Familial cancer: depressed NK-cell cytotoxicity in healthy and cancer affected members

Este estudo se reporta às funções de células natural killer (NK), como adesão, lise e citotoxicidade e de subpopulações de células T em uma família com alta prevalência de pacientes com câncer e que apresentaram: glioblastoma, leucemia mielóide crônica, osteoblastoma, melanoma e carcinomas gástrico, pancreático e cólon retal. Quinze membros dessa família foram estudados, sendo 13 sadios, acompanhados por 5 anos e dois com câncer: glioblastoma e leucemia mielóide crônica. Duas pessoas sadias, no momento da avaliação, desenvolveram posteriormente osteoblastoma mandibular ou melanoma maligno. Como controle, foram avaliados 19 indivíduos saudáveis de faixa etária equivalente. A determinação de linfócitos T CD3+ e de suas subpopulações CD4+ e CD8+ foi realizada empregando-se anticorpos monoclonais e a atividade citotóxica de células NK, avaliada pelo teste de single-cell contra células alvo da linhagem eritroleucêmica K562. Os resultados mostraram que as percentagens de células T totais (CD3+), da subpopulação CD4+ e da relação CD4/CD8 foram significativamente menores nos indivíduos da família estudada em comparação aos valores observados no grupo controle. em todos os membros dessa família a percentagem de formação de conjugados entre células NK-células alvo foi inferior ao valor mínimo observado nos controles. Essa alteração poderia estar relacionada a defeito na expressão de moléculas de adesão, presentes na membrana de células NK, como provável causa das alterações funcionais dessas células. A herança dos mecanismos determinantes desta deficiência pode ser um fator de risco, com valor prognóstico para o desenvolvimento de cancer.

Validez de la cervicografía y papanicolaou comparado con la biopsia en el diagnóstico de cáncer de cuello uterino

Con el objetivo de determinar la validez del PAP y de la cervicografía comparados con la biopsia para la detección oportuna del cancer y a su vez utilizar ambas pruebasde tipo comparativo-descriptivo-prospectivo. Resultados: de las 180 pacientes que acudieron a la consulta externa la gran mayo`ría se encuentran entre los 59 años coreespondiendo al 55.5%, casadas 78.33%, el 16.66% de pacientes presentaron antecedentes de algun tipo de cancer familiar, de (100%) pero la especificidad es más alta para el PAP (100%) que la cervicografía 88%. Conclusiones: se tiene que una alta tasa de pacientes tienen antecedentes de cancer y que el PAP es el examen que diagnostica con más exactitud un cancer de cuello uterino y que la cervicografía seria un metodo de diagnostico de sospecha para dicha patología. Se debería impulsar a que se trabaje con estos dos métodos en forma mancomunada para diagnosticar cancer de cuello uterino en forma más confiable y segura

Qualidade de vida, otimismo, enfrentamento, morbidade psicológica e estresse familiar em pacientes com cancer colorretal em quimioterapia

Este estudo avaliou as relações entre a qualidade de vida, otimismo, enfrentamento, morbidade psicológica e estresse familiar, os preditores da qualidade de vida e da morbidade psicológica e analisou as diferenças nestas variáveis em função do sexo, do tipo e da duração do tratamento, idade e nível de escolaridade em pacientes com câncer colorretal. Uma amostra de 100 pacientes em tratamento de quimioterapia participou no estudo. Os resultados revelaram que as mulheres, os pacientes diagnosticados nos últimos 12 meses e os que realizaram cirurgia/quimioterapia apresentam maior risco de desenvolver morbidade psicológica. A depressão mostrou ser um preditor da qualidade de vida. A idade e a escolaridade mostraram ser relevantes particularmente ao nível das estratégias de enfrentamento utilizadas e na qualidade de vida. Os resultados enfatizam a necessidade das intervenções focarem a morbidade, otimismo e ter em consideração o gênero, a duração do diagnóstico e o tipo de tratamento, em particular.

Cápsula endoscópica de colon versus colonoscopia en el cribado familiar de cancer colorrectal

Els objectius van ser avaluar prospectivament la capacitat diagnòstica de la càpsula endoscòpica en comparació amb la colonoscòpia en 30 pacients amb història familiar de CCR, i avaluar la neteja colònica amb preparació amb Moviprep. La prevalença de pòlips detectats amb càpsula i colonoscòpia va ser de 20,7% i 24,1%, respectivament. La sensibilitat i especificitat en detecció de pòlips va ser de 71, 4 i 95,4%, respectivament, amb VPP i VPN de 83,3 i 91,3%. Es conclou que la càpsula endoscòpica suposa una tècnica alternativa precisa, fiable, ben tolerada i segura pel cribatge familiar de CCR.

