Results 81 to 90 of about 745,933 (211)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Malignant Melanoma: To Biopsy or Not To Biopsy [PDF]
openaire +3 more sources
To Biopsy, or Not to Biopsy: Is There Really a Question? [PDF]
Chandrajit P. Raut +3 more
openaire +3 more sources
Objective Lupus low disease activity state (LLDAS) is a validated treatment target in systemic lupus erythematosus (SLE) but limited studies have explored the role of LLDAS in lupus nephritis (LN). This study aims to investigate the frequency and predictors of LLDAS attainment, and its benefit on LN relapse and renal function preservation in patients ...
Chak Kwan Cheung +6 more
wiley +1 more source
Hydroxychloroquine Associated with Lower Glomerular Filtration Rate Decline in Lupus Nephritis
Background Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical. Therefore, we analyzed data from our
Shivani Garg +9 more
wiley +1 more source
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla +13 more
wiley +1 more source
Objective We aimed to identify unique disease trajectories within rheumatoid arthritis‐associated interstitial lung disease (RA‐ILD) based on longitudinal forced vital capacity (FVC) values and their associated clinical outcomes. Methods We performed a cohort study of RA‐ILD within the Veterans Health Administration from 1999‐2021. RA‐ILD patients were
Bryant R. England +9 more
wiley +1 more source
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histological features and treatment response.
Andrea Fava +26 more
wiley +1 more source

