2,980 results match your criteria Mixed Connective Tissue Disease


Nailfold capillaroscopy for the early diagnosis of the scleroderma spectrum of diseases in patients without Raynaud's phenomenon.

J Scleroderma Relat Disord 2022 Jun 21;7(2):144-150. Epub 2022 Apr 21.

Department of Rheumatology and Immunology, Singapore General Hospital, Singapore.

Background: The utility of nailfold capillaroscopy in the evaluation of patients without Raynaud's phenomenon is unclear.

Objective: This study aims to compare the utility of nailfold capillaroscopy for the early diagnosis of the scleroderma-spectrum of diseases in patients who present with Raynaud's phenomenon, undifferentiated non-Raynaud's phenomenon features and positive systemic sclerosis-associated antibodies without scleroderma-spectrum of disease features.

Methods: Eligible patients were divided into three referral criteria groups: (I) Raynaud's phenomenon; (II) Undifferentiated non-Raynaud's phenomenon features and (III) Positive systemic sclerosis-associated autoantibodies without features to suggest scleroderma-spectrum of diseases. Read More

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Health-related quality of life in patients with mixed connective tissue disease: a comparison with matched systemic sclerosis patients.

Clin Exp Rheumatol 2022 05 2;40 Suppl 134(5):66-70. Epub 2022 May 2.

Department of Rheumatology, Leiden University Medical Center, The Netherlands.

Objectives: Health-Related Quality of Life (HRQoL) in adult patients with mixed connective tissue disease (MCTD) has not been described so far. Therefore, we performed an explorative study to evaluate HRQoL in MCTD patients.

Methods: MCTD patients fulfilling the Kahn criteria and participating in the prospective follow-up cohort for MCTD of the Leiden University Medical Center were included; and matched to systemic sclerosis (SSc) patients based on age, sex and disease duration. Read More

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Management of calcinosis cutis in rheumatic diseases.

J Rheumatol 2022 May 15. Epub 2022 May 15.

Hadiya Elahmar MD, Dermatologist at U-turn Dermatology Clinic, Kuwait; Dermatology and Venerology, Ain Shams University, Cairo, Egypt. Brian M Feldman MD MSc, Pediatrics, Medicine, Institute of Health Policy Management and Evaluation, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada. Sindhu R Johnson MD PhD, Toronto Scleroderma Program, Mount Sinai Hospital, Toronto Western Hospital, Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. Funding: Dr. Johnson is supported by a Canadian Institutes of Health Research New Investigator Award, Gurmej Kaur Dhanda Scleroderma Research Award, and the Oscar and Elanor Markovitz Scleroderma Research Fund. Dr. Feldman holds the Ho Family Chair in Autoimmune Diseases. Corresponding Author. Dr. Sindhu Johnson, Division of Rheumatology, Ground Floor, East Wing, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada, M5T 2S8. Phone 1-416-603-6417 Fax.1-416-603-4348. Email:

Calcinosis (hydroxyapatite and calcium phosphate crystal deposition) within the extracellular matrix of the dermis and subcutaneous tissue is a frequent manifestation of adult and pediatric systemic autoimmune rheumatic diseases, specifically systemic sclerosis, dermatomyositis, mixed connective tissue disease and systemic lupus erythematosus. In this article, we review classification of calcinosis, highlight mechanisms that may contribute to the pathogenesis of calcinosis and summarize the evidence evaluating non-pharmacologic and pharmacologic interventions for the treatment of calcinosis. Read More

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Systemic Lupus Erythematosus vs. Mixed Connective Tissue Disease Disguised As Scabies.

Cureus 2022 Mar 29;14(3):e23621. Epub 2022 Mar 29.

Medicine, Icahn School of Medicine at Mount Sinai, New York, USA.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that involves numerous body systems and may initially present as a malar or discoid rash. When there are features of other autoimmune disorders present, such as scleroderma or polymyositis, the term mixed connective tissue disorder (MCTD) may be used. The current literature illustrates that the diagnostic criteria for MCTD are unclear. Read More

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Autoimmune diseases after allogeneic stem cell transplantation: a clinician's guide and future outlook.

Expert Rev Clin Immunol 2022 May 12:1-14. Epub 2022 May 12.

Hematopoietic Stem Cell Unit, Department of Hematology-Oncology, IRCSS Istituto G. Gaslini I Istituto GGaslini, Genova, Italy.

Introduction: Autoimmune disease (AD) may occur after allogeneic hematopoietic stem cell transplantation (HSCT). The autoimmune mechanism seems to be related to an imbalance of the immune regulation effect of T-regulatory lymphocytes on autoreactive T-lymphocytes.

Areas Covered: ADs include hematological ADs (HADs) and nonhematologic ADs (NHADs) involving organs such as thyroid, peripheral and central nervous system, skin, liver, connective tissue, gastrointestinal tract, and kidney. Read More

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A novel case of lupus nephritis and mixed connective tissue disorder in a COVID-19 patient.

Ann Med Surg (Lond) 2022 Jun 23;78:103653. Epub 2022 Apr 23.

RCSI University of Medicine and Health Sciences, Dublin, Ireland.

Introduction: Mixed connective tissue disease (MCTD) is a rare autoimmune condition characterized by Scleroderma, Polymyositis, and Systemic Lupus Erythematous (SLE). Though a possible relationship between COVID-19 and autoimmune diseases has been recently reported, its pathophysiological mechanism behind flares in Lupus Nephritis (LN), a complication of SLE, remains unknown.

Case Presentation: A 22-year-old COVID-19 positive female presented with anemia, bilateral pitting edema, periorbital swelling, and posterior cervical lymphadenitis. Read More

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[Basophils and IgE in autoimmunity: Mechanisms and therapeutic targets].

Med Sci (Paris) 2022 Apr 29;38(4):366-373. Epub 2022 Apr 29.

Université Paris Cité, Centre de recherche sur l'inflammation, Inserm UMR1149, CNRS ERL8252, Faculté de médecine site Bichat, Paris, France - Université Paris Cité, Laboratoire d'excellence Inflamex, Paris, France.

Understanding the pathophysiology of antibody-driven autoimmune diseases (AAID) represents a major challenge for the biomedical community to develop innovative therapeutic strategies that are still lacking to control these diseases. If the reason why AAID are developing still needs to be defined, loss of tolerance to self-antigens leads to the development of an autoimmune chain reaction in some individuals. However, autoreactive antibodies are present in a large proportion of the general population without any associated pathological condition. Read More

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Case of Moxifloxacin-Induced Black Hairy Tongue.

Am J Case Rep 2022 Apr 25;23:e936235. Epub 2022 Apr 25.

Department of Infectious Diseases, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.

BACKGROUND Black hairy tongue (BHT) is a relatively uncommon acquired benign condition, with a prevalence ranging from 0.6% to 11.3%. Read More

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Connective tissue disease-related interstitial lung disease (CTD-ILD) and interstitial lung abnormality (ILA): Evolving concept of CT findings, pathology and management.

Eur J Radiol Open 2022 7;9:100419. Epub 2022 Apr 7.

Department of Radiology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine (SKKU-SOM), ChangWon, Gyeongsangnam-do, South Korea.

Connective tissue diseases (CTDs) demonstrating features of interstitial lung disease (ILD) include systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), systemic sclerosis (SSc), dermatomyositis (DM) and polymyositis (PM), ankylosing spondylitis (AS), Sjogren syndrome (SS), and mixed connective tissue disease (MCTD). On histopathology of lung biopsy in CTD-related ILDs (CTD-ILDs), multi-compartment involvement is an important clue, and when present, should bring CTD to the top of the list of etiologic differential diagnoses. Diverse histologic patterns including nonspecific interstitial pneumonia (NSIP), usual interstitial pneumonia (UIP), organizing pneumonia, apical fibrosis, diffuse alveolar damage, and lymphoid interstitial pneumonia can be seen on histology in patients with CTD-ILDs. Read More

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Collapsing Glomerulopathy in a Patient with Mixed Connective Tissue Disease.

