Abstract Biliary carcinoma, biliary fistula with occasional gallstone ileus and primary sclerosing cholangitis (PSC) are serious diseases and present specific diagnostic and therapeutic challenges. Stenting of biliary obstruction has also involved problems, but the reports are contradictory and partly limited. The aim of the present work was to evaluate and compare various imaging modalities in biliary diseases. The study also aimed to evaluate the usefulness of metallic stents in malignant biliary obstruction. The study population consisted of 210 patients with gallbladder carcinoma, bile duct carcinoma, biliary fistula, PSC or malignant biliary obstruction and eight control patients with various hepatobiliary diseases. The imaging findings of 80 patients with gallbladder carcinoma, 58 patients with bile duct carcinoma, and 16 patients with biliary fistula were reviewed. Nine patients with PSC underwent magnetic resonance cholangiography (MRC) and magnetic resonance imaging (MRI) of the liver, ultrasonography (US) of the liver and the bile ducts and endoscopic retrograde cholangiography (ERC). Eight control patients had had MRC and MRI of the liver and ERC. The medical records and radiographs of 39 patients with malignant biliary obstruction treated with percutaneously inserted metallic stents were also analysed. The stents included 48 Wallstents and seven Memotherm stents. In cases of gallbladder carcinoma, US visualised the primary tumour in 68 % and computed tomography (CT) in 57 % of the cases examined, but both methods were insufficient for accurate staging. In bile duct carcinoma, US revealed the primary tumour in 63 % and CT in 44 % of the cases examined. Both methods were sensitive in diagnosing peripheral intrahepatic cholangiocarcinoma, but inaccurate for more distal bile duct carcinoma or abdominal spread. The infiltrating type of gallbladder carcinoma and bile duct carcinoma were difficult to detect. US and CT were sensitive in revealing bile duct obstruction. The patients with biliary fistula and gallstone ileus had undergone various examinations with pathological, but not diagnostic results, and there was often a delay to diagnosis. Imaging did not reveal any of the ten spontaneous fistulas, but CT showed one of the five cases of gallstone ileus, and Gastrografin® meal revealed the single case of Bouveret's syndrome. Fistulography or cholangiography revealed all but one of the six iatrogenic fistulas. A nonvisualised or shrunken gallbladder at US should raise a suspicion of biliary enteric fistula in an appropriate clinical setting. MRC-MRI depicted the changes of PSC correctly in nine patients (radiologist 1) and in eight patients with one false positive finding (radiologist 2) in a blinded analysis. In the segmental comparison MRC missed especially bile duct dilatations. MRC was too pessimistic in the evaluation of the predictors of poor outcome. US detected features suggestive of PSC in eight patients (radiologist 3). US was unable to indicate the predictors of poor outcome. Of the patients with metallic stents in malignant biliary obstruction, 30 % had early and 66 % late complications, including stent obstructions, which occurred in 27 % of the patients at a mean of 4.4 months. The cause was mostly tumour ingrowth or overgrowth. The 25-week and 50-week patency rates were 71 % and 42 %. The patency rates of the patients with cholangiocarcinoma were significantly the lowest. There was also a tendency towards lower patency with less dilatation of the stents, an increasing number of the stents, longer strictures and hilar strictures. Many other complications were infectious. 31 % of the patients had late reinterventions.

Primary Sclerosing Cholangitis (PSC) is a progressive cholestatic liver disease with outcomes that include hepatobiliary malignancy and liver transplantation. The pathogenesis of PSC is incompletely understood and, as a result, few markers of disease progression have been identified. Vitamin D is associated with the development and treatment of multiple cancers as well as the progression of inflammatory bowel disease, making it a possible candidate as a biomarker associated with PSC outcomes. In this study, we retrospectively and prospectively collected complete laboratory results and outcome datapoints on 179 patients with PSC to determine the association between total 25(OH)-vitamin D levels, vitamin D supplementation, and both hepatobiliary malignancy and liver transplantation. Through survival analysis, we found that history of vitamin D supplementation was significantly associated with increased hepatobiliary malignancy-free and liver transplantation-free survival (p=0.025 and p=0.042, respectively). These results indicate that vitamin D is a promising factor associated with the progression of PSC to transplantation and malignancy. Future studies on this registry cohort as it increases in size and age may provide more conclusive data on the relationship between vitamin D and PSC.

