A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.

Lynch syndrome is caused by germline mutations in 1 of the 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). Mutations in MSH2 cause concomitant loss of hMSH6, whereas MLH1 mutations lead to concurrent loss of PMS2. Much less frequent mutations in MSH6 or PMS2 are associated with the isolated loss of the corresponding proteins.

Renal function-adjusted contrast volume redefines the baseline estimation of contrast-induced acute kidney injury risk in patients undergoing primary percutaneous coronary intervention.

Background: Age, estimated glomerular renal function (eGFR), and ejection fraction are preprocedural predictors of contrast-induced acute kidney injury (CI-AKI) after primary percutaneous coronary intervention. The effect of renal function-adjusted contrast volume (CV) remains not totally explored, and a threshold has not yet been established.

Methods And Results: Logistic regression and receiver-operating characteristic curve analyses were used to assess whether CV/eGFR was an independent predictor of CI-AKI.

Phosphorylation of tropomodulin1 contributes to the regulation of actin filament architecture in cardiac muscle.

Tropomodulin1 (Tmod1) is an actin-capping protein that plays an important role in actin filament pointed-end dynamics and length in striated muscle. No mechanisms have been identified to explain how Tmod1's functional properties are regulated. The purpose of this investigation was to explore the functional significance of the phosphorylation of Tmod1 at previously identified Thr54.

An unusual case of familial adenomatous polyposis with very early symptom occurrence.

We report the clinical case of a patient who showed an "accelerated" form of polyposis, with development of major lesions within the first decade of life. The patient belongs to a familial adenomatous polyposis family-already described in 2001-featured by profuse polyposis at an early age of onset and desmoid tumors in the majority of affected individuals (of both sexes). The family was characterized by an uncommon mutation of the APC gene (c.

P-wave voltage and peaking on electrocardiogram in patients undergoing head-up tilt testing for history of syncope.

Background: Only scanty data are available in the literature on P-wave (PW) morphology at ECG in patients with history of vasovagal syncope undergoing diagnostic functional testing. In this study, we evaluated resting and head-up tilt testing (HUTT) related changes in PW voltage (PWV) and duration (PVD) and their relationship with triggered syncope.

Methods: 55 patients, mean aged 41 ± 19 y (35 F), without patent heart disease or neuropathy, underwent potentiated HUTT according to the Italian protocol.

Coronary spasm and myocardial bridging: an elusive pathophysiological mechanism leading to apical ballooning syndrome?

Apical ballooning syndrome or Takotsubo-like cardiomyopathy is an acute syndrome characterized by normal or near-normal coronary arteries, regional wall motion abnormalities that extend beyond a single coronary vascular bed and, often, a precipitating stressor. We observed a case of an elderly lady with Takotsubo-like left ventricular dysfunction in whom both left anterior descending artery and diagonal branch coronary artery reversible spasm and myocardial bridging were demonstrated at the time of acute cardiac catheterization. It is a common observation that a combination of multiple pathophysiological mechanisms may produce a clinically similar picture.

Extrinