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Cardiol Res Pract 2021 23;2021:7915890. Epub 2021 Apr 23.

Rheumatology Unit, AOU Citta' Salute e Scienza of Turin, University of Turin, Turin, Italy.

Background: Vascular damage is recognized as a diagnostic landmark in systemic sclerosis (SSc), both in its limited and diffuse subtypes. Early detection at a subclinical stage with transthoracic echocardiography (TTE) and carotid femoral pulse wave velocity (cfPWV) may be helpful in therapeutic planning and management. . Read More

Brain 2021 May 10. Epub 2021 May 10.

Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital Basel and University of Basel, Basel, Switzerland.

Quantitative MRI provides biophysical measures of the microstructural integrity of the CNS, which can be compared across CNS regions, patients, and centres. In patients with multiple sclerosis, quantitative MRI techniques such as relaxometry, myelin imaging, magnetization transfer, diffusion MRI, quantitative susceptibility mapping, and perfusion MRI, complement conventional MRI techniques by providing insight into disease mechanisms. These include: (i) presence and extent of diffuse damage in CNS tissue outside lesions (normal-appearing tissue); (ii) heterogeneity of damage and repair in focal lesions; and (iii) specific damage to CNS tissue components. Read More

J Vis Exp 2021 Apr 25(170). Epub 2021 Apr 25.

Laboratory for Molecular Cell Dynamics, Faculty of Advanced Life Science, Hokkaido University.

Protein aggregation is a hallmark of neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and so on. To detect and analyze soluble or diffuse protein oligomers or aggregates, fluorescence correlation spectroscopy (FCS), which can detect the diffusion speed and brightness of a single particle with a single molecule sensitivity, has been used. However, the proper procedure and know-how for protein aggregation detection have not been widely shared. Read More

Int J Surg Case Rep 2021 Apr 30;82:105936. Epub 2021 Apr 30.

Department of Surgery, Shiga General Hospital, Moriyama, 5-4-30 Moriyama, Moriyama, Shiga 524-8524, Japan. Electronic address:

Introduction And Importance: The most common liver malignancies are hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and metastatic tumors. Hepatocellular carcinoma and intrahepatic cholangiocarcinoma may invade the portal vein (PV). An association between diffuse large B-cell lymphoma (DLBCL) and primary biliary cholangitis (PBC) remains unclear. Read More

Br J Neurosurg 2021 May 7:1-14. Epub 2021 May 7.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

Lesions of the paediatric cranial vault are diverse both in their presentation and aetiology. As such, they pose a diagnostic challenge to the paediatric neurosurgeon and neuroradiologist. In this article, we delineate the spectrum of paediatric calvarial pathology into four distinct groups: (1) lytic lesion(s); (2) focal sclerotic lesion(s); (3) diffuse cranial vault sclerosis; and (4) abnormal shape of the cranial vault. Read More

Front Pharmacol 2021 20;12:650605. Epub 2021 Apr 20.

Laboratorio de Inmunopatología, Instituto de Biología y Medicina Experimental (IBYME), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Ciudad de Buenos Aires, Argentina.

Systemic Sclerosis (SSc) is a rheumatic disease characterized by fibrosis, microvascular damage and immune dysregulation. Two major subsets, limited cutaneous systemic sclerosis (lcSSc) and diffuse cutaneous systemic sclerosis (dcSSc) can be defined, according to the extent of skin involvement. Increasing evidence indicates a role for galectins in immune and vascular programs, extracellular matrix remodeling and fibrosis, suggesting their possible involvement in SSc. Read More

Sci Rep 2021 May 3;11(1):9424. Epub 2021 May 3.

Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, 40002, Thailand.

Systemic sclerosis (SSc) is recognized as a chronic inflammatory disease and several SSc-associated factors may increase the risk of osteoporosis and its related fractures. To determine the prevalence and predictive factors of osteoporosis in Thai SSc, a cross-sectional study was designed in adult SSc patients at Scleroderma clinic, Khon Kaen University Hospital. The prevalence of osteoporosis with the 95% confidence interval (CI) were determined and the odds ratio (OR) with 95%CI were assessed the clinical association with osteoporosis. Read More

Reumatol Clin 2021 Apr 28. Epub 2021 Apr 28.

