Vitamin D Receptor Gene Polymorphisms and Environment Influencing the Impact on Survival in Hemodialysis Patients.

INTRODUCTION: The vitamin D-receptor axis is involved in multiple physiological functions and altered states such as hypertension, mineral metabolism disorders, and inflammation. These disturbances are major risk factors for progression to end-stage kidney disease and cardiovascular disease. In addition, changes in internal systemic environment could be influencing the impact of survival in patients with kidney disease. This study aimed to evaluate the impact of vitamin D receptor (VDR) polymorphisms on hemodialysis patients' survival. MATERIAL AND METHODS: A total of 122 hemodialysis patients and 120 healthy controls were compared for VDR gene polymorphism. Markers for full coverage in the VDR gene were selected and genotyped. The hemodialysis patients were followed until death event, which was considered the primary endpoint for the survival analysis. RESULTS: Two tag SNPs (rs10875695 and rs11168293) showed significant differences between the hemodialysis and healthy patients. In survival analysis, the CC genotype for rs2248098, compared to the TT genotype, was associated with a worse mortality rate. After adjustments for age, sex, diabetes mellitus, and cardiovascular disease, the genotype CC (rs2248098) was associated with a higher risk of mortality in a multivariable analysis. CONCLUSIONS: Polymorphisms specific to patients with kidney disease could be influencing different conditions associated with mortality. Thus, these genetic markers, rs2248098 for example, would act in a specific time in the history of kidney disease and would bring different results of patient survival outcomes.

Analysis of IL1 gene polymorphisms and transcript levels in periodontal and chronic kidney disease.

UNLABELLED: Chronic kidney disease (CKD) and periodontitis (PD) are complex inflammatory disturbances, influenced by genetic factors. Interleukin (IL)-1 genes code for inflammatory mediators involved in the physiopathogenesis of both diseases. Functional polymorphisms in IL1 genes modulate cytokine levels and have been associated with susceptibility to immune-inflammatory conditions. OBJECTIVES: The aim of this study was investigate the association of functional IL1 gene polymorphisms and transcript levels with susceptibility to CKD and PD. DESIGN: The sample consisted of 246 individuals, mean age 44.8 years, divided into: group 1 (64 patients without CKD and without PD), group 2 (58 without CKD and with PD), group 3 (52 with CKD and without PD) and group 4 (72 with CKD and with PD). DNA was obtained from cells of oral mucosa and polymorphisms IL1AC-889T, IL1BC-511T, IL1BC+3954T and IL1RN (intron 2) were analyzed by PCR-RFLP. Transcript levels from gingival tissues were analyzed by real-time PCR. RESULTS: IL1RN(*)1 allele was associated with almost 4-fold increased risk for CKD (OR 3.92 95% CI=1.6-9.4, p=0.002). IL1RN(*)2 allele was associated with 3-fold increased risk for PD in CKD patients (OR 3.08 95% CI=1.2-7.9, p=0.019). Allele T for polymorphism IL1B+3954 was associated with CKD in PD patients (OR 2.28 95% CI=1.1-4.7, p=0.019). Significantly increased levels of transcripts of IL1A, IL1B and IL1RN genes were found in PD patients. CONCLUSIONS: It was observed an evidence for association of IL1B and IL1RN alleles with susceptibility to CKD and PD. Higher levels of IL1 gene transcripts were found in PD patients.

Prevalência de lesões bucais diagnosticadas pelo Laboratório de Histopatologia do UnicenP / Prevalence of oral lesions diagnosed by UnicenP histopathology laboratory

Foi realizado um estudo retrospectivo de 1.963 lesões bucomaxilofaciais diagnosticadas pelo Laboratório de Histopatologia da Faculdade de Odontologia do UnicenP/PR no período de 2003 a 2006, para demonstrar a prevalência das lesões bucais mais frequentes, correlacionando-as com idade e gênero. Os resultados mostraram 82 variantes histológicas diferentes. O perfil epidemiológico de pacientes acometidos por patologias mostrou percentual maior em indivíduos do sexo feminino (65,82%), com maior frequência na 5a. década de vida (24%) e média de idade de 44,2 anos. Os dados evidenciaram a hiperplasia fibrosa inflamatória como a lesão mais prevalente (30,6%), seguida de fibroma (21,29%), cisto radicular (5,2%) e mucocele (5,04%)

The aim of this study has fundamental importance for the fact belonging to the Public Health area as well as Oral Pathology, whose knowledge favors the prevention, diagnosis, prognosis and a correct therapeutic to be instituted for each case. A retrospective study of 1963 oral and maxillofacial lesions diagnosed by the Histopathology Laboratory of the Scholl of Dentistry ­ UnicenP was carried out over a 3-year period, with an analysis of prevalence of these lesions, correlating them to age and sex, through a study of the respective lauds of histopathologic diagnosis. From the results, 82 different diagnoses were observed. The epidemiologic profile of these patients was characterized by female (65,82 %), with a greater frequency on the 5th decade of life (24%), average of 44,2 year-old age. Data evidenced Inflammatory Fibrous Hyperplasia the most prevalent lesion (30,6%), followed by Fibroma (21,29%), Radicular Cyst (5,2%) and Mucocele (5,04%)

Association between vitamin D receptor gene polymorphisms and susceptibility to chronic kidney disease and periodontitis.

BACKGROUND/AIMS: Chronic kidney disease (CKD) and periodontitis (PD) are serious public-health concerns. Vitamin D is a fat-soluble steroid hormone that interacts with its nuclear receptor (VDR) to regulate a variety of biological processes, such as bone metabolism, immune response modulation and transcription of several genes involved in CKD and PD disease mechanisms. The aim of this work was to investigate the association between polymorphisms in the VDR gene and end-stage renal disease (ESRD) and PD. METHODS: 222 subjects with and without ESRD (in hemodialysis) were divided into groups with and without PD. Polymorphisms TaqI and BsmI in the VDR gene were analyzed by PCR restriction fragment length polymorphism. The significance of differences in allele, genotype and haplotype frequencies between groups was assessed by the chi2 test (p value <0.05) and odds ratio (OR). RESULTS: Allele G was associated with protection against ESRD: groups without versus with ESRD (GG) x (GA+AA): OR = 2.5, 95% CI = 1.4-4.6, p = 0.00; (G x A): OR = 1.5, 95% CI = 1.0-2.3, p = 0.02; (TG + CG) x (TA + CA): OR = 1.5, 95% CI = 1.0-2.3, p = 0.02. No association was observed between the study polymorphisms and susceptibility to or protection against PD. CONCLUSION: Allele G of the VDR BsmI polymorphism was associated with protection against ESRD.

Nevo melanocítico: revisão de literatura e relato de caso clínico / Melanocytic nevi: literature review and clinical case report

Nevo é um termo genérico que se refere a malformações da pele e da mucosa, podendo ser de natureza congênita ou de desenvolvimento. Os nevos surgem nas camadas epiteliais superficiais ou em qualquer uma das variedades de tecido conjuntivo subjacente ao epitélio. Os nevos melanocíticos intrabucais podem ser classificados de acordo com as suas características histológicas em juncionais, compostos ou intramucosos.Existe uma dificuldade no diagnóstico diferencial entre o nevo melanocítico e as lesões com aspectos clínicos similares. Este trabalho tem por objetivo revisar a literatura sobre os nevos melanocíticos e relatar um caso clínico, descrevendo as características clínicas e histopatológicas do nevo melanocítico do tipo juncional e o diagnóstico diferencial com outras lesões bucais, ressaltando que dentre os nevos melanocíticos que prevalecem na cavidade bucal, o nevo melanocítico juncional é considerado incomum