Results 231 to 240 of about 1,636,764 (314)

Recurrence rate of malaria and associated factors in infants born to mothers who received either IPTp-SP or IPTp-DP in Busia, Uganda; a Secondary Conditional Frailty Model analysis.

Ikoona E, Yeka A, Natuhamya C, Munyole S, Agweng F, Mubiri P, Tumuhamye J, Ssenkusu J.   +7 more
europepmc   +1 more source

Measures of Brain Metabolism and Diffusion in Neonates of Mothers with Diabetes. [PDF]

AJNR Am J Neuroradiol
Hui SCN, Elsaid NMH, Ngwa JS, Kapse K, Limperopoulos C, Andescavage N.   +5 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

"If they were telling us to go, we will go": factors associated with effective postnatal care coverage before and after discharge - a mixed-methods study in rural western Kenya. [PDF]

BMJ Glob Health
Kim S, Wamuti B, Opondo K, Croke K, Kruk ME.   +4 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Increase days between maternal death at Dessie Comprehensive Specialized Hospital, Amhara region, Ethiopia. [PDF]

BMJ Open Qual
Alene AA, Zegeye DT, Kefale AB, Bogale AS, Mohamed E, Asfaw AM, Eshete HA, Amare AA, Alemu H, Meshesha AD, Mengstie TG, Abebe AG, Ali A, Fentaw H, Kiflie A.   +14 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Positive parenting and posttraumatic growth in mothers of children with autism spectrum disorder in Türkiye. [PDF]

BMC Pediatr
Alimoğlu EB, Sezer Efe Y, Caner N, Demirci E, Evgin D.   +4 more
europepmc   +1 more source

Dabigatran Concentrations in an Actively Breastfeeding Mother–Infant Dyad: Extending the Evidence for Oral Thromboprophylaxis Postpartum

American Journal of Hematology, EarlyView.
Rasmus W. Green, Aljona Saleh, Pawel Baranczewski   +2 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source