The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

BACKGROUND: DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. However, little is known about the condition of the oral cavity in this disorder, although palate fissure, abnormal mandible, malocclusion, and tooth hypoplasia have been identified. We aimed to determine the odontological features of patients with 22q11.2 microdeletion, in relation to gingival health and oral hygiene. We report the systemic manifestations of nine patients and results of oral evaluation of two patients. In the oral examination, oral hygiene and gingivitis were evaluated. CASE PRESENTATION: In terms of the systemic manifestations, we found high frequencies of low weight and height at birth. In terms of the oral manifestations, both examined patients presented malocclusion, enamel hypoplasia, dental crowding, anodontia, and healthy periodontium. CONCLUSION: Although DG has been documented to involve periodontium disease, the patients in this study exhibited more dental manifestations such as enamel defects, misalignment between the teeth and the two dental arches, anodontia, and dental crowding. As such, a multidisciplinary approach combining dentistry and healthcare is recommended in this case.

In silico analysis of genomic variables associated to HPV16 integration sites / Análisis in silico de variables genómicas asociadas a sitios de integración de HPV16

Background: Despite current prophylactic interventions, a significant proportion of patients suffers a cancer-specific mortality, leading to a global awareness of the importance of identifying factors associated to the etiology of HPV-associated cancer. According to this, HPV-DNA integration into human genome is an important event in the pathogenesis. Purpose: To identify in silico, molecular regions of the genome where the HPV integration events occur Methods: We performed a bioinformatic study based on a systematic search in Medline through PubMed, Embase and Lilacs from inception to April 2019. We used the UCSC Genome Browser Home (https://genome.ucsc.edu) to evaluate the genetic environment. Results: HPV integration sites by anatomical location related to cervical cancer were 374 (61%). In addition, 325 (87%) of these integration sites had HPV-16, 21 (5%) had HPV-18 and 28 (7%) had another type of genotype. Oro-pharyngeal cavity was the second anatomic site with 162 (26%) integration sites. It is noteworthy that the HPV-16 was found integrated into 160 (99%) analyzed sites. Conclusion: Our results suggest that many of the integration sites reported in the scientific literature are HPV 16 from squamous cell carcinomas and 50% of HPV16 were integrated into transcriptional units that might affect the expression of gene target.

Antecedentes: A pesar de las intervenciones profilácticas actuales, una proporción significativa de pacientes muere debido al cáncer, lo que aumenta la conciencia global de la importancia de identificar los factores asociados a la etiología del cáncer asociado al VPH. Según esto, la integración del ADN-VPH en el genoma humano es un evento importante en la patogénesis. Propósito: Identificar in silico, las regiones moleculares del genoma donde ocurren los eventos de integración del VPH Métodos: Realizamos un estudio bioinformático basado en una búsqueda sistemática en Medline a través de PubMed, Embase y Lilacs desde el inicio hasta abril de 2019. Utilizamos el UCSC Genome Browser Home (https://genome.ucsc.edu) para evaluar el entorno genético. Resultados: Los sitios de integración del VPH relacionados con el cáncer de cuello uterino fueron 374 (61%). Además, 325 (87%) de estos sitios de integración tenían VPH-16, 21 (5%) tenían VPH-18 y 28 (7%) tenían otro tipo de genotipo. La cavidad orofaríngea fue el segundo sitio anatómico con 162 (26%) sitios de integración. Es de destacar que el VPH-16 se encontró integrado en 160 (99%) sitios analizados. Conclusión: Nuestros resultados sugieren que muchos de los sitios de integración reportados en la literatura científica que presentan al VPH-16 son carcinomas de células escamosas y que el 50% de estos VPH-16 se integraron en unidades transcripcionales que podrían afectar la expresión de algún gen objetivo.

The effectiveness of vaccination to prevent the papillomavirus infection: a systematic review and meta-analysis.

