Vânia Belintani Piatto

Seis anos de atendimento em trauma facial: análise epidemiológica de 355 casos

Facial traumas are frequent in emergencies, and they require the diagnosis of fractures and associated lesions. AIM: To analyze epidemiological data concerning facial trauma care. MATERIALS AND METHODS: Three hundred and fifty-five charts from patients with facial trauma treated by the Service of Otorhinolaryngology, from January 2002 to December 2008, were revised. The following data was collected: age, gender, etiology, anatomical localization of the fracture, associated injuries, alcohol consumption, treatment, and hospitalization. STUDY DESIGN: A retrospective historical longitudinal study. RESULTS: Most of the patients are young adult men (p<0.05) with a male:female ratio of 4:1(p<0.05). Interpersonal violence is the most prevalent cause of facial trauma (27.9%), followed by motor vehicle accidents (16.6%) (p<0.05). The mandible is the most prevalent facial bone fractured (44.2%), followed by nasal fracture (18.9%) (p<0.05). 41.1% of the patients consumed alcohol with a male:female ratio of 11.2:1 (p<0.05). Seventy-seven percent of the patients required surgical intervention (p<0.05) and 84.5% were hospitalized (p<0.05). CONCLUSION: Young male adults are the most prevalent victims of facial trauma, and interpersonal violence is responsible for the majority of the facial injuries. Most of the cases of facial trauma are associated with the consumption of alcohol. Further studies will be necessary to provide a clear understanding of the trends in the etiology of facial trauma.

Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness

Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and the del(GJB6-D13S1830) mutation in non-syndromic deaf Brazilians. The 33 unrelated probands were examined by clinical evaluation to exclude syndromic forms of deafness. Mutation analysis in the GJB2 gene and the testing for the del(GJB6-D13S1830) were performed in both the patients and their family members. The 35delG mutation was found in nine of the probands or in 14 of the mutated alleles. The V37I mutation and the del(GJB6-D13S1830) mutation were also found in two patients, both are compound heterozygote with 35delG mutation. These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients.

Avaliação da audição em crianças de 3 a 6 anos em creches e pré-escolas municipais

OBJETIVO: realizar a avaliacao da audicao e o levantamento da prevalencia de deficiencia auditiva em amostra de criancas, na faixa etaria de 3 a 6 anos, em creches e pre-escolas municipais de Sao Jose do Rio Preto, SP. METODOS: foram realizadas audiometrias em campo livre para triagem, como primeira etapa, em 103 criancas de ambos os sexos, na referida faixa etaria, em 8 creches e 8 pre-escolas previamente selecionadas. As criancas que apresentaram alteracoes audiometricas na triagem foram encaminhadas ao ambulatorio de fonoaudiologia da instituicao para realizacao de audiometria tonal convencional, em uma segunda etapa. A classificacao da deficiencia auditiva, em relacao ao grau, foi feita segundo os criterios da OMS. RESULTADOS: foram encontradas alteracoes na funcao auditiva em dez criancas (9,70%, DP%=0,96) da populacao do estudo. Destas, uma crianca (0,97%, DP%=0,96) do sexo masculino apresentou deficiencia auditiva condutiva de grau leve na orelha esquerda (media OE=35 dB) e 9 criancas (8,73%, DP%=2,78) apresentaram alteracoes nos limiares auditivos, por via aerea, nas frequencias agudas de 4.000, 6.000 e/ou 8.000Hz. Cento e duas criancas (99,03%, DP%=0,96%), sendo 55 do sexo masculino (53,39%, DP%=4,90%) e 47 do sexo feminino (45,64%, DP%=4,90%), nao apresentaram deficiencia auditiva, pelos criterios da OMS. CONCLUSOES: a prevalencia de 9,7% de alteracoes na funcao auditiva encontrada na populacao do estudo vem a comprovar a necessidade da implantacao de programas de prevencao e diagnostico precoce da deficiencia auditiva.

Avaliação dos níveis séricos de testosterona em pacientes com síndrome da apneia obstrutiva do sono

UNLABELLED Males with obstructive sleep apnea syndrome (OSAS) may present decreased testosterone serum levels because of hypoxemia. AIM To correlate testosterone levels in OSAS patients with laboratory parameters. MATERIAL AND METHODS 103 registries of OSAS patients were reviewed from 2002 to 2009. The following data collected: age when polysomnography was done, hematocrit and hemoglobin levels, total testosterone serum levels, BMI, apnea/hypopnea index (AHI), and O2 saturation. STUDY DESIGN A cross-sectional retrospective case study. RESULTS 79 patients (77%) had no hormonal changes, and 24 patients (23%) had decreased serum levels. In patients with normal testosterone levels, 70% were overweight; 63% with altered testosterone levels had obesity grade I (p<0.05). Patients with altered testosterone levels had significantly lower average doses of Ht, Hb and androgen compared to patients without altered androgen levels. The average BMI of patients with altered hormone levels was significantly higher compared to patients with normal hormone levels. CONCLUSIONS The relationship between morning testosterone levels and obesity, and to a lesser degree age, AHI and hypoxemia may be the cause of central suppression of testosterone in these patients. Decreased blood HT and HB levels may be related to lower levels of circulating testosterone.

Molecular pathogenesis of juvenile nasopharyngeal angiofibroma in brazilian patients.

