Results 201 to 210 of about 557,287 (304)

Stillbirth and newborn data quality and use and related input and process factors: findings of the IMPULSE study in Ethiopia. [PDF]

J Glob Health
Fisseha D, Abathun F, Cora LG, Worku B, Belgu B, Girmay AM, Chimuna T, Solomon M, Abebe H, Mariani I, Ayele M, Rornald MK, Minja J, Mouhamadou O, Tognon F, Lawn JE, Putoto G, Shamba D, Waiswa P, Awell T, Lazzerini M.   +20 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Extracellular matrix remodeling upregulates hippocampal neurogenic niche stiffness and impairs neurogenesis in Alzheimer's disease. [PDF]

Alzheimers Dement
Sun W, Yang B, Zheng H, Wang Q, Shi Y, Wang G, Yin W, Wang H, Qi X, Yao Y, Wang J, Cui S, Cui K, Mao J, Xia Y, Deng J, Zhao S, Wang Z, Liu F, Yi M, Ding J, Le W, Li X, Yuan J, Wan Y, Zheng J.   +25 more
europepmc   +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

When the usual seems unusual: Rare cases of iron refractory anemia

Pediatric Hematology Oncology Journal
Mansi Narola, Shrishti Shrivastava
doaj   +1 more source

The Global Maternal and Newborn Health Platform: study protocol for an observational, multi-country study on the quality of intrapartum and early postnatal care at health facilities. [PDF]

BMC Public Health
Global Maternal and Newborn Health Platform – Asia-Pacific Research Group.
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Impact of a long-term mentorship program for childbirth providers on quality of care: A cluster randomized controlled trial. [PDF]

PLOS Glob Public Health
Zhang L, Vatsa R, Chang W, Akinyi S, Little S, Gakii C, Mungai J, Kahumbura C, Rajasekharan S, Wickramanayake A, McConnell M, Cohen J.   +11 more
europepmc   +1 more source

Basophilic Stippling Unmasks Pyrimidine 5′‐Nucleotidase Deficiency in a G6PD‐Deficient Patient

American Journal of Hematology, EarlyView.
Victor Bobée, Stéphane Moutereau, Maïssa Souissi, Pierre Lebreton, Loïc Garcon   +4 more
wiley   +1 more source