Results 91 to 100 of about 2,852,439 (245)

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

Intractable & Rare Diseases Research, 2021
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in ...
D. Dayal, Shruti Gupta, Rakesh Kumar, R. Srinivasan, B. Lorenz-Depiereux, T. Strom   +5 more
semanticscholar   +1 more source

Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome [PDF]

, 2016
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO.
Arabshahi, Bita, Brillante, Beth A., Chen, Marcus Y., Collins, Michael T., Del Rivero, Jaydira, Econs, Michael J., Gafni, Rachel I., Goldbach-Mansky, Raphaela, Gourh, Pravitt, Guthrie, Lori C., Hatab, Sarah, Heller, Theo, Ichikawa, Shoji, Jackson, Malaka B., McCarthy, Edward, Molinolo, Alfredo, Ramnitz, Mary Scott, Seo-Mayer, Patricia, White, Kenneth, Wodajo, Felasfa   +19 more
core   +1 more source

Recurrent Inflammatory State due to Severe Periarticular Calcifications in a Patient on Hemodialysis: A Case Report

Clinical Case Reports, Volume 13, Issue 2, February 2025.
ABSTRACT This report highlights a severe manifestation of chronic kidney disease‐mineral and bone disorder (CKD‐MBD) in a hemodialysis patient: periarticular calcifications causing recurrent inflammation mimicking infection. Diagnostics excluded infections and autoimmune disorders, identifying CKD‐MBD as the cause.
Janis Timsans, Mari Vilpakka, Niilo Lusila, Markku Kauppi   +3 more
wiley   +1 more source

Metastatic calcinosis cutis in a dialysis patient [PDF]

, 2023
Metastatic calcinosis cutis is an uncommon complication of end-stage kidney disease but has severe and disabling effects. Its development is attributed to disorders of calcium and phosphate metabolism associated with secondary hyperparathyroidism.
Ally, Ismail, Bapoo, Nabeel, Chothia, Mogamat-Yazied, Stead, Piers A   +3 more
core   +2 more sources

Genetic diseases of renal phosphate handling [PDF]

, 2006
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A., Rubio-Aliaga, Isabel, Biber, Jürg, Hernando, Nati   +3 more
core   +3 more sources

Muscle magnetic resonance imaging findings in patients with idiopathic inflammatory myopathies

Clinical and Experimental Neuroimmunology, Volume 16, Issue 1, Page 72-83, February 2025.
Abstract Background Idiopathic inflammatory myopathies (IIMs) are disorders that cause chronic muscle inflammation and weakness due to an autoimmune pathogenesis. Dermatomyositis (DM) is a typical IIM disorder, along with others including antisynthetic syndrome (ASS), immune‐mediated necrotizing myopathy (IMNM), overlap myositis, inclusion body ...
Tadanori Hamano, Tomoko Kamisawa, Sayaka Sanada, Kouji Hayashi   +3 more
wiley   +1 more source

Achieving Medication‐Free Remission in Patients With Juvenile Dermatomyositis

ACR Open Rheumatology, Volume 7, Issue 1, January 2025.
Objective Prognostic factors associated with medication discontinuation in children with juvenile dermatomyositis (JDM) remain largely elusive. We aim to identify the predictors of medication‐free remission (MFR) in children with JDM. Methods In this retrospective study, patients diagnosed with JDM according to Peter & Bohan criteria and followed for ...
Ilaria Maccora, Hermine I. Brunner, Amy Cassedy, Mekibib Altaye, Megan Quinlan‐Waters, Daniel J. Lovell, Alexei Grom, Sheila T. Angeles‐Han   +7 more
wiley   +1 more source

Idiopathic Tumoral Calcinosis – Rare Clinico Pathological Entity: A Report of Two Cases [PDF]

Journal of Clinical and Diagnostic Research, 2017
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 ...
Sreedevi Jakka, Radhika Narayan, Minakshi Mishra, Farah Rana, J.K.Laik   +4 more
doaj   +1 more source

Comprehensive Enteroviral Serology Links Infection and Anti‐Melanoma Differentiation‐Associated Protein 5 Dermatomyositis

ACR Open Rheumatology, Volume 7, Issue 1, January 2025.
Objective Idiopathic inflammatory myopathies (IIMs) are a group of heterogeneous, systemic autoimmune diseases characterized by specific clinical features and, frequently, skeletal muscle inflammation. Specific subtypes of IIMs can be characterized by myositis‐specific autoantibodies and are associated with distinct clinical phenotypes.
Sahana Jayaraman, Eleni Tiniakou, William R. Morgenlander, Miso Na, Lisa Christopher‐Stine, H. Benjamin Larman   +5 more
wiley   +1 more source

Wound, pressure ulcer, and burn guidelines (2023)―4: Guidelines for the management of connective tissue disease/vasculitis‐associated skin ulcers, third edition

The Journal of Dermatology, EarlyView.
Yoshihide Asano, Jun Asai, Takayuki Ishii, Yohei Iwata, Masanari Kodera, Chie Miyabe, Akihiko Uchiyama, Youichi Ogawa, Ken Okamura, Mari Kishibe, Yuta Koike, Yorihisa Kotobuki, Noriki Fujimoto, Takuya Miyagi, Yukie Yamaguchi, Ayumi Yoshizaki, Reiko Omori, Takeshi Nakanishi, Hiroshi Fujiwara, Takeo Maekawa, Sei‐ichiro Motegi, Yuichiro Yoshino, Minoru Hasegawa, Manabu Fujimoto, Takao Tachibana, Wound, Pressure Ulcer, and Burn Guidelines Drafting Committee (connective tissue disease/vasculitis group)   +27 more
wiley   +1 more source