Orientador: Fabiana Ferreira de Souza / Resumo: Este estudo teve como objetivo avaliar os efeitos da ação imediata e por 10 dias consecutivos, da injeção intratesticular de 20% de CaCl2 associada a 0,5% de DMSO nas características espermáticas, na temperatura, biometria e histologia testicular, nas alterações macroscópicas do escroto e tecidos subjacentes, na proteômica do líquido epididimal e do espermatozóides, e nos efeitos tardios sobre a fertilidade em ratos Wistar. Foram utilizados 96 ratos machos e 24 fêmeas, com 80 a 90 dias de idade, respectivamente. Os machos foram divididos em dois grupos (controle e tratado), pesados e, as temperaturas corporal e escrotal aferidas (tempo 0). Os ratos receberam uma injeção intratesticular de 0,1 mL de NaCl a 0,9% (controle/CTR; n = 6) ou 0,1 mL de 20% de CaCl2 associado com 0,5% de DMSO (grupo tratado; n = 90); o grupo tratado foi dividido em 15 subgrupos, de acordo com o momento da eutanásia (2, 4, 8 e 12 h; D1-D10 e D100; n = 6/grupo). A temperatura corpórea e testicular, parâmetros seminais, biometria testicular, dor, avaliação testicular macroscópica e histológica foram realizadas às 2, 4, 8 e 12 h, a cada 24 h por 10 dias consecutivos e aos 100 dias. A análise proteômica dos espermatozóides foi realizada 2 h e D1, enquanto a proteômica do fluído epidimal às 2 h, D1, D5, D7 e D10. Aos 80 dias, os machos (CTR e tratado D100) foram pareados com 3 fêmeas para o teste de fertilidade. O tratamento com 20% de CaCl2 associado com 0,5% de DMSO prejudicou os parâmetros seminais com m... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: This study aimed to evaluate immediate effect of intratesticular injection of CaCl2 20% associated with DMSO 0.5% on sperm characteristics, testicular temperature, biometry and histology, macroscopic scrotal and adjacent tissue changes, epididymal fluid and spermatozoa proteomics, and the late effect of fertility on Wistar rats. We used 96 male and 24 female Wistar rats, 80 to 90 days old respectively. Males were divided into two groups (control and treated); weighed, and body and scrotal temperatures measured (time 0). Rats received an intratesticular injection of 0.1 mL of NaCl 0.9% (control/CTR; n = 6) or CaCl2 20% associated with DMSO 0.5% (treated group; n = 90); treated group was divided into 15 subgroups depending on euthanasia time (2, 4, 8 and 12 h; D1–D10 and D100; n = 6). Body and testicular temperature, seminal characteristics, testicular biometry, pain, macroscopic and histological testicular evaluations were performed at 2, 4, 8 and 12 h, every 24 h for 10 consecutive days and at 100 days. Spermatozoa proteomics analysis was done 2 h and D1 while epididymal fluid at 2 h, D1, D5, D7 and D10. At 80th day, male (CTR and treated D100) were couple with 3 female. The treatment with CaCl2 20% associated with DMSO 0.5% impaired seminal parameters with minimal systemic effects and increased scrotal temperature at 2, 4, 8 and 12 h in the treated group. At D100 was azoospermia, testicular atrophy and negative fertility test. Rats in the CTR group at D100 were normospermic ... (Complete abstract click electronic access below) / Doutor

Introduction: Achilles tendinopathy can be a chronic disabling condition. Sclerosing injections under ultrasonographic guidance is one method to treat Achilles tendinopathy. Initially good results have later been questioned. Surgery is another treatment option that has been questioned because of varying reported success rate. Aim: We aimed to assess patient- reported outcome in patients suffering from Achilles tendinopathy, treated with sclerosing injections and/or surgery during a 6 ½ year- period. Method: After review of patient records, the Self-reported foot and ankle score (SEFAS) together with an in-house satisfaction questionnaire were mailed to the patients. A SEFAS score of 48 represents normal foot/ankle function. Results: 97 patients (53 women, 44 men, 104 tendons) were included. 69 patients (41 women, 28 men, 75 tendons) returned the questionnaires. The SEFAS values (median and range) were 37.5 (13-48) in patients treated with sclerosing therapy, 42 (15-48) in patients treated surgically and 47 (19-48) in patients that received both treatments. A greater proportion of surgically treated patients were satisfied (90% vs 50%), experienced symptom improvement and were able to return to the previous level of activity. Complications following surgery were wound infections (n=3) and deep vein thrombosis (n=3), two with pulmonary embolism. Following sclerosing injection, there was one complete Achilles tendon rupture. Conclusion: Sclerosing injections seems to be a safe treatment and a positive outcome in 50% of patients might be sufficient to use this therapy in selected patients with Achilles tendinopathy. However, surgical treatments seem more effective but are associated with more severe complications.

