Results 11 to 20 of about 291,310 (259)

Malnourished and surviving in South Asia, better nourished and dying young in Africa: What can explain this puzzle? [PDF]

, 2000
This paper examines the factors explaining the very different relationship between anthropometric shortfall and child mortality in South Asia and Sub Saharan Africa.
Klasen, S.
core   +1 more source

Eosinophilia in Very Low Birth Weight Infants

Pediatrics & Neonatology, 2010
Eosinophilia is common in premature infants, though its clinical significance remains unknown. This study investigated the pattern of eosinophilia and related factors in very low birth-weight (VLBW) infants.The medical records of VLBW infants (birth body weight < 1500 g) admitted to the neonatal intensive care unit of a tertiary care center of Cheng ...
Jui-Mei Yen, Chyi-Her Lin, Mei-Mei Yang, Shih-Ting Hou, Ai-Hsi Lin, Yuh-Jyh Lin   +5 more
openaire   +3 more sources

Hyponatraemia in very low birth weight infants

East African Medical Journal, 2002
Infants less than 1500 grams at birth have been demonstrated to be particularly prone to development of low levels of serum sodium often leading to increased early neonatal morbidity and mortality. No local study has been done to quantify this problem among sick newborns.
Ndwiga, D N, Were, F N, Musoke, R N
openaire   +4 more sources

Birth outcomes for African and Caribbean babies in England and Wales: retrospective analysis of routinely collected data [PDF]

, 2012
Objectives: To compare mean birth weights, gestational ages and odds of preterm birth and low birth weight of live singleton babies of black African or Caribbean ethnicity born in 2005 or 2006 by mother's country of birth.
Datta-Nemdharry, P., Dattani, N., Macfarlane, A. J.   +2 more
core   +2 more sources

Cerebellar growth in very low birth weight infants [PDF]

Journal of Perinatology, 2011
The aim of this study was to assess cerebellar growth of very low birth weight infants from birth to discharge and compare it with term infants.Very low birth weight infants were matched by gender, adequacy of weight to gestational age at birth and postmenstrual ages at hospital discharge to term newborns. Exclusion criteria were central nervous system
E, Jaeger, R C, Silveira, R S, Procianoy
openaire   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

DNA methylation and socioeconomic status in a Mexican-American birth cohort. [PDF]

, 2018
Background: Maternal social environmental stressors during pregnancy are associated with adverse birth and child developmental outcomes, and epigenetics has been proposed as a possible mechanism for such relationships.
Coker, Eric, Eskenazi, Brenda, Gunier, Robert, HOLLAND, Nina, Huen, Karen   +4 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source