Esophageal cancer associated with chronic mucocutaneous candidiasis. Could chronic candidiasis lead to esophageal cancer?

Chronic mucocutaneous candidiasis (CMC) is a rare disease associated with immunodeficiency and characterized by persistent and refractory infections of the skin, appendages and mucous membranes caused by members of the genus Candida. Several different disorders are classified under this common denominator, including chronic and recurrent mucocutaneous infections due to Candida spp., which are sometimes linked to autoimmune endocrinopathies. These fungal infections are usually confined to the mucocutaneous surface, with little propensity for systemic disease or septicemia. We describe a patient with CMC who had an esophageal candidiasis refractory to treatment for decades and who developed an epidermoid esophageal cancer. No risk factors such as familiar susceptibility, smoking, alcohol drinking, or living in an endemic area were verified. This case report suggests the participation of nitrosamine compounds produced by chronic Candida infections as a risk factor for esophageal cancer in a patient with autosomal-dominant chronic mucocutaneous candidiasis.

Genetic analysis of caveolin-1 and eNOS genes in colorectal cancer.

Caveolae are involved in physical compartmentalization between different groups of signaling events. Its main component, CAV1, modulates different pathways in cellular physiology. The emerging evidence pointing to the role of CAV1 in cancer led us to study whether different alleles of this gene are associated with colorectal cancer (CRC). Since one of the most characterized enzymes regulated by CAV1 is eNOS, we decided to include both genes in this study. We analyzed five SNPs in 360 unrelated CRC patients and 550 controls from the general population. Two of these SNPs were located within eNOS and three within the CAV1 gene. Although haplotype distribution was not associated with CRC, haplotype TiA (CAV1) was associated with familiar forms of CRC (p<0.05). This was especially evident in CRC antecedents and nuclear forms of CRC. If both CG (eNOS) and TiA (CAV1) haplotypes were taken together, this association increased in significance. Thus, we propose that CAV1, either alone or together with eNOS alleles, might modify CRC heritability.

A problemática do sofrimento: percepçao do adolescente com cancer

Os adolescentes com câncer vivenciam situações de sofrimento decorrentes do diagnóstico, terapêutica, alteração no cotidiano e na dinâmica familiar. O objetivo deste estudo é identificar as principais causas de sofrimento vivenciadas por um grupo de adolescentes com câncer, a partir de uma entrevista com os próprios pacientes. Participaram do estudo 12 adolescentes internados na Clínica Pediátrica do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, no período de 13 de novembro a 16 de dezembro de 1997. Utilizamos a abordagem qualitativa para a análise dos dados. As principais causas de sofrimento descritas foram: hospitalização, restrição nas atividades cotidianas, terapêutica agressiva, alteração da auto-imagem e medo da morte. Os adolescentes não falaram apenas de sofrimento, também apresentaram sugestões para minimizá-lo, como por exemplo: utilização de catéter venoso central, liberação de horário de visitas, diminuição do número de internações, comunicação eficiente e bom relacionamento com a equipe de saúde.

Diagnóstico e manejo do câncer gástrico familiar

Embora a neoplasia gástrica maligna constitua-se numa das principais causas de mortalidade por câncer, as bases moleculares desta enfermidade permanecem ainda pouco compreendidas. Recentemente, a identificação de lesões gástricas difusas ocorrendo em famílias com padrão de transmissão tipicamente mendeliano, resultou no achado de um evento molecular único: mutações no gene da caderina-E. Esta entidade foi denominada câncer gástrico hereditário. Apesar de rara, a sua identificação deve ser suspeitada na prática clínica, já que é possível detectar-se casos precoces de câncer nestas famílias em alto risco. Como a análise mutacional do gene da caderina-E só é realizada em pouquíssimos centros no mundo, é importante tentar identificar estas famílias por meio de critérios de fácil acesso para qualquer profissional de saúde. Este trabalho comenta os critérios sugeridos pelo International Gastric Cancer Linkage Consortium (IGCLC), propostos em 1999, além de tentar estabelecer algumas diretrizes para o rastreamento das pessoas em risco.

