A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

ConclusionsBoth the age at the onset and the phenotypic severity of the syndrome in these two brothers were different despite identical genotypes. The younger patients had corneal opacities leading to deteriorating visual acuity. For the first time in this disease, opacities were successfully treated with corneal transplantations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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ConclusionsThis study suggests the benefit of IVIg as adjunctive therapy, with an acceptable tolerance profile, and supports its use as a CS-sparing agent, in SScAM.
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
ConclusionThis is the first report in the literature of a causative relation between methylphenidate and the development of SSc, a serious, life-threatening condition. Patients treated with CNS stimulants should be followed closely for side-effects such as RP and skin changes.
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
Conclusions: Affymetrix gene array analysis revealed increased NOX4 and reduced SOD2 expression in SSc and IPF fibroblasts. SOD2 silencing in non-ILD control fibroblasts induced a profibrotic phenotype. TGF-β increased NOX4 and inhibited SOD2 expression, while increasing ROS production and myofibroblast differentiation. JQ1 reversed the TGF-β-mediated NOX4/SOD2 imbalance and Nrf2 inactivation and attenuated ROS production and myofibroblast differentiation. The BET proteins Brd3 and Brd4 were shown to bind to the NOX4 promoter and drive TGF-β-induced NOX4 expression. Our data indicate a critical role of BET p...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Conclusions:Cardiopulmonary complications are common in patients with scleroderma, one of which may be sleep-disordered breathing. In our cohort, approximately one-third of individuals with scleroderma had evidence of sleep-disordered breathing. Moreover, the rate of sleep-disordered breathing in our population of scleroderma patients was twice the rate of pulmonary hypertension and was approximately the same as the rate of interstitial lung disease. Future prospective studies are needed to further assess the role of sleep-disordered breathing in scleroderma clinical outcomes.Citation:Nokes BT, Raza HA, Cartin-Ceba R, Lyng...
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
Natural killer (NK) cells are innate immune cells that interface with the adaptive immune system to generate a pro-inflammatory immune environment. Primary Biliary Cholangitis (PBC) is a hepatic autoimmune disorder with extrahepatic associations including systemic sclerosis, Sjogren's syndrome and thyroiditis. Immunogenetic studies have identified polymorphisms of the IL-12/STAT4 pathway as being associated with PBC. As this pathway is important for NK cell function we investigated NK cells in PBC. Circulating NK cells from individuals with PBC were constitutively activated, with higher levels of CD49a and the liver-homing...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Publication date: Available online 14 November 2019Source: Revista Clínica Española (English Edition)Author(s): A. Tomás-Velazquez, C. de la Puente Bujidos
Source: Revista Clinica Espanola - Category: Internal Medicine Source Type: research
Journal Name: Clinical Chemistry and Laboratory Medicine (CCLM) Issue: Ahead of print
Source: Clinical Chemistry and Laboratory Medicine - Category: Laboratory Medicine Source Type: research
Adenosine is a locally produced mediator exerting several cytoprotective effects via G-protein coupled cell membrane adenosine receptors (ARs) (Linden 2005). In the skin, adenosine can influence several (patho)physiological processes, such as wound healing, development of scleroderma, cutaneous inflammation, allergic reactions or barrier formation (Andr és et al. 2017; Burnstock et al. 2012; Silva-Vilches et al. 2019). A beneficial effect of adenosine on hair growth has already been reported in clinical studies: topical adenosine treatment was shown to alleviate the symptoms of alopecia by increasing hair thickness ...
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research
AbstractObjectiveTo assess the efficacy and safety of the Chinese herbTripterygium wilfordii Hook F (TwHF) for the treatment of systemic sclerosis-associated interstitial lung disease (SSc-ILD).MethodsSSc-ILD patients who were regularly treated for more than 1  year and were currently taking a stable dose of TwHF (40–60 mg/day) or CYC (100 mg/day) were selected from the EUSTAR database of Peking Union Medical College Hospital. The efficacy of treatments was assessed by the change in pulmonary function, including the forced vital capacity (FVC) and th e percentage of predicted FVC (FVC pred%).ResultsAmo...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
The objectives of this systematic review were to investigate the role of HRM in the assessment of SSc-associated upper GI involvement and to evaluate the correlation between HRM abnormalities and clinical characteristics and the effects of therapeutic interventions on HRM findings. Fifteen articles were included. Most (11/15) studies were of very good or good quality. Most studies assessed correlations between esophageal symptoms and esophageal dysmotility. Two studies assessed the effectiveness of buspirone and reported HRM findings. Studies assessing upper GI symptoms using validated questionnaires, such as the Universit...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
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