ABSTRACT
Abstract Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem. Objective: To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil. Methods: This research involved 53 individuals, who were assessed by a questionnaire for predicting the possibility of non-syndromic deafness and for data collecting. Samples were tested for the presence of the 35delG mutation in GJB2 gene and D13S1830 in GJB6 gene by polymerase chain reaction and restriction enzyme digestion. Results: Epidemiological research has shown that the majority of the subjects are unaware of the etiology and the pathogenesis of hearing loss. In 9 patients (16.98%), 35delG mutation was found in heterozygosis and the allele frequency was estimate to be around 8.5%. Although 9.61% of the patients reported having some degree of consanguinity between the parents and 12.08% reported other cases of deafness in their families, this mutation was not found in homozygosis. The D13S1830 mutation was not found in this study. Conclusion: This research describes for the first time the frequency of the 35delG and D13S1830 mutation in hearing-impaired individuals from Minas Gerais, Brazil, and the collected data reinforce the need for further studies in this population due to heterogeneity of hearing loss.
Resumo Introdução: A surdez é o déficit sensorial mais frequente em humanos. Estima-se que a incidência seja de 4:1.000 nascimentos no Brasil. Programas específicos para atendimento clínico de pacientes com perda auditiva são escassos no Brasil e a questão é um importante problema de saúde pública. Objetivo: Determinar a frequência das mutações 35delG no gene GJB2 e D13S1830 no GJB6 em pacientes deficientes auditivos de origem neurossensorial e não sindrômica de Minas Gerais, Brasil. Método: A pesquisa envolveu 53 indivíduos selecionados por meio de questionário o qual avaliou a possibilidade de surdez não sindrômica entre outros dados. As amostras foram testadas quanto à presença da mutação 35delG no gene GJB2 e D13S1830 no gene GJB6 por reação em cadeia da polimerase e digestão com enzima de restrição. Resultados: A pesquisa epidemiológica mostrou que a maioria dos indivíduos desconhece a etiologia da perda auditiva. Em 9 pacientes (16,98%), a mutação 35delG foi encontrada em heterozigose e a frequência alélica foi estimada em 8,5%. Embora 9,61% das pessoas tenham relatado algum grau de consanguinidade entre os pais e 12,08% relatassem outros casos de surdez em suas famílias, essa mutação não foi encontrada em homozigose. A mutação D13S1830 não foi encontrada neste estudo. Conclusão: Este trabalho descreve pela primeira vez a frequência da mutação 35delG e D13S1830 em deficientes auditivos de Minas Gerais, Brasil, e os dados coletados reforçam a necessidade de mais estudos nessa população devido à heterogeneidade da perda auditiva.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Hearing Loss, Sensorineural/genetics , Mutation/genetics , Polymerase Chain Reaction , GenotypeABSTRACT
INTRODUCTION: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem. OBJECTIVE: To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil. METHODS: This research involved 53 individuals, who were assessed by a questionnaire for predicting the possibility of non-syndromic deafness and for data collecting. Samples were tested for the presence of the 35delG mutation in GJB2 gene and D13S1830 in GJB6 gene by polymerase chain reaction and restriction enzyme digestion. RESULTS: Epidemiological research has shown that the majority of the subjects are unaware of the etiology and the pathogenesis of hearing loss. In 9 patients (16.98%), 35delG mutation was found in heterozygosis and the allele frequency was estimate to be around 8.5%. Although 9.61% of the patients reported having some degree of consanguinity between the parents and 12.08% reported other cases of deafness in their families, this mutation was not found in homozygosis. The D13S1830 mutation was not found in this study. CONCLUSION: This research describes for the first time the frequency of the 35delG and D13S1830 mutation in hearing-impaired individuals from Minas Gerais, Brazil, and the collected data reinforce the need for further studies in this population due to heterogeneity of hearing loss.