Am J Med Sci 2022 Apr 14. Epub 2022 Apr 14.

Division of Nephrology and Hypertension, School of Medicine, Tulane University, New Orleans, LA, USA.

Collapsing glomerulopathy (CG) is a form of podocytopathy that is challenging to manage. CG can be idiopathic or associated with other conditions including autoimmune connective tissue diseases. In the setting of autoimmune connective tissue diseases, there are no current guidelines to guide therapy. Read More

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Associations between quality of health care and clinical outcomes in patients with rheumatic and musculoskeletal diseases: a rehabilitation cohort study.

BMC Musculoskelet Disord 2022 Apr 15;23(1):357. Epub 2022 Apr 15.

National Advisory Unit on Rehabilitation in Rheumatology, Division of Rheumatology and Research, Diakonhjemmet Hospital, PO Box 23, Vinderen, N-0319, Oslo, Norway.

Background: The quality of provided health care may be an important source of variation in rehabilitation outcomes, increasing the interest in associations between quality indicators (QIs) and improved patient outcomes. Therefore, we examined the associations between the quality of rehabilitation processes and subsequent clinical outcomes among patients with rheumatic and musculoskeletal diseases (RMDs).

Methods: In this multicentre prospective cohort study, adults with RMDs undergoing multidisciplinary rehabilitation at eight participating centres reported the quality of rehabilitation after 2 months and outcomes after 2, 7, and 12 months. Read More

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Non HCV-Related Mixed Cryoglobulinemic Vasculitis With Biopsy-Proven Renal Involvement: The Effects of Rituximab.

Front Med (Lausanne) 2022 28;9:819320. Epub 2022 Mar 28.

Nephrology and Dialysis Unit (The European Rare Kidney Disease Reference Network, The European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases, and the European Reference Network That Aims at Improving the Care of Patients With Rare Immunological Disorders), Center of Research of Immunopathology and Rare Diseases- Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley, Department of Clinical and Biological Sciences, University of Turin and S. Giovanni Bosco Hub Hospital, Turin, Italy.

In the countries where HCV infection is still endemic, about 90% of subjects with mixed cryoglobulinemia had previously been infected with HCV and about 80% are RNA positive. Remarkable results in severe HCV-related cryoglobulinemic vasculitis have been obtained with Rituximab. Details of the clinical characteristics and effective treatment of non HCV-related cryogloulinemic syndromes are presently lacking. Read More

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Fundoplication after lung transplantation in patients with systemic sclerosis-related end-stage lung disease.

J Scleroderma Relat Disord 2021 Oct 25;6(3):247-255. Epub 2021 May 25.

Department of Surgery, Section of General Thoracic Surgery, Columbia University Irving Medical Center, New York, NY, USA.

Introduction: Gastroesophageal reflux and aspiration are risk factors for chronic lung allograft dysfunction in lung transplant recipients. Patients with systemic sclerosis are at an increased risk of aspiration due to esophageal dysmotility and an ineffective lower esophageal sphincter. The aim of this study is to understand the effect of fundoplication on outcomes in systemic sclerosis recipients. Read More

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October 2021

An uncommon cause of myalgia: A case report on systemic lupus erythematous myopathy.

Ann Med Surg (Lond) 2022 Mar 2;75:103450. Epub 2022 Mar 2.

Faculty of Medicine and Health Science, Universiti Malaysia Sabah (UMS), Jalan UMS, 88400, Kota Kinabalu, Sabah, Malaysia.

Introduction: Myositis in systemic lupus erythematous may present in a wide range of clinical spectrum. It can be part of an overlap syndrome, or mixed connective tissue disease or a musculoskeletal manifestation of systemic lupus erythematous itself.

