Results 111 to 120 of about 11,372,038 (312)

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

Birth weight and premature ovarian insufficiency: a systematic review and meta-analysis

Journal of Ovarian Research
Objective To comprehensively evaluate the effect of low birth weight on premature ovarian insufficiency. Methods We performed a systematic review of the literature by searching MEDLINE, EMBASE, Web of Science, Scopus, Wanfang and CNKI up to August 2023 ...
Chengyang Jiang, Tongqing Gao, Yuwei Wang, Wenqiang Yang, Huan Huang, Yushan Li, Xinghai Yang   +6 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Evaluation of the Relative Frequency of Attention Deficit Hyperactivity Disorder (ADHD) in 6-Year-Old Children with Low Birth Weight in Yazd

Bihdād, 2019
Introduction: ADHD (attention deficit hyperactivity disorder) is a neuro-behavioral syndrome that is characterized by a lack of attention, irritability, high activity, distressed behaviors, especially in boys.
Mohmmmad Golshan Tafti, Fatemeh Dehshiri
doaj  

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

Maternal smoking during pregnancy and early child outcomes [PDF]

, 2007
We estimate the harm from smoking during pregnancy upon child birth outcomes, using a rich dataset on a cohort of mothers and their births. We exploit a fixed effects approach to disentangle the correlation between smoking and birth weight from the ...
Tominey, E.
core  

Investigation of the factors related to low birth weight in the south of Iran: a case-control study

مجله علمی دانشگاه علوم پزشکی کردستان, 2018
Background and Aim: Since birth weight is one of the most important health indicators, we decided to investigate the factors related to the low birth weight (LBW) of the infants in the south of Kerman Province.
Afsaneh Rajizadeh, Shoeib Samimi, Mohsen Momeni   +2 more
doaj  

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

Teen Smoking and Birth Outcomes [PDF]

In the U.S. teen mothers are more likely to give birth to low birth weight babies than non-teen mothers. There is also substantial evidence that smoking is a risk factor correlated with low birth weight.
Erdal Tekin, Sally Wallace, MaryBeth Walker   +2 more
core  

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source