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Cytokine 2020 May 13;133:155124. Epub 2020 May 13.

Department of Biochemistry, Faculty of Pharmacy, Cairo University, Cairo, Egypt. Electronic address:

Systemic sclerosis or systemic scleroderma (SSc) is an inflammatory autoimmune disease whose pathogenesis remains ambiguous; however, epigenetics, including long noncoding RNAs (lncRNAs) is an emerging paradigm. To date, the expression, role and clinical significance of most lncRNAs in SSc remain unelucidated. Herein, we investigated the plasma expression profiles of lncRNAs; ANCR, TINCR, HOTTIP, and SPRY4-IT1, which were linked to skin biology, in SSc patients and its subtypes, their potential as diagnostic tools and their correlations with autoantibodies and disease manifestations. Read More

Rheumatology (Oxford) 2020 May 23. Epub 2020 May 23.

Jefferson Institute of Molecular Medicine and Scleroderma Center, PA, USA.

Objective: SSc is a systemic fibrotic disease affecting skin, numerous internal organs and the microvasculature. The molecular pathogenesis of SSc tissue fibrosis has not been fully elucidated, although TGF-β1 plays a crucial role. The Hic-5 protein encoded by the TGF-β1-inducible HIC-5 gene participates in numerous TGF-β-mediated pathways, however, the role of Hic-5 in SSc fibrosis has not been investigated. Read More

Dermatol Ther 2020 May 22:e13641. Epub 2020 May 22.

Department of Rheumatology，PLA General Hospital, Beijing, China.

Eosinophilic fasciitis (EF) is a rare connective tissue disease characterized by increased peripheral blood eosinophils and diffuse fasciitis, generalized morphea (GM) is a subtype of localized scleroderma, and IgA nephropathy is a chronic glomerulonephritis caused by abnormal deposition of IgA in the mesangial area of the glomeruli. We describe a 49-year-old male patient with hard skin, cutaneous hyperpigmentation, and proteinuria. The patient had suffered from a long disease course of hard skin, while urine protein was newly detected. Read More

Neuroradiology 2020 May 20. Epub 2020 May 20.

Department of Radiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London, WC1N 3JH, UK.

This review updates the radiologist on current epilepsy surgery practice in children, with a specific focus on the role of imaging in pre-surgical work-up, current and novel surgical techniques, expected post-surgical imaging appearances and important post-operative complications. A comprehensive review of the current and emerging international practices in paediatric epilepsy surgical planning and post-operative imaging is provided with details on case-based radiological findings. A detailed discussion of the pathophysiology and imaging features of different epileptogenic lesions will not be discussed as this is not the objective of this paper. Read More

Rheumatol Int 2020 May 18. Epub 2020 May 18.

Division of Rheumatology, Department of Internal Medicine, Pusan National University Hospital, Pusan National University School of Medicine, 179 Gudeok-Ro, Seo-Gu, Busan, 49241, South Korea.

In this study, we aimed to investigate the association of platelet-to-lymphocyte ratio (PLR) and neutrophil-to-lymphocyte ratio (NLR) with clinical manifestations in patients with systemic sclerosis (SSc). We conducted a cross-sectional analysis of data collected from a cohort study of 114 female patients with SSc and of 304 age-matched, healthy, female controls recruited from a tertiary rheumatology center. Patients with digital ulcers (DU) included those with either active or healed ulcers. Read More

Int J Rheum Dis 2020 May 18. Epub 2020 May 18.

Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.

Background: Most Thai patients with systemic sclerosis (SSc) have diffuse cutaneous SSc (dcSSc) unlike most Caucasians and some Asians. A longitudinal cohort study among Thai dcSSc is needed.

Objectives: We aimed to determine the overall clinical characteristics, define the clinical difference between limited cutaneous SSc (lcSSc) and dcSSc, and ascertain the mortality rate and the factors associated with mortality. Read More

Hematol Transfus Cell Ther 2020 Apr 29. Epub 2020 Apr 29.

Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. Electronic address:

Autoimmune diseases are an important field for the development of bone marrow transplantation, or hematopoietic stem cell transplantation. In Europe alone, almost 3000 procedures have been registered so far. The Brazilian Society for Bone Marrow Transplantation (Sociedade Brasileira de Transplantes de Medula Óssea) organized consensus meetings for the Autoimmune Diseases Group, to review the available literature on hematopoietic stem cell transplantation for autoimmune diseases, aiming to gather data that support the procedure for these patients. Read More

J Eur Acad Dermatol Venereol 2020 May 12. Epub 2020 May 12.

Department. of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

In patients with tuberous sclerosis we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary nonsegmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. Read More

Clin Rheumatol 2020 May 8. Epub 2020 May 8.

Division of Rheumatology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.

Objectives: In systemic sclerosis, baseline extent of radiological involvement is an important outcome predictor and baseline absence of radiological involvement suggests a more favourable prognosis. As current predictive models are based on cohorts with variable disease duration, we aim to assess disease dynamics in early disease.

Methods: Patients were included from the prospective longitudinal Belgian Systemic Sclerosis Cohort. Read More

Arthritis Rheumatol 2020 May 7. Epub 2020 May 7.

Department of Internal Medicine, National Referral Center for Rare Systemic Autoimmune Diseases of Ile de France, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Background: Myocardial involvement may occur during systemic sclerosis (SSc) and lead to impaired myocardial contraction and/or arrhythmia. Cardiac magnetic resonance imaging (CMRI) is used for noninvasive characterization of myocardium. We aimed to evaluate the interest of CMRI with intravoxel incoherent motion (IVIM) diffusion-weighted imaging (DWI) and T1 mapping to assess myocardial microvascular and interstitium impairment in SSc. Read More

Arthritis Rheumatol 2020 May 5. Epub 2020 May 5.

Medicine Yale School of Medicine Department of Medicine Section of Rheumatology, Allergy & Immunology 300 Cedar Street The Anlyan Center PO BOX 208031, New Haven, CT, 06520, USA.

Spiera et al. report promising results of a small multicenter, double-blind, randomized, placebo-controlled, phase II study of lenabasum, a cannabinoid type 2 (CB2) receptor agonist, for the treatment of skin disease in patients with early diffuse cutaneous systemic sclerosis (dcSSc) on stable background immunosuppression. This study is important because it examines the effects of cannabinoid (CB) modulation in SSc, a hitherto unexplored pathway, it uses the American College of Rheumatology (ACR) Combined Response Index in Systemic Sclerosis (CRISS) index as an outcome in a 12-week as opposed to its intended use in 12-month clinical trials, and it redemonstrates the utility of obtaining skin biopsies to assess secondary outcomes in SSc clinical trials. Read More

Chest 2020 Apr 28. Epub 2020 Apr 28.

Department of Experimental and Clinical Medicine, Division of Rheumatology, University of Florence, Italy.

Background: A high percentage of systemic sclerosis (SSc) patients develop interstitial lung disease (ILD) during the disease course. Recent data have shown that lung ultrasound (LUS) can assess ILD by the evaluation of B-lines, the sonographic sign of pulmonary interstitial involvement. Our aim was to establish the prognostic value of B-lines in a large number of SSc patients. Read More

Sci Rep 2020 Apr 28;10(1):7145. Epub 2020 Apr 28.

Department of Clinical Sciences Lund, Rheumatology, Lund University and Skåne University Hospital, Lund, Sweden.

Tissue turnover, especially in the skin, is altered in systemic sclerosis (SSc), leading to tissue accumulation. The objective was to examine type III, IV, and VI collagens turnovers in SSc and investigate longitudinal alterations in relation to modified Rodnan Skin Score (mRSS). We included patients fulfilling the 2013 ACR/EULAR criteria for SSc (limited cutaneous [lcSSc, n = 20], diffuse cutaneous SSc [dcSSc, n = 23]) and healthy controls (HC, n = 10). Read More

Semin Arthritis Rheum 2020 Apr 9. Epub 2020 Apr 9.

