RESUMO
The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat configuration of the audiogram, mostly symmetrical, non-progressive and affecting more the higher frequencies. This profile underlines the importance of early identification and genetic family counseling leading to the future possibility of prevention of deafness.
Assuntos
Conexinas/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Mutação , Adolescente , Audiometria de Tons Puros , Criança , Pré-Escolar , Estudos de Coortes , Conexina 26 , Análise Mutacional de DNA , Feminino , Grécia/epidemiologia , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Medição de Risco , Índice de Gravidade de DoençaRESUMO
The infratentorial variety of the subdural empyema, with or without coexisting cerebellar abscess, is a rare clinical entity that carries a high mortality rate. We briefly describe the case of a 49-year-old man presented with severe debility, fever and an obviously neglected chronic otitis media. The patient had refused surgical treatment several months ago. After admission, his level of consciousness began to deteriorate, and the radiological studies showed infratentorial subdural suppuration extending into the right cerebellar hemisphere, along with chronic pyogenic infection of the middle ear and the mastoid process. Radical mastoidectomy was performed first, followed by extensive right posterior fossa craniectomy. The two subdural collections and the cerebellar abscess were successfully evacuated. Subsequently, he received post-operative antibiotic treatment for 6 weeks. At follow-up, 10 months after surgery, his neurological recovery was complete except for a minor residual cerebellar dysfunction on the right. This unusual case highlights that in patients presented with severe intracranial complications of chronic otitis media, early diagnosis and radical surgical intervention may be life saving.
Assuntos
Abscesso/microbiologia , Doenças Cerebelares/microbiologia , Empiema Subdural/microbiologia , Otite Média/complicações , Antibacterianos , Citrobacter/isolamento & purificação , Quimioterapia Combinada/uso terapêutico , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Otite Média/microbiologia , Staphylococcus aureus/isolamento & purificação , Resultado do TratamentoRESUMO
BACKGROUND: Vestibular neuronitis (VN) is a relatively common condition characterized by the acute onset of vertigo, nausea and vomiting, in the absence of auditory or central nervous system involvement. The exact aetiology (inflammatory, viral or vascular?) remains obscure. Lipoprotein (a) [Lp(a)] is an atherogenic particle. Its serum levels are mainly genetically determined and vary widely between individuals. Whether Lp(a) is consistently a positive acute-phase reactant is controversial. PURPOSE: We evaluated the alterations in lipidaemic parameters and serum biological markers (including acute-phase reactants) in adult patients presenting acutely with VN. SUBJECTS AND METHODS: A total of 34 consecutive VN patients (24 men and 11 women) and 37 apparently healthy controls (25 men and 12 women) were studied. Laboratory evaluation was performed during the acute episode and 6 months later (stable state). RESULTS: Serum Lp(a) concentrations were significantly lower at the time of presentation (median value 6.4 vs. 16.4 mg dL-1 in the stable state, P < 0.001), whereas fibrinogen levels were significantly higher during the acute episode than in the stable state (median value 293.0 vs. 202.0 mg dL-1, respectively, P < 0.0001). During the acute episode, plasma fibrinogen correlated with CRP levels (Spearman r = 0.84, P < 0.0001). By contrast, inverse correlations were noted between Lp(a) levels and CRP (Spearman r = -0.47, P = 0.007) as well as between Lp(a) and fibrinogen levels (Spearman r = -0.35, P = 0.05). CONCLUSION: Vestibular neuronitis episodes are associated with evidence of an acute inflammatory response as reflected by significant elevations in plasma fibrinogen and CRP concentrations, whereas Lp(a) behaves as a negative acute-phase reactant.
Assuntos
Reação de Fase Aguda/etiologia , Lipoproteína(a)/sangue , Neuronite Vestibular/complicações , Doença Aguda , Reação de Fase Aguda/sangue , Adulto , Idoso , Proteína C-Reativa/metabolismo , Feminino , Fibrinogênio/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Neuronite Vestibular/sangueRESUMO
Solitary extramedullary plasmacytomas are rare tumors that often affect head and neck region. Because of the non-specific associated symptomatology, they frequently are misdiagnosed. We briefly describe a 69-year-old woman who developed solitary plasmacytoma in the left maxillary sinus and was initially treated as having sinusitis. We also report the diagnostic work-up that is necessary to establish a correct diagnosis in such cases. This case highlights that an appropriate investigation for neoplastic disease should be performed in patients presenting with persistent symptoms that resemble those of sinusitis, especially if these do not resolve after conservative medical treatment.
