Results 271 to 280 of about 1,924,739 (391)

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

American Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares, Nicola Luigi Bragazzi, Gustavo F. Gonzales, Paul Robach, Benoit Champigneulle, Julien V. Brugniaux, Emeric Stauffer, Elie Nader, Stéphane Doutreleau, Philippe Connes, Samuel Verges, Aurélien Pichon   +11 more
wiley   +1 more source

Part 7: Neonatal Resuscitation

Pediatrics, 2015
J. Perlman, J. Wyllie, J. Kattwinkel, M. Wyckoff, K. Aziz, R. Guinsburg, H. Kim, H. Liley, L. Mildenhall, W. Simon, E. Szyld, M. Tamura, S. Velaphi   +12 more
semanticscholar   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Association of Neonatal Glycemia With Neurodevelopmental Outcomes at 4.5 Years

JAMA pediatrics, 2017
C. McKinlay, J. Alsweiler, Nicola S Anstice, Nataliia Burakevych, Arijit Chakraborty, Arijit Chakraborty, J. Chase, G. Gamble, D. Harris, R. Jacobs, Yannan Jiang, N. Paudel, Ryan J. San Diego, Benjamin Thompson, Benjamin Thompson, T. Wouldes, J. Harding   +16 more
semanticscholar   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Metformin use in gestational diabetes is not associated with an increased risk of preterm labor and small for gestational age infants compared to diet control alone. [PDF]

BMC Pregnancy Childbirth
D'Souza A, Abdullahi H, Badri F, Ibrahim I.   +3 more
europepmc   +1 more source

Neonatal tyrosinaemia: a follow-up study. [PDF]

, 1968
M. W. Partington, D Delahaye, R. E. Masotti, J. H. Read, B L Roberts   +4 more
openalex   +1 more source

Kangaroo Mother Care and Neonatal Outcomes: A Meta-analysis

Pediatrics, 2016
E. Boundy, R. Dastjerdi, D. Spiegelman, W. Fawzi, S. Missmer, E. Lieberman, S. Kajeepeta, S. Wall, G. Chan   +8 more
semanticscholar   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source