Orientador: Marcone Lima Sobreira / Resumo: A tese foi subdividida em quatro capítulos, todos redigidos no formato de artigos científicos. O primeiro capítulo, denominado “POLIDOCANOL VERSUS GLICOSE PARA O TRATAMENTO ESCLEROTERÁPICO DE TELANGIECTASIAS DOS MEMBROS INFERIORES: PROTOCOLOS PARA UM ESTUDO CLÍNICO, RANDOMIZADO E CONTROLADO - PG3T” foi cadastrado no site de registro de estudos clínicos dos Estados Unidos da América controlado pelo Food and Drug Administration (EUA, FDA) sob o registro número NCT02657252, com intenção de ampliar a relevância e veracidade do estudo, sendo redigido em tempo verbal futuro; o segundo capítulo, denominado “ESTUDO CLÍNICO, RANDOMIZADO, CONTROLADO E TRIPLO CEGO PARA COMPARAR POLIDOCANOL DILUIDO EM GLICOSE VERSUS GLICOSE PURA PARA O TRATAMENTO DE TELANGIECTASIAS EM MEMBROS INFERIORES - PG3T”, apresenta os resultados obtidos com a aplicação clínica do primeiro protocolo de pesquisa, sendo redigido em tempo verbal passado; o terceiro capítulo, denominado “POLIDOCANOL VERSUS GLICOSE PARA O TRATAMENTO ESCLEROTERÁPICO DE VEIAS RETICULARES DOS MEMBROS INFERIORES: PROTOCOLOS PARA UM ESTUDO CLÍNICO, RANDOMIZADO E CONTROLADO” foi cadastrado no site de registro de estudos clínicos dos EUA controlado pelo FDA (Estados Unidos da América, Food and Drug Administration) sob o registro número NCT02054325, com intenção de ampliar a relevância e veracidade do estudo, sendo redigido em tempo verbal futuro; o quarto capítulo, denominado “ESTUDO CLÍNICO, RANDOMIZADO, CONTROLADO E TRIPLO CEGO PARA COMPARAR... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The thesis was divided into four chapters, all written in the papers format. The first chapter, entitled " POLIDOCANOL VERSUS GLUCOSE FOR SCLEROTHERAPY TREATMENT OF TELANGIECTASIS OF THE LOWER LIMBS: STUDY PROTOCOL FOR A RANDOMIZED CONTROLLED TRIAL - PG3T " was registered in the clinical trials registration site of the United States controlled by the Food and Drug Administration (US FDA) under the registration number NCT02657252, intended to increase the relevance and veracity of the study, being written in the future tense; the second chapter, called "clinical study TRIPLE BLIND CLINICAL TRIAL COMPARING POLIDOCANOL VESUS HYPERTONIC GLUCOSE TO TELANGIECTASIS TREATMENT IN LOWER LIMB - PG3T" presents the results obtained with the clinical application of the first research protocol, It is written in the past tense; the third chapter, called " POLIDOCANOL VERSUS GLUCOSE FOR THE VEIN OF SCLEROTHERAPEUTIC TREATMENT RETICULAR OF LOWER LIMBS: PROTOCOLS FOR A CLINICAL STUDY, RANDOMIZED CONTROLLED TRIAL " was registered in the US clinical trial registry site controlled by the FDA (United States, Food and Drug Administration) under the number NCT02054325 record, intended to increase the relevance and veracity of the study, and written in future tense; the fourth chapter, called " RANDOMIZED, CONTROLLED AND TRIPLE BLIND CLINICAL TRIAL COMPARING POLIDOCANOL DILUTED IN GLUCOSE VESUS PURE GLUCOSE TO TREATMENT OF RETICULAR VEIN IN LOWER LIMBS" presents the results to the clinical application... (Complete abstract click electronic access below) / Doutor

© 2017, © 2017 American Federation for Medical Research. A middle-aged man presents with acute pancreatitis of unknown etiology and is found to have a presentation consistent with the diagnosis of type 2 autoimmune pancreatitis (AIP). AIP is a group of rare heterogeneous diseases that are challenging to diagnose. There are 2 types of AIP. Type 1 disease is the more common worldwide than type 2 AIP. While type 1 AIP is associated with IgG4-positive antibodies, type 2 AIP is IgG4 antibody negative. Both types of AIP are responsive to corticosteroid treatment. Although type 1 AIP has more extrapancreatic manifestations and more commonly relapses, this is a case of a patient with type 2 AIP with inflammatory bowel disease and relapsing course.