Rhumatologie, Hôpital Cochin, APHP, Université de Paris, Hôpital Cochin, 27 rue du Faubourg Saint-Jacques, 75014 Paris, France. Electronic address:

Objectives: We aimed to clarify the definition, distribution, clinical association and outcomes of large calcinosis in patients with systemic sclerosis (SSc).

Methods: We conducted a systematic literature review (SLR) focusing on SSc-related large calcified masses. Upon updating the terminology and definition, all cases of "pseudotumoral" calcinosis seen at the Cochin and Padova University Hospitals were reviewed. Read More

Arthritis Rheumatol 2020 Apr 26. Epub 2020 Apr 26.

Corbus Pharmaceuticals, Inc. Norwood, Norwood, MA, USA.

Objective: Assess safety and efficacy of lenabasum in diffuse cutaneous systemic sclerosis (dcSSc).

Methods: A double-blind, randomized, placebo-controlled Phase 2 study was conducted at nine SSc clinics in the USA. Adults with dcSSc ≤ 6 years duration on stable standard-of-care treatment received lenabasum (N = 27) or placebo (N = 15). Read More

JNMA J Nepal Med Assoc 2019 Nov-Dec;57(220):457-459

Department of Internal Medicine, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

Systemic sclerosis is a connective tissue disease characterized by wide-spread vascular lesions and fibrosis of the skin and internal organs. It is an immune mediated rheumatic disease with the presence of an immunological dysfunction of T lymphocytes, especially Th1 and Th17 subtypes. It affects gastrointestinal, pulmonary, vascular, musculoskeletal, cardiac and various other systems. Read More

CNS Spectr 2020 Apr;25(2):267

Associate Professor, Neurology Department, Loyola University Medical Center, Chicago, USA.

Introduction: Typical amyotrophic lateral sclerosis (ALS) presents on neurological examination with specific signs of upper and lower motor neuron degeneration (Brooks et al, 1995), which can account for 85% of patients with ALS (Turner and Talbot, 2013). There are different types of clinical presentations, including progressive bulbar palsy (PBP), Limb-onset ALS, progressive muscular atrophy (PMA) and upper motor neuron (UMN) predominant ALS. PBP has mainly brainstem signs. Read More

Z Rheumatol 2020 Apr 22. Epub 2020 Apr 22.

Medizinische Klinik m.S. Rheumatologie und Klinische Immunologie, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Deutschland.

There have been three randomized controlled trials on autologous hematopoietic stem cell transplantation (AHSCT) in systemic sclerosis (SSc) that demonstrated significant superiority with respect to survival, improvement of cutaneous fibrosis, lung function and quality of life compared to standard treatment; however, these advantages must be carefully weighed against the transplantation-related risks. For this reason, an expert group from the stem cell therapy working party of the German Society for Rheumatology (DGRh) has now developed recommendations for the use of AHSCT in SSc. Based on the high-quality evidence, AHSCT is considered as the standard option for the treatment of selected SSc patients. Read More

Microvasc Res 2020 Apr 19;130:104006. Epub 2020 Apr 19.

Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom of Great Britain and Northern Ireland; Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom of Great Britain and Northern Ireland.

Objective: A key unanswered question in systemic sclerosis (SSc) is how microvascular abnormality and fibrosis inter-relate. Our aim was to use state-of-the-art non-invasive imaging methods to gain new insights into pathophysiology, comparing patients with different subtypes of SSc, including early dcSSc, not only to healthy controls but also to patients with causes of Raynaud's phenomenon not progressing to fibrosis.

