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Primary cardiac lymphomas are rare entities (1.3% of all primary cardiac tumors) of difficult clinical identification. We report a case of a primitive cardiac lymphoma in a 35-year-old immunocompetent patient, presenting with signs and symptoms of cardiac tamponade. Echocardiography revealed a lateral atrioventricular mass associated with large pericardial effusion. After pericardiocentesis, surgical excision was performed. Chemotherapy regimens were administered according to established protocols and were effective in inducing complete remission at 6 months.

The onset in elderly subjects of clinical signs of chronic venous insufficiency (CVI), without a previous history of venous disease of the lower limbs, raises questions about the etiology. In our study we evaluated the possible causes investigating the venous system of the lower limbs and right heart function in elderly subjects with signs of CVI. The alterations found were on the reduction of TAPSE, a significantly higher body mass index and a reduced ability to walk compared to the control group. The differences described could explain edema and skin changes of recent onset. If it is CVI functional type or of congestive heart failure in the preclinical stage will be clarified only by adequate follow-up.

Bicuspid valve aortic (BVA) is one of the most common congenital malformations. Only 20% of patients preserves a normal valve function throughout life. There are sporadic and familial forms, the latter to autosomal dominant. We present a case of familiarity of BVA high penetrance. Patient with aortic stenosis by BVA, is the father of two children with BVA.

Insulin resistance and endothelial dysfunction are major cardiovascular risk factors. The purpose of this study was to determine whether only patients with insulin resistance also have an alteration of endothelial function assessed by ultrasound flow-mediated (FMD). In a population of 165 patients, 30 subjects had only a family history of diabetes and/or sporadic findings of hypoglycemia, and they were assessed for FMD, the glucose and insulin curve. Of these 30 subjects, 20 patients had an alteration of the parameters measured and were related with 20 healthy patients. The study group and the control group showed a markedly significant statistical difference in the performance of the curve insulin, in the calculation of FMD and HOMA. FMD allows to study populations with no apparent cardiovascular risk and to monitor the effectiveness of possible endothelial protective therapy.

Lifestyle, health and cardiovascular risk: the results of the study "Rischio & Prevenzione". The substantial agreement of the recommendations aimed to promote the so called "healthy lifestyle habits" dose not coincide to a rebut body of evidences on the transferability of the guidelines into daily conditions of care. The large cohort of ~12.000 patients included in a prospective-observational and experimental study conducted by a country-wide network of 860 Italian General Practitioners, provided the opportunity of testing the yield of the broad spectrum of life habits found across ages (>55 years, sex, regions, on the prognosis for fatal and not fatal events). While documenting and quantifying over the relative short period of time of the study (~ 4 years) the highly significant advantage of each of the components (diet and physical exercise) of the habits, as well as their combination, the study could be the sum as specifically important for two more general reasons: a) it is the general practice based documentation of the public health importance of recommendations in an adult old population; b) the instruments developed and tested to qualify-quantify the risk profiles are specifically praticable in the busy setting of daily care.

Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome predisposes to various clinical problems such as intussusception and cancer development in different loci (gastrointestinal tract, breast and ovary). For this reason, PJS patients should undergo a surveillance protocol of the genital and gastrointestinal apparatus. Therefore, the early diagnosis of PJS in at-risk family members is very important in preventing cancer development. Germline mutations within the LKB1 or Serine Threonine Kinase (STK11) gene, located on chromosome 19p13.3, are responsible for most cases of PJS so far studied. The existence of a second locus is suspected on chromosome 19q13.4 in a minority of families. The LKB1 gene, recently cloned, encodes the Serine Threonine Kinase LKB1 and is ubiquitously expressed. The identification of the disease-causing mutation in each family makes it possible to perform a presymptomatic diagnosis; therefore, only the mutation carriers will undergo the clinical surveillance program. In this paper, the case of a PJS patient who has been surgically treated is presented. The DNA screening of the LKB1 gene in this patient has led to the identification of the causing mutation. A critical review of the literature and is also presented as well as the proposal to establish an Italian Registry of PJS.

Germline mutations of the Adenomatous polyposis gene (APC) are responsible for Familial Adenomatous Polyposis (FAP), an inherited condition that predisposes to the development of hundreds to thousands benign adenomas in the colo-rectum. If not surgically removed, they inevitably progress into malignant adenocarcinoma. To date more than 450 germline mutations have been described allowing the establishment of genotype/phenotype correlation between the site and type of molecular defects and their morbid consequences. Authors reviewed their experience concerning 22 FAP affected patients and their 26 first degree relatives, in whom the mutational analysis of the APC gene had been carried out. Site and type of mutations were associated with clinical parameters (age of onset, rectal involvement, extracolonic manifestations, presence of colorectal cancer) and treatments. The impact of mutational analyses on the clinical approach could be very interesting in the future, modifying both surveillance programs and therapeutical choices.