A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10.

Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.

Possible association between TGF-ß1 polymorphism and oral cancer.

Oral squamous cell carcinoma (OSCC) is a worldwide health problem because it is a great cause of cancer morbidity and mortality. The transforming growth factor-ß1 (TGF-ß1) is involved in the regulation of numerous immunomodulatory processes. Thus, the aim of this case-control study was to investigate the possible association between the TGF-ß1T869C polymorphism and oral cancer. The genomic DNA extracted from peripheral blood of 62 male smoker patients diagnosed with OSCC and 62 smokers without cancer was analysed. The C allele was significantly more prevalent in the oral cancer group than in the controls, and individuals carrying this allele had an estimated 2.73-fold greater relative risk of developing cancer compared with C allele noncarriers (OR = 2.73, 95% CI = 1.19-6.28). Although T allele was not statistically significant among the controls, considering the genotypic analysis, the TT homozygous genotype showed a protector effect in relation to oral cavity cancer (OR = 0.37, 95% CI = 0.16-0.84). Some clinicopathological features were also analysed for genotype distribution, and no significant differences were observed: tumour size (P > 0.70), nodal status (P > 0.10) and tumour stage (P > 0.70). This is the first report of a study assessing the importance of T869C TGF-ß polymorphism in oral cancer. It is known that the TGF-ß T869C variation results in a Leu10Pro substitution in the signal peptide sequence. Our results suggested that the C allele could increase TGF-ß secretion which suppresses antitumour immune responses and may affect the OSCC risk.

Anomalous origin of the Abductor Pollicis Longus (APL): clinical and surgical applications

The Abductor Pollicis Longus (APL) is known to have a big variety in its number of insertion tendons.Because of that, studies about variations in its origin are not frequently achieved like studies about its insertionforms. This study describes an anatomic variation of the Abductor Pollicis Longus, with an anomalous venteroriginated of the inferior portion of the lateral border of the radio. Surgical and clinical implications are inrelation principally with the big number of tendons of insertion of the APL, but there are related cases inthe literature in that additional venter of this muscle also can be involved in the physiopathology of clinicalsyndromes, like the tenosynovitis of de Quervain

Interaction between tobacco and alcohol consumption and the risk of cancers of the upper aero-digestive tract in Brazil.

The authors investigated the joint effects of tobacco and alcohol consumption on the risk of squamous cell carcinomas of the upper aero-digestive tract (UADT) using data from a hospital-based case-control study conducted in southern Brazil, 1986-1989. A total of 784 cases of cancers of the mouth, pharynx, and larynx and 1,578 non-cancer controls matched on age, sex, hospital catchment area, and period of admission were interviewed about their smoking and drinking habits and other characteristics. Using logistic regression, evidence was found for interaction between the cumulative exposures for smoking and alcohol on UADT cancer risk. The joint effects for pharyngeal cancers exceeded the levels expected under a multiplicative model for moderate smokers (p = 0.007). There was little statistical evidence, however, for interaction on cancers of the mouth (p = 0.28) or larynx (p = 0.95). Among never smokers, heavy drinkers had 9.2 times (95% confidence interval 1.7, 48.5) greater risk of cancers of mouth, pharynx, and supraglottis than never drinkers, with a dose-response trend (p = 0.013) with cumulative consumption. The authors conclude that the interaction occurring in the pharynx between smoking and alcohol on UADT cancers is not uniform, with varying effects depending on the level of smoking exposure. Alcohol may act as both a promoter for tobacco and as an independent risk factor.

Relationship between dental factors and risk of upper aerodigestive tract cancer.