Methods: Laser Doppler imaging, nailfold capillaroscopy, spectroscopy, and ultrasound measured (respectively) perfusion, microvascular structure, oxygenation/oxidative stress, and skin thickening in the hands of 265 subjects: 31 patients with primary Raynaud's phenomenon (PRP), 35 with undifferentiated connective tissue disease (UCTD), 93 with limited cutaneous SSc (lcSSc), 46 with diffuse cutaneous SSc (dcSSc, including 27 'early') and 60 healthy controls. Read More

Diagnostics (Basel) 2020 Apr 16;10(4). Epub 2020 Apr 16.

Regional Referral Centre for Rare Lung Diseases, A. O. U. "Policlinico-Vittorio Emanuele" Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.

Interstitial lung disease (ILD) is the main cause of death in systemic sclerosis (SSc) patients. Usually, patients have lung involvement characterized by ground glass opacities (GGOs), but honeycombing (HC) is also possible. The Wells score is a semi-quantitative index, which is able to assess ILD by distinguishing its main components. Read More

Genet Test Mol Biomarkers 2020 May 21;24(5):309-317. Epub 2020 Apr 21.

Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Systemic Sclerosis (SSc), also known as scleroderma, is an autoimmune rheumatic disease, which is clinically subdivided into two major subgroups; limited (lcSSc) and diffuse cutaneous scleroderma (dcSSc). Even though the SSc etiologies remains unclear, some HLA and non-HLA genetic variants have been associated with the disease. This study was designed to evaluate the associations between several HLA-related genetic variants and SSc in the Greek-Cypriot population. Read More

Am J Physiol Renal Physiol 2020 Jun 20;318(6):F1377-F1390. Epub 2020 Apr 20.

Departments of Medicine and Physiology, McGill University Health Centre Research Institute, McGill University, Montreal, Quebec, Canada.

Ste20-like kinase SLK is critical for embryonic development and may play an important role in wound healing, muscle homeostasis, cell migration, and tumor growth. Mice with podocyte-specific deletion of SLK show albuminuria and damage to podocytes as they age. The present study addressed the role of SLK in glomerular injury. Read More

Exp Neurol 2020 Jul 15;329:113316. Epub 2020 Apr 15.

The Russell H. Morgan Department of Radiology and Radiological Science, Division of MR Research, The Johns Hopkins University School of Medicine, United States of America; Cellular Imaging Section and Vascular Biology Program, Institute for Cell Engineering, The Johns Hopkins University School of Medicine, United States of America; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, United States of America; Department of Oncology, the Johns Hopkins University School of Medicine, United States of America; Department of Biomedical Engineering, The Johns Hopkins University School of Medicine, United States of America; Department of Chemical & Biomolecular Engineering, The Johns Hopkins University School of Medicine, United States of America. Electronic address:

The development and translation of cell therapies have been hindered by an inability to predict and evaluate their efficacy after transplantation. Using an experimental autoimmune encephalomyelitis (EAE) mouse model of multiple sclerosis (MS), we studied attenuation of the diffuse injury characteristic of EAE and MS by transplanted glial-restricted precursor cells (GRPs). We assessed the potential of on-resonance variable delay multiple pulse (onVDMP) chemical exchange saturation transfer (CEST) MRI to visualize this attenuation. Read More

Clin Exp Rheumatol 2020 04 14. Epub 2020 Apr 14.

University of Florence, Italy.

Objectives: Systemic sclerosis (SSc) is a severe multiple-organ disease characterised by unpredictable clinical course, inadequate response to treatment, and poor prognosis. National SSc registries may provide large and representative patients cohorts required for descriptive and prognostic studies. Therefore, the Italian Society of Rheumatology promoted the registry SPRING (Systemic sclerosis Progression INvestiGation). Read More

Ann Rheum Dis 2020 May;79(5):618-625

Department of Rheumatology, University Hospital, Zurich, Switzerland

Objectives: Riociguat is approved for pulmonary arterial hypertension and has antiproliferative, anti-inflammatory and antifibrotic effects in animal models of tissue fibrosis. We evaluated the efficacy and safety of riociguat in patients with early diffuse cutaneous systemic sclerosis (dcSSc) at high risk of skin fibrosis progression.

