RESUMO
Large cell calcifying sertoli cell tumor (LCCSCT) is an exceptionally rare neoplasm originating from sperm cord cells. The tumors have relatively low malignant potential and unlikely proceed to metastasis formation. The lesions may occur in an isolated form or in ca. 40% of cases may be associated with genetic abnormalities, by and large Peutz-Jeghers syndrome and Carney complex. At presentation, 20% of LCCSCT cases are bilateral and/or multifocal. Owning to characteristic skin lesions and particular hyperechoic ultrasound image of the tumor, preliminary diagnosis of the syndromic LCCSCT is possible in the preoperative period. Consequently, testicle organ-sparing procedure can be attempted, which is especially justified in bilateral lesions. Here, we report a case of a bilateral LCCSCT in a 20-year-old man with atypical Peutz-Jeghers syndrome due to amplification of the exon 1 of STK11 gene who was successfully treated with bilateral testicle-sparing tumorectomies.
Assuntos
Calcinose/cirurgia , Orquiectomia/métodos , Síndrome de Peutz-Jeghers/complicações , Tumor de Células de Sertoli/cirurgia , Neoplasias Testiculares/cirurgia , Quinases Proteína-Quinases Ativadas por AMP , Calcinose/complicações , Calcinose/patologia , Diagnóstico Diferencial , Humanos , Masculino , Técnicas de Amplificação de Ácido Nucleico , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genética , Tumor de Células de Sertoli/complicações , Tumor de Células de Sertoli/patologia , Neoplasias Testiculares/complicações , Neoplasias Testiculares/patologia , Adulto JovemAssuntos
Aminoquinolinas/administração & dosagem , Aminoquinolinas/uso terapêutico , Antineoplásicos/administração & dosagem , Antineoplásicos/uso terapêutico , Doença de Bowen/tratamento farmacológico , Pênis , Neoplasias Cutâneas/tratamento farmacológico , Administração Tópica , Humanos , Imiquimode , Masculino , Resultado do Tratamento , Adulto JovemRESUMO
Nowadays, bioinformatics offers advanced tools and procedures of data mining aimed at finding consistent patterns or systematic relationships between variables. Numerous metabolites concentrations can readily be determined in a given biological system by high-throughput analytical methods. However, such row analytical data comprise noninformative components due to many disturbances normally occurring in analysis of biological samples. To eliminate those unwanted original analytical data components advanced chemometric data preprocessing methods might be of help. Here, such methods are applied to electrophoretic nucleoside profiles in urine samples of cancer patients and healthy volunteers. The electrophoretic nucleoside profiles were obtained under following conditions: 100 mM borate, 72.5 mM phosphate, 160 mM SDS, pH 6.7; 25 kV voltage, 30 degrees C temperature; untreated fused silica capillary 70 cm effective length, 50 microm I.D. Different most advanced preprocessing tools were applied for baseline correction, denoising and alignment of electrophoretic data. That approach was compared to standard procedure of electrophoretic peak integration. The best results of preprocessing were obtained after application of the so-called correlation optimized warping (COW) to align the data. The principal component analysis (PCA) of preprocessed data provides a clearly better consistency of the nucleoside electrophoretic profiles with health status of subjects than PCA of peak areas of original data (without preprocessing).
Assuntos
Biomarcadores Tumorais/urina , Eletroforese Capilar/métodos , Neoplasias/urina , Nucleosídeos/urina , Biologia de Sistemas , Algoritmos , Interpretação Estatística de Dados , Humanos , Neoplasias/metabolismo , Projetos Piloto , Análise de Componente Principal , Valores de Referência , Reprodutibilidade dos Testes , Biologia de Sistemas/métodosRESUMO
BACKGROUND: Germline mutations in the Chek2 kinase gene (CHEK2) have been associated with a range of cancer types. Recently, a large deletion of exons 9 and 10 of CHEK2 was identified in several unrelated patients with breast cancer of Czech or Slovak origin. The geographical and ethnic extent of this founder allele has not yet been determined. PARTICIPANTS AND METHODS: We assayed for the presence of this deletion, and of three other CHEK2 founder mutations, in 1864 patients with prostate cancer and 5496 controls from Poland. RESULTS: The deletion was detected in 24 of 5496 (0.4%) controls from the general population, and is the most common CHEK2 truncating founder allele in Polish patients. The deletion was identified in 15 of 1864 (0.8%) men with unselected prostate cancer (OR 1.9; 95% CI 0.97 to 3.5; p = 0.09) and in 4 of 249 men with familial prostate cancer (OR 3.7; 95% CI 1.3 to 10.8; p = 0.03). These ORs were similar to those associated with the other truncating mutations (IVS2+1G-->A, 1100delC). CONCLUSION: A large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men. The del5395 founder deletion might be present in other Slavic populations, including Ukraine, Belarus, Russia, Baltic and Balkan countries. It will be of interest to see to what extent this deletion is responsible for the burden of prostate cancer in other populations.
