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https://www.readbyqxmd.com/read/27908312/calcinosis-in-poly-dermatomyositis-clinical-and-laboratory-predictors-and-treatment-options
#1
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
#2
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
#3
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
#4
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/27834340/acro-osteolysis-calcinosis-in-scleroderma
#5
Sujith V Cherian, Elena Thampy
No abstract text is available yet for this article.
July 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27833984/a-case-of-a-generalized-symptomatic-calcinosis-in-systemic-sclerosis
#6
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
https://www.readbyqxmd.com/read/27828644/milia-like-calcinosis-cutis-in-a-girl-with-down-syndrome
#7
Berna Solak, Rabia Oztas Kara, Erdem Vargol
Milia-like idiopathic calcinosis cutis (MICC) is a very rare dermatological disorder characterized by multiple whitish to skin colored, milia-like papules, mostly found on the hands. MICC can disappear spontaneously by adulthood; therefore, its early recognition is crucial to avoiding unnecessary interventions. Herein, we present a case of MICC in a 6-year-old girl with Down syndrome.
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27796661/acro-osteolysis
#8
Anna Botou, Athanasios Bangeas, Ioannis Alexiou, Lazaros I Sakkas
Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal digital ischemia, digital calcinosis, or severe sensory neuropathy. Acro-osteolysis has been associated with a heterogeneous group of disorders, including occupational activities, infections, rheumatic disorders (systemic sclerosis, psoriatic arthritis), endocrinopathies, genetic disorders, and lysosomal storage disorders...
October 29, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27756992/iatrogenic-calcinosis-cutis-a-rare-cytological-diagnosis
#9
Gopal Krishna Sawke, Tina Rai, Nilima Sawke
Calcinosis cutis is an uncommon condition characterized by the deposition of calcium salts in the subcutaneous tissues of the body. Calcifications can also occur in a variety of other clinical settings and can be subjected to fine-needle aspiration (FNA). Since cutaneous calcific deposits may clinically mimic a tumor, it is feasible to diagnose them by FNA cytology (FNAC). We reported a case of calcinosis cutis by FNA in a 36-year-old male who presented with a solitary subcutaneous nodule in cubital fossa. Smears showed amorphous granular material consistent with calcium and occasional histiocytes...
July 2016: Journal of Cytology
https://www.readbyqxmd.com/read/27746086/radiographic-changes-of-the-distal-phalanx-tuft-of-the-hands-in-subjects-with-systemic-sclerosis-systematic-review
#10
Yojhan Edilberto Izquierdo, Enrique Calvo Páramo, Luisa María Castañeda, Sandra Viviana Gómez, Fernán Santiago Zambrano
OBJECTIVE: To determine abnormal plain radiograph findings of the distal phalanx tuft of the hand (DPTH) associated with systemic sclerosis in adults. METHODS: A systematic review was developed following the parameters of the PRISMA guidelines in databases: MEDLINE, EMBASE, BIREME, Scielo, Google Scholar and others including as primary outcomes alterations of DPTH (erosions, resorption, sclerosis and proliferation) detected by simple radiography in subjects with systemic sclerosis...
October 13, 2016: Reumatología Clinica
https://www.readbyqxmd.com/read/27738529/metastatic-calcinosis-of-aortic-valve-secondary-to-renal-failure-mimicking-infective-endocarditis
#11
Noman Ahmed Jang Khan, Masroor A Khan, Guillermo Juan Morell Chardon
End stage renal disease has a list of consequences, cardiovascular being the most common. Inefficient dialysis can cause significant deposition of calcium all over the body, including heart valves making heart function impaired. We illustrate a case of 38-year-old female with end stage renal disease on peritoneal dialysis. The patient had been complaining of pain and swelling of the right hand for the last few months and had been seen by hand surgeon and was admitted electively for the biopsy of hand lesions...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27728984/intradural-tumoral-calcinosis-of-the-foramen-magnum-region-a-case-report
#12
Hao Wang, Yuanli Zhao, Jun Yang
Tumoral calcinosis is a rare disorder characterized by tumor-like calcified masses commonly occurring in the periarticular regions of the extremities. Conversely, intradural tumoral calcinosis of the spine is extremely rare, with only two previously reported cases. To our knowledge, this is the first intradural case located in the foramen magnum region.