Methods: In this randomised, double-blind, placebo-controlled, phase IIb trial, adults with dcSSc of <18 months' duration and a modified Rodnan skin score (mRSS) 10-22 units received riociguat 0. Read More

Reumatismo 2020 Apr 10;72(1):44-51. Epub 2020 Apr 10.

Rheumatology Research Center, Tehran University of Medical Sciences, Tehran.

Systemic sclerosis (SSc) is a collagen-vascular disorder characterized by fibrosis and vasculopathy. Delta finger to palm distance (delta FTP) is an index measuring the distance between the tip of the third finger to the distal palmar crease in the flexed and extended position. The present study aimed to evaluate the clinical value of delta FTP and to assess the correlation of delta FTP with modified Rodnan skin score (mRSS) and forced vital capacity (FVC) over the 12-month follow-up. Read More

Sleep Breath 2020 Apr 13. Epub 2020 Apr 13.

Department of Pulmonary Medicine, School of Medicine, Koc University, Koc University Hospital, Davutpasa cad, No. 4, Zeytinburnu, TR-34010, Istanbul, Turkey.

Purpose: Pulmonary involvement is common in adults with scleroderma. The effect of concomitant obstructive sleep apnea (OSA) on risk for pulmonary hypertension in scleroderma is unknown. An enlarged main pulmonary artery diameter (mPAD) derived from chest computer tomography (CT) is a useful predictor of pulmonary hypertension. Read More

J Autoimmun 2020 Apr 10:102444. Epub 2020 Apr 10.

Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:

Objective: To analyze how monocyte and macrophage exposure to CXCL4 induces inflammatory and fibrotic processes observed in Systemic sclerosis (SSc) patients.

Methods: In six independent experiments, monocytes of healthy controls (HC) and SSc patients were stimulated with CXCL4, TLR-ligands, IFNɑ or TGFβ and the secretion of cytokines in the supernatant was assessed by multiplex immunoassays. PDGF-BB production by monocyte-derived macrophages was quantified using immunoassays. Read More

Rev Mal Respir 2020 Apr 10;37(4):341-345. Epub 2020 Apr 10.

Service de pneumologie, hôpital Avicenne, centre de référence des maladies pulmonaires rares de l'adulte, site constitutif, AP-HP, 125, rue de Stalingrad, 93000 Bobigny, France; Inserm UMR 1272, laboratoire « hypoxie et poumon », université Paris 13, Bobigny, France. Electronic address:

In systemic sclerosis, the presence of an anti-RNA polymerase III antibody (ARNpol3) is associated with an increased risk of cancer. The characteristic picture of this serotype includes severe diffuse cutaneous involvement, a high risk of renal scleroderma crisis and a 10 year survival of only around 30%. Pulmonary involvement is less common. Read More

Semin Respir Crit Care Med 2020 Apr 12;41(2):256-268. Epub 2020 Apr 12.

Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.

Lymphangioleiomyomatosis (LAM) is a slow albeit progressive rare neoplastic disease featured with diffuse thin-walled cysts in lungs and angiomyolipomas in kidneys. LAM affects almost exclusively women and has one of the strongest gender predispositions of any extragenital human disease. Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). Read More

Rev Mal Respir 2020 Apr 8. Epub 2020 Apr 8.

Service de pneumologie, hôpital Avicenne, AP-HP, Bobigny, France; INSERM 1272 « Réponses cellulaires et fonctionnelles à l'hypoxie », Université Paris 13, Bobigny, France.

