Results 201 to 210 of about 7,341,045 (287)

Knowledge of essential newborn care and neonatal danger signs amongst post-natal mothers in Dar es Salaam, Tanzania. [PDF]

J Public Health Afr, 2022
Msiba GH, Assenga EN, Ndossa A, Mchomvu F, Zuechner A.   +4 more
europepmc   +1 more source

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

Pathways of change for essential newborn care practices and health care seeking: a process evaluation of Mamás del Río, a community-based, maternal and neonatal health intervention in the Peruvian Amazon. [PDF]

Health Policy Plan
Reinders S, Blas MM, Alva A, Huicho L, Ronsmans C, Lange IL.   +5 more
europepmc   +1 more source

Essential newborn care practices for healthy newborns at a district hospital in Pemba, Tanzania: a cross-sectional observational study utilizing video recordings. [PDF]

Glob Health Action, 2022
Stensgaard CN, Bech CM, Holm-Hansen C, Skytte TB, Ali SM, Mohd UA, Kjærgaard J, Greisen G, Poulsen A, Lund S.   +9 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Facility level factors that determine consistent delivery of essential newborn care at health centers in Ethiopia. [PDF]

BMC Pregnancy Childbirth, 2022
Fekadu B, Ali I, Tafesse Z, Segni H.
europepmc   +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

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

The role of implementation climate in shaping early essential newborn care practice: Insights from a multi-center cross-sectional study in China. [PDF]

PLoS One
He H, Li J, Li J, Lu H, Lu J, Cao L, Gong L, Pang R, Zhu X.   +8 more
europepmc   +1 more source

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