We examined the relationship between dental health variables and risk of upper aerodigestive tract (UADT) cancers in a case-control study in Southern Brazil. The study population included 717 cases of cancers of the mouth, pharynx, and larynx and 1434 controls matched on age, gender, period of admission and study site. The association with dental factors was investigated by conditional logistic regression using extensive adjustment for a priori and empirical confounders, including tobacco and alcohol consumption, diet and sociodemographic variables. Lifetime use of dentures was not associated with risk of any UADT cancer, but history of oral sores secondary to ill-fitting dentures was associated with cancers of the mouth (odds ratio [OR] = 2.3, 95% confidence interval [CI] 1.2-4.6) and of the pharynx (OR = 2.7, 95% CI 1.1-6.2) among those using dentures. The association for mouth cancers was restricted primarily to an increased risk of tongue neoplasms (OR = 9.1, 95% CI 1.9-43.4). Less than daily tooth brushing frequency was also associated with risk of cancer of the tongue (OR = 2.1, 95% CI 1.0-4.3) and of other parts of the mouth (OR = 2.4, 95% CI 1.0-5.4). Having broken teeth was not significantly associated with risk of UADT cancer of any site. We conclude that poor oral hygiene due to infrequent tooth brushing and sores caused by dentures are risk factors for cancer of the mouth and that these associations are unlikely to be due to insufficient control of confounding.

Use of wood stoves and risk of cancers of the upper aero-digestive tract: a case-control study.

BACKGROUND: Incidence rates for cancers of the upper aero-digestive tract in Southern Brazil are among the highest in the world. A case-control study was designed to identify the main risk factors for carcinomas of mouth, pharynx, and larynx in the region. We tested the hypothesis of whether use of wood stoves is associated with these cancers. METHODS: Information on known and potential risk factors was obtained from interviews with 784 cases and 1568 non-cancer controls. We estimated the effect of use of wood stove by conditional logistic regression, with adjustment for smoking, alcohol consumption and for other sociodemographic and dietary variables chosen as empirical confounders based on a change-in-estimate criterion. RESULTS: After extensive adjustment for all the empirical confounders the odds ratio (OR) for all upper aero-digestive tract cancers was 2.68 (95% confidence interval [CI] : 2.2-3.3). Increased risks were also seen in site-specific analyses for mouth (OR = 2.73; 95% CI: 1.8-4.2), pharyngeal (OR = 3.82; 95% CI: 2.0-7.4), and laryngeal carcinomas (OR = 2.34; 95% CI: 1.2-4.7). Significant risk elevations remained for each of the three anatomic sites and for all sites combined even after we purposefully biased the analyses towards the null hypothesis by adjusting the effect of wood stove use only for positive empirical confounders. CONCLUSIONS: The association of use of wood stoves with cancers of the upper aero-digestive tract is genuine and unlikely to result from insufficient control of confounding. Due to its high prevalence, use of wood stoves may be linked to as many as 30% of all cancers occurring in the region.

Maté, coffee, and tea consumption and risk of cancers of the upper aerodigestive tract in southern Brazil.

Consumption of maté, a tea-like infusion of the herb Ilex paraguariensis, is common in South America. Drinkers have high risks of upper aerodigestive tract cancers, but it is conceivable that this high risk may be attributable to confounding by smoking alcohol, and other exposures. To test this hypothesis, we analyzed the data from a case-control study of upper aerodigestive tract cancers conducted in Southern Brazil. We matched noncancer controls (N = 756) to cases (N = 378) on the basis of age, sex, and period of admission. We estimated the effect of mateé consumption by conditional logistic regression with adjustment for smoking, alcohol, sociodemographics, and several dietary items, considered as confounders. The unadjusted relative risk (RR) for all upper aerodigestive tract cancers was 2.1 [95% confidence interval (CI) = 1.6-2.7]. Some excess risk persisted after adjustment for potential confounders (RR = 1.6; 95% CI = 1.2-2.2). Most of the excess risk for maté drinkers was for oral (RR = 1.9; 95% CI = 1.1-3.3) and laryngeal (RR = 2.2; 95% CI = 2.2; 95% CI = 1.1-4.5) cancers. There was no evidence of associations with coffee and tea drinking. We conclude that the association of maté consumption with upper aerodigestive tract cancer risk is unlikely to result from insufficient control of confounding by critical exposures. Owing to its high prevalence in Southern South America, maté drinking may be linked to as many as 20% of all cases occurring in this region.