Our purpose was to determine the effectiveness and harms of vaccination in patients with any sexual history to prevent the prevalence of papillomavirus infection. A search strategy was conducted in the MEDLINE, CENTRAL, EMBASE and LILACS databases. Searches were also conducted in other databases and unpublished literature. The risk of bias was evaluated with the Cochrane Collaboration's tool. Analysis of fixed effects was conducted. The primary outcome was the infection by any and each human papillomavirus (HPV) genotype, serious adverse effects and short-term adverse effects. The measure of the effect was the risk difference (RD) with a 95% confidence interval (CI). The planned interventions were bivalent vaccine/tetravalent/nonavalent vs. placebo/no intervention/other vaccines. We included 29 studies described in 35 publications. Bivalent HPV vaccine offers protection against HPV16 (RD -0.05, 95% CI -0.098 to -0.0032), HPV18 (RD -0.03, 95% CI -0.062 to -0.0004) and HPV16/18 genotypes (RD of -0.1, 95% CI -0.16 to -0.04). On the other side, tetravalent HPV vaccine offered protection against HPV6 (RD of -0.0500, 95% CI -0.0963 to -0.0230), HPV11 (RD -0.0198, 95% CI -0.0310 to -0.0085). Also, against HPV16 (RD of -0.0608, 95% CI -0.1126 to -0.0091) and HPV18 (RD of -0.0200, 95% CI -0.0408 to -0.0123). There was a reduction in the prevalence of HPV16, 18 and 16/18 genotypes when applying the bivalent vaccine, with no increase in adverse effects. Regarding the tetravalent vaccine, we found a reduction in the prevalence of HPV6, 11, 16 and 18 genotypes, with no increase in adverse effects.

Effect of vaccination against oral HPV-16 infection in high school students in the city of Cali, Colombia.

INTRODUCTION: In recent years, an association between HPV-16 and oropharyngeal cancers has been reported. Therefore, it is necessary to evaluate whether vaccination decreases the exposure of HPV-16 in the oral cavity. OBJECTIVE: To evaluate the effect of vaccination on oral HPV-16 infection in high school students in the city of Cali, Colombia. METHODS: In this cross-sectional study, HPV-16 DNA was detected in samples from the oral cavity and throat of 1,784 high school students of both genders, aged 14-17 years old, in 21 schools in the city of Cali, Colombia. The number in vaccinated girls were 944 vs., 95 unvaccinated girls and 745 unvaccinated boys. RESULTS: The HPV exposure percentages were: 0.7% in vaccinated girls, 3.2% in unvaccinated girls and 2.3% in unvaccinated boys. The odds ratio (OR) of detection of HPV-16 in vaccinated versus unvaccinated students was 0.28 (95% CI: 0.07-0.88), representing a 72% reduction in HPV-16 detection in students immunized with two doses. The odds of detection of HPV-16 in unvaccinated male students were 3.6 times those of vaccinated girls (OR = 3.6, 95% CI: 1.21-12.81) and increased to almost eight-fold in boys who had initiated sexual activity (OR = 7.74, 95% CI: 1.53-75.09). CONCLUSIONS: HPV vaccination was associated with the reduction of HPV-16 exposure percentages in the oral and oropharyngeal cavity.

Association between TMPRSS2:ERG fusion gene and the prostate cancer: systematic review and meta-analysis.

INTRODUCTION: To identify the association between the TMPRSS2:ERG fusion gene, their variants and the onset of localized prostate cancer. MATERIAL AND METHODS: A systematic search strategy was carried out through MEDLINE, EMBASE, LILACS, CENTRAL and unpublished literature. We included randomized control trials, cohort, case-control and cross-sectional studies that involved patients >18 years-old assessing the association between TMPRSS2 fusion gene, its single nucleotide polymorphisms and prostate cancer. The primary outcome was prostate cancer defined by histology of the tumor coming from transrectal ultrasound guided biopsy, transurethral resection of the prostate or radical prostatectomy. We assessed the risk of bias with QUADAS2 and performed a meta-analysis with Stata 14. RESULTS: We found 241 records with the search strategies. After duplicates were removed, 18 studies were included in qualitative analysis and 15 studies in meta-analysis. All included studies that had no applicability concerns and low risk of bias for flow and timing. Nine studies had an unclear risk of bias for index and reference tests, since they did not describe the blinding assessment appropriately. Regarding the association between TMPRSS2:ERG and prostate cancer, we found an odds ratio (OR) 2.24 and a 95% confidence interval (CI) (1.29 to 3.91). Regarding the kind of sample, urine showed an OR 2.79 and a 95% CI (1.12 to 6.98) and when using a DNA molecular template, the OR was 3.55 with a 95% CI (1.08 to 11.65). CONCLUSIONS: There was an association between TMPRSS2:ERG fusion gene with the diagnosis of prostate cancer, mainly in urine samples and DNA-based molecular templates. TMPRSS2:ERG might be used as the gold standard biomarker for diagnosis and stratification of PCa.

