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Total 70 results found since Jan 2013.

Post-polio syndrome presenting as isolated neck extensor myopathy: a case report
CONCLUSIONS: Survivors of paralytic polio are especially vulnerable to developing leg weakness and length discrepancy, pelvic obliquity, asymmetric axial loading, and trunk muscular imbalance. The current case demonstrates a rare myopathy in a patient at post-polio stage, as well as the restoration of neck function with chiropractic intervention.PMID:37122964 | PMC:PMC10130685 | DOI:10.21037/acr-22-76
Source: Pain Physician - May 1, 2023 Category: Anesthesiology Authors: Eric Chun-Pu Chu Fadi Al Zoubi Source Type: research

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.
Source: Frontiers in Immunology - February 17, 2023 Category: Allergy & Immunology Source Type: research

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype
ConclusionThis is the first case of POH phenotype associated with a novel de novo pathogenic frameshift variant inFAM111B. Whether the frameshift change inFAM111B predicts POH remains unclear. Further evaluations are necessary to fully elucidate this finding and the potential role and mechanism by which theFAM111B variants contributes to POH phenotype.
Source: Calcified Tissue International - December 27, 2022 Category: Orthopaedics Source Type: research

A Systematic Review and Metaanalysis of Predictors of Mortality in Idiopathic Inflammatory Myopathy-Associated Interstitial Lung Disease
CONCLUSION: Many mortality risk factors were identified, though heterogeneity was high, with a low quality of evidence and a risk of publication bias. Studies regarding anti-MDA5 antibody-positive disease and and those from East Asia predominate, which could mask risk factors relevant to other IIM subgroups or populations.PMID:36379584 | DOI:10.3899/jrheum.220383
Source: J Rheumatol - November 15, 2022 Category: Rheumatology Authors: Jennifer Hannah Huiyi E Law Tanya Gordon Michael Rooney April Buazon Maryam Adas Deepak Nagra Christopher Stovin James Galloway Patrick Gordon Source Type: research