Subject(s)
Hearing Loss, Sensorineural/genetics , Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Genotype , Humans , Male , Polymerase Chain Reaction , Young AdultABSTRACT
Cervical uterine cancer is the second most frequent form of cancer in the female population and the fourth cause of cancer deaths among Brazilian women. In Divinópolis county, Minas Gerais state, cervical cancer accounted for 6.6% of deaths in 2007. The purpose of this study was to conduct an epidemiological and molecular investigation of samples of pre-neoplastic and neoplastic cervical uterine lesions from patients assisted at public healthcare services in the county. The study was based on clinical-epidemiological descriptions retrieved from cytological examination request forms from 2006 to 2010. For molecular analysis, samples from 95 patients were collected and DNA was extracted using the Chelex 100 method. PCR was performed for detection and typing of HPV 6/11, 16, 18, 31, and 33. Of the 52 168 patients who underwent cytological examination, 625 had pre-neoplastic or neoplastic lesions during the study period. Age distribution was consistent with the literature, with a predominance of patients aged 20-49 years. The microorganism found most frequently was Lactobacillus sp. (65%). Prominent among cellular alterations were cervical intraepithelial neoplasia I (39.7%) and atypical squamous cells of undetermined significance (32%). Molecular analysis revealed 72.6% of positive samples for HPV. HPV 16 (26.3%) was the most frequent type, followed by types 6/11 (7.4%), 18 (5.3%), 33 (2.1%), and 31 (1%). The results provided improved understanding of the association between HPV and cancer in Divinópolis, in addition to providing data that can contribute to the design of measures to prevent and control HPV infection in the county investigated.
Subject(s)
Papillomaviridae/classification , Papillomaviridae/isolation & purification , Papillomavirus Infections/epidemiology , Papillomavirus Infections/pathology , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/pathology , Adult , Brazil/epidemiology , DNA, Viral/genetics , DNA, Viral/isolation & purification , Female , Humans , Middle Aged , Papillomaviridae/genetics , Papillomavirus Infections/virology , Polymerase Chain Reaction , Uterine Cervical Neoplasms/virology , Young AdultABSTRACT
O presente relato de caso refere-se ao carcinomaneuroendócrino de pequenas células de laringe acometendouma mulher de 52 anos. Este carcinoma é umaneoplasia altamente maligna com metástases frequentese taxa de sobrevida baixa. Depois dos carcinomasespinocelulares, os tumores de laringe mais frequentessão os neuroendócrinos, que podem ser derivados decélulas neurais ou epiteliais. Os tumores neuroendócrinosderivados de epitélio podem ser classificados emquatro grupos patológicos bem definidos: tumor carcinoide,tumor carcinoide atípico, carcinoma neuroendócrinode pequenas células e carcinoma neuroendócrinode células grandes. Os carcinomas neuroendócrinos têmmorfologia distinta, entretanto apresentam perfil imunohistoquímicomarcado por algumas combinações depositividade para citoqueratina, cromogranina, sinaptofisina,CD56, CD57, enolase, serotonina, somatostatinae bombesina. Esses tumores da laringe apresentam umgrande espectro de evolução clínica, dependente dosubtipo histológico, que influencia significativamente oplanejamento de todo o tratamento.
This case report refers to small cell neuroendocrinecarcinoma of the larynx affecting a 52-year-old female.This is a highly malignant neoplasm with frequentmetastases and a lower survival rate. After squamouscarcinomas, the most frequent tumors of the larynx arethe neuroendocrine, these tumors can be derived fromneural or epithelial cells. Neuroendocrine tumors derivedfrom epithelium can be classified into four pathologicalcategories defined: carcinoid tumor, atypical carcinoidtumor, small cell neuroendocrine carcinoma andlarge cell neuroendocrine carcinoma. It is known thatdespite of having distinct morphology, neuroendocrinecarcinomas have immunohistochemical profile markedby some combination of positive for cytokeratin, chromogranin,synaptophysin, CD56, CD57, enolase, serotonin,somatostatin and bombesin. These laryngeal tumorsshow a broad spectrum of clinical, dependent onthe histological subtype, which influences the planningof the whole treatment.