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Tumorous calcinosis

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https://www.readbyqxmd.com/read/29594503/hyperphosphatemic-tumoral-calcinosis-caused-by-fgf23-compound-heterozygous-mutations-what-are-the-therapeutic-options-for-a-better-control-of-phosphatemia
#1
Debora Claramunt-Taberner, Aurélia Bertholet-Thomas, Marie-Christine Carlier, Frédérique Dijoud, Franck Chotel, Caroline Silve, Justine Bacchetta
BACKGROUND: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes encoding FGF23 or its regulators, and leading to functional deficiency or resistance to fibroblast growth factor 23 (FGF23). Subsequent biochemical features include hyperphosphatemia due to increased renal phosphate reabsorption, and increased or inappropriately normal 1,25-dihydroxyvitamin D (1,25-D) levels. CASE-DIAGNOSIS/TREATMENT: A 15-year-old girl was referred for a 1...
March 28, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29548779/dialysis-as-a-treatment-option-for-a-patient-with-normal-kidney-function-and-familial-tumoral-calcinosis-due-to-a-compound-heterozygous-fgf23-mutation
#2
Patrícia T Goldenstein, Precil D Neves, Bruno E Balbo, Rosilene M Elias, Alexandre C Pereira, Luiz F Onuchic, Harald Jüppner, Vanda Jorgetti, Hugo Abensur, Rosa Maria Moysés
Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia (phosphate, 9.0 mg/dL) and normocalcemia (calcium, 4.8 mg/dL), with normal kidney function and fractional excretion of phosphate of 3%...
March 14, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29486700/spontaneous-and-experimentally-induced-pathologies-in-the-naked-mole-rat-heterocephalus-glaber
#3
REVIEW
V N Manskikh, O A Averina, A I Nikiforova
The naked mole rat (Heterocephalus glaber, Rüppell, 1842) is a unique eusocial rodent with unusually long lifespan. Therefore, the study of spontaneous and experimentally induced pathologies in these animals is one of the most important tasks of gerontology. Various infections, noninfectious pathologies (including age-dependent changes), and tumors have been described in the naked mole rat. The most frequent pathologies are traumas (bite wounds), purulent and septic complications of traumatic injuries, renal tubular calcinosis, chronic progressive nephropathy, hepatic hemosiderosis, testicular interstitial cell hyperplasia, calcinosis cutis, cardiomyopathy, and dysbiosis-related infectious lesions of the digestive system...
December 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29314220/histopathology-of-synovial-cysts-of-the-spine
#4
Ivan Chebib, Connie Y Chang, Joseph H Schwab, Darcy A Kerr, Vikram Deshpande, G Petur Nielsen
AIMS: Cystic lesions derived from the synovial and ligamentous structures of the spine have varied histological appearances. Not uncommonly, there is discrepancy between the clinicoradiological diagnosis and histology. Therefore, we sought to characterise the histological features of tissue submitted as 'synovial cysts' of the spine. METHODS AND RESULTS: Resected specimens of the spine labelled 'synovial cysts' and 'lumbar cysts' were histologically evaluated and classified on the basis of histopathological features...
January 4, 2018: Histopathology
https://www.readbyqxmd.com/read/29287893/-tumoral-calcinoses-in-a-chronic-hemodialysis-patient-the-role-of-spect-ct-hybrid-imaging
#5
Aboubakr Matrane, Soufiane Hiroual, Mohamed Aziz Bsiss, Safa Bennani Doubli
INTRODUCTION: Tumoral calcinosis is a rare benign disease, defined by the presence of calcified deposits in periarticular tissues. It can be hereditary or secondary at chronic renal failure at the stage of dialysis. This work illustrates the contribution of single-photon emission computed tomography (SPECT/CT) in the diagnosis and management of tumoral calcinoses in a chronic hemodialysis patient, based on a clinical case. CASE REPORT: A 62-year-old patient, chronic hemodialysis since 24 years, presented a mechanical pain shoulders, knees and hips with limitation of joint mobility...
December 26, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29236066/avid-18-f-fdg-uptake-in-idiopathic-tumoral-calcinosis-mimicking-lymph-node-metastasis
#6
Jesper Strandberg, Helle D Zacho
Tumoral calcinosis is a benign condition characterized by periarticular calcified lesions that is frequently observed in patients with chronic renal failure. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. We present a case of tumoral calcinosis with dramatically increased18 F-fluoro-2-deoxy-d-glucose (18 F-FDG) uptake on positron emission tomography/computed tomography (PET/CT) that mimicked lymphoma or lymph node metastases.