Few studies have examined the effects of air pollution in diffuse interstitial lung disease and they have focused on small numbers of patients. Most data are available in idiopathic pulmonary fibrosis and studies suggest that the level of exposure to pollutants may influence the development of acute exacerbations (ozone and NO), their incidence (NO), decline in respiratory function (PM) and death (PM and PM). Several studies show an increase in the incidence of rheumatoid arthritis in people living near busy roads. Read More

Neuroimage Clin 2020 Mar 2;26:102234. Epub 2020 Mar 2.

Department of Radiology, Center for Magnetic Resonance Research (CMRR), University of Minnesota, Minneapolis, MN, USA. Electronic address:

Even though MRI visualization of white matter lesions is pivotal for the diagnosis and management of multiple sclerosis (MS), the issue of detecting diffuse brain tissue damage beyond the apparent T2-hyperintense lesions continues to spark considerable interest. Motivated by the notion that rotating frame MRI methods are sensitive to slow motional regimes critical for tissue characterization, here we utilized novel imaging protocols of rotating frame MRI on a clinical 3 Tesla platform, including adiabatic longitudinal, T1ρ, and transverse, T2ρ, relaxation methods, and Relaxation Along a Fictitious Field (RAFF) in the rotating frame of rank 4 (RAFF4), in 10 relapsing-remitting multiple sclerosis patients and 10 sex- and age-matched healthy controls. T1ρ, T2ρ and RAFF4 relaxograms extracted from the whole white matter exhibited a significant shift towards longer relaxation time constants in MS patients as compared to controls. Read More

World J Clin Cases 2020 Mar;8(6):1129-1136

Department of Cardiology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China.

Background: Systemic sclerosis is a rare connective tissue disease characterized by localized or diffuse skin thickening and fibrosis, which usually accumulates in various organs throughout the body. Tachyarrhythmia is a common clinical manifestation of cardiovascular damage in systemic sclerosis patients. However, few studies have reported the use of catheter ablation and an implantable cardioverter defibrillator in patients with systemic sclerosis complicated by ventricular tachycardia. Read More

Auto Immun Highlights 2019 Dec 10;10(1). Epub 2019 Aug 10.

1Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100 Larissa, Greece.

Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system characterized by focal or diffuse inflammation, demyelination, axonal loss and neurodegeneration. Brain atrophy can be seen in the earliest stages of MS, progresses faster compared to healthy adults, and is a reliable predictor of future physical and cognitive disability. In addition, it is widely accepted to be a valid, sensitive and reproducible measure of neurodegeneration in MS. Read More

Immunol Res 2020 02;68(1):39-47

Department of Rheumatology and Clinical Immunology, University General Hospital, Faculty of Medicine, School of Health Sciences, University of Thessaly, Viopolis, 41110, Larissa, Greece.

Helicobacter pylori (Hp) is a likely trigger of systemic sclerosis (SSc), but systemic antigen-specific antibody (Ab) responses in a well-defined cohort of SSc patients have not been thoroughly assessed. Line immunoassay and immunoblotting testing Abs against 15 Hp antigens were performed in 91 SSc patients and 59 demographically matched healthy controls (HCs). Results were validated in an independent cohort of 35 SSc patients. Read More

Sci Rep 2020 Mar 23;10(1):5199. Epub 2020 Mar 23.

Department of Neurology, Korea University Anam Hospital, Korea University College of Medicine, Seoul, 02841, Republic of Korea.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. However, no reliable biomarkers have been identified to represent the clinical status. This study aimed to investigate whether diffusion tensor imaging (DTI) findings are useful imaging biomarkers to indicate the clinical status of ALS patients. Read More

Dermatol Ther 2020 Apr 6:e13378. Epub 2020 Apr 6.

Division of Rheumatology, Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, South Korea.