Assuntos
Neoplasias do Seio Maxilar/diagnóstico , Neoplasias do Seio Maxilar/terapia , Plasmocitoma/diagnóstico , Plasmocitoma/terapia , Idoso , Feminino , Humanos , Imuno-Histoquímica , Neoplasias do Seio Maxilar/patologia , Plasmocitoma/patologia , Radioterapia de Alta Energia/métodos , Tomografia Computadorizada por Raios XRESUMO
Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.
Assuntos
Conexinas/genética , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Mutação , Audiometria de Tons Puros , Conexina 26 , Análise Mutacional de DNA , Feminino , Testes Genéticos , Genótipo , Grécia/epidemiologia , Humanos , Masculino , Reação em Cadeia da Polimerase , Vigilância da População , Prevalência , Inquéritos e QuestionáriosRESUMO
This retrospective study aims to search out the influence of temperature, atmospheric pressure and humidity on the frequency of epistaxis. The study includes 701 patients who have suffered from epistaxis and have been treated in the ENT department of the University of Ioannina Hospital, during the years 1995 and 1996. The statistical methods used are simple linear correlation and linear stepwise regression analysis. The results of simple correlation analysis showed that the daily number of epistaxes depends mainly on mean, maximum and minimum temperature and water vapour pressure. The corresponding correlation coefficients are statistically significant, indicating an influence of weather on epistaxis up to 9% of its total variance. By applying stepwise regression analysis, we managed to increase the linear correlation coefficient and the corresponding amount of variance of epistaxis explained by meteorological factors. This percentage was found to approach 20% for the cold period and 10% for the warm period of the year.
Assuntos
Epistaxe/epidemiologia , Conceitos Meteorológicos , Pressão Atmosférica , Humanos , Umidade , Análise de Regressão , Estudos Retrospectivos , Estações do Ano , TemperaturaRESUMO
BACKGROUND: Climatic or meteorological condition changes have been implicated in the pathogenesis of Bell's palsy (BP). We evaluate the influence of meteorological parameters, such as temperature, humidity, and atmospheric pressure, and their variation and covariation on the incidence of BP and present a review of the literature on the effect of meteorological conditions on facial nerve function. METHODS: A total of 171 cases of BP admitted to our Department over a five-year period were studied. The meteorological database included daily values of 13 distinct parameters recorded at the meteorological station of the University of Ioannina during this period. A relationship between each meteorological variable and the incidence of BP was investigated by applying (Chi2) test on data from 13 contingency tables. In addition, the influence of different weather types on the incidence of BP was also investigated. For this purpose Cluster Analysis was used to create eight clusters (weather types) for the Ioannina prefecture and (Chi2) test was applied on the contingency tables consisting of the days of BP cases for each cluster. RESULTS: No significant correlation was found either between BP and each distinct meteorological parameter or between BP and any specific weather. CONCLUSIONS: Meteorological conditions, such as those dominating in the Northwestern Greece, and/or their changes have little effect on the incidence of BP. Multicenter studies taking into account atmospheric pollution, and climatic differences between countries, are necessary to scrutinize the environmental effects on facial nerve function.
Assuntos
Paralisia de Bell/epidemiologia , Tempo (Meteorologia) , Paralisia de Bell/fisiopatologia , Causalidade , Análise por Conglomerados , Nervo Facial/fisiopatologia , Análise Fatorial , Grécia/epidemiologia , Humanos , IncidênciaRESUMO
An unusual case of recurrent tonsillitis due to pseudomonas aeruginosa. Pseudomonas (P.) aeruginosa in the head and neck region of an immunocompetent patient is mainly seen in ear infections, and sometimes in sinusitis. P. aeruginosa is an occasional finding in tonsil smears as part of normal microbial flora, but it rarely produces suppurative tonsil infection. We report a case of a previously healthy young female with recurrent episodes of tonsillitis due to P. aeruginosa infection. Although the patient received complete regimens of antibiotics (orally and intravenously) repeatedly, definitive eradication was only achieved after tonsillectomy.
