahra Shirzadi, Jasmeer P. Chhatwal, M. Edip Gurol, Scott E. Kasner, Steven M. Greenberg, Brett L. Cucchiara   +8 more
wiley   +1 more source