Results 301 to 310 of about 6,034,145 (367)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

User Perceptions of Behavioral Change Strategies in Diabetes Apps: Feedback From Online Support Groups. [PDF]

J Diabetes Sci Technol
Årsand E, Gabarron E, Randine P.
europepmc   +1 more source

An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu, Liping Liang, Lingchao Chen, Pengjie Hong, Wanzun Lin, Jiabing Liu, Zhirui Zhou, Wenjia Zhu, Tianqi Wu, Mingyuan Pan, Yihua Zhong, Jing Gao, Zhiyong Qin, Yang Wang   +13 more
wiley   +1 more source

Efficacy of a problem, intervention, control, and outcomes (PICO)-based perioperative blood management plan developed for patients undergoing long-segment lumbar spine posterior surgery. [PDF]

Eur J Med Res
Gao H, Wang TT, Xuan Q, Xu GH, Gu HY.
europepmc   +1 more source

Case of a 16‐Year‐Old Boy With Headache, Vomiting, and Behavioral Changes

Annals of Clinical and Translational Neurology, EarlyView.
Kundian Guo, Zhen Hong
wiley   +1 more source

Pulse Pressure, White Matter Hyperintensities, and Cognition: Mediating Effects Across the Adult Lifespan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate whether pulse pressure or mean arterial pressure mediates the relationship between age and white matter hyperintensity load and to examine the mediating effect of white matter hyperintensities on cognition. Methods Demographic information, blood pressure, current medication lists, and Montreal Cognitive Assessment ...
Jade Hannan, Sarah Newman‐Norlund, Natalie Busby, Sarah C. Wilson, Roger Newman‐Norlund, Chris Rorden, Julius Fridriksson, Leonardo Bonilha, Nicholas Riccardi   +8 more
wiley   +1 more source

Research on ecological management zoning in Jilin Province based on a human well-being framework. [PDF]

Sci Rep
Zhang B, Liu J, Zhang Z, Zhu Y.
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Uncovering the Science-Policy Interface: Applying Bibliometric Approaches to the Wildfire Risk Management Domain. [PDF]

Environ Manage
Schlierkamp J, Berchtold C, Linde-Frech I.   +2 more
europepmc   +1 more source

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source