Background
Systemic sclerosis (SSc) is a chronic disease characterized by autoimmunity, vasculopathy, and visceral and cutaneous fibrosis. Vitamin D has several functions in the immunological system, and different studies have suggested a potential role in triggering autoimmune diseases. Patients with SSc may present with low serum levels of vitamin D, but the association between hypovitaminosis D and disease onset or any clinical manifestation is still obscure. Our goal was to verify the causal relationship between hypovitaminosis D and SSc onset or any particular clinical manifestation in the literature.
Methods
A systematic literature review was performed through February 24th, 2021 on Pubmed, Lilacs/BIREME, and Cochrane databases. The eligible studies were read in full text, and, in the absence of exclusion criteria, were included in this review after consensus between two reviewers.
Results
Forty articles met the eligibility criteria and the main results of each study are described. In most studies, SSc patients showed a higher prevalence of vitamin D deficiency and insufficiency compared to controls. Additionally, in some reports serum levels of vitamin D were inversely correlated with the severity of SSc. Oral supplementation did not seem to affect serum levels of vitamin D. Four of the included studies were with experimental models.
Conclusion
In conclusion, vitamin D deficiency seems to have a role in susceptibility to SSc, as well as in the clinical manifestations of the disease.
A 6-0 polypropylene suture was introduced in the eye through an ophthalmic viscosurgical device syringe in a completely closed system. The procedure was used to correct optic capture of the intraocular lens by the pupil after 2 cases of Yamane technique.
ObjectiveTo describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.MethodsCase report. Retrospective data analysis.ResultsThe mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented.ConclusionWe present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases.
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