Results 91 to 100 of about 1,008,936 (253)

Maternal mortality in Goiás: Causes of maternal death and barriers to underreporting.

PLOS Global Public Health
The objective of this study is to describe the causes of maternal deaths and estimate the magnitude of maternal mortality in the state of Goiás, considering the underreporting of maternal deaths from 2016 to 2021.
Emily Nayana Nasmar de Melo, Otaliba Libânio de Morais Neto, Ana Maria Nogales Vasconcelos   +2 more
doaj   +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

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

Inadequate programming, insufficient communication and non-compliance with the basic principles of maternal death audits in health districts in Burkina Faso: a qualitative study

Reproductive Health, 2017
Background Implementation of quality maternal death audits requires good programming, good communication and compliance with core principles. Studies on compliance with core principles in the conduct of maternal death audits (MDAs) exist but were ...
Boukaré Congo, Djénéba Sanon, Tieba Millogo, Charlemagne Marie Ouedraogo, Wambi Maurice E. Yaméogo, Ziemlé Clement Meda, Seni Kouanda   +6 more
doaj   +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

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

Audit of Early and Late Maternal Deaths in Georgia: Potential for Improving Substandard Obstetric Care

International Journal of Women's Health, 2021
Nino Berdzuli,1 Nino Lomia,1 Anne Cathrine Staff,1,2 Gunta Lazdane,3 Ekaterine Pestvenidze,1 Anne Flem Jacobsen1,2 1Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; 2Division of Obstetrics and Gynaecology, Oslo ...
Berdzuli N, Lomia N, Staff AC, Lazdane G, Pestvenidze E, Jacobsen AF   +5 more
doaj  

The impact of fertility changes on maternal mortality [PDF]

As less developed countries experience lower fertility, the age/parity distribution of pregnancies may shift. While these shifts may affect maternal mortality levels, their exact impact remains largely unknown. The aim of this thesis is to quantify the
Huang, Wei
core   +1 more source

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