December 13, 2017: Diagnostics
https://www.readbyqxmd.com/read/29123932/hyperphosphatemic-tumoral-calcinosis-after-total-knee-arthroplasty
#7
Takeshi Mochizuki, Katsunori Ikari
We report a case of hyperphosphatemic tumoral calcinosis (TC) that occurred after total knee arthroplasty. A 64-year-old Japanese man presented with painful swellings in both shoulders, the left elbow, and the right hip that developed after he underwent total knee arthroplasty (TKA). The pathology of the patient's bone at the time of TKA included a thick osteoid seam with calcareous deposition at the margin of the trabecular bone, which is not generally seen in osteoarthritis. Computed tomography scans of the swollen joints demonstrated leaflet and amorphous calcification masses around the joints...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29093022/giantin-knockout-models-reveal-a-feedback-loop-between-golgi-function-and-glycosyltransferase-expression
#8
Nicola L Stevenson, Dylan J M Bergen, Roderick E H Skinner, Erika Kague, Elizabeth Martin-Silverstone, Kate A Robson Brown, Chrissy L Hammond, David J Stephens
The Golgi is the cellular hub for complex glycosylation, controlling accurate processing of complex proteoglycans, receptors, ligands and glycolipids. Its structure and organisation are dependent on golgins, which tether cisternal membranes and incoming transport vesicles. Here, we show that knockout of the largest golgin, giantin, leads to substantial changes in gene expression but only limited effects on Golgi structure. Notably, 22 Golgi-resident glycosyltransferases, but not glycan-processing enzymes or the ER glycosylation machinery, are differentially expressed following giantin ablation...
December 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29073937/tumoral-calcinosis-in-the-cervical-spine-a-case-report-and-review-of-the-literature
#9
Rui Guo, Tatsuya Kurata, Tetsushi Kondo, Takao Imanishi, Tetsutaro Mizuno, Toshihiko Sakakibara, Yuichi Kasai
BACKGROUND: Tumoral calcinosis is rarely located in spine. A 55-year-old Japanese woman with cervical tumoral calcinosis is presented, along with a review of the literature relating to tumoral calcinosis in the spine. We discussed the etiology, diagnosis, and management of this condition. CASE PRESENTATION: We report a case of a patient with cervical tumoral calcinosis with end-stage renal disease. A computed tomography scan showed a lobulated, calcified mass around the right facet joint at the fourth-fifth cervical spine and calcifications were also observed in the right intervertebral foramens at fourth-fifth cervical spine and fifth-sixth cervical spine levels and the anterior wall of the spinal canal...
October 27, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29069247/reversal-of-uremic-tumoral-calcinosis-by-optimization-of-clinical-treatment-of-bone-and-mineral-metabolism-disorder
#10
Mariana Espiga Maioli, Vinicius Daher Alvares Delfino, Amanda Carolina Damasceno Zanuto Guerra, Luiz Fernando Kunii, Raquel Ferreira Nassar Frange
Tumoral calcinosis is an uncommon type of extraosseous calcification characterized by large rubbery or cystic masses containing calcium-phosphate deposits. The condition prevails in the periarticular tissue with preservation of osteoarticular structures. Elevated calcium-phosphorus products and severe secondary hyperparathyroidism are present in most patients with uremic tumoral calcionosis (UTC). Case report of an obese secondary to chronic glomerulonephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD) reported the appearance of painless tumors in the medial surface of fifth finger and left arm...
April 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29066642/case-of-tumoral-calcinosis-on-images-a-rare-clinicopathological-entity
#11
Harpreet Singh, Richa Handa, Zeeshan Arshad, Eric G Hoover
No abstract text is available yet for this article.
October 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29047366/the-use-of-cinacalcet-hinders-the-diagnosis-of-parathyroid-carcinoma-in-a-chronic-dialysis-patient-a-case-report
#12
Daisuke Takada, Tatsuo Tsukamoto, Miho Fuse, Shinpei Kada, Motoko Yanagita
BACKGROUND: Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving chronic dialysis therapy. Although cinacalcet can control parathyroid function and bone turnover, preventing ectopic calcification remains challenging. Cinacalcet can also suppress PTH secretion due to parathyroid carcinoma in the same way as it does for parathyroid hyperplasia in the uremic condition. We present a case of parathyroid carcinoma partially controlled by cinacalcet, in which tumorous calcinosis was successfully resolved by total parathyroidectomy...
