Results 91 to 100 of about 615,598 (259)

STUDY PROTOCOL: Improving newborn survival in rural southern Tanzania: a cluster-randomised trial to evaluate the impact of a scaleable package of interventions at community level with health system strengthening [PDF]

Child mortality has declined substantially in many countries including Tanzania, but newborn mortality remains high and around 3 million babies die every year in the first 28 days of life.
Marchant, T, Schellenberg, D, Cousens, S, Shamba, D, Borghi, J, Mkumbo, E, Hamisi, Y, Mshinda, H, Tanner, M, Hanson, C, Manzi, F, Penfold, S, Jaribu, J   +12 more
core   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Modelling of heat and mass transfer processes in neonatology [PDF]

, 2008
This paper reviews some of our recent applications of Computational Fluid Dynamics (CFD) to model heat and mass transfer problems in neonatology and investigates the major heat and mass transfer mechanisms taking place in medical devices such as ...
Ginalski, MK, Wrobel, LC, Nowak, AJ
core   +3 more sources

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

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Inequities in newborn screening: Race and the role of medicaid☆

SSM: Population Health, 2019
Newborn Screening (NBS) is a State-run program that mandates all newborns to be screened for a panel of medical conditions to reduce infant mortality and morbidity. Medicaid is a public health insurance program that expanded access to care for low-income
Heeju Sohn, Stefan Timmermans
doaj   +1 more source

The persistently patent arterial duct in the premature infant [PDF]

, 2001
The presence of a persistently patent arterial duct is common in premature neonates and may be associated with high morbidity. Early accurate diagnosis, assessment of the significance of the left to right shunt and prompt treatment are required to ...
Gardiner, Helena Maria, Azzopardi, D.V., Karatza, Ageliki A.   +2 more
core  

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Infant Mortality in the United States: Provisional Data From the 2023 Period Linked Birth/Infant Death File [PDF]

This report presents provisional 2023 data on infant mortality rates using the U.S. linked birth/infant death files. Infant mortality rates are shown by infant age at death, maternal race and Hispanic origin, maternal age, gestational age, sex of the ...

core