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Page 1
Calcinosis: pathophysiology and management.
Valenzuela A, Chung L. Valenzuela A, et al. Curr Opin Rheumatol. 2015 Nov;27(6):542-8. doi: 10.1097/BOR.0000000000000220. Curr Opin Rheumatol. 2015. PMID: 26352733 Review.
It affects almost one quarter of patients with SSc, and is associated with longer disease duration, digital ulcers, acroosteolysis, positive anticentromere antibody, and positive anti-PM/Scl antibody. ...Experimental diagnostic studies include ultrasonography, multidetecto …
It affects almost one quarter of patients with SSc, and is associated with longer disease duration, digital ulcers, acroosteolysis, p …
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, Cormier-Daire V. Bizaoui V, et al. Clin Genet. 2019 Oct;96(4):309-316. doi: 10.1111/cge.13591. Epub 2019 Jun 25. Clin Genet. 2019. PMID: 31237352 Review.
The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow-up. French physicians from the OSCAR network have been asked to fill out questionnaires collecting molecular and cli …
The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate …
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR. Hitzert MM, et al. Orphanet J Rare Dis. 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. Orphanet J Rare Dis. 2019. PMID: 31856865 Free PMC article.
A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.
Efstathiadou ZA, Kostoulas C, Polyzos SA, Adamidou F, Georgiou I, Kita M. Efstathiadou ZA, et al. Endocrine. 2021 Jan;71(1):208-215. doi: 10.1007/s12020-020-02446-7. Epub 2020 Aug 9. Endocrine. 2021. PMID: 32772338
All subjects bore the typical facial characteristics and acroosteolysis, while none had splenomegaly or renal defects. Zoledronate infusion led to BMD increase. ...CONCLUSIONS: Bone involvement can present with diverse severity in the same pedigree, ranging from low BMD to …
All subjects bore the typical facial characteristics and acroosteolysis, while none had splenomegaly or renal defects. Zoledronate in …
Validation of potential classification criteria for systemic sclerosis.
Johnson SR, Fransen J, Khanna D, Baron M, van den Hoogen F, Medsger TA Jr, Peschken CA, Carreira PE, Riemekasten G, Tyndall A, Matucci-Cerinic M, Pope JE. Johnson SR, et al. Arthritis Care Res (Hoboken). 2012 Mar;64(3):358-67. doi: 10.1002/acr.20684. Arthritis Care Res (Hoboken). 2012. PMID: 22052658 Free PMC article.
Reduced carbon monoxide diffusing capacity, PAH, and reduced forced vital capacity had ORs of <2. Renal crisis and digital pulp loss/acroosteolysis did not occur in SSc mimickers (OR not estimated). Empirical and expert ranking were correlated (Spearman's rho = 0.53, P …
Reduced carbon monoxide diffusing capacity, PAH, and reduced forced vital capacity had ORs of <2. Renal crisis and digital pulp loss/a …