Servicio de Inmunología, Instituto de Investigaciones Médicas «Dr. Alfredo Lanari», UBA, Ciudad Autónoma de Buenos Aires, Argentina.

Objective: To describe the frequency of anti-RNA polymerase III antibody in patients with Systemic Sclerosis (SSc) of a group of healthcare centres from Argentina and to explore differences among patients with positive and negative anti-RNA polymerase III antibody.

Patients And Methods: Data from clinical records, anamnesis and physical examination were collected from 135 patients with SSc (ACR/EULAR 2013). A serum sample from each patient was obtained for the detection of anti-RNA polymerase III IgG antibodies by ELISA. Read More

Brain Sci 2021 Apr 5;11(4). Epub 2021 Apr 5.

Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Dapi Road, Niaosung District, Kaohsiung 83301, Taiwan.

Hippocampal malrotation (HIMAL) is an increasingly recognized neuroimaging feature but the clinical correlation and significance in epilepsies remain under debate. It is characterized by rounded hippocampal shape, deep collateral, or occipitotemporal sulcus, and medial localization of the hippocampus. In this review, we describe the embryonic development of the hippocampus and HIMAL, the qualitative and quantitative diagnosis issues, and the pathological findings of HIMAL. Read More

Int J Rheum Dis 2021 Apr 28. Epub 2021 Apr 28.

Department of Rheumatology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.

Aim: Calcinosis is often observed in systemic sclerosis (SSc), but its pathogenesis remains unclear. The aim of the present study was to explore the association of clinical features with calcinosis in patients with SSc.

Methods: A retrospective cohort study was performed analyzing 416 SSc patients from our SSc database. Read More

Pediatr Rheumatol Online J 2021 Apr 26;19(1):57. Epub 2021 Apr 26.

Nephrology Unit, Pediatric Department, Tanta University, El-Geesh Street, Tanta, Egypt.

Background: Lupus podocytopathy (LP) is a renal affection described in systemic lupus erythematosus (SLE) patients with nephrotic range proteinuria, characterized by diffuse foot process effacement without immune deposits and glomerular proliferation. This study describes LP, its pathological features and outcomes of pediatric (p-SLE) patients in comparison to the usual lupus nephritis (LN) cases.

Methodology: A retrospective cohort study conducted on a 10-year registration (2010-2019) of 140 p-SLE patients at the Pediatric Department, Tanta University. Read More

Front Mol Biosci 2021 8;8:658020. Epub 2021 Apr 8.

Department of Biology, Central Michigan University, Mount Pleasant, MI, United States.

RNA-binding proteins undergo regulated phase transitions in an array of cell types. The phase separation of RNA-binding proteins, and subsequent formation of RNP condensates or granules, occurs during physiological conditions and can also be induced by stress. Some RNP granules have roles in post-transcriptionally regulating mRNAs, and mutations that prevent the condensation of RNA-binding proteins can reduce an organism's fitness. Read More

Arthritis Res Ther 2021 Apr 22;23(1):125. Epub 2021 Apr 22.

Department of Rheumatology, University Hospital Zurich, University of Zurich, Gloriastrasse 25, 8091, Zurich, Switzerland.

Background And Objectives: The University of California Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract Instrument 2.0 (UCLA GIT 2.0) is validated to capture gastrointestinal (GI) tract morbidity in patients with systemic sclerosis (SSc). Read More

Am J Med Genet A 2021 Apr 21. Epub 2021 Apr 21.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. Read More

Cureus 2021 Mar 16;13(3):e13917. Epub 2021 Mar 16.

Division of Multiple Sclerosis and Neuroimmunology, Department of Neurology, University of Texas Health Science Center at Houston, Houston, USA.

Dysembryoplastic neuroepithelial tumors (DNETs) are benign mixed glioneuronal neoplasms that frequently occur in children and young adults. We present the case of a 17-year-old male who arrived at the hospital following seizure-like activity. A magnetic resonance imaging (MRI) scan showed a 10 x 8 x 10 mm, oval-shaped, non-enhancing, well-defined mass within the right hippocampus. Read More

Sarcoidosis Vasc Diffuse Lung Dis 2021 26;38(1):e2021002. Epub 2021 Mar 26.

Division of Pulmonary, Critical Care and Sleep Medicine; University of Florida; Gainesville, FL.