Case Presentation: Here, we present a young girl with an underlying systemic lupus erythematous presented with the typical manifestation of severe proximal myopathy in the background of normal creatine kinase values. Read More

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Long-term evaluation of pulmonary function and survival of patients with interstitial pneumonia with autoimmune features.

Clin Exp Rheumatol 2022 03 30. Epub 2022 Mar 30.

Division of Rheumatology, MedStar Georgetown University Hospital, Washington, DC, USA.

Objectives: Interstitial pneumonia with autoimmune features (IPAF) includes patients with interstitial lung disease with autoimmune features who do not meet criteria for a connective tissue disease (CTD). Previous studies showed a wide variation in the radiologic pattern, pulmonary function and prognosis but there is still limited data on longitudinal outcomes. We aim to describe the long-term pulmonary function, radiological patterns, and survival of IPAF patients and explore a classification based on CTD-like subgroups by using clinical/serologic data. Read More

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Turning walking pneumonia into recurrent abscesses: a curious case of CVID and review of the literature.

Allergy Asthma Clin Immunol 2022 Apr 5;18(1):31. Epub 2022 Apr 5.

University of Illinois College of Medicine, One Illini Drive, Peoria, IL, 61605, USA.

Background: Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder associated with a broad symptom presentation that is still being characterized. We report a rare case of recurrent mycoplasma skin abscesses in a patient with a history of autoimmune disorders and prolonged mycoplasma pneumonia who was diagnosed with CVID.

Case Presentation: A 34-year-old woman presented with a history of recurrent abscesses previously confirmed positive for Mycoplasma pneumoniae. Read More

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Evaluation of the European League Against Rheumatism/American College of Rheumatology-2019 classification criteria in patients with childhood-onset systemic lupus erythematosus: a single-center retrospective study.

Clin Rheumatol 2022 Apr 4. Epub 2022 Apr 4.

Department of Infection and Immunology, Aichi Children's Health and Medical Center, 7-426 Morioka-cho, Obu, Aichi, 474-8710, Japan.

This study aimed to compare the sensitivity and specificity of the European League Against Rheumatism/American College of Rheumatology-2019 (EULAR/ACR-2019) classification criteria with prior classification schemes for patients with childhood-onset systemic lupus erythematosus (cSLE). This single-center retrospective study examined 53 patients with cSLE and 53 patients having antinuclear antibody (ANA) titers ≥ 1:80 but not cSLE as controls. Sensitivity and specificity were calculated for the EULAR/ACR-2019 criteria, original criteria reported earlier in 2019, the ACR-1997 criteria, and the Systemic Lupus International Collaborating Clinics-2012 (SLICC-2012) criteria. Read More

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Capillaroscopic analysis of the microvascular status in mixed versus undifferentiated connective tissue disease.

Microvasc Res 2022 Mar 29;142:104367. Epub 2022 Mar 29.

Laboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Specialties (DiMI), University of Genova, IRCCS San Martino Polyclinic, Genoa, Italy. Electronic address:

Introduction: Raynaud phenomenon (RP), typically, precede the clinical onset of systemic manifestations in several connective tissue diseases (CTDs). These autoimmune disorders usually share a microvascular damage whose alterations can be detected by nailfold videocapillaroscopy (NVC). The aim of the study was to compare the NVC microvascular status in Mixed Connective Tissue Disease (MCTD) versus the Undifferentiated Connective Tissue Disease (UCTD), and to search correlations between NVC findings and specific autoantibodies in UCTD patients. Read More

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Off-label use of mycophenolate mofetil in the treatment of rare and complex rheumatic connective tissue diseases.

Clin Exp Rheumatol 2022 May 11;40 Suppl 134(5):32-39. Epub 2022 Mar 11.

Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon Academic Medical Centre, Lisbon, and Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

Objectives: We aimed to investigate the clinical off-label use of mycophenolate mofetil (MMF), including its safety and efficacy in patients with rare and complex rheumatic connective tissue diseases (rCTDs).

Methods: A survey was distributed across experts from ERN-ReCONNET reference centres in order to assess the experience with MMF off-label use. Patient-level data of patients with rCTDs under treatment with MMF was also collected for analysis of safety and efficacy. Read More

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Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review.

Clin Exp Rheumatol 2022 May 28;40 Suppl 134(5):40-45. Epub 2022 Mar 28.

Policlinic and Hiller Research Unit for Rheumatology, ERN-ReCONNET member, University Clinic Duesseldorf, Heinrich-Heine-University Duesseldorf, Germany.

Objectives: To perform a systematic literature review (SLR) on the association of common variable immunodeficiency (CVID) and rare and complex connective tissue and musculoskeletal diseases, namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), idiopathic inflammatory myopathies (IIM), systemic sclerosis (SSc), relapsing polychondritis, antiphospholipid syndrome, immunoglobulin (Ig) G4-related disease, as well as undifferentiated and mixed connective tissue disease.

Methods: An SLR on studies and cases about the association of CVID and rare and complex connective tissue and musculoskeletal diseases was performed. Animal studies were excluded. Read More

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Chronic relapsing neutrophilic meningitis as the sole manifestation of nocardiosis in a patient with mixed connective tissue disease.

IDCases 2022 9;28:e01473. Epub 2022 Mar 9.

Lankenau Medical Center/Main Line Health System Dept. of Infectious Disease, 100 E Lancaster Ave, Wynnewood, PA 19096, USA.

We describe a rare case of a patient with mixed connective tissue disease maintained on chronic oral corticosteroids, who was hospitalized on five occasions over five consecutive months due to persistent relapsing neutrophilic meningitis caused by . Immunosuppression due to the chronic use of corticosteroids was identified as the underlying mechanism of susceptibility. Our report highlights the challenges associated with systemic Nocardiosis, particularly in the immunocompromised host. Read More

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Outcomes of SARS-CoV-2 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases.

Ann Rheum Dis 2022 Mar 25. Epub 2022 Mar 25.

Centre for Epidemiology Versus Arthritis, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK

Objectives: Some adults with rheumatic and musculoskeletal diseases (RMDs) are at increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory syndrome of children, children and young people (CYP) are overall less prone to severe COVID-19 and most experience a mild or asymptomatic course. However, it is unknown if CYP with RMDs are more likely to have more severe COVID-19. Read More

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Atypical Presentation of Mixed Connective Tissue Disorder Involving Bilateral Diaphragm.

Cureus 2022 Feb 12;14(2):e22154. Epub 2022 Feb 12.

Department of Internal Medicine, Texas Tech University Health Science Center at Permian Basin, Odessa, USA.

Pulmonary manifestations can be present in 20-80% of patients having mixed connective tissue disorder (MCTD) and are usually subacute. MCTD when associated with polymyositis can rarely involve the diaphragm, causing respiratory failure. We present herein the case of a 49-year-old female having MCTD with a component of polymyositis who presented with bilateral diaphragmatic paralysis followed by heart failure requiring respiratory support with non-invasive mechanical ventilation. Read More

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February 2022

Effect of Levosimendan on Acute Decompensated Right Heart Failure in Patients With Connective Tissue Disease-Associated Pulmonary Arterial Hypertension.

Front Med (Lausanne) 2022 4;9:778620. Epub 2022 Mar 4.

Department of Cardiology, 1st Affiliated Hospital of Harbin Medical University, Harbin, China.

Aims: Acute decompensated right heart failure (RHF) in chronic precapillary pulmonary hypertension is often typified by a swiftly progressive syndrome involving systemic congestion. This results from the impairment of the right ventricular filling and/or a reduction in the flow output of the right ventricle, which has been linked to a dismal prognosis of short duration. Despite this, there are limited therapeutic data regarding these acute incidents. Read More

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Nailfold microvascular abnormalities are associated with a higher prevalence of pulmonary arterial hypertension in patients with MCTD.