Lateness of diagnosis of oral and oropharyngeal carcinoma: factors related to the tumour, the patient and health professionals.

The risk of presenting with advanced stage vs. early stage disease was evaluated in a prospective study of 336 consecutive patients with oral and oropharyngeal carcinomas referred to three head and neck surgery services in Sao Paulo, Curitiba and Goiania during the period from February 1986 to December 1988. Income and educational levels were not associated with stage distribution. The risk of having advanced disease was dependent upon male gender. Another important determinant of advanced stage was tumour location on the less visible surfaces of the oral cavity and oropharynx. Although there was a clear increase in delay of referral among cases who were seen by more than one health professional, duration of symptoms and patient and professional delays were not associated with the risk of advanced disease in unifactorial analysis. The following factors were independently associated with the risk of advanced disease for lip carcinoma: a painful ulcer, alcoholism and delay caused by a non-specialist medical doctor. The risk factors associated to advanced oral carcinoma were: type of lesion, odynophagia/dysphagia, delay caused by a dentist and delay caused by a non-specialist medical doctor. Two of the most important immediate consequences of advanced stage were a conspicuous increase in treatment costs and a longer hospital stay.

Prognostic factors in laryngeal cancer patients submitted to surgical treatment.

The authors studied some demographic, clinical, pathologic, and therapeutic variables in relation to the disease-free interval (DFI) and to the overall survival of laryngeal cancer patients. The patient population consisted of 278 consecutive cases of primary laryngeal cancer who had been admitted to four head and neck surgery services in Sao Paulo and Curitiba (Brazil) between 1973 and 1986. All patients had surgical treatment. Although several variables exhibited individual associations with survival, only a few were deemed to have independent prognostic value using multivariate regression techniques based on Cox's proportional hazards model. The primary tumor stage (T index) represented the variable with the highest predictive strength with respect to survival. Hazard ratios for the risk of disease recurrence were 2.3 (T2-3 vs. T1) and 4.3 (T4 vs. T1). Hazard ratios for the risk of death were 1.6 (T2-3 vs. T1) and 3.3 (T4 vs. T1). The following additional factors were also independently associated with the DFI: age, site of primary tumor (transglottic, glottic, or supraglottic), extracapsular spread of lymph node metastasis, surgical margins, type of paratracheal node dissection, and prior tracheostomy. Except for extracapsular spread, the same factors related to the DFI were also significantly related to the overall survival. Race, sex, N-stage, vascular embolization, and histological grade were other independent predictors of the risk of death.

Risk factors for oral cancer in Brazil: a case-control study.

A case-control study of risk factors for carcinomas of the tongue, gum, floor, and other specified parts of the mouth was conducted in 3 metropolitan areas in Brazil: São Paulo (southeast), Curitiba (south), and Goiânia (central-west). We analyzed information on demographics, occupational history, environmental exposures, tobacco smoking and alcohol drinking habits, as well as diet, oral and other health characteristics obtained from interviews with 232 cases and 464 hospital non-cancer controls matched for 5-year age-group, sex, hospital catchment area and trimester of admission. Tobacco and alcohol consumption were the strongest risk factors irrespective of the anatomical site. The adjusted relative risks (RR) for ever vs. never smokers were: 6.3, 13.9, and 7.0, for industrial-brand cigarettes, pipe, and hand-rolled cigarettes, respectively. A strong correlation was seen between number of pack-years and risk. The RR for the heaviest vs. the lowest consumption categories (greater than 100 vs. less than 1 pack-years) was 14.8. Risk levels generally decreased to those of never smokers after 10 years had elapsed since stopping smoking. The risk associated with alcohol was mostly evident for wine (cancer of the tongue) and "cachaça" (all sites), a hard liquor distilled from sugar cane. Other important risk factors were drinking "chimarrão" (a type of maté), use of a wood stove for cooking, and frequent consumption of charcoal-grilled meat and manioc. Oral hygiene characteristics represented correlates of disease risk. A significant protective effect was observed for consumption of carotene-rich vegetables and citric fruits, but not for green vegetables in general.

