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https://www.readbyqxmd.com/read/28585220/inherited-arterial-calcification-syndromes-etiologies-and-treatment-concepts
#1
REVIEW
Yvonne Nitschke, Frank Rutsch
PURPOSE OF REVIEW: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease. RECENT FINDINGS: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC...
June 5, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28576700/tumoral-calcinosis-diffuse-multifocal-form-in-hemodialysis-patients-two-case-reports
#2
D Ibrahim Montasser, J Issouani, Mohamed Hassani, D Kabbaj
Orthopedic surgeons are often consulted for diagnosis of MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome, imaging showing periarticular calcification, or joint stiffness. Such presentations in a dialyzed patient should suggest tumoral calcinosis, which is a rare complication of dialysis, often diagnosed wrongly or late. It is often associated with calcium phosphate balance disorder, in which treatment is difficult and must take account of known contributing factors: severe hyperparathyroidism, increased phosphocalcic product, therapeutic calcium and vitamin D overload, and bone turnover slowed for varying reasons...
May 30, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28564698/intralesional-sodium-thiosulfate-treatment-for-calcinosis-cutis-in-the-setting-of-lupus-panniculitis
#3
Nicole S Gunasekera, Lia E Gracey Maniar, Cecilia Lezcano, Alvaro C Laga, Joseph F Merola
No abstract text is available yet for this article.
May 31, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28430707/subepidermal-calcinosis-in-the-ocular-adnexa-a-systematic-review
#4
Kay T Khine, Dallas S Shi, Ashlie Bernhisel, Kevin R Gertsch, Nick Mamalis, Bhupendra C K Patel, Jonathan J Dutton
PURPOSE: To review the clinical and histopathologic findings associated with subepidermal calcinosis of the eyelids. METHODS: A systematic review of the literature on subepidermal calcinosis of the eyelids was performed. Cases included were idiopathic in nature and met the histologic criteria for subepidermal calcinosis with calcium deposits in the dermis of the skin. RESULTS: Twenty-one publications presenting 53 cases of subepidermal calcinosis involving the eyelids were published between 1970 and 2016...
April 20, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28406134/tracheobroncopathia-osteochondroplastica-three-case-reports-with-literature-review
#5
T Aktas, F Aktas, Z Ozmen, N Yaşayancan, A Arıcı
Tracheobroncopathia osteochondroplastica (TO) is a benign disease of the large airways seen very rarely. It is characterized by 1-3 mm sized ossified nodular lesions in submucosa. Its etiology is unclear, but it is stated that malignancy, chronic inflammation, amyloidosis, and genetic factors might have an effect on it. It was first described by Wilks in a 38-year-old man diagnosed with tuberculosis in 1857. Generally, patients are asymptomatic and TO is diagnosed incidentally. But symptoms become significant with infections and obstruction in tracheabronchial tree...
April 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28382733/iatrogenic-calcinosis-cutis-successfully-treated-with-topical-sodium-thiosulfate
#6
Emilio García-García, Rocío López-López, Concepción Álvarez-Del-Vayo, José Bernabeu-Wittel
Calcinosis cutis is a term used to describe a group of disorders in which calcium salt deposits form in the skin and subcutaneous tissue. We report a 6-year-old boy with hypoparathyroidism after thyroidectomy who was admitted to the hospital for severe hypocalcemia being treated with calcium gluconate intravenous infusion through peripheral veins. Within a few days we made a diagnosis of iatrogenic calcinosis cutis and treatment with 10% topical sodium thiosulfate was prescribed; complete resolution of lesions was achieved after 6 months, with no local or systemic adverse effects...
April 6, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28251541/profile-of-pediatric-idiopathic-inflammatory-myopathies-from-a-tertiary-care-center-of-eastern-india
#7
Sumantra Sarkar, Tanushree Mondal, Arpan Saha, Rakesh Mondal, Supratim Datta
OBJECTIVES: To report data on Idiopathic inflammatory myopathies (IIM) from eastern India. METHODS: All IIM patients diagnosed over the last 5 y (2011-2016) were included through a retrospective review of records from the hospital and specialty clinic at Institute of Postgraduate Medical Education & Research (I.P.G.M.E.&R.), Kolkata. RESULTS: Out of the 11 IIM patients, 9 had Juvenile dermatomyositis (JDM) and 2 had overlap myositis (OM) [with systemic lupus erythematosus (SLE) and scleroderma]...