Juvenile nasopharyngeal angiofibroma (JNA) is a vascular tumor of the nasopharynx that accounts for 0.5% of all cancers of the head and neck. It primarily affects males aged 14–25 years. Of the many genes that mediate the development of JNA, GSTM1 has been most frequently associated with this vascular tumor. The loss of expression of GSTM1 (null genotype) is linked to the development of these tumors. The aim of this cross-sectional case study was to examine the prevalence of the GSTM1-null genotype in Brazilian patients with JNA. DNA was extracted from the leukocytes of blood samples from 10 patients. GSTM1 genotypes were analyzed using a PCR-based assay that was designed to identify the wild-type allele of GSTM1. All 10 patients (100%) were males, with a mean age of 17.8 years. The null genotype for GSTM1 was noted in 4 patients (40%)—1 (10%) at Fisch stage I, 1 (10%) at stage III, and 2 (20%) at stage II. No patient with this genotype had stage IV disease. There was no correlation between Fisch classification and GSTM1 genotype (P = .5695). The correlation between age at diagnosis and GSTM1 genotype was not significant (P = .728). The present findings indicate that there is evidence of an association between the GSTM1-null genotype and JNA in this studied Brazilian population.

Association of temporomandibular dysfunction with the 102T-C polymorphism in the serotonin receptor gene in Brazilian patients

Introduction Serotonin is a key neurotransmitter in the central nervous system. It has been suggested that serotoninergic dysfunction mediates the pathophysiology of temporomandibular dysfunction (TMD). Polymorphisms in the serotonin receptor gene (HTR2A) can alter its transcription, affecting the number of receptors in the serotoninergic system, altering nociceptive pain and hyperalgesia in TMD. The aim of this study is to investigate the association of the 102T-C polymorphism in the HTR2A gene in Brazilian patients with TMD. Material and methods This cross-sectional study examined 100 patients, of both genders, with TMD as index cases and 100 healthy volunteers as controls, also of both genders. DNA was extracted from peripheral blood leukocytes, and the site that encompassed the polymorphism in the HTR2A gene was amplified by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP). Results Our results revealed that there were significantly more females among index cases compared with the control group (p < 0.05). The CC genotype of the 102T-C polymorphism was more frequent in patients with TMD vs. controls (OR: 2.25; 95% CI: 1.13–4.46; p < 0.05). Conclusions The present study supports the view that the 102T-C polymorphism in the HTR2A gene is associated with TMD in this studied Brazilian population.

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

UNLABELLED Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. AIM To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS. MATERIAL AND METHOD A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. STUDY DESIGN A cross-sectional case study. RESULTS There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms (p=1.000).There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01). CONCLUSION Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G /A polymorphism and OSAS.

Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

UNLABELLED The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness. AIM to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use. MATERIAL AND METHOD a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group. DNA was extracted from blood leukocyte samples, and specific oligonucleotide primers were designed to amplify the cytochrome b gene and the region which encloses the A1555G mutation of the mitocondrial DNA using the polymerase chain reaction and restriction fragment length polymorphism. DESIGN a cross-sectional case study. RESULTS a region of the cytochrome b gene was amplified and the presence of the mtDNA was confirmed in all of the 127 cases. The A1555G mutation was not found in any of the 27 patients with hearing loss or the control group with 100 neonates. CONCLUSION the results agree with studies stating that the A1555G mutation is not prevalent in the Americas. There is interest in establishing the real prevalence of this mutation and to investigate other mutations that may cause hearing loss, associated or not with the use of aminoglycosides, in the Brazilian population.

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafness genesis, especially the 35delG, but there are still only a few studies that describe the audiometric characteristics of patients with these mutations. AIM: to analyze the audiometric characteristics of patients with mutations in the connexin 26 gene in order to outline genotype-phenotype correlation. MATERIALS AND METHODS: Tonal audiometries of 33 index cases of non-syndromic sensorineural hearing loss were evaluated and eight affected relatives. Specific molecular tests were carried out to analyze mutations in the connexin 26 gene. EXPERIMENT DESING: Retrospective, cross-sectional study. RESULTS: A 27.3% prevalence of mutation 35delG was found in the index cases and 12.5% among the relatives affected. In relation to hearing loss degree, 41.5% of the patients were found with profound hearing loss, 39% with severe HL and 19.5% with moderate HL with homozygote and heterozygote patients for the 35delG predominating in the severe-moderate hearing losses. CONCLUSION: Our results suggest that the audiometric data associated with the molecular diagnose of hearing loss helped us to outline a genotype-phenotype correlation in ten patients with 35delG mutation. However, it is still necessary to run multicentric studies to verify the real phenotypic expression in the Brazilian population, as far as the 35delG mutation is concerned.

Correlation between audiometric data and the 35delG mutation in ten patients

UNLABELLED Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafness genesis, especially the 35delG, but there are still only a few studies that describe the audiometric characteristics of patients with these mutations. AIM to analyze the audiometric characteristics of patients with mutations in the connexin 26 gene in order to outline genotype-phenotype correlation. MATERIALS AND METHODS Tonal audiometries of 33 index cases of non-syndromic sensorineural hearing loss were evaluated and eight affected relatives. Specific molecular tests were carried out to analyze mutations in the connexin 26 gene. EXPERIMENT DESIGN Retrospective, cross-sectional study. RESULTS A 27.3% prevalence of mutation 35delG was found in the index cases and 12.5% among the relatives affected. In relation to hearing loss degree, 41.5% of the patients were found with profound hearing loss, 39% with severe HL and 19.5% with moderate HL with homozygote and heterozygote patients for the 35delG predominating in the severe-moderate hearing losses. CONCLUSION Our results suggest that the audiometric data associated with the molecular diagnose of hearing loss helped us to outline a genotype-phenotype correlation in ten patients with 35delG mutation. However, it is still necessary to run multicentric studies to verify the real phenotypic expression in the Brazilian population, as far as the 35delG mutation is concerned.