Assuntos
Pseudomonas aeruginosa/isolamento & purificação , Tonsilite/terapia , Adolescente , Antibacterianos/uso terapêutico , Feminino , Humanos , Recidiva , Tonsilectomia , Tonsilite/microbiologia , Tonsilite/prevenção & controleAssuntos
Diabetes Mellitus Tipo 2/diagnóstico , Perda Auditiva/etiologia , Zumbido/etiologia , Adulto , Glicemia/metabolismo , Pressão Sanguínea , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Hiperglicemia/diagnóstico , Insulina/uso terapêutico , Masculino , Resultado do TratamentoRESUMO
OBJECTIVE: To investigate the middle and inner ear involvement in patients with progressive systemic sclerosis (PSS). STUDY DESIGN AND SETTINGS: We prospectively evaluated 34 PSS patients. All patients underwent a complete ear-nose-throat physical examination and audiological evaluation with pure tone, impedance, and speech audiometry. In addition, systemic manifestations of the disease and drug therapy were recorded. Finally, all patients were tested for the presence of autoantibodies. The results were compared with those of 45 age-matched healthy subjects. RESULTS: We found a sensorineural hearing loss in 20% and mixed type hearing loss in 3.3% of the patients. There was no correlation of hearing loss with age, systemic manifestations of the disease, presence of autoantibodies, and drug therapy. Ten percent of the patients had patulous eustachian tubes. CONCLUSION: One fourth of PSS patients had a hearing loss affecting the middle and mainly the high frequencies. This is a lower percentage than that reported by other investigators. A significant prevalence of bilateral patulous eustachian tubes was noticed as well. Further investigation is needed for a better understanding of the mechanism of ear damage in PSS patients.
Assuntos
Perda Auditiva Neurossensorial/etiologia , Escleroderma Sistêmico/complicações , Adulto , Idoso , Audiometria de Tons Puros , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
Chronic sinusitis, especially maxillary sinusitis is a common disorder in humans. Seromucous sinusitis is rarely described in the literature. The present study deals with the clinical and laboratory characteristics of a group of patients suffering from the above disorder. During the last 10 years, 32 patients suffering from seromucous maxillary sinusitis were enrolled in the study. Patients' charts were reviewed and tabulated according to age, sex, history, clinical symptoms and laboratory findings. Treatment was based on punction and drainage of the seromucous effluent. Results were also statistically evaluated. Flight trips and atypical episodes of nasal infection were the predisposing factors for seromucous maxillary sinusitis. The only clinical manifestation was coughing, for at least 12 weeks before diagnosis. Sinus effluent was composed by serous and mucous constituents with glue like structure. There were no differences between sexes in predisposing factors, or x-ray findings. The treatment is paracentesis and drainage and in one case of recurrence, middle meatotomy and sinus endoscopy.
Assuntos
Tosse/etiologia , Sinusite Maxilar/diagnóstico , Sinusite Maxilar/terapia , Adulto , Distribuição por Idade , Aviação , Causalidade , Doença Crônica , Drenagem , Endoscopia , Feminino , Humanos , Infecções/complicações , Masculino , Sinusite Maxilar/complicações , Sinusite Maxilar/epidemiologia , Distribuição por Sexo , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
OBJECTIVE: To estimate the diagnostic accuracy and reliability of exfoliative laryngeal cytology. STUDY DESIGN: Over three years (1996-1999) cytologic smears were obtained from clinically suspicious laryngeal lesions during laryngoscopy in a total of 31 selected patients (28 males and 3 females with an age range from 28-90 years). The cytologic diagnoses were analyzed and correlated with the histologic and final clinical diagnoses in 17 and 14 cases, respectively. Cytologic identification of the exact histologic type of the lesion was evaluated in 17 patients from whom both cytologic smears and biopsy material were obtained. RESULTS: The overall specificity was 100%, with no false positive diagnoses. The overall sensitivity was 93.3%, with one false negative cytologic diagnosis, in a case of non-Hodgkin's lymphoma. Cytohistologic correlation showed complete agreement between cytologic and histologic diagnoses in five of six benign lesions, in four cases of dysplasia and in six cases of squamous cell carcinoma. The overall diagnostic accuracy of cytology was 96.7% CONCLUSION: Exfoliative cytology by the smear technique is a reliable and accurate method in clinically suspected laryngeal lesions. Moreover, exfoliative cytology may be applied as the only alternative diagnostic method, especially in elderly patients with coexistent cardiorespiratory problems, when biopsy is not advisable or indicated.