Clinical, pathological, and immunohistochemical analysis of schwannoma in oral cavity: a case report / Análisis clínico, patológico e inmunohistoquímico de schwannoma en cavidad oral: reporte de caso

ABSTRACT. A schwannoma is a slow-growing benign neoplasm of the peripheral nerves composed of Schwann cells. Pathologically, is characterized by solid, subcutaneous, asymptomatic lesions. Histologically, it is made of prototypes of cellular organization called Antoni A and Antoni B. The most common site for its occurrence is the tongue, followed by the palate, the floor of the mouth, the buccal mucosa, the lips, and the mandible. This article describes the case of a 55-year-old woman presenting with a firm, nodular, encapsulated mass in the sub mucous area of the vestibular zone behind the right cheek. The clinical, pathological, and immunohistochemical analysis showed that this was a case of intraoral schwannoma.

RESUMEN. El schwannoma es una neoplasia benigna de crecimiento lento de los nervios periféricos compuestos por células de Schwann. Su anatomía patológica se caracteriza por lesiones sólidas, subcutáneas y asintomáticas. Histológicamente está compuesto por prototipos de organización celular denominados Antoni A y Antoni B. La lengua es el sitio más común, seguido por paladar, piso de boca, mucosa bucal, labios y mandíbula. En este trabajo se describe un caso de una mujer de 55 años que presenta una masa firme, nodular y encapsulada en la zona submucosa del vestíbulo derecho detrás del carrillo. Después del análisis clínico, patológico e inmunohistoquímico, se determinó que era un caso de schwannoma intraoral.

Diversidad genética en poblaciones humanas de dos regiones colombianas / Genetic diversity in human populations of two regions from Colombia

Introducción: Estudios preliminares han mostrado la existencia de relaciones genéticas entre las poblaciones humanas del sur-occidente y las de la región andina colombiana, teniendo esto implicaciones en el grado de miscegenación de estas comunidades. No obstante el reconocimiento de este amplio proceso de mestizaje, no se tiene suficiente información que permita establecer la estructura y el grado de diversidad genética para cada región en particular y de la población colombiana en general. Objetivo: Determinar la estructura y diversidad genética presente en grupos poblacionales del centro y sur-occidente colombiano. Metodología: Se analizaron las frecuencias alélicas de 12 sistemas de microsatélites autosómicos y el tipo y frecuencia de RFLPÆs de mtDNA presentes en 472 individuos de tres grupos étnicos: mestizos, indígenas y afroamericanos. Resultados: La caracterización de haplotipos de mtDNA en individuos afrodescendientes presentó 15% de marcadores típicos amerindios y 43% de africanos. El anßlisis de la diversidad genética mostró un índice de 0.72 en individuos Pijaos, valor cercano al índice de diversidad de la población mestiza de Cali (0.75). El analisis molecular de varianza (AMOVA) a partir de los 12 STRÆs, mostró que la estructuración genética no es significativa (FST de 0.032); adicionalmente se evidenció alta endogamia en la muestra mestiza de Caldas (0.43) y en la muestra indígena Coyaima (0.34).Conclusiones: Con los marcadores moleculares estudiados se estableció la estructura genética de poblaciones del sur-occidente colombiano confirmandose adicionalmente el grado de miscegenación y el flujo genético ocurrido entre diferentes grupos étnicos del centro y sur-occidente colombiano.

Introduction: Preliminary studies have showed close relations among southwest human populations and Andean region leaving it consequences in ethnic admixe process. However, this wide process of racial admixture today it is not exist sufficient information to define structure and genetic diversity for each region and Colombian population in general. Objectives: The principal goal from this study was to determinate the genetic structure and diversity present into human populations from Andean and Southwest Colombia regions. Methods: This study was realized by characterization allelic frequencies of 12 autosomal STRÆs and six RFLPÆs of mtDNA presents in 472 individuals from three ethnics groups: Caucasoids, Afroamericans and Amerindians. Results: mtDNA haplotypes presents in Afrodescends sample was 15% and 43% typical Amerindian and African markers respectively; the genetics diversity analysis shows a value of 0.72 in Pijao indigenous, these values are close to diversity index of mestizos from Cali (0.75). AMOVA of allelic frequencies from 12 STRÆs shows that genetic structures donÆt was significatively different (FST de 0.032); in addition itÆs to exhibit high endogamy in mestizos from Caldas sample (0.43) and Coyaima indigenous (0.34). Conclusions: was established genetic structure for southwest Colombian population. Additionally, the results confirm the mixing process and the genetics flow among many populations groups from Andean and southwest Colombia regions.