Scleromyxedema is a rare connective tissue disorder characterized by a generalized lichenoid eruption and sclerodermoid induration with histologic features of dermal mucin deposition. A 44-year-old man presented with a 3-year history of generalized progressive skin thickening and sclerosis. He had diffuse skin-colored to erythematous firm papules coalescing into indurated plaques over his whole body. Read More

Semin Arthritis Rheum 2020 Feb 29. Epub 2020 Feb 29.

Département d'Imagerie Thoracique, CHU Lille, F-59000 Lille, France.

Objective: The aims of our study were to describe the evolution of interstitial lung disease (ILD) extent on HRCT scan in systemic sclerosis (SSc), to identify baseline prognostic factors associated with ILD evolution and to assess whether the evolution of pulmonary function tests (PFTs) correlated with this evolution.

Methods: 58 SSc with ILD (SSc-ILD) patients were included. All HRCT scans and PFTs available were collected. Read More

Mod Rheumatol 2020 Apr 21:1-9. Epub 2020 Apr 21.

Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

To investigate the clinical course of Japanese patients with early diffuse cutaneous systemic sclerosis (dcSSc) and early SSc with interstitial lung disease (ILD). We prospectively analyzed the clinical features of 207 Japanese patients with early dcSSc (n = 150) and limited cutaneous SSc (lcSSc) with ILD (n = 57) in 10 medical centers every year for 7 consecutive years. Mean modified Rodnan total skin thickness score (mRSS) was 18. Read More

Rheumatol Int 2020 May 1;40(5):703-710. Epub 2020 Apr 1.

Post Graduate Institute of Medical Education and Research, Chandigarh, India.

To assess the efficacy and safety of pirfenidone in systemic sclerosis-related interstitial lung disease (SSc-ILD). This was a double-blind, randomised, placebo-controlled, pilot study. Subjects with SSc-ILD and forced vital capacity (FVC) between 50 and 80% of the predicted (%pred) value were randomised in 1:1 ratio to receive either pirfenidone (2400 mg/day) or placebo for 6 months. Read More

Arthritis Rheumatol 2020 Mar 31. Epub 2020 Mar 31.

UCL Centre for Rheumatology and Connective Tissue Diseases, Royal Free Hospital Campus, University College London Medical School, Rowland Hill Street, London, NW3 2PF, UK.

Objective: In systemic sclerosis (SSc) a persistent tissue repair process leads to progressive fibrosis of the skin and internal organs. The role of mesenchymal stem cells (MSCs), which characteristically initiate and regulate tissue repair, has not been fully evaluated. We sought to investigate whether dividing metakaryotic MSCs are present in SSc skin, and test whether exposure to the disease microenvironment activates MSCs leading to transdifferentation. Read More

J Dermatol 2020 Mar 30. Epub 2020 Mar 30.

Department of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.

Endothelial dysfunction is a hallmark of vasculopathy associated with systemic sclerosis (SSc). Reactive hyperemia peripheral arterial tonometry is a rapid and non-invasive technique to assess peripheral microvascular endothelial function by measuring changes in digital pulse volume during reactive hyperemia. Low scores of the reactive hyperemia index (RHI) imply an impaired vasodilatory response and, accordingly, impaired endothelial and vascular health. Read More

Front Physiol 2020 13;11:116. Epub 2020 Mar 13.

Department of Neurology, Goethe University Frankfurt, Frankfurt, Germany.

Purpose: Diffuse cortical damage in relapsing-remitting multiple sclerosis (RRMS) is clinically relevant but cannot be directly assessed with conventional MRI. In this study, it was aimed to use diffusion tensor imaging (DTI) techniques with optimized intrinsic eddy current compensation to quantify and characterize cortical mean diffusivity (MD) and fractional anisotropy (FA) changes in RRMS and to analyze the distribution of these changes across the cortex.

Materials And Methods: Three-Tesla MRI acquisition, mapping of the MD providing information about the integrity of microstructural barriers and of the FA reflecting axonal density and surface-based analysis with Freesurfer were performed for 24 RRMS patients and 25 control subjects. Read More

Am J Physiol Renal Physiol 2020 May 30;318(5):F1177-F1187. Epub 2020 Mar 30.