Assuntos
Citodiagnóstico , Neoplasias Laríngeas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e EspecificidadeRESUMO
p53 is a nuclear phosphoprotein acting as a transcription factor to regulate cell cycle progression and apoptosis, mediated by a number of target genes. p53 mutant proteins have lost a) the ability to act as sequence-specific transcription factors and b) their tumour suppressive properties. As p53 is the most commonly mutated gene in human cancer, including laryngeal squamous cell carcinoma, an aggressive and most frequent tumour of head and neck, it has attracted a great deal of interest as a prognostic factor, diagnostic tool and therapeutic target. This article reviews the current understanding of the prognostic significance of p53 in laryngeal squamous cell carcinoma. Immunohistochemical staining techniques and molecular genetics demonstrated that p53 activation is an early event in laryngeal squamous cell carcinogenesis but can not be used as a reliable prognostic marker.
Assuntos
Neoplasias Laríngeas/genética , Neoplasias Laríngeas/patologia , Proteína Supressora de Tumor p53/fisiologia , Genes p53 , Humanos , PrognósticoRESUMO
Tenascin (TN) is an extracellular matrix glycoprotein expressed in areas of epithelial-mesenchymal interactions during embryogenesis and in neoplasia. We studied the expression of TN in a series of 35 squamous cell invasive carcinomas of the larynx, 13 in situ carcinomas, 41 cases of dysplasia, 10 papillomas and 18 cases of keratosis using the monoclonal antibody TN2 on paraffin-embedded tissue. TN expression was correlated with the expression of fibronectin, CD44 and cathepsin D (CD) proteins, with the proliferation indices Ki-67 and proliferating cell nuclear antigen (PCNA) as well as with conventional clinicopathological variables. Malignant tumours showed a significantly greater stromal TN staining than benign lesions. In invasive carcinomas, the immunoreactivity was statistically higher than that in situ (P=0.01), dysplastic lesions (P<0.0001), papillomas (P=0.004) and keratosis (P<0.0001). A statistically significant difference of TN expression between in situ and dysplastic lesions was observed (P=0.001). In invasive lesions, TN expression was statistically correlated with CD44 expression (P=0.02) and a trend for correlation with CD of tumour cells and fibronectin expression was found (P=0.06 and P=0.09, respectively). The relationship of TN expression with the histological grade and the proliferative activity was insignificant. In conclusion, stromal TN expression may be involved in the complex mechanism of development of laryngeal lesions and may help to predict the risk of progression of pre-cancerous lesions to cancer.
Assuntos
Doenças da Laringe/patologia , Neoplasias Laríngeas/patologia , Lesões Pré-Cancerosas/patologia , Tenascina/análise , Catepsina D/análise , Epitélio/patologia , Fibronectinas/análise , Humanos , Receptores de Hialuronatos/análise , Imuno-Histoquímica , Neoplasias Laríngeas/química , Lesões Pré-Cancerosas/química , Antígeno Nuclear de Célula em Proliferação/análiseRESUMO
Focal epithelial hyperplasia (FEH) or Heck disease, is a rare viral infection of the oral mucosa caused by HPV 13 or HPV 32. In Caucasians there have been only a few cases reported. We present the first case in Greece in a young Caucasian girl in which HPV 13 was detected with PCR analysis. The patient was successfully treated with CO2 laser.