Rheumatology (Oxford) 2022 Mar 14. Epub 2022 Mar 14.

First Department of Internal Medicine, University of Occupational and Environmental Health, Japan.

Objective: Mixed connective tissue disease (MCTD) manifests with microvasculopathy and overlapping clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and idiopathic inflammatory myopathies (IIM). The aim of this study was to investigate the clinical significance of microvasculopathy in patients with MCTD using nailfold videocapillaroscopy (NVC).

Methods: Fifty patients with newly diagnosed and untreated MCTD were enrolled in this multicentre, prospective, and observational study. Read More

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A Case of Mixed Connective Tissue Disease Complicated by Pulmonary Hypertension and Ascites After Addition of Pulmonary Vasodilators.

Mod Rheumatol Case Rep 2022 Mar 11. Epub 2022 Mar 11.

The First department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.

We present the case of a 54-year-old woman with a long history of pulmonary hypertension (PH) associated with mixed connective tissue disease (MCTD). She was being treated with pulmonary vasodilators, including epoprostenol and bosetan, but her mean pulmonary arterial pressure (mPAP) gradually worsened. Although her mPAP began to improve with adding sildenafil, ascites occurred. Read More

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Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation.

Intractable Rare Dis Res 2022 Feb;11(1):7-14

Department of Internal Medicine II, Cardiology, Pneumology and Angiology, University Hospital Bonn, Bonn, Germany.

Pseudoxanthoma elasticum (PXE) is a rare, heritable disease caused by various, mainly recessively transmitted mutations in the gene. Due to calcification of soft connective tissue phenotypic hallmarks are progressive loss of vision, alternation of the skin and early onset atherosclerosis. Beside these main features patients also suffer from impaired alveolar diffusion. Read More

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February 2022

Erratum to "A Rare Case of Fatal Hemorrhagic Stroke in a Young Female with Early Mixed Connective Tissue Disease".

Case Rep Rheumatol 2022 23;2022:9762151. Epub 2022 Feb 23.

Department of Psychiatry, University of Hawai'i, John A. Burns School of Medicine, Honolulu, HI, USA.

[This corrects the article DOI: 10.1155/2021/5321438.]. Read More

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February 2022

Clinical Relevance of Liver Involvement in the Clinical Course of Systemic Sclerosis.

J Clin Med 2022 Feb 12;11(4). Epub 2022 Feb 12.

Department of Translational Medicine, Università del Piemonte Orientale (UPO), 28100 Novara, Italy.

Liver involvement in systemic sclerosis (SSc) is rare. We evaluated the prevalence of liver fibrosis and hepatic autoimmunity in SSc patients in a retrospective observational cohort (97 SSc or mixed connective tissue disease with sclerodermic manifestations patients undergoing transient elastography, evaluating liver stiffness (LS) and controlled attenuation parameter (CAP), due to clinical indications along with biochemistry assessments and major antibodies associated to liver autoimmunity). Among them, 11 had LS ≥ 7. Read More

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February 2022

A typical presentation of type B insulin resistance syndrome with isolated hypoglycaemia and suppressed insulin.

BMJ Case Rep 2022 Feb 19;15(2). Epub 2022 Feb 19.

Univ Auckland, Hamilton, New Zealand.

Type B insulin resistance syndrome is a rare autoimmune disorder affecting glucose homeostasis characterised by the presence of serum autoantibodies to the insulin receptor. Typically, these patients present with severe insulin resistance although a mixed hyperglycaemic and hypoglycaemic phenotype may also occur, as can an exceptionally rare isolated hypoglycaemia presentation. The classic biochemical pattern comprises elevated insulin levels despite significant hypoglycaemia. Read More

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February 2022