Acute exacerbation of interstitial lung disease is a serious and life-threatening event but little is known about its treatment. Cyclophosphamide has been proposed in randomized clinic trials as a treatment option in progressive cases of systemic sclerosis related interstitial lung disease. However, in acute exacerbation of interstitial lung disease, we found only small case series, and retrospective studies, mostly with no comparative groups which described the role of cyclophosphamide. Read More

Acta Neuropathol 2021 Jun 17;141(6):917-927. Epub 2021 Apr 17.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany.

Systemic sclerosis represents a chronic connective tissue disease featuring fibrosis, vasculopathy and autoimmunity, affecting skin, multiple internal organs, and skeletal muscles. The vasculopathy is considered obliterative, but its pathogenesis is still poorly understood. This may partially be due to limitations of conventional transmission electron microscopy previously being conducted only in single patients. Read More

Rheumatology (Oxford) 2021 Apr 11. Epub 2021 Apr 11.

Division of Rheumatology, University of Michigan, Ann Arbor, MI USA.

Objective: Systemic sclerosis (SSc) reduces upper extremity function and performance of everyday activities; however, there are few evidence-based rehabilitation interventions. This study examined short and longer-term effects of two occupational therapy interventions on hand disability.

Methods: Participants with diffuse cutaneous SSc were randomized to one of two 18-week interventions: Intensive group, receiving 8-weekly in-person occupational therapy sessions with App-delivered home exercises, or App alone group. Read More

Am J Med Genet A 2021 Apr 10. Epub 2021 Apr 10.

Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Read More

Int J Mol Sci 2021 Mar 12;22(6). Epub 2021 Mar 12.

Clinical Center, Department of Immunology and Biotechnology, University of Pécs Medical School, H-7624 Pécs, Hungary.

B cell activation is an early event in the development of systemic sclerosis (SSc). The classical activation of B cells downstream of the B-cell receptor (BCR) involves the phosphatidylinositol-3 kinase (PI3K) pathway that integrates the effects of multiple co-stimulatory receptors. Our analysis of PI3K pathway associated molecules in peripheral blood B cells of early diffuse cutaneous SSc (dcSSc) patients showed altered mRNA expression of Toll-like receptor (TLR) homolog CD180, TLR4, complement component 3, IL-4 receptor and secreted phosphoprotein 1 (SPP1). Read More

J Hand Surg Am 2021 Mar 29. Epub 2021 Mar 29.

Department of Plastic and Reconstructive Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

Purpose: To determine whether elective calcinosis debulking surgery of the hands and/or upper extremities is a safe and effective treatment for painful symptomatic scleroderma. Our hypothesis was that calcinosis debulking surgery would result in improvement in patient-reported pain and range of motion (ROM) with relatively little postoperative surgical pain for scleroderma patients.

Methods: We performed a retrospective review of scleroderma patients who underwent elective calcinosis debulking surgery by a single surgeon between August 2014 and August 2019. Read More

Neuropediatrics 2021 Mar 31. Epub 2021 Mar 31.

Pediatric Neurology Department, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Saclay, Bicêtre Hospital, Le Kremlin Bicêtre, France.

Acquired demyelinating syndromes (ADS) are frequently associated with myelin oligodendrocytes glycoprotein (MOG) antibodies in children. Clinical phenotypes are heterogeneous and may delay the diagnosis, especially when they relapse and are atypical, mimicking diseases such as multiple sclerosis or neuromyelitis optica spectrum disorders . Here, we describe two children: one with a progressive cognitive and behavioral deterioration with seizures after only one relapse and the other with similar clinical impairments associated with multiple relapses. Read More

Pediatr Nephrol 2021 Mar 31. Epub 2021 Mar 31.

Institut Imagine, Laboratoire des maladies rénales héréditaires, INSERM UMR 1163, Université de Paris, Paris, France.

Genetic studies of hereditary nephrotic syndrome (NS) have identified more than 50 genes that, if mutated, are responsible for monogenic forms of steroid-resistant NS (SRNS), either isolated or syndromic. Most of these genes encode proteins expressed in the podocyte with various functions such as transcription factors, mitochondrial proteins, or enzymes, but mainly structural proteins of the slit diaphragm (SD) as well as cytoskeletal binding and regulator proteins. Syndromic NS is sometimes associated with neurological features. Read More

Eur J Med Res 2021 Mar 31;26(1):30. Epub 2021 Mar 31.

