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https://www.readbyqxmd.com/read/28088339/evidence-based-management-of-systemic-sclerosis-navigating-recommendations-and-guidelines
#1
REVIEW
Russell Edward Pellar, Janet Elizabeth Pope
OBJECTIVES: Systemic sclerosis (SSc) is a rare heterogeneous connective tissue disease. Recommendations addressing the major issues in the management of SSc including screening and treatment of organ complications are needed. METHODS: The updated European League Against Rheumatism/European Scleroderma Trial and Research (EULAR/EUSTAR) and the British Society of Rheumatology (BSR) and British Health Professionals in Rheumatology (BHPR) guidelines were compared and contrasted...
December 9, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28070764/serum-25-oh-vitamin-d-levels-in-systemic-sclerosis-analysis-of-140-patients-and-review-of-the-literature
#2
Dilia Giuggioli, M Colaci, G Cassone, P Fallahi, F Lumetti, A Spinella, F Campomori, A Manfredi, C U Manzini, A Antonelli, C Ferri
Hypovitaminosis D is increasingly reported in autoimmune diseases. We investigated the 25-OH-vitamin D (25-OH-vitD) levels in systemic sclerosis (SSc) patients, in correlation with disease's features. We measured the 25-OH-vitD serum levels in 140 consecutive patients (F/M 126/15; mean age 61 ± 15.1 years), 91 without (group A) and 49 with (group B) 25-OH-cholecalciferol supplementation. Patients of group A invariably showed low 25-OH-vitD levels (9.8 ± 4.1 ng/ml vs. 26 ± 8.1 ng/ml of group B); in particular, 88/91 (97%) patients showed vitamin D deficiency (<20 ng/ml), with very low vitamin D levels (<10 ng/ml) in 40 (44%) subjects...
January 9, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28058540/juvenile-dermatomyositis-a-tertiary-center-experience
#3
Kenan Barut, Pinar Ozge Avar Aydin, Amra Adrovic, Sezgin Sahin, Ozgur Kasapcopur
Juvenile dermatomyositis (JDM) is a rare chronic inflammatory disease of unknown etiology and primarily involves muscle and skin. It is the most common idiopathic inflammatory myopathy of childhood. This study aimed to evaluate demographic and clinical features, laboratory data, treatment modalities, and outcome of patients with JDM at a referral pediatric rheumatology center in Turkey. We retrospectively reviewed medical records of patients diagnosed with JDM between the years 2003-2016 at the Pediatric Rheumatology Department Cerrahpasa Medical Faculty...
January 5, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28056476/-advanced-systemic-sclerosis-endovascular-reconstruction-of-the-aortic-bifurcation-for-limb-salvage
#4
Florian Stein, Lars Kamper, Konstantinos Meletiadis, Ulrich Kusenack, Patrick Haage
History and admission findings A 69-year-old patient was initially hospitalized because of a 1.5 cm ulceration at the back of the right foot which had existed for the last year and become increasingly swollen and painful. Medical history revealed PmScl-positive systemic sclerosis presenting with a massive calcinosis cutis, advanced pulmonary fibrosis and peripheral artery disease. Examinations Inflammatory markers were normal. MR-Angiography of the lower extremities revealed a multi-segmental high-grade stenosis of the aortic bifurcation due to extensively calcified plaques...
January 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28042884/pharmacokinetics-of-the-antimicrobial-drug-sulfanilamide-is-altered-in-a-preclinical-model-of-vascular-calcification
#5
Anabel Brandoni, Adriana Mónica Torres
In vascular smooth muscle, calcium overload is linked to advancing age. The pharmacokinetics of sulfanilamide (SA), a compound with antibacterial properties, was evaluated in a preclinical model of vascular calcification. SA was used since it is useful to study possible modifications in the renal and hepatic management of drugs. Vascular calcification was induced by administration of a single high dose of vitamin D3 to rats (treated group) 10 days before the experiments. A parallel control group was processed...
January 2, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28039508/rothmund-thomson-syndrome-and-osteoma-cutis-in-a-patient-previously-diagnosed-as-cops-syndrome
#6
M C van Rij, M L Grijsen, N M Appelman-Dijkstra, K B M Hansson, C A L Ruivenkamp, K Mulder, R van Doorn, A P Oranje, S G Kant
: We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS)...
