Results 41 to 50 of about 407,276 (293)

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

Novel inflammatory markers for predicting adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome: a retrospective case‒control study

BMC Pregnancy and Childbirth
Objective To investigate the potential predictive value of novel inflammatory markers for adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome (PCOS). Methods A retrospective case‒control study was conducted.
Na Pan, Jing Zhang, Ning Zhu, Mengting Liu, Shuying Yang, Zhanshuai Song, Haibo Song   +6 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

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Correlation between ocular residual astigmatism and anterior corneal astigmatism in children with low and moderate myopia

BMC Ophthalmology, 2022
Background To assess the correlation between ocular residual astigmatism and anterior corneal astigmatism in children with low and moderate myopia. Methods Refractive astigmatism was determined by subjective manifest refraction.
Jian Lin, Dexiang An, Yun Lu, Dongmei Yan   +3 more
doaj   +1 more source

Maternal and child health

Apollo Medicine, 2011
Late preterm infants, born at 34–36 (+6) weeks gestation, are physiologically more immature than term infants. As a consequence, they have an increased risk of morbidity and mortality. Late preterm were compared with term babies. This retrospective observational study found that the late preterm group was associated with assisted reproduction, twin ...
Piyush Chandel, Anjali Kulkarni
openaire   +1 more source

Contextual Factors of Posyandu on Cadre Performance in Providing Maternal and Child Health Service in Surakarta, Central Java [PDF]

, 2020
Background: Cadre performance is an indicator of the success of the Posyandu program in maternal and child health services. Individual and social factors can influence the performance of cadres in providing health services.
Dewi, Yulia Lanti Retno, Pangestuti, Restu, Sulaeman, Endang Sutisna   +2 more
core  

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

BMC Medical Genomics
Objective ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype.
Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin   +6 more
doaj   +1 more source

Ethnic disparity in pneumonia-specific mortality among children under 5 years of age in Sichuan Province of Western China from 2010 to 2017

BMC Public Health, 2019
Background To reveal the ethnic disparity in the pneumonia-specific mortality rates of children under the age of 5 years (PU5MRs) and provide suggestions regarding priority interventions to reduce preventable under-five-years-of-age deaths.
Min Luo, Ziling Zhao, Linkun He, Bingzhong Su, Weixin Liu, Gang Zhang   +5 more
doaj   +1 more source