Assuntos
Deleção de Genes , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias da Próstata/genética , Proteínas Serina-Treonina Quinases/genética , Quinase do Ponto de Checagem 2 , Análise Mutacional de DNA , Éxons , Frequência do Gene , Testes Genéticos , Genótipo , Humanos , Masculino , Linhagem , PolôniaRESUMO
The prevalence of erectile dysfunction (ED) in men visiting outpatient clinics was analyzed using data reported by 1352 randomly chosen physicians who were requested to interview five to 20 consecutive patients aged >or=40 years about the presence of ED. A total of 25.12% of the physicians returned the questionnaires, containing data on 3552 patients, of whom 42.7% had ED, 44.9% had no ED and 12.4% declined to answer the questions. The duration of ED was <1 year in 8.1% of patients, 1-2 years in 32.2% and >2 years in 59.7% of patients. 86.4% of men with ED had >or=1 chronic disease. ED was present in 70.3% of men with coronary heart disease, 67.8% of those with hypertension, 78% of those with diabetes and 70.5% of patients with psychiatric diseases. 93.2% of patients with ED used one or more drugs chronically. In conclusions, 42.7% of men visiting outpatient clinics had ED. Patients with ED often had one or more chronic diseases and used at least one drug chronically. Older patients are less inclined to talk to their physicians about sexual problems.
Assuntos
Instituições de Assistência Ambulatorial , Disfunção Erétil/epidemiologia , Adulto , Fatores Etários , Idoso , Doença Crônica , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Médicos de Família , Polônia/epidemiologia , Prevalência , Fatores de TempoRESUMO
Common molecular changes in cancer cells are high carbon flux through the glycolytic pathway and overexpression of fatty acid synthase, a key lipogenic enzyme. Since glycerol 3-phosphate dehydrogenase creates a link between carbohydrates and the lipid metabolism, we have investigated the activity of glycerol 3-phosphate dehydrogenase and various lipogenic enzymes in human bladder cancer. The data presented in this paper indicate that glycerol 3-phosphate dehydrogenase activity in human bladder cancer is significantly higher compared to adjacent non-neoplastic tissue, serving as normal control bladder tissue. Increased glycerol 3-phosphate dehydrogenase activity is accompanied by increased enzyme activity, either directly (fatty acid synthase) or indirectly (through ATP-citrate lyase, glucose 6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase and citrate synthase) involved in fatty acid synthesis. Coordinated upregulation of glycerol 3-phosphate dehydrogenase and lipogenic enzymes activities in human bladder cancer suggests that glycerol 3-phosphate dehydrogenase supplies glycerol 3-phosphate for lipid biosynthesis.
Assuntos
Glicerolfosfato Desidrogenase/metabolismo , Lipídeos/biossíntese , Neoplasias da Bexiga Urinária/enzimologia , ATP Citrato (pro-S)-Liase/metabolismo , Citrato (si)-Sintase/metabolismo , Ácido Graxo Sintases/metabolismo , Glucosefosfato Desidrogenase/metabolismo , Glicerol-3-Fosfato Desidrogenase (NAD+) , Humanos , Fosfogluconato Desidrogenase/metabolismoRESUMO
We are reporting the case of a parapubic hernia that occurred after radical prostatectomy. This kind of the hernia is caused by the weakening of the attachments of rectus muscles to the pubic bone. Because of its location, it may be misdiagnosed as a far more common direct inguinal hernia. A laparoscopic approach made it possible to precisely diagnose and repair the defect in the abdominal wall.
Assuntos
Hérnia Ventral/cirurgia , Laparoscopia/métodos , Prostatectomia/efeitos adversos , Seguimentos , Hérnia Ventral/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prostatectomia/métodos , Neoplasias da Próstata/cirurgia , Osso Púbico , Resultado do TratamentoRESUMO
We present laparoscopic method of treatment of parapubic hernia that may occur after radical prostatectomy performed due to prostatic cancer. This kind of hernia is closely related to the weakening of the rectus muscle of abdomen insertions to the pubic bone that takes place during the operations using lower midline incision in order to reach organs in the small pelvis. Because of its localization it may be misdiagnosed as a commoner direct inquinal hernia. In this case the traditional anterior approach would not be curative. Using laparoscopy as it is suggested by authors will make the proper diagnosis much more easy and thus will enable effective treatment of the patient.