Results 31 to 40 of about 12,032,394 (349)

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

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

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Size at birth: an examination of meaning and usefulness. A prospective study of a cohort of infants born in Nepal [PDF]

, 2009
Background: Low birth weight (LBW) remains a major public health problem in developing countries, but is only one measure of size at birth. Others include small-for-gestational-age (SGA) and low ponderal index (PI).
Vaidya, A.
core  

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

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

A cohort study of psychological sequalae in low birth weight children from the Bishop Lavis Community Health Centre [PDF]

, 2007
Includes bibliographical references (leaves 77-90).The relationship between low birth weight, behavioural inhibition and psychopathology was investigated in 65 seven to nine year-olds and their caregivers who were attendees of a community clinic in a low-
Micklewood, Neil Ryan
core   +1 more source

Maternal serum albumin in the late trimester and birth weight: a cross-sectional study from Jiangxi, China.

PLoS ONE
BackgroundThe links of maternal serum albumin (ALB) concentration in the late trimester and infant birth weight remain equivocal. Accordingly, we focused on the investigation of the correlation of maternal serum albumin concentration and infant birth ...
Jun Xiong, Huan Li, Jian-Min Zhang, Shi-Qi Li, Chang Ge, Hui-Xin Zheng, Xiao-Qing Tan, Jia-Wei Zheng, Xiao-Ju He, Shu-Ying Zhu   +9 more
doaj   +1 more source

Follow-up evaluation of children with birth weight less than or equal to 2,000 g

São Paulo Medical Journal
CONTEXT: During the first year of life, the growth process is highly vulnerable to several impairing factors that need to be understood. OBJECTIVE: To perform follow-up evaluation on newborns weighing less than or equal to 2,000 g in a population of low ...
Marcia de Freitas, Arnaldo Siqueira, Conceição Aparecida de Mattos Segre   +2 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source