Papiloma Invertido Nasossinusal com Malignização: A Propósito de um Caso Clínico

O papiloma invertido é uma neoplasia benigna do epitélio nasossinusal caracterizado pela sua capacidade de invasão local, elevadas taxas de recorrência e risco de malignidade. Apresenta-se o caso de um doente do sexo masculino, 37 anos, com história de cirurgias nasais prévias, que se apresentava com sintomas de obstrução nasal e sensação de corpo estranho de evolução prolongada. Foi realizada cirurgia endoscópica nasal e a análise histopatológica das amostras revelou um padrão de papiloma invertido com carcinoma in situ. É discutido o diagnóstico diferencial desta patologia, bem como a sua relação com a malignidade e tratamento da mesma

Contribution to the study of epidemiological factors associated with sensorineural hearing loss in the population of São Tomé and Príncipe

ABSTRACT: Otorhinolaryngology, like other medical and non-medical services, can contribute to its humanitarian support. At the end of 2010, the ORL department of CUF Infante Santo Hospital, led by Professor João Paço, was invited to participate in humanitarian missions in one of the Portuguese-speaking countries, former Portuguese colony - Democratic Republic of São Tomé and Príncipe. Without any knowledge of the main ENT pathologies we started this adventure. From research on sub-Saharan African countries, an increase in deafness was expected from chronic otological infections. The mission was organized to have audiological assessment, ENT assessment and surgical interventions. It was in February 2011 that we started the adventure through the hot lands of São Tomé and Príncipe. Deafness was one of the main problems found, but contrary to what we expected, deafness was mainly sensorineural, affecting a high percentage of children, some without language acquisition and with bilateral profound deafness. At the end of the first mission, the results led to the curiosity to understand the reason for the increased prevalence of sensorineural deafness, irreversible and with socio-cultural repercussions important for the development of a country. The absence of clinical records, laboratory exams, imagiologic or audiologic tests led us to a greater clinical challenge of etiological cause of hearing loss in this country. The present doctoral project was born at the end of the first mission. Admission to the doctoral course was accepted in July 2011, and a challenge to research began. The initial research project has undergone several modifications due to there are several diagnostic and economic constrictions. In June 2013, in the scope of the doctoral course, during genetics curricular unit, and due to difficulties in carrying out complementary examinations in the island, born the idea was born to study the association between neurossensorial hearing loss and some of some of the most frequent hemoglobinopathies of the region. These hemoglobinopathiesare known to give some protection for the development of one of the major scourges of the country – Malaria. For that, was carried-out the collection of blood samples on Dried Blood Spot or Guthrie paper from São Tomé and Príncipe for analysis in Portugal. Since São Tomé and Príncipe is an island that has been colonized for many years by Portuguese, we could hypothesize for the existence of an associated genetic factor, and for that reason the evaluation of the main mutations of our people should be investigated. Since São Tomé and Príncipe is an island that has been colonized for many years by Portuguese, we hypothesize the existence of the same genetic factors, and for that reason the evaluation of the main mutations from Portuguese population was investigated. In this country, they had a significant improvement in primary health care, since the implementation of humanitarian aid by the IMVF in cooperation with the Camões Institute. São Tomé and Príncipe have good vaccination coverage, but some vaccines that may have an impact on the appearance of deafness, such as rubella, were not implemented until this project. Rubella is a known etiologic factor for congenital deafness. In São Tomé and Príncipe it is not possible to determine the existence of the disease by laboratory tests, being a pathology often forgotten at diagnosis. For this reason, the research project also contemplated the serological study of rubella in order to confirm the existence of the disease in the community and demonstrate the need to implement adequate measures - vaccination. Knowing that there is not only an etiological factor for deafness, the birth of this project undoubtedly is stimulating for a clinician and a researcher. The curiosity that awakens and the attempt to stop this scourge that interferes so much with the development of a community, leads to the effort which is always rewarded. Analyzing the main effects of the risk factors evaluated, it was found that female gender is in high risk to have HL than male gender; rubella disease could lead to HL if it is during gestational period and represents a double risk to HL. In this sample, self-report of malaria infection augments the risk of HL, around three times more; sickle cell disease (HbSS) have almost two and half folder risk to develop HL and sickle cell trait is protecting to HL; regarding G6PD non-B variant in association with gender, even though it was not found to be statistically significant, male gender almost duplicated the risk to develop HL; the mutations in GJB2 and GJB6 of control group, unilateral and bilateral did not reveal significant difference. There was a wide variability in mutations found, which led to conclude that it is not possible to define a standard and can be justified by the existence of multiple people to colonize the island. Simultaneously with the etiological research project, there is a need to the diagnosis to minimize the effects of deafness. The acquisition of equipment for audiological evaluation (audiogram and auditory evoked potentials) and the acquisition and adaptation of hearing aids to children and young adults with work activity were born with the help of patronage, in order to reduce the effects of social isolation. This project gave rise to another humanitarian project - "Projecto sem Barreiras" of the Fundação Calouste Gulbenkian with the IMVF and Universidade Católica Portuguesa which included the national implementation of the Sign Language of São Tomé and Príncipe (LGSTP) and the Neonatal Auditory Screening of São Tomé and Príncipe (RANSTP), with the acquisition of acoustic oto-emission equipment. Undoubtedly a project that was born with Professor João Paço, cherished by all, with the ambition to contribute to the development of a country - Democratic Republic of São Tomé and Príncipe and scientific knowledge

