An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review
ConclusionsThe phenotype of ANXA11-related cases is heterogeneous, and most cases showed typical ALS, while some could also have the characteristics of frontotemporal dementia (FTD) and PSP, even inclusion body myopathies (hIBM) occurred in familial ALS (FALS). Our patient presented with ALS with a co-morbid PSP-like symptom (ALS-PSP) phenotype, which has not been reported. Except for our patient, the remaining eight patients with the ANXA11 p.D40G variant presented with a classical ALS phenotype without cognitive impairment. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 16, 2023 Category: Neurology Source Type: research
Anti ‐CCAR1 autoantibodies are specific for anti‐TIF1γ‐positive dermatomyositis and decrease cancer risk relative to the general population
ConclusionsAnti-CCAR1 autoantibodies are specific for anti-TIF1- γ-positive dermatomyositis. Their presence in anti-TIF1-γ-positive patients attenuates the risk of cancer to a level comparable to that seen in the general population. (Source: Arthritis and Rheumatology)
Source: Arthritis and Rheumatology - February 11, 2023 Category: Rheumatology Authors: David Fiorentino,
Christopher A Mecoli,
Tak Igusa,
Jemima Albayda,
Julie J Paik,
Eleni Tiniakou,
Brittany Adler,
Andrew L. Mammen,
Ami A Shah,
Antony Rosen,
Lisa Christopher ‐Stine,
Livia Casciola‐Rosen Tags: Full Length Source Type: research
Current status of clinical outcome measures in inclusion body myositis: a systematised review
CONCLUSIONS: There are inconsistencies in using outcome measures in clinical studies in IBM. The core set measures developed by the IMACS group for other IIMs are not directly applicable to IBM. As a result, there is an unmet need for an IBM-specific core set of measures to facilitate the evaluation of new potential therapeutics for IBM.PMID:36762744 | DOI:10.55563/clinexprheumatol/ifacv3 (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - February 10, 2023 Category: Rheumatology Authors: Bhaskar Roy Matteo Lucchini James B Lilleker Namita A Goyal Elie Naddaf Brittany Adler Lindsay N Alfano Georgia A Malandraki Kendrea L Focht Garand David Mochel Umesh Badrising Pedro M Machado Ruben Pagkatipunan Leo Wang Melissa C Funaro Jens Schmidt Hani Source Type: research
Anti-CCAR1 autoantibodies are specific for anti-TIF1 γ-positive dermatomyositis and decrease cancer risk relative to the general population
CONCLUSIONS: Anti-CCAR1 autoantibodies are specific for anti-TIF1-γ-positive dermatomyositis. Their presence in anti-TIF1-γ-positive patients attenuates the risk of cancer to a level comparable to that seen in the general population.PMID:36762496 | DOI:10.1002/art.42474 (Source: Cancer Control)
Source: Cancer Control - February 10, 2023 Category: Cancer & Oncology Authors: David Fiorentino Christopher A Mecoli Tak Igusa Jemima Albayda Julie J Paik Eleni Tiniakou Brittany Adler Andrew L Mammen Ami A Shah Antony Rosen Lisa Christopher-Stine Livia Casciola-Rosen Source Type: research
Current status of clinical outcome measures in inclusion body myositis: a systematised review
CONCLUSIONS: There are inconsistencies in using outcome measures in clinical studies in IBM. The core set measures developed by the IMACS group for other IIMs are not directly applicable to IBM. As a result, there is an unmet need for an IBM-specific core set of measures to facilitate the evaluation of new potential therapeutics for IBM.PMID:36762744 | DOI:10.55563/clinexprheumatol/ifacv3 (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - February 10, 2023 Category: Rheumatology Authors: Bhaskar Roy Matteo Lucchini James B Lilleker Namita A Goyal Elie Naddaf Brittany Adler Lindsay N Alfano Georgia A Malandraki Kendrea L Focht Garand David Mochel Umesh Badrising Pedro M Machado Ruben Pagkatipunan Leo Wang Melissa C Funaro Jens Schmidt Hani Source Type: research