Division of Nephrology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.

Loss-of-function mutations in phospholipase C-ε1 (PLCE1) have been detected in patients with nephrotic syndrome, but other family members with the same mutation were asymptomatic, suggesting additional stressor are required to cause the full phenotype. Consistent with these observations, we determined that global -deficient mice have histologically normal glomeruli and no albuminuria at baseline. Angiotensin II (ANG II) is known to induce glomerular damage in genetically susceptible individuals. Read More

Eur J Neurol 2020 Mar 28. Epub 2020 Mar 28.

Mellen Center for Multiple Sclerosis, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.

Background And Purpose: To analyze the relationship between cognitive processing speed, patient-reported outcome measures (PROMs), employment and magnetic resonance imaging (MRI) metrics in a large multiple sclerosis cohort.

Methods: Cross-sectional clinical data, PROMs, employment and MRI studies within 90 days of completion of the Processing Speed Test (PST), a technology-enabled adaptation of the Symbol Digit Modalities Test, were collected. MRI was analyzed using semi-automated methods. Read More

J Neurol 2020 Mar 26. Epub 2020 Mar 26.

Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

There is mounting evidence regarding the role of impairment in neuromodulatory networks for neurodegenerative diseases, such as Parkinson's and Alzheimer's disease. However, the role of neuromodulatory networks in multiple sclerosis (MS) has not been assessed. We applied resting-state functional connectivity and graph theory to investigate the changes in the functional connectivity within neuromodulatory networks including the serotonergic, noradrenergic, cholinergic, and dopaminergic systems in MS. Read More

ACR Open Rheumatol 2020 Apr 21;2(4):197-206. Epub 2020 Mar 21.

Stanford University School of Medicine and Department of Veterans Affairs Palo Alto Health Care System, Palo Alto, California.

Objective: The objective of this study is to evaluate racial/ethnic differences in disease manifestations and survival in a US cohort of patients with systemic sclerosis (SSc), with a focus on Asian patients.

Methods: A retrospective cohort study was conducted among Kaiser Permanente Northern California adults with an incident SSc diagnosis by a rheumatologist from 2007 to 2016, confirmed by a chart review to fulfill 2013 American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria. Self-reported race/ethnicity was categorized as non-Hispanic white, Asian, Hispanic, and black. Read More

Skeletal Radiol 2020 Mar 20. Epub 2020 Mar 20.

Department of Medical Imaging, Royal National Orthopaedic Hospital, Stanmore, UK.

Objective: In-phase (IP) and out-of-phase (OOP) chemical shift imaging (CSI) is an established technique for clarifying the nature of indeterminate bone marrow lesions, a signal intensity (SI) drop of > 20% at 1.5 tesla (T) or > 25% on 3 T on the OOP sequence being consistent with a non-neoplastic process. Occasionally, SI increase is seen on OOP sequences. Read More

J Comput Assist Tomogr 2020 Mar/Apr;44(2):248-254

Department of Radiology, Alexandria Faculty of Medicine, Alexandria, Egypt.

We aim to review the imaging appearance of fulminant demyelinating disorders of central nervous system that have different pathological features, clinical course, clinical features, and imaging findings different from classic multiple sclerosis. Routine magnetic resonance imaging (MRI) can help in accurate localization of the lesions, detection of associated lesions, and monitoring of these patients. Advanced MRI combined with routine MRI can aid in differentiation fulminant demyelinating lesions from simulating malignancy. Read More

Ann Pathol 2020 Apr 17;40(2):168-179. Epub 2020 Mar 17.

Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France; CRCINA, université de Nantes, université d'Angers, 49100 Angers, France. Electronic address:

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type (which may transform into malignant peripheral nerve sheath tumor), and pilocytic astrocytomas of the optic pathways. Read More