Polimorfismos de los genes P53, CYP1A1, CYP1B1, GSTM1, GSTT1 y GSTP1 en cáncer de seno familiar en una población colombiana

Se considera que la susceptibilidad al cáncer de seno es poligenética1; es necesario estudiar otros factores genéticos. Se realizó un estudio analítico de casos y controles (1:2) 120:240. Se tomó una muestra de sangre periférica, y posteriormente se realizó la extracción de ADN (PROBE) y se determinó la presencia de los polimorfismos. Se encontraron asociaciones estadísticamente significativas con el cáncer de seno para: del grupo p53 exón 4, la Arginina con un OR 1,923 IC 95% (1,117 – 3.309); del grupo p53 intrón 3 el I3wm con OR 30,887 IC 95% (3,709 – 257,209); del grupo p53 intrón 6 el I6wm con OR 2.061 IC 95% (1.059 - 4,013); del grupo CYP1B1 Val432leu, la Valina con un OR 2.273 con un IC del 95% (1.084 – 4.855); del grupo CYP1B1 Asn453se la Asparagina/Serina con un OR 1,987 con IC 95% (1.076 – 3.670). El polimorfismo gstm 1r reporta un OR 0,366 con IC 95% (0,219 – 0,613) el cual se considera como protector para cáncer de seno.

Vivência do cuidador familiar de paciente com câncer

Pós-graduação em Enfermagem (mestrado profissional) - FMB

Investigation of single-strand conformational polymorphism of the TP53 gene in women with a family history of breast cancer

Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old) of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years) are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our sample, the familial tumorigenesis is probably related to other gene etiologies.

[On quality of life after surgical therapy of oral cancer - a retrospective multi-center study: the connection between dedentition, denture, quality of life, and dysphagia, and the resulting rehabilitation schemes]

PURPOSE: The surgical treatment of oral cancer results in functional and aesthetical impairments. Patients' quality of life is considerably impaired by oral symptoms resulting from therapy of oral cancer. In many cases the inevitable resection of the tumor, as well as the adjuvant radiochemotherapy will cause the destruction of physiologically and anatomically important structures. One focus of research was the specific rehabilitation of dental loss by functional dentures. Another was the course of 19 impairments (comprehension of speech for unknown others, comprehension of speech for familiar others, eating/swallowing, mobility of the tongue, opening range of the mouth, mobility of lower jaw, mobility of neck, mobility of arms and shoulders, sense of taste, sense of smell, appearance, strength, appetite, respiration, pain, swelling, xerostomia, halitosis). METHODS: Commissioned by the German, Austrian and Swiss cooperative group on tumors of the maxillofacial region (DOSAK), data were collected in 3.894 questionnaires at 43 hospitals in Germany, Austria and Switzerland. The catalogue comprised 147 items in 9 chapters. At the end of the enquiry, 1.761 anonymous questionnaires were returned by 38 hospitals. 1.652 of these could be evaluated regarding the question. RESULTS: The sum score of the 19 impairments was highly increased immediately after the operation and recovered over the next 6 months, without, however, reaching the pre-surgery level. Of 1.652 patients, only 35% did not lose any teeth during therapy. 23% lost up to 5, 17% up to 10 teeth. A quarter of the patients lost more than 10 teeth. The more teeth were lost, the greater the decline of quality of life (p < or = 0.001), although this could be allayed by the functionality of the dentures (p < or = 0.001). There is a reciprocal dependence between the functionality of dental prosthetics and impairment by eating/swallowing (p < or = 0.001). CONCLUSIONS: Patients' quality of life after radical surgery of a carcinoma of the oral cavity depends not only on the functionality of dentures and the specificity of rehabilitation, but also from the initial findings, the extent and location of the resection, the chosen therapy, the general circumstances of the patient's life as well as their strategies of coping. These factors, however, unlike those of functionality of dental prosthesis and rehabilitation, are not modifiable.

