Results 31 to 40 of about 155,140 (314)

Postdischarge growth assessment in very low birth weight infants [PDF]

Korean Journal of Pediatrics, 2017
PurposeThe goal of nutritional support for very-low-birth-weight (VLBW) infants from birth to term is to match the in utero growth rates; however, this is rarely achieved.MethodsWe evaluated postdischarge growth patterns and growth failure in 81 Korean ...
Joon-Sik Park, Jungho Han, Jeong Eun Shin, Soon Min Lee, Ho Seon Eun, Min-Soo Park, Kook-In Park, Ran Namgung   +7 more
doaj   +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

Infant mortality in a very low birth weight cohort from a public hospital in Rio de Janeiro, RJ, Brazil

Revista Brasileira de Saúde Materno Infantil, 2013
OBJECTIVES: to evaluate infant mortality in very low birth weight newborns from a public hospital in Rio de Janeiro, Brazil (2002-2006). METHODS: a retrospective cohort study was performed using the probabilistic linkage method to identify infant ...
Regina Coeli Azeredo Cardoso, Patrícia Viana Guimarães Flores, Cláudia Lima Vieira, Kátia Vergetti Bloch, Rejane Sobrino Pinheiro, Sandra Costa Fonseca, Claudia Medina Coeli   +6 more
doaj   +1 more source

Low birth weight, later renal function, and the roles of adulthood blood pressure, diabetes, and obesity in a British birth cohort. [PDF]

, 2013
Low birth weight has been shown to be associated with later renal function, but it is unclear to what extent this is explained by other established kidney disease risk factors.
Silverwood, R.J., Hardy, R, Sattar, N, Sattar, N., Silverwood, Richard J, Pierce, M, Ferro, Charles, Kuh, D., Nitsch, D, Kuh, Diana, Savage, C., Whincup, Peter, Ferro, C., Hardy, R., Savage, Caroline, Pierce, M., Silverwood, Richard J., Hardy, Rebecca, Sattar, Naveed, Whincup, P., Whincup, P, Kuh, D, Silverwood, RJ, Ferro, C, Nitsch, Dorothea, Nitsch, D., Savage, C, Pierce, Mary   +27 more
core   +1 more source

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

Maternal socioeconomic status and infant mortality with low birth weight as a mediator: an inter-country comparison between Scotland and Denmark using administrative data

International Journal of Population Data Science, 2017
Objectives Higher rates of infant mortality in the UK than in the Nordic countries are partly explained by wider socio-economic disparities in the UK. We examined the extent to which low birth weight mediates the association between socioeconomic status (
Yongfu Yu, Maximiliane Verfuerden, Pia Hardelid, Ania Zylbersztejn, Zeyan Liew, Jørn Olsen, Ruth Gilbert, Jiong Li, Bo Fu   +8 more
doaj   +1 more source

Can mothers judge the size of their newborn? Assessing the determinants of a mother's perception of a baby's size at birth [PDF]

, 2011
Birth weight is known to be closely related to child health, although as many infants in developing countries are not weighed at birth and thus will not have a recorded birth weight it is difficult to use birth weight when analysing child illness.
Channon, Andrew, ANDREW A. R. CHANNON
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

The effects of socioeconomic status and indices of physical environment on reduced birth weight and preterm births in Eastern Massachusetts [PDF]

, 2008
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work
Schwartz Joel, Schwartz, Joel, Schwartz, J, Zeka, A, Steve J Melly, Melly, SJ, Melly Steve J, Zeka Ariana, Zeka, Ariana, Joel Schwartz, Melly, Steven, Ariana Zeka   +11 more
core   +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