Department of Rheumatology and Immunology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32 The First Ring Road West 2, Chengdu, 610072, China.

Background: Systemic sclerosis (SSc) and anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) both affect the kidney and may cause renal failure. Treatment of AAV is dramatically different from that of SSc renal crisis (SRC). Kidney biopsy is not recommended for diagnosing SRC, but it is the only reliable diagnostic method for AAV. Read More

Adv Exp Med Biol 2021 ;1303:173-182

Division of Rheumatology, Department of Medicine, Albany Medical College, Albany, NY, USA.

Systemic sclerosis is a complex, often progressive, multisystem autoimmune disease. It is commonly categorized into limited cutaneous or diffuse cutaneous systemic sclerosis. There is near universal involvement of skin fibrosis and gastrointestinal dysfunction, but lung disease is not only common but also a most serious complication. Read More

Arthritis Care Res (Hoboken) 2021 Mar 30. Epub 2021 Mar 30.

Hospital Universitário Clementino Fraga Filho (HUCFF), Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

Objectives: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (jSSc) patients in the international Juvenile SSc Inception Cohort (jSScC), compare these characteristics between the classically defined diffuse (dcjSSc) and limited cutaneous (lcjSSc) subtypes, and among those with overlap features.

Methods: A cross-sectional study was performed using baseline visit data. Demographic, organ system evaluation, treatment, and patient and physician reported outcomes were extracted and summary statistics applied. Read More

Sci Rep 2021 Mar 30;11(1):7170. Epub 2021 Mar 30.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Lymphangioleiomyomatosis (LAM) is a rare destructive lung disease characterized by multiple thin-walled pulmonary cysts. The currently proposed diagnostic algorithm emphasizes the characteristic cystic appearance on high-resolution computed tomography (HRCT) so uncommon HRCT appearances present challenges to establishing the proper LAM diagnosis. The objective of this study is to accrue uncommon chest HRCT appearances, determine frequencies in both tuberous sclerosis complex (TSC)-associated LAM (TSC-LAM) and sporadic LAM (S-LAM) patients. Read More

Neurosurg Clin N Am 2021 Apr 18;32(2):181-190. Epub 2021 Feb 18.

Department of Neurosurgery, University of California Los Angeles, 300 Stein Plaza, Suite #520, Los Angeles, CA 90095, USA. Electronic address:

Next-generation sequencing of pediatric gliomas has revealed the importance of molecular genetic characterization in understanding the biology underlying these tumors and a breadth of potential therapeutic targets. Promising targeted therapies include mTOR inhibitors for subependymal giant cell astrocytomas in tuberous sclerosis, BRAF and MEK inhibitors mainly for low-grade gliomas, and MEK inhibitors for NF1-deficient BRAF:KIAA fusion tumors. Challenges in developing targeted molecular therapies include significant intratumoral and intertumoral heterogeneity, highly varied mechanisms of treatment resistance and immune escape, adequacy of tumor penetrance, and sensitivity of brain to treatment-related toxicities. Read More

Front Neurol 2021 8;12:640239. Epub 2021 Mar 8.

Department of Neurology, Goethe University, Frankfurt, Germany.

Magnetic resonance imaging (MRI) is the gold standard imaging technique for diagnosis and monitoring of many neurological diseases. However, the application of conventional MRI in clinical routine is mainly limited to the visual detection of macroscopic tissue pathology since mixed tissue contrasts depending on hardware and protocol parameters hamper its application for the assessment of subtle or diffuse impairment of the structural tissue integrity. Multiparametric quantitative (q)MRI determines tissue parameters quantitatively, enabling the detection of microstructural processes related to tissue remodeling in aging and neurological diseases. Read More

Int J Rheum Dis 2021 Apr 22;24(4):555-561. Epub 2021 Mar 22.

Rheumatology Department, Waikato District Health Board, Hamilton, New Zealand.

Background: Systemic sclerosis (SSc) has been associated with an increased risk of malignancy (especially in the skin, lung, breast, and hematological system).

Aim: To determine the risk of malignancies in our SSc cohort.

Methods: The NZ National Cancer Registry supplied details of all malignancies recorded in patients attending the Waikato Hospital Systemic Sclerosis Clinics from 2005 to 2018. Read More