Results 71 to 80 of about 92,659 (268)

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

A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography

BMC Pregnancy and Childbirth
Objective To investigate the prenatal ultrasonographic features of sirenomelia and perform classification, aiming to improve diagnostic accuracy during the early and mid-trimester.
Ting Pan, Qiong Lan, Tiangang Li, Yanzhao Wang, Pingan Qi, Jie Ran, Xueqin Jiang, Bin Ma   +7 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

Effects of gestational diabetes mellitus on the intestinal microbiota of the offspring

Scientific Reports
Gestational diabetes mellitus (GDM) significantly impacts maternal and neonatal health, yet its influence on the neonatal intestinal microbiota remains poorly characterized.
Ling Zhang, Xiao Tan, Zhiru Guo, Lixia Liang, Bin Yi, Xuhui Liu, Fei Li, Yunyun Wang, Yanxia Wang   +8 more
doaj   +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

Assessment of risk factors for pelvic organ prolapse using dynamic MRI combined with clinical data

Insights into Imaging
Objective To investigate the risk factors for pelvic organ prolapse (POP) using dynamic MRI in combination with clinical data. Materials and methods Postpartum women who visited between August 2023 and October 2024 were enrolled. Patients were classified
Linghong Qi, Cheng Qian, Jiami Liu, Zhenghua Fei, Yinjian Zhou, Zhi Li   +5 more
doaj   +1 more source

Cross-sectional associations of nighttime sleep and daytime nap duration with myopia in preschool children: the mediating role of body mass index

Frontiers in Medicine
ObjectiveTo investigate the associations of nighttime sleep and daytime nap duration with myopia in preschool children, and to examine the mediating role of body mass index (BMI).MethodsThis cross-sectional study included 695 children aged 3–7 years ...
Xiumei Chen, Dan Liu, Wei Du, Changhua Wu   +3 more
doaj   +1 more source

Effects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily   +5 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

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source