PTCH1 Gene Variants, mRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients.

BACKGROUND: Skin cancer is one of the most frequent types of cancer, and cutaneous squamous cell carcinoma (cSCC) constitutes 20% of non-melanoma skin cancer (NMSC) cases. PTCH1, a tumor suppressor gene involved in the Sonic hedgehog signaling pathway, plays a crucial role in neoplastic processes. METHODS: An analytical cross-sectional study, encompassing 211 cSCC patients and 290 individuals in a control group (CG), was performed. A subgroup of samples was considered for the relative expression analysis, and the results were obtained using quantitative real-time PCR (qPCR) with TaqMan® probes. The functional, splicing, and disease-causing effects of the proposed variants were explored via bioinformatics. RESULTS: cSCC was predominant in men, especially in sun-exposed areas such as the head and neck. No statistically significant differences were found regarding the rs357564, rs2236405, rs2297086, and rs41313327 variants of PTCH1, or in the risk of cSCC, nor in the mRNA expression between the cSCC group and CG. A functional effect of rs357564 and a disease-causing relation to rs41313327 was identified. CONCLUSION: The proposed variants were not associated with cSCC risk in this Mexican population, but we recognize the need for analyzing larger population groups to elucidate the disease-causing role of rare variants.

Salud Bucal y Enfermedades no transmisibles en pacientes de un centro de enseñanza universitaria, Montevideo-Uruguay. Parte 1 / Saúde bucal e doenças não transmissíveis em pacientes de uma instituição de ensino superior, Montevidéu, Uruguai 2016. Parte 1 / Oral Health and Non communicable Diseases in patients of a higher education institution, Montevideo, Uruguay 2016. Part 1

Resumen Las enfermedades no transmisibles (ENT) comparten factores de riesgo conductuales y metabólicos con las enfermedades bucales y ambas representan un problema de salud pública. Objetivo: Determinar la prevalencia ENT y sus factores de riesgo conductuales y metabólicos en personas que concurrieron a la Facultad de Odontología de la Universidad de la República. Metodos: Estudio transversal en el que se aplicó un cuestionario sobre características sociodemográficas y hábitos vinculados a factores de riesgo comportamentales. Se realizaron mediciones antropométricas, de presión arterial y glicemia capilar. Resultados: Fueron encuestados 602 individuos Conclusiones: En función de las prevalencias elevadas de varios factores de riesgo, se recomienda la instalación de un programa preventivo-educativo en las salas de espera de la Facultad.

Resumo As doenças não transmissíveis (DNT) compartem fatores de risco comportamentais e metabólicos com as doenças bucais, as duas representam um problema de saúde pública. Objetivo: Determinar a prevalência DNT e os fatores de risco comportamentais e metabólicos em pessoas que concorreram à Faculdade de Odontologia da Universidade da República. Métodos: Foi realizado um estudo transversal, onde foi aplicado um questionário relativo às características sociodemográficas e hábitos ligados com fatores de risco comportamentais. Se realizaram medições antropométricas, de pressão arterial e glicemia capilar. Resultados: Foram pesquisados 602 indivíduos. Constatou-se uma alta prevalência de inatividade física, ingestão problemática de álcool, consumo excessivo de sal, hipertensão e diabetes. Estes valores foram acima dos encontrados a nível nacional. Conclusão: Dada a alta prevalência encontrada de vários fatores de risco, recomenda-se a instalação de um programa educacional-preventivo nas salas de espera da Faculdade.

Summary Non-communicable diseases (NCD) share behavioral and metabolic risk factors with oral diseases and both represent a public health problem. Objective: to find out the prevalence of NCD and its behavioral and metabolic risk factors in people who attend at College of Odontology of the University of the Republic. Methods: A Cross-sectional study was conducted and a questionnaire related to socio-demograhic characteristics and habits linked to behavioral risk factors was applied. Anthropometric measurements of arterial pressure and capillary glucose were taken, Results: The final sample were 602 individuals. A high prevalence of physical inactivity, problematic alcohol intake, excessive salt consumption, hypertension and diabetes was found. These figures were larger than those found at the national level. Conclusions: Due to the high prevalence of various risk factors, the installation of a preventive-educational program in the waiting rooms of the Faculty is recommended.

Caries dental. La enfermedad oral más prevalente: Primer Estudio poblacional en jóvenes y adultos uruguayos del interior del país / Dental caries, most prevalent oral disease: a population survey on young and adult people of Uruguay country

En el año 2010, se realizó el Primer Relevamiento Nacional de Salud Bucal en adultos uruguayos del interior del país. El mismo permitió determinar la prevalencia de caries en jóvenes 15 a 24 años y adultos mayores de 35 años. Se desarrolló un estudio transversal, descriptivo, según la metodología para estudios poblacionales aconsejada por la OMS (1997). La muestra fue estratificada en fases por conglomerados(n=922: 418:15 -24 años; 229 entre 35-44 y 275: 65-74). Como resultados se obtuvo: Prevalencia: 94% (95%IC: 91.8-96.1) en las mujeres y de 91% (95%IC: 87.8-94.1) en los hombres. CPO poblacional: 12,4 (95%IC: 11.9-12.9); de 15 a 24 años: 4,8 (95% IC: 4.3-5.3); 35- 44 años: 15,8 (95% IC: 14.7-16.9) y de 65 a 74 años: 24,4 (95% IC: 23.3-25.5). Conclusiones: la prevalencia de caries aumenta con la edad, siendo mayor en el género femenino. La fracción P (perdidos) del CPOD resultó considerablemente mayor en adultos de 35-44 y de 65-74 años. En la población juvenil, se destacó un distanciamiento entre el índice CPOD y el Significant Caries Index (SIC).

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via the detection of reducing bodies in muscle biopsy sections stained with menadione-NBT followed by clinical, histological, ultrastructural and molecular genetic analysis. A total of 11 patients from nine families were included in this study, including seven sporadic patients with early childhood onset disease and four familial cases with later onset. Weakness in all patients was progressive, sometimes rapidly so. Respiratory failure was common and scoliosis and spinal rigidity were significant in some of the patients. Analysis of muscle biopsies confirmed the presence of aggregates of FHL1 positive material in all biopsies. In two patients in whom sequential biopsies were available the aggregate load in muscle sections appeared to increase over time. Ultrastructural analysis revealed that cytoplasmic bodies were regularly seen in conjunction with the reducing bodies. The mutations detected were exclusive to the second LIM domain of FHL1 and were found in both sporadic as well as familial cases of reducing body myopathy. Six of the nine mutations affected the crucial zinc coordinating residue histidine 123. All mutations in this residue were de novo and were associated with a severe clinical course, in particular in one male patient (H123Q). Mutations in the zinc coordinating residue cysteine 153 were associated with a milder phenotype and were seen in the familial cases in which the boys were still more severely affected compared to their mothers. We expect the mild end of the spectrum to significantly expand in the future. On the severe end of the spectrum we define reducing body myopathy as a progressive disease with early, but not necessarily congenital onset, distinguishing this condition from the classic essentially non-progressive congenital myopathies.