Assuntos
Hiperplasia Epitelial Focal/radioterapia , Terapia a Laser , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/radioterapia , Infecções Tumorais por Vírus/radioterapia , Adolescente , Dióxido de Carbono , DNA Viral/isolamento & purificação , Feminino , Hiperplasia Epitelial Focal/patologia , Humanos , Papillomaviridae/genética , Infecções por Papillomavirus/patologia , Reação em Cadeia da Polimerase , Infecções Tumorais por Vírus/patologiaRESUMO
OBJECTIVE: In an attempt to investigate the presence of hearing loss in primary Sjögren's syndrome (SS) patients and to determine the factors that might be involved in its pathogenesis, we prospectively evaluated 45 female SS patients with a mean age of 56.8 +/- 9.23 years and a mean disease duration of 8.32 +/- 5.39 years. METHODS: Forty patients underwent a complete ear-nose-throat physical examination and audiological evaluation with: (a) pure tone audiometry thresholds at octave frequencies of 250 to 8000 Hz; (b) impedance audiometry (tympanogram, static compliance, acoustic reflexes, reflex decay; and (c) speech audiometry and auditory brainstem response where indicated. In addition, glandular and extraglandular manifestations of the disease and drug therapy were recorded. Finally, all patients were tested for the presence of autoantibodies, including: rheumatoid factor, antinuclear antibodies, antibodies to Ro(SSA), La(SSB) nuclear antigens, anticardiolipin antibodies and antineutrophil cytoplasmatic antibodies. The results were compared with those of 40 healthy, age-matched women. RESULTS: We found sensorineural hearing loss (SNHL) in 9 patients (22.5%): 4 patients bilaterally, 4 patients in the left ear only and one in the right ear only. In all cases the site of the ear damage was cochlear. A correlation between SNHL and the duration of the disease was found, while there was no correlation with age, systemic manifestations of the disease or the presence of autoantibodies. In addition, no correlation was found between SNHL and drug therapy. CONCLUSION: Approximately one-fourth of our SS patients presented SNHL of cochlear origin affecting mainly the high frequencies. This prevalence was lower than that reported by other investigators. SNHL was associated only with disease duration. Further investigation is needed to attain a better understanding of the mechanism of inner ear involvement in SS patients.
Assuntos
Perda Auditiva Neurossensorial/etiologia , Síndrome de Sjogren/complicações , Idoso , Audiometria de Tons Puros , Limiar Auditivo , Doenças Cocleares/complicações , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Pessoa de Meia-IdadeRESUMO
CD44 is an integral membrane glycoprotein that has diverse functions in cell-cell and cell-substrate interactions. It has been suggested that it may be a determinant of metastatic and invasive behavior in carcinomas. The immunohistochemical expression of CD44 was examined in a series of 34 squamous cell carcinomas, 13 in situ carcinomas, 35 cases with various degrees of epithelial dysplasia, 10 papillomas and 17 cases of keratosis. We used the monoclonal mouse anti-human phagocytic glycoprotein-1 CD44 (clone DF 1485), on formalin-fixed, paraffin-embedded tissue. CD44 expression was correlated with the expression of Rb and p53 proteins, with the proliferative indices Ki-67 and PCNA as well as with conventional clinicopathological data. The mean value of CD44 expression was 78.84 in squamous cell carcinomas, 78.04 in situ carcinomas, 54.93 in dysplasia, 26.8 in papillomas and 24.97 in keratosis. There was no significant difference of CD44 expression between in situ and invasive carcinomas. However, a strong difference of reaction between carcinomas and the other cases was observed. CD44 expression was statistically higher in dysplastic lesions than the cases of keratosis (p < 0.0001) and papillomas (p = 0.01). In the group of invasive carcinomas, CD44 expression was statistically correlated with pRb (p = 0.011), while in preinvasive lesions it was correlated with PCNA (p = 0.016). The relationship with the degree of dysplasia or grade of carcinoma and p53 protein expression was insignificant. These observations suggest that CD44 expression may be involved in the multiple mechanism of the development and progression of laryngeal lesions and may help to predict the risk of transformation of the benign or precancerous lesions to cancer.