December 30, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28018840/hand-impairment-in-systemic-sclerosis-various-manifestations-and-currently-available-treatment
#7
Amber Young, Rajaie Namas, Carole Dodge, Dinesh Khanna
Systemic sclerosis (SSc) is an autoimmune disease initially recognized by hand involvement due to characteristic Raynaud's phenomenon (RP), puffy hands, skin thickening, and contractures resembling claw deformities. SSc contributes to hand impairment through inflammatory arthritis, joint contractures, tendon friction rubs (TFRs), RP, digital ulcers (DU), puffy hands, skin sclerosis, acro-osteolysis, and calcinosis. These manifestations, which often co-exist, can contribute to difficulty with occupational activities and activities of daily living (ADL), which can result in impaired quality of life...
September 2016: Current Treatment Options in Rheumatology
https://www.readbyqxmd.com/read/28017514/acro-osteolysis-and-calcinosis-in-patient-with-scleroderma-a-case-report
#8
Wan-Sun Choi, So-Yeon Park, Yoon-Seong Ban, Joo-Hak Kim
Acro-osteolysis is a rare disease characterized by bone resorption involving the distal phalanges of the hand. We present a unique case of progressive acro-osteolysis of the distal phalanges and articular calcifications in a patient with scleroderma. The calcified deposit in a proximal interphalangeal joint was excised under local anesthesia. The medical treatment was arranged under the supervision of a rheumatologist.
December 22, 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/28012693/tumoral-calcinosis-of-the-cervical-spine-in-a-dialysis-patient-case-report-and-review-of-the-literature
#9
Krzysztof Zapałowicz, Bartłomiej Stasiów, Monika Ciupińska-Kajor, Wojciech Piwowarski
The authors present a case of tumoral calcinosis (TC) in a patient with chronic renal insufficiency. The clinical course, imaging features and microscopic findings are detailed. A 60-year-old woman with a 4-year history of hemodialysis presented with a painful mass in the right posterior cervical triangle. The neuroimaging revealed polycystic mass bulging from the C3-C5 facet joints and lamina on the right. The majority of cystic mass was excised and microscopic features of the specimen were consistent with TC...
December 14, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28010889/nail-involvement-in-systemic-sclerosis
#10
Isabelle Marie, Vincent Gremain, Kladoum Nassermadji, Laetitia Richard, Pascal Joly, Jean-François Menard, Hervé Levesque
BACKGROUND: Nail involvement has rarely been recognized in systemic sclerosis (SSc). Indeed, only a few small series have assessed nail changes in SSc, most of which are case reports. OBJECTIVE: The aims of the current case-control study were to: (1) determine the prevalence of fingernail changes in SSc; and (2) evaluate the correlation between fingernail changes and other features of SSc. METHODS: In all, 129 patients with SSc and 80 healthy control subjects underwent routine fingernail examination...
December 20, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28005411/a-mutation-in-the-dmp1-gene-alters-phosphate-responsiveness-in-mice
#11
Shoji Ichikawa, Rita Gerard-O'Riley, Dena Acton, Amie K McQueen, Isabel E Strobel, Phillip C Witcher, Jian Q Feng, Michael J Econs
Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of a phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Previously, we demonstrated that a Phex mutation in mice creates a lower set point for extracellular phosphate, where an increment in phosphorus further stimulates Fgf23 production to maintain low serum phosphorus levels...
December 22, 2016: Endocrinology
https://www.readbyqxmd.com/read/28002595/matrix-metalloproteinase-gene-polymorphisms-and-susceptibility-to-systemic-sclerosis
#12
T F Rech, S B C Moraes, M Bredemeier, J de Paoli, J C T Brenol, R M Xavier, J A B Chies, D Simon
The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influence gene expression, resulting in an imbalance between ECM protein production and degradation. Here, we analyzed MMP1 -1607 1G/2G (rs1799750), MMP3 -1171 5A/6A (rs3025058), and MMP9 -1562 C/T (rs3918242) polymorphisms in relation to susceptibility to SSc and its clinical features...
December 19, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27968927/autoimmune-collagen-vascular-diseases-kids-are-not-just-little-people
#13
Sean Timpane, Heather Brandling-Bennett, Arni K Kristjansson
Morphea, dermatomyositis (DM), and discoid lupus erythematosus (DLE) are autoimmune collagen vascular diseases that can present at any age. In all three of these diseases, the tenants of diagnosis and treatment are largely the same in both children and adults, with a few notable differences. Children with morphea are more likely to present with the linear subtype and have a higher incidence of extracutaneous manifestations. Children often need early aggressive systemic treatment to try to prevent long-term sequelae of morphea...