G6PD variants, malaria and sensorineural hearing loss in São Tomé and Príncipe: a case-control study

Background: São Tomé and Príncipe (STP) is a least developed country (LDC) on Sub-Saharan Africa, in which was detected a high prevalence of sensorineural Hearing Loss (SNHL). HL is a common condition with both genetic and environmental causes, and it greatly impacts on global health. STP population has leading with additional health problems over the years, such as anaemia and malaria infection. The present study aims to identify the correlation between the most prevalent G6PD variants and the high prevalence of HL in STP population. Methods: A sample of 316 individuals collected during Humanitarian Missions in STP, was retrospectively studied in a case-control approach to evaluate the role of G6PD gene variants in individual susceptibility to HL and it correlation with other potential risk factors. Results: The results obtained showed an increased risk for those cases that have reported malaria infection (OR 1.867, CI 95% [1.107-3.48]) in global population. The same effect of increased risk was found after stratification for male gender (OR 3.721 CI 95% [1.631-8.489]). Conclusions: Our results did not allow us to correlate any specific variant of G6PD gene with HL. However, emphasize the hypothetical correlation between malaria infection and the increased risk for HL.info:eu-repo/semantics/publishedVersio

A Protocol for Systematic Review

This work is financed by national funds through the FCT—Foundation for Science and Technology, I.P., under the project UIDB/04585/2020.Obstructive sleep apnea is a sleep disorder with a high prevalence in the world population. The mandibular advancement device is one of the options for treating obstructive sleep apnea. Neck computed tomography and drug-induced sleep endoscopy are complementary diagnostic tests that may help predict the effectiveness of mandibular advancement devices. This study aims to analyze the best method for predicting the effectiveness of mandibular advancement devices in the therapeutic approach to obstructive sleep apnea. PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Web of Science Core Collection databases will be comprehensively searched. We will include randomized clinical trials, non-randomized prospective or retrospective clinical studies, case controls, cohort studies, and case series. Two authors will independently conduct data extraction and assess the literature quality of the studies. The analysis of the included literature will be conducted by Revman 5.3 software. The outcomes that will be analyzed are craniofacial characteristics, cephalometric assessments, site and type of obstruction of the upper airway, mean values of the apnea-hypopnea index, and SaO2 verified in the initial and follow-up polysomnography. This study will provide reliable, evidence-based support for the clinical application of mandibular advancement devices for obstructive sleep apnea.publishersversionpublishe

Emerging Linguistic Features of Sao Tome and Principe Sign Language

UID/LIN/03213/2013 PD/BD/105763/2014In Sao Tome and Principe (STP), there are approximately five thousand deaf and hard-of-hearing individuals. Until recently, these people had no language to use between them other than basic home signs used only to communicate with their families. With this communication gap in mind, a project was set up to help them come together in a common space in order to create a dedicated environment for a common sign language to emerge. In less than two years, the first cohort began to sign and to develop a newly emerging sign language – the Sao Tome and Principe Sign Language (LGSTP). Signs were elicited by means of drawings and pictures and recorded from the beginning of the project. The emergent structures of signs in this new language were compared with those reported for other emergent sign languages such as the Al-Sayyid Bedouin Sign Language (ABSL) and the Lengua de Señas de Nicarágua (NSL), and several similarities were found at the first stage. In this preliminary study on the emergence of LGSTP, it was observed that, in its first stage, signs are mostly iconic and exhibit a greater involvement of the articulators and a larger signing space when compared with subsequent stages of LGSTP emergence and with other sign languages. Although holistic signs are the prevalent structure, compounding seems to be emerging. At this stage of emergence, OSV seems to be the predominant syntactic structure of LGSTP. Yet the data suggest that new signers exhibit difficulties in syntactic constructions with two arguments. Emerging linguistic features of Sao Tome and Principe Sign Language. Available from: https://www.researchgate.net/publication/316894464_Emerging_linguistic_features_of_Sao_Tome_and_Principe_Sign_Language [accessed Nov 08 2017].authorsversionpublishe

São Tomé e Príncipe: a urgência da emergência de uma língua gestual

info:eu-repo/semantics/publishedVersio

Differences in the genotype frequencies of genes related to blood pressure regulation - a comparative study between South-West Europe and Peri-equatorial Africa

Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Africa (48 from Mo zambique and 178 from São Tomé and Príncipe). The following genetic variants were analyzed: intron 4 VNTR in eNOS, rs1050829 in G6PD, -3.7kb α-thalassemic deletion in HBA, rs1800457 in CYB5R3, Hp 1/2 genotype/phenotype in Hp and intron 16 I/D in ACE. Results: Frequencies of genotypes with the 4a allele in eNOS (p<0.001), the G allele in G6PD (p<0.001), the α-3.7 kb in HBA (p <0.001), the C allele in the CYB5R3 (p<0.001) were higher in Peri-equatorial Africa. The Hp 1.1 genotype of Hp has a higher frequency in Peri-equatorial Africa (p=0.002). ACE shows no significant differences. Conclusion: Results show differences in five genetic variants. Conditions of extreme heat and humidity, characteristic of Peri-equatorial Africa, have been associated with increased sodium loss. This study suggests that selected compensatory mechanisms printed in the genome, are nowadays risk factors for hypertension in Peri-equatorial Africa.Financial support - Instituto de Investigação Científica Bento da Rocha Cabralinfo:eu-repo/semantics/publishedVersio