INTRODUÇÃO: A ecoescleroterapia com espuma (EEE) é um método minimamente invasivo de tratamento das varizes dos membros inferiores. Suas principais vantagens são a indicação para pacientes com alto risco cirúrgico, recuperação precoce pós-intervenção e menor custo inicial em relação aos outros métodos endovenosos. Porém, a taxa de oclusão venosa é variável, especialmente para o eixo venoso troncular com diâmetro maior que 6 mm. OBJETIVO: Comparar duas técnicas de EEE de polidocanol a 3% em veia safena magna (VSM) insuficiente, tendo como desfecho primário a taxa de sucesso completo com uma sessão terapêutica e desfechos secundários a avaliação da qualidade de vida e a taxa de complicações. PACIENTES E MÉTODOS: Seleção de 50 pacientes com varizes primárias superficiais em membro inferior (CEAP - classificação clínica, etiológica, anatômica, patofisiológica - C3) e insuficiência da VSM (6 - 10 mm de diâmetro) medida a 3 cm da junção safenofemoral. Trata-se de um estudo prospectivo, controlado e randomizado realizado no ambulatório do Serviço de Cirurgia Vascular e Endovascular do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Os participantes foram submetidos à EEE preparada pelo método de Tessari. No grupo controle, a injeção foi realizada com uma agulha 18G enquanto que, no grupo alvo, foi utilizado um cateter angiográfico multipurpose 4 Fr., precedendo-se à tumescência salina anestésica no compartimento da VSM, e irrigação contínua do cateter com solução salina antes da injeção da espuma esclerosante. A flebectomia das tributárias varicosas foi realizada em todos os pacientes em nível ambulatorial sob anestesia local tumescente. RESULTADOS: A EEE com cateter angiográfico, precedida de tumescência salina anestésica, com uma única sessão terapêutica, apresentou taxa de sucesso completo superior ao grupo controle (80% versus 36%) com significância estatística (p = 0,012). Houve melhora na qualidade de vida em ambos os grupos. (p < 0,001). Não houve diferença estatística entre os grupos na taxa de complicações (p = 0,584). CONCLUSÕES: A EEE com cateter longo em VSM, precedida de tumescência ecoguiada é um método seguro e eficaz. Apresenta maior taxa de sucesso completo da veia alvo com uma sessão terapêutica em comparação à técnica com cateter curto / INTRODUCTION: Foam echoesclerotherapy is a minimally invasive method to treat varicose veins of the legs. Its main advantages are indication for patients with high surgical risk, early recovery after intervention and lower initial cost in comparison to other endovenous methods. However, the vein occlusion rate is variable, notably for the truncal venous axis with diameter greater than 6 mm. OBJECTIVES: To compare two techniques of echoesclerotherapy with 3% polidocanol foam for the incompetent great saphenous vein (GSV), having as primary outcome the full success rate with one treatment session and secondary outcomes the quality of life and the complication rates. PATIENTS AND METHODS: Selection of 50 patients with primary superficial varicose veins of the leg (clinical, etiologic, anatomic, pathophysiologic - CEAP - classification C3) and GSV incompetence (6-10 mm diameter) measured at 3 cm distal from the saphenofemoral junction. This was a prospective, controlled and randomized trial conducted on the outpatient clinic, Division of Vascular and Endovascular Surgery, University of São Paulo. Patients underwent foam echoesclerotherapy prepared according to the Tessari method. In control group, the injection was performed with an 18G needle whereas in target group, a multipurpose angiographic catheter 4 Fr. was used, preceded by saline anaesthetic tumescence in the GSV compartment, and continuous catheter flush with saline solution before the sclerosing foam delivery. Phlebectomy of the varicose tributaries was performed under local tumescent anaesthesia on outpatient setting. RESULTS: Foam echoesclerotherapy with the angiographic catheter, preceded by saline anaesthetic tumescence yielded complete success rate with a single treatment session higher than the control group (80% versus 36%) with statistical significance (p = 0.012). There was improvement in quality of life in both groups (p < 0.001). There was no statistical difference between the groups in complication rates (p=0.584). CONCLUSIONS: Sclerotherapy with the long catheter, preceded of ultrasound-guided tumescence in the GSV compartment, is a safe and effective method. It yielded higher full success rate of the target vein with a single treatment session in comparison to the short catheter technique