November 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/27955821/intravenous-sodium-thiosulfate-for-treating-tumoral-calcinosis-associated-with-systemic-disorders-report-of-four-cases
#14
Arthur Mageau, Vincent Guigonis, Voa Ratzimbasafy, Thomas Bardin, Pascal Richette, Pablo Urena, Hang-Korng Ea
Intravenous sodium thiosulfate (ivSTS) is a promising new therapeutic option for calciphylaxis related to end-stage renal disease. However, its effect on tumoral calcinosis (TC) complicating autoimmune connective-tissue diseases has been scarcely described. We report here 4 cases (3 adults and 1 child) of TC treated with ivSTS. TC was secondary to CREST syndrome, dermatomyositis (1 adult and 1 child) and systemic erythematous lupus and involved multiple sites in all cases. In all 4 patients, TC was responsible for joint pain, reduced mobility, inflammatory flares and skin fistulations...
December 7, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27934625/ultrasonographic-findings-in-two-sheep-with-enzootic-calcinosis
#15
U Braun, K Mitchell, S Schramm, S Nogler, J Hatt, A Malbon
This report describes 2 sheep with enzootic calcinosis characterized by abnormal cardiovascular and respiratory findings and ascites causing abdominal distension. Both sheep were anorexic and listless and had increased heart and respiratory rates. Auscultation of the heart revealed a gallop rhythm in sheep 1 and a loud systolic heart murmur in sheep 2. The activities of liver enzymes were severely increased in both sheep. Abdominal ultrasonography showed severe ascites and congestion of the liver and caudal vena cava...
December 2016: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/27920100/scrotal-calcinosis
#16
Takuya Miyagawa, Takafumi Kadono
No abstract text is available yet for this article.
December 4, 2016: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27908312/calcinosis-in-poly-dermatomyositis-clinical-and-laboratory-predictors-and-treatment-options
#17
Micaela Fredi, Francesca Bartoli, Ilaria Cavazzana, Angela Cerebelli, Nice Carabellese, Angela Tincani, Minoru Satoh, Franco Franceschini
OBJECTIVES: We aimed to identify the possible clinical and laboratory predictors of calcinosis in a cohort of patients with a diagnosis of polymyositis (PM) and dermatomyositis (DM). METHODS: We carried out a retrospective analysis of a cohort of myositis patients attending our clinic between January 2013 and May 2014. RESULTS: 74 patients (58 females, 16 males) with PM (30 cases), DM (30 cases), overlap syndrome (13 cases) and inclusion body myositis (1 case) were enrolled...
November 14, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27867679/identification-of-two-novel-mutations-in-the-galnt3-gene-in-a-chinese-family-with-hyperphosphatemic-familial-tumoral-calcinosis
#18
Lihao Sun, Lin Zhao, Lianjun Du, Peipei Zhang, Minjia Zhang, Min Li, Tingting Liu, Lei Ye, Bei Tao, Hongyan Zhao, Jianmin Liu, Xiaoyi Ding
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of 1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 or KL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC. Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotype relationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretation of the genetic information used for prenatal diagnosis and genetic counseling...
2016: Bone Research
https://www.readbyqxmd.com/read/27862397/multiple-calcifying-pseudoneoplasms-of-the-neuraxis-mcapnon-distinct-entity-capnon-variant-or-old-neurocysticercosis
#19
Maram Abdaljaleel, Rajarshi Mazumder, Chirag B Patel, Kyuseok Im, Whitney Pope, Linda M Liau, Harry V Vinters, William H Yong
We report a case of multiple calcifying pseudoneoplasms of the neuraxis (MCAPNON) with associated multifocal perivascular microcalcifications and vascular calcinosis. Calcifying pseudoneoplasm of the neuraxis (CAPNON) is a very rare condition that may arise in extra-axial and occasionally, in intra-axial locations. Moreover, it is nearly always a solitary mass with only one case with two lesions reported. While the etiology and pathogenesis of CAPNON remains unclear, the histopathology findings of this entity have been well described...
November 10, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27835954/characteristics-and-outcome-of-children-with-juvenile-dermatomyositis-in-cape-town-a-cross-sectional-study
#20
Lawrence Owino Okong'o, Monika Esser, Jo Wilmshurst, Christiaan Scott
BACKGROUND: Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory childhood myopathy of uncertain aetiology. The demographic and clinical presentation of JDM may differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. METHODS: We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004 and 2013 in three hospitals in Cape Town, South Africa...
November 11, 2016: Pediatric Rheumatology Online Journal
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