Apresentacao incomum do carcinoma indiferenciado da glandula tiroide. / An unusual presentation of unspecified carcinoma of the thyroid gland

O carcinoma indiferenciado da tiroide e raro e geralmente ocorre em pacientes na 7a. e 8a. decada da vida. Ha uma discreta predilecao pelo sexo feminino. O sintoma clinico mais frequente e um aumento de volume da glandula tiroide. Manifestacoes clinicas relacionadas com a invasao dos tecidos adjacentes e metastases a distancia sao frequentes. Foi relatado um caso de uma paciente de 39 anos de idade que apresentou um quadro clinico de aumento doloroso de lobo direito da tiroide e presenca de calor e rubor da regiao cervical anterior. Febre e leucocitose importante com neutrofilia e desvio nuclear a esquerda acompanhavam o quadro clinico. A puncao da tiroide revelou a presenca de um abscesso asseptico. Com a recidiva dos sintomas no pos-operatorio imediato, realizou-se uma exploracao da tiroide e constatou-se a presenca de um carcinoma indiferenciado da tiroide com invasao dos tecidos subjacentes

Colostoma - tecnica do suporte modificado. / Colostomy-modified support technic

Com o objetivo de facilitar o manuseio imediato do colostoma, os autores apresentam a tecnica do suporte subcutaneo da alca intestinal, utilizada num total de trinta pacientes.Apresenta as complicacoes precoces e tardias da tecnica, observando-se uma incidencia de oito precoces e duas tardias

A histologia do linfonodo axilar como elemento prognostico nos tumores malignos da mama. / Histology of axillary lymph nodes as a prognostic element in carcinoma of the breast

E analisada a relacao existente entre o aspecto histologico reacional de linfonodos axilares em 83 casos de pacientes portadores de tumores malignos de mama, com o grau de imunidade sistemica determinada pelo teste cutaneo do dinitroclorobenzeno (DNCB). Observou-se que nao existe correlacao entre a histologia do linfodono e do prognostico. Concluiu-se que o numero de linfonodos axiliares acometidos por metastases e ainda o melhor parametro para o prognostico e a selecao de pacientes que devem receber tratamento adjuvante

Quando lesoes da boca significam cancer. / When mouth lesions mean cancer

A casuistica levantada, consta de 904 casos de lesoes de cavidade bucal e orofaringe, sendo 714 casos de lesoes ulceradas e, destes 91% tem como laudo anatomo-patologico CEC (Carcinoma Espinocelular). Outrossim, e dado importancia para comentarios sobre PAR (Pacientes de Alto Risco) e AAR (Areas de Alto Risco), confirmando certos dados da literatura com os nossos.Por fim, menciona-se a importancia da caracterizacao dos tres tipos de lesoes mais comumente encontradas neste sitio anatomico e a referida conduta diagnostica a ser tomada em consideracao

Interacoes medicamentosas: nossa realidade. / Drug interaction: our reality

Com o proposito de verificar as interacoes medicamentosas mais frequentes em nosso meio, realizou-se o estudo de 1.200 prescricoes de pacientes internados em diversas clinicas de Curitiba no ano de 1981.Observou-se um total de 455 interacoes medicamentosas, sendo 156 (34,3%) de importancia clinica menor, 262 (57,6%) de importancia clinica relativa e 37 (8,1%) de importancia clinica maior. Existe, portanto, elevado indice de interacoes medicamentosas, grande parte das quais potencialmente prejudiciais aos pacientes