INTRODUÇÃO: A ecoescleroterapia com espuma (EEE) é um método minimamente invasivo de tratamento das varizes dos membros inferiores. Suas principais vantagens são a indicação para pacientes com alto risco cirúrgico, recuperação precoce pós-intervenção e menor custo inicial em relação aos outros métodos endovenosos. Porém, a taxa de oclusão venosa é variável, especialmente para o eixo venoso troncular com diâmetro maior que 6 mm. OBJETIVO: Comparar duas técnicas de EEE de polidocanol a 3% em veia safena magna (VSM) insuficiente, tendo como desfecho primário a taxa de sucesso completo com uma sessão terapêutica e desfechos secundários a avaliação da qualidade de vida e a taxa de complicações. PACIENTES E MÉTODOS: Seleção de 50 pacientes com varizes primárias superficiais em membro inferior (CEAP - classificação clínica, etiológica, anatômica, patofisiológica - C3) e insuficiência da VSM (6 - 10 mm de diâmetro) medida a 3 cm da junção safenofemoral. Trata-se de um estudo prospectivo, controlado e randomizado realizado no ambulatório do Serviço de Cirurgia Vascular e Endovascular do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Os participantes foram submetidos à EEE preparada pelo método de Tessari. No grupo controle, a injeção foi realizada com uma agulha 18G enquanto que, no grupo alvo, foi utilizado um cateter angiográfico multipurpose 4 Fr., precedendo-se à tumescência salina anestésica no compartimento da VSM, e irrigação contínua do cateter com solução salina antes da injeção da espuma esclerosante. A flebectomia das tributárias varicosas foi realizada em todos os pacientes em nível ambulatorial sob anestesia local tumescente. RESULTADOS: A EEE com cateter angiográfico, precedida de tumescência salina anestésica, com uma única sessão terapêutica, apresentou taxa de sucesso completo superior ao grupo controle (80% versus 36%) com significância estatística (p = 0,012). Houve melhora na qualidade de vida em ambos os grupos. (p < 0,001). Não houve diferença estatística entre os grupos na taxa de complicações (p = 0,584). CONCLUSÕES: A EEE com cateter longo em VSM, precedida de tumescência ecoguiada é um método seguro e eficaz. Apresenta maior taxa de sucesso completo da veia alvo com uma sessão terapêutica em comparação à técnica com cateter curto / INTRODUCTION: Foam echoesclerotherapy is a minimally invasive method to treat varicose veins of the legs. Its main advantages are indication for patients with high surgical risk, early recovery after intervention and lower initial cost in comparison to other endovenous methods. However, the vein occlusion rate is variable, notably for the truncal venous axis with diameter greater than 6 mm. OBJECTIVES: To compare two techniques of echoesclerotherapy with 3% polidocanol foam for the incompetent great saphenous vein (GSV), having as primary outcome the full success rate with one treatment session and secondary outcomes the quality of life and the complication rates. PATIENTS AND METHODS: Selection of 50 patients with primary superficial varicose veins of the leg (clinical, etiologic, anatomic, pathophysiologic - CEAP - classification C3) and GSV incompetence (6-10 mm diameter) measured at 3 cm distal from the saphenofemoral junction. This was a prospective, controlled and randomized trial conducted on the outpatient clinic, Division of Vascular and Endovascular Surgery, University of São Paulo. Patients underwent foam echoesclerotherapy prepared according to the Tessari method. In control group, the injection was performed with an 18G needle whereas in target group, a multipurpose angiographic catheter 4 Fr. was used, preceded by saline anaesthetic tumescence in the GSV compartment, and continuous catheter flush with saline solution before the sclerosing foam delivery. Phlebectomy of the varicose tributaries was performed under local tumescent anaesthesia on outpatient setting. RESULTS: Foam echoesclerotherapy with the angiographic catheter, preceded by saline anaesthetic tumescence yielded complete success rate with a single treatment session higher than the control group (80% versus 36%) with statistical significance (p = 0.012). There was improvement in quality of life in both groups (p < 0.001). There was no statistical difference between the groups in complication rates (p=0.584). CONCLUSIONS: Sclerotherapy with the long catheter, preceded of ultrasound-guided tumescence in the GSV compartment, is a safe and effective method. It yielded higher full success rate of the target vein with a single treatment session in comparison to the short catheter technique

