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5.
Int J Infect Dis ; 104: 732-733, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33582367

ABSTRACT

Coronavirus 2019 (COVID-19), caused by the pathogen SARS-CoV-2, was declared a pandemic in March 2020. Recently, studies have discussed reports of patients infected with COVID-19 associated with vesicular manifestations of Herpes Zoster. The objective of this study was to compare the data from the Unified Health System (SUS) on the number of diagnoses of Herpes Zoster from March to August from 2017 to 2019, with the same period in 2020, in the five Brazilian regions (North, Northeast, Southeast, South, and Midwest). The data were extracted from the public database (DATASUS) of Brazil's Ministry of Health. The data showed an increase in the number of Herpes Zoster diagnoses over the years and the negative impact from the COVID-19 disease, revealing an average increase corresponding to an extra 10.7 cases per million inhabitants during the pandemic in all Brazilian Regions. Therefore, although the association between HZ and COVID-19 is not well established, we observed in this study an increase in HZ cases during the COVID -19 pandemic, which suggests a correlation between these diseases.


Subject(s)
COVID-19/epidemiology , Herpes Zoster/epidemiology , SARS-CoV-2 , Brazil/epidemiology , Humans
6.
Eur J Med Genet ; 61(7): 384-387, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29421602

ABSTRACT

Jalili syndrome (JS) is an autosomal recessive disease characterized by a combination of cone-rode retinal dytrophy (CRD) and amelogenesis imperfect (AI). Mutations in cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene cause JS. Here we described 2 families (3 members) affected by JS. In the first family, JS was caused by the homozygous p.Leu324Pro (c.971T > C) missense mutation and the affected patient developed both CRD and AI. In the second family, a specific combination of a compound heterozygous mutation was found - the p.Leu324Pro (c.971T > C) missense transition and the novel p.Tyr581* (c.1743C > G) nonsense mutation. The proband showed CRD and AI, but her father just developed eye alterations. Together, these findings suggest that the p.Leu324Pro mutation in homozygosis induces a complete phenotype with both CRD and AI, but in heterozygosis and in composition with the novel p.Tyr581* nonsense mutation in CNNM4 promotes variable clinical expressivity, particularly with lack of dental phenotypes. These different phenotypes could be explained by deletions affecting the proband's homologous allele, epistasia or interactions with environmental factors leading to residual activity of protein.


Subject(s)
Amelogenesis Imperfecta/genetics , Cation Transport Proteins/genetics , Retinitis Pigmentosa/genetics , Adolescent , Child , Codon, Nonsense , Cone-Rod Dystrophies , Female , Humans
7.
Int J Paediatr Dent ; 21(6): 471-5, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21623979

ABSTRACT

BACKGROUND. Primary Sjögren syndrome is a rare autoimmune disease, especially in children, mainly affecting girls (77%), and usually diagnosed around 10 years of age. Diagnosis during childhood is difficult, especially because of the diversity of the clinical presentation and difficulty obtaining reliable history data, accounting for a higher frequency of underdiagnosed cases. Differential conditions should be considered, especially the ones that promote xerostomia, such as diabetes, ectodermal dysplasia, rheumatoid arthritis, scleroderma, systemic lupus erythematosus, sarcoidosis, lymphoma, HIV and HTLV infection. Conditions associated with parotid enlargement should also be excluded, including juvenile recurrent parotitis (JRP), sialadenosis, sarcoidosis, lymphoma, infectious parotitis caused by streptococcal and staphylococcal infections, viral infections (paramyxovirus, Epstein-Barr virus, cytomegalovirus, and parvovirus), and diffuse infiltrative lymphocytosis syndrome (associated with HIV infection), and rare congenital conditions, such as polycystic parotid disease. CASE REPORT. A paediatric female patient was referred to our clinic for dental treatment complaining about dry mouth, oral discomfort, and dysphagia. The patient presented five of the required criteria to establish the diagnosis of pSS, including ocular symptoms, oral symptoms, evidence of keratoconjunctivitis sicca, focal sialadenitis confirmed by minor salivary gland biopsy, and evidence of major salivary gland involvement. Our patient did not have positive SS-A and SS-B autoantibodies. According to the literature, about 29% of individuals with pSS can present seronegativity for SS-A (anti-Ro) antibodies and about 33% can present seronegativity for SS-B (anti-La) antibodies. CONCLUSION. To the best of our knowledge, this is the youngest patient reported in the scientific English literature with pSS. Primary Sjögren syndrome has a wide clinical and immunologic spectrum and may progress with increased morbidity. Clinicians must be aware of the development of pSS in such an early age and exclude all possible differential findings to provide early diagnosis and treatment.


Subject(s)
Age of Onset , Dental Care for Children , Dental Care for Chronically Ill , Salivary Glands/pathology , Sjogren's Syndrome/diagnosis , Autoantibodies/blood , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Pediatric Dentistry , Sjogren's Syndrome/blood , Sjogren's Syndrome/pathology , Sjogren's Syndrome/therapy
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