October 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28923522/big-gain-no-pain-tumoral-calcinosis
#13
Li-An Lai, Ming-Yen Hsiao, Chueh-Hung Wu, Tyng-Guey Wang, Levent Özçakar
No abstract text is available yet for this article.
January 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/28828127/the-idiopathic-localized-tumoral-calcinosis-the-chicken-wire-radiographic-pattern
#14
Marco Di Serafino, Matilde Gioioso, Rosa Severino, Francesco Lisanti, Rosario Rocca, Paolo Sorbo, Domenico Maroscia
Tumoral calcinosis is a rare and benign hereditary tumor-like periarticular calcium deposit. It is painless and it is found commonly around large joints such as hip, shoulder and elbow. The condition predominately affects young black African patients with an equal gender ratio. In this report, a case of primary idiopathic localized tumoral calcinosis in a 22-year-old African man and its distinctive radiographic "chicken wire" pattern was described.
September 2017: Radiology Case Reports
https://www.readbyqxmd.com/read/28779847/efficacy-of-intralesional-sodium-thiosulfate-injections-for-disabling-tumoral-calcinosis-two-cases
#15
J Goossens, M Courbebaisse, E Caudron, C Bahans, V Vacquerie, J Melchior, P Vergne Salle, C Moesch, M Daudon, V Frocht, P Richette, Hang-Korng Ea, V Guigonis
INTRODUCTION: Tumoral calcinosis (TC) is a difficult-to-treat complication that can occur during several diseases such as dermatomyositis or genetic hyperphosphatemia. It is a painful and disabling condition that can lead to local complications including joint mobility reduction, cutaneous ulceration and superinfection. For the largest lesions, the treatment relies essentially on surgery. Intravenous sodium thiosulfate (STS) is efficient to treat calciphylaxis in patients undergoing hemodialysis...
December 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28764177/idiopathic-tumoral-calcinosis-rare-clinico-pathological-entity-a-report-of-two-cases
#16
Sreedevi Jakka, Radhika Narayan, Minakshi Mishra, Farah Rana, J K Laik
Tumoral calcinosis is a rare disease reported mainly in blacks of tropical and subtropical African regions. It is characterized by tumour-like periarticular deposits of calcium that are found in the regions of the hip, shoulder, elbow and small joints of hands and feet. The involvement of this disease in a healthy patient is extremely rare in young and middle aged individuals. We are presenting two cases with large, painless periarticular swellings in subscapular joint and feet. First case presented with recurrent swelling in different anatomical locations at different time intervals involving the hip and followed by shoulder joint...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28667736/infantile-tumoral-calcinosis
#17
Lavleen Singh, Amitabh Singh, Sataroopa Mishra
No abstract text is available yet for this article.
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28654465/high-velocity-paint-gun-injuries
#18
Wendi E Wohltmann, Joshua A Wisell, Celina M C Lafrades, Daniel M Cramer, Bruce D Ragsdale
Cutaneous injuries due to industrial high-pressure paint guns are well-documented in the literature; however, the histologic characteristics are uncommonly described, and facial involvement has not been previously reported. Histopathologic features of paint gun injuries vary depending on the time since injection and type of material. Early lesions display an acute neutrophilic infiltrate, edema, and thrombosis, with varying degrees of skin, fat, and muscle necrosis. More developed lesions (120-192 hours after injury) have prominent histiocytes and fibrosis around necrotic foci, possibly with the pitfall of muscle regenerative giant cells that could be mistaken for sarcoma...
August 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28626193/uremic-tumoral-calcinosis-resolved-by-improvements-in-hyperphosphatemia
#19
Hirofumi Watanabe, Ryo Koda, Noriaki Iino, Ichiei Narita
No abstract text is available yet for this article.
2017: Internal Medicine
https://www.readbyqxmd.com/read/28585220/inherited-arterial-calcification-syndromes-etiologies-and-treatment-concepts
#20
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...
August 2017: Current Osteoporosis Reports
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