O estresse oxidativo é um dos principais responsáveis pela produção de danos espontâneos no DNA, os quais podem levar à origem de diversas neoplasias, inclusive câncer de mama (CM). Além disso, dentre os diversos fatores de risco já estabelecidos para a ocorrência do CM em mulheres, como idade, hormônios, dieta e fatores genéticos, alguns tipos de lesões benignas mamárias também aparecem como importantes elementos predisponentes. Dessa forma, a pesquisa de genes envolvidos com a produção ou reparo de danos oxidativos, bem como o estudo de elementos bioquímicos relacionados à proteção antioxidante em pacientes com lesões malignas e benignas de mama são fundamentais para o entendimento do mecanismo geral que conduz ao estresse oxidativo no CM. Os objetivos deste estudo foram determinar a frequência dos polimorfismos Ser326Cys hOGG1 e Arg38Trp AHCY pela técnica de PCR-RFLP; avaliar os níveis sanguíneos de folato, vitamina B12 e glutationa peroxidase (GSH-Px); examinar o grau de lesões oxidativas espontâneas no DNA pelo Teste do Micronúcleo (MN), Índice de Divisão Nuclear (IDN) e Ensaio Cometa em linfócitos; e por fim, verificar se os polimorfismos e os elementos bioquímicos estudados exercem influência sobre tais danos oxidativos. Foram coletadas amostras de sangue periférico de 55 voluntárias sadias, 10 pacientes com adenose esclerosante (AE) e 54 pacientes com carcinoma ductal invasivo (CDI) não tratadas. Os polimorfismos foram analisados em todas as amostras. As análises bioquímica e citogenética foram realizadas numa sub-amostra composta por 21 mulheres sadias, 10 pacientes com AE e 14 pacientes com CDI. No Ensaio Cometa foi aplicada a endonuclease OGG1 para detecção de danos oxidativos. Não foi observada relação entre os alelos Ser326Cys hOGG1 e Arg38Trp AHCY e o risco de CM. O número de indivíduos portadores do alelo Arg38Trp AHCY foi insuficiente para as demais análises. Não houve deficiência ou excesso de folato e vitamina B12 entre as voluntárias. Pacientes com CDI apresentaram níveis de GSH-Px e frequência de MNs significativamente maiores do que mulheres sadias. Não houve associação entre o grau de danos espontâneos no DNA e risco de CM. O alelo Ser326Cys hOGG1 não interfere na produção de lesões espontâneas no DNA. O folato e a vitamina B12, em níveis normais, podem provocar instabilidade genômica em pacientes com AE. / Oxidative stress is one of the most important generators of DNA damage, which can lead to carcinogenesis of many cancer types, including breast cancer (BC). Several risk factors were established for occurrence of BC in women, such as age, hormones, diet and genetic factors, however, certain types of benign breast lesions also appear as important predisposing factors. Thus, the search for genes involved in production and repair of oxidative damage, as well as the study of biochemical elements related to the antioxidant protection in patients with malignant and benign breast lesions are fundamental for understanding the general mechanism leading to oxidative stress in the BC. The aims of this study were to determine the frequency of Ser326Cys hOGG1 and Arg38Trp AHCY genetic polymorphisms by PCR-RFLP to investigate their association with BC susceptibility; evaluate folate, vitamin B-12 and glutathione peroxidase (GSH-Px) blood levels; examine the extension of spontaneous oxidative damage in DNA by Micronucleus Test (MN), Nuclear Division Index (NDI) and Comet Assay with lymphocytes; and finally, verify if polymorphisms and biochemicals investigated may influence on oxidative damage. Peripheral blood samples of 119 volunteers were collected: 55 healthy women, 10 patients with sclerosing adenosis (SA) and 54 untreated patients with invasive ductal carcinoma (IDC). Molecular analysis was performed in all samples. Biochemical and cytogenetic analysis were performed on a sub-sample of 45 individuals comprised 21 healthy women, 10 AE patients and 14 ICD patients, chosen at random from the total samples. In Comet Assay, endonuclease OGG1 was applied to detect oxidative damage. No relationship was found between Ser326Cys hOGG1 and Arg38Trp AHCY alleles and risk for BC. The number of individuals carrying the allele Arg38Trp AHCY was insufficient for further analysis. There was no deficiency or excess in folate and vitamin B12 levels among the volunteers. GSH-Px levels and frequencies of MNs were significantly higher in ICD patients than healthy women. There was no association between the degree of spontaneous DNA damage and risk for BC. Ser326Cys hOGG1 allele does not interfere on production of spontaneous DNA lesions. Normal levels of vitamin B12 and folate may cause genomic instability in AE patients.

No description available.