A psychoeducational intervention reduces the need for anesthesia during radiotherapy for young childhood cancer patients

BACKGROUND: Radiotherapy (RT) has become an important treatment modality in pediatric oncology, but its delivery to young children with cancer is challenging and general anesthesia is often needed. METHODS: To evaluate whether a psychoeducational intervention might reduce the need for anesthesia, 223 consecutive pediatric cancer patients receiving 4141 RT fractions during 244 RT courses between February 1989 and January 2006 were studied. Whereas in 154 RT courses corresponding with 2580 RT fractions patients received no psychoeducational intervention (group A), 90 RT courses respectively 1561 RT fractions were accomplished by using psychoeducational intervention (group B). This tailored psychoeducational intervention in group B included a play program and interactive support by a trained nurse according to age to get familiar with staff, equipment and procedure of radiotherapy. RESULTS: Group A did not differ significantly from group B in age at RT, gender, diagnosis, localization of RT and positioning during RT. Whereas 33 (21.4%) patients in group A got anesthesia, only 8 (8.9%) patients in group B needed anesthesia. The median age of cooperating patients without anesthesia decreased from 3.2 to 2.7 years. In both uni- and multivariate analyses the psychoeducational intervention significantly and independently reduced the need for anesthesia. CONCLUSION: We conclude that a specifically tailored psychoeducational intervention is able to reduce the need for anesthesia in children undergoing RT for cancer. This results in lower costs and increased cooperation during RT.

Blood and lymphatic vessel invasion in pT1 colorectal cancer: an international concordance study

AIM This study was performed to evaluate the concordance in pathological assessments of blood and lymphatic vessel invasion (BLI) in pT1 colorectal cancers and to assess the effect of diagnostic criterion on consistency in the assessment of BLI. METHODS Forty consecutive patients undergoing surgical resection of pT1 colorectal cancers were entered into this study. H&E-stained, D2-40-stained and elastica-stained slides from the tumours were examined by 18 pathologists from seven countries. The 40 cases were divided into two cohorts with 20 cases each. In cohort 1, pathologists diagnosed BLI using criteria familiar to them; all Japanese pathologists used a criterion of BLI from the Japanese Society for Cancer of the Colon and Rectum (JSCCR). In cohort 2, all pathologists used the JSCCR diagnostic criterion. RESULTS In cohort 1, diagnostic concordance was moderate in the US/Canadian and European pathologists. There were no differences in the consistency compared with results for Japanese pathologists, and no improvement in the diagnostic concordance was found for using the JSCCR criterion. However, in cohort 2, the JSCCR criterion decreased the consistency of BLI diagnosis in the US/Canadian and European pathologists. The level of decreased consistency in the assessment of BLI was different between the US/Canadian and European pathologists. CONCLUSIONS A uniform criterion strongly influences the diagnostic consistency of BLI but may not always improve the concordance. Further study is required to achieve an objective diagnosis of BLI in colorectal cancer. The varying effects of diagnostic criterion on the pathologists from Japan, the USA/Canada and Europe might reflect varied interpretations of the criterion. Internationally accepted criterion should be developed by participants from around the world.

Coping with advanced cancer: Caregivers and their patients

Background. Being diagnosed with advanced cancer may be one of the most difficult challenges a person faces. To help deal with advanced cancer, patients and caregivers lean towards the coping skills most familiar to them. Depending on the person, one’s coping may either help or perpetuate the problem. ^ Purpose. To identify predictors of negative coping skills among a group patients and caregivers, and to identify the predictors of prolonged grief among a group of providers, 6-months post loss. ^ Methods. Advanced cancer patients and caregivers were interviewed at the time of their enrollment (baseline) and caregivers were interviewed 6 months after the patient’s death (post-loss). Each participant was administered questionnaires regarding demographics, mental health disorders, mental health service use, coping methods, quality of life, and suicide attempts. Patients were asked about their treatment and diagnosis. Other patient-related information was obtained from medical charts. Moreover, caregivers were given an assessment regarding their alcohol and smoking history. ^ Results. Among White patients, positive coping skills were positively correlated with quality of life and negative coping skills were negatively correlated with quality of life. Gender, psychiatric disorders, suicidality, alcohol and smoking history, and treatment and diagnosis, were significantly related to negative coping skills; however this relationship only held for Hispanic patients. Gender and psychiatric disorders demonstrated predictive value for negative coping skills among all patients. On the other hand, psychiatric disorders, major depression, anxiety disorder, suicidality, and alcohol and smoking history, were not significant predictors of which caregivers experienced prolonged grief. ^ Conclusion. There was a significant relationship between quality of life and positive and negative coping skills of patients and negative coping skills for caregivers. Factors such as gender, psychiatric disorders, suicidality, alcohol and smoking history, and treatment and diagnosis demonstrated predictive value for negative coping skills in patients. ^