October 11, 2016: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/27718018/clinical-biochemical-and-radiological-characterization-of-the-calcinosis-in-a-cohort-of-mexican-patients-with-systemic-sclerosis
#13
María Pilar Cruz-Domínguez, Grettel García-Collinot, Miguel A Saavedra, Gabriela Medina, Rosa Angélica Carranza-Muleiro, Olga Lidia Vera-Lastra, Luis J Jara
Calcinosis is a frequent complication of systemic sclerosis (SSc) that is usually located in extremities but may occur across the board. The aim of our study was to identify and quantify the distribution of calcinosis in a cohort of Mexican patients with SSc and its association with clinical features and autoantibodies. A cohort of patients with SSc (2013 ACR/EULAR criteria), classified in diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) (Le Roy criteria), was studied. For their analysis, patients were allocated into those with and without calcinosis (clinical and/or radiological)...
October 7, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27703483/the-association-of-pseudohypoparathyroidism-type-ia-with-chiari-malformation-type-i-a-coincidence-or-a-common-link
#14
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27694875/gastric-mucosal-calcinosis-mimicking-malignancy
#15
Hemanta K Nayak, Shankar Mohindra, Samir Iqbal, Vivek Anand Saraswat, Vinita Agarwal, Gaurav Pande
No abstract text is available yet for this article.
October 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27693175/esophageal-abnormalities-in-juvenile-localized-scleroderma-is-it-associated-with-other-extracutaneous-manifestations
#16
Clarissa C M Valões, Glaucia V Novak, Juliana B Brunelli, Katia T Kozu, Ricardo K Toma, Clovis A Silva
OBJECTIVE: To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. METHODS: For a period of 31 years, 5,881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring...
September 17, 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27691976/nephropathies-in-the-european-captive-cheetah-acinonyx-jubatus-population
#17
Angelika Url, Verena Krutak, Anna Kübber-Heiss, Sonja Chvala-Mannsberger, Nadia Robert, Nora Dinhopl, Peter Schmidt, Chris Walzer
According to previous studies in captive cheetah ( Acinonyx jubatus ) populations, one of the most threatening diseases besides amyloidosis, myelopathy, veno occlusive disease, and gastritis, is renal failure. Contrary to captive cheetahs in North America and South Africa, morphological data concerning renal lesions in the cheetah European Endangered Species Program (EEP) are lacking. This study details the histological characterization as well as immunohistochemical and morphometrical analysis of nephropathies in 35 captive cheetahs from the EEP, which were necropsied between 1985 and 2003...
September 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/27683096/sudden-onset-of-parathyroid-hormone-independent-severe-hypercalcemia-from-reversal-of-tumoral-calcinosis-in-a-dialysis-patient
#18
Fareed B Kamar, Bikaramjit Mann, Gregory Kline
BACKGROUND: Tumoral calcinosis is a rare manifestation of extraskeletal calcification, featuring large calcified cystic masses in the periarticular regions of large joints. In chronic kidney disease (CKD), this disorder is thought to evolve through a chronically elevated calcium-phosphorus solubility product leading to calcium precipitation in soft tissue. Treating tumoral calcinosis in these patients involves interventions to lower the calcium-phosphorus product such as reduction in vitamin D therapy and intensive hemodialysis regimens...
September 29, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27682520/x-ray-diffraction-analysis-of-spontaneously-draining-calcinosis-in-scleroderma-patients
#19
V M Hsu, T Emge, N Schlesinger
OBJECTIVES: Calcium hydroxyapatite (HA) is reported to be the major constituent of soft tissue calcinosis in patients with scleroderma (systemic sclerosis, SSc). Mechanical stress and local tissue hypoxia are thought to be important in the pathogenesis of SSc calcinosis. We sought to analyse spontaneously draining material from calcinosis sites in SSc patients using X-ray diffraction (XRD). METHOD: With approval from our local Institutional Review Board (IRB), eligible SSc patients consented to submit their spontaneously draining calcinosis samples for XRD analysis...
September 28, 2016: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27677579/risk-factors-for-development-of-pulmonary-arterial-hypertension-in-australian-systemic-sclerosis-patients-results-from-a-large-multicenter-cohort-study
#20
Kathleen Morrisroe, Molla Huq, Wendy Stevens, Candice Rabusa, Susanna M Proudman, Mandana Nikpour
BACKGROUND: Pulmonary arterial hypertension (PAH) is the leading cause of mortality in patients with systemic sclerosis (SSc). We sought to determine the incidence, prevalence and risk factors for PAH development in a large Australian SSc cohort. METHODS: PAH was diagnosed on right heart catheterisation (mPAP >25 and PAWP <15 mmHg at rest). Patients with PH secondary to interstitial lung disease (ILD; defined as abnormal HRCT scan and FVC < 60 %) were excluded...
September 27, 2016: BMC Pulmonary Medicine
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