April 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28186471/tumoral-calcinosis-of-the-craniovertebral-junction-as-a-cause-of-dysphagia-with-treatment-by-transoral-decompression-case-report
#8
Michael A Mooney, Mark E Oppenlander, U Kumar Kakarla, Nicholas Theodore
Tumoral calcinosis is characterized by tumor-like deposition of calcium in periarticular soft tissue. Spinal involvement is rare, and perioperative diagnosis of tumoral calcinosis can be difficult because lesions may be confused with bony neoplasms. Symptoms of tumoral calcinosis result from bony involvement and/or direct compression of surrounding anatomical structures, for which treatment with surgical decompression can be highly successful. The craniovertebral junction is rarely affected by tumoral calcinosis, and patients with this condition may present with distinct symptoms...
May 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28133992/the-family-impact-of-caring-for-a-child-with-juvenile-dermatomyositis
#9
Samantha Kountz-Edwards, Christa Aoki, Caitlin Gannon, Rowena Gomez, Matthew Cordova, Wendy Packman
Background Juvenile dermatomyositis (JDM), a rare autoimmune disease, accounts for more than 80% of idiopathic inflammatory myopathy childhood cases, making it the most common idiopathic inflammatory myopathy among children. The average age of onset is approximately 7 years and commonly leads a chronic course. Symptoms of JDM include cutaneous features (Gottron's rash, heliotrope rash, or nail fold capillary changes), musculoskeletal features, calcinosis and lipodystrophy (a symmetrical deficit of subcutaneous fatty tissue), and acanthosis (thickening of the skin)...
January 1, 2017: Chronic Illness
https://www.readbyqxmd.com/read/28116278/calcinosis-cutis-circumscripta-of-knee-a-rare-presentation
#10
Vikram V Kadu, K A Saindane, Ninad Godghate, Neha Godghate
INTRODUCTION: Calcinosis circumscripta is a form of ectopic mineralization characterized by single or multiple cutaneous nodules containing calcium salts. Calcinosis cutis circumscripta is a very rare form of idiopathic calcinosis cutis arising in the second half oflife. It typically involves the extremities and is associated with prior trauma and scleroderma. We dealt with a very rare form of calcinosis cutis circumscripta in a healthy patient, for whom surgical excision revealed to be an effective and successful treatment...
July 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28088339/evidence-based-management-of-systemic-sclerosis-navigating-recommendations-and-guidelines
#11
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...
June 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28058540/juvenile-dermatomyositis-a-tertiary-center-experience
#12
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...
February 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28056476/-advanced-systemic-sclerosis-endovascular-reconstruction-of-the-aortic-bifurcation-for-limb-salvage
#13
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/28018840/hand-impairment-in-systemic-sclerosis-various-manifestations-and-currently-available-treatment
#14
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
#15
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.
January 2017: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27968927/autoimmune-collagen-vascular-diseases-kids-are-not-just-little-people
#16
COMPARATIVE STUDY
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
#17
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...
May 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27908312/calcinosis-in-poly-dermatomyositis-clinical-and-laboratory-predictors-and-treatment-options
#18
Micaela Fredi, Francesca Bartoli, Ilaria Cavazzana, Angela Ceribelli, 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...
March 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27835954/characteristics-and-outcome-of-children-with-juvenile-dermatomyositis-in-cape-town-a-cross-sectional-study
#19
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/27833984/a-case-of-a-generalized-symptomatic-calcinosis-in-systemic-sclerosis
#20
Cristian Radu Jecan, Ştefan Iulian Bedereag, Ruxandra Diana Sinescu, Valentin Titus Grigorean, Cristina Nicoleta Cozma, Anca Bordianu, Ioan Petre Florescu
Calcinosis consists of abnormal calcium deposition in soft tissues, which appears often in patients with limited systemic sclerosis, being one of the criteria of CREST (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome. With a long evolution, the aim of the treatment is to control the symptoms and prevent complications. In this article, we present the challenging management of a profuse lesion of calcinosis in a patient with systemic sclerosis. We describe the case of a 52-year-old woman with systemic sclerosis and CREST syndrome who was admitted in our Department with multiple painful and disabling tumoral masses, situated in nearly all joints...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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