Results 151 to 160 of about 1,365,294 (196)

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

Possible Significance of Neutrophil-Hemoglobin Ratio in Differentiating Progressive Supranuclear Palsy from Depression: A Pilot Study. [PDF]

Diseases
Markiewicz M, Madetko-Alster N, Otto-Ślusarczyk D, Duszyńska-Wąs K, Migda B, Chunowski P, Struga M, Alster P.   +7 more
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

Clinical validation of the Unesp-Botucatu acute pain scale in sheep undergoing orthopedic surgery. [PDF]

PLoS One
da Silva NEOF, Trindade PHE, da Silva GV, de Oliveira FA, Taffarel MO, de Lima MT, Tomacheuski RM, Rosa GDS, Alves ALG, Luna SPL.   +9 more
europepmc   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Critical appraisal of transperineal Doppler ultrasound as a diagnostic tool for hemorrhoidal recurrence. [PDF]

Int J Colorectal Dis
Schiano di Visconte M.
europepmc   +1 more source

Equality, equity, diversity, and inclusion principles: how should we apply these to statistical methodology research? [PDF]

BMC Med Res Methodol
Smith E, Akroyd C, Barnes R, Beeston E, Broomfield J, Bujkiewicz S, Darko N, Newby C, Rutherford MJ, Smith A, Stannard R, Tyrer F, Gray LJ.   +12 more
europepmc   +1 more source

Risk profiling for cirrhosis and hepatocellular carcinoma in HFE hemochromatosis using mobilizable iron stores and alcohol consumption. [PDF]

Sci Rep
Mitchell NDP, Pierre TGS, Ramm LE, Ramm GA, Olynyk JK.   +4 more
europepmc   +1 more source

Are we all seeing the same thing? Discrepancies between parent-reported and physician-reported positional plagiocephaly severity scores. [PDF]

Childs Nerv Syst
Ryu GS, Newland M, Hiller A, Rizk E, Samson T.   +4 more
europepmc   +1 more source

A Scoping Review of the Experiences of Internationally Educated Nurses Working With Older Adults in High-Income Countries. [PDF]

Int J Older People Nurs
Kokorelias KM, Saragosa M, Abdelhalim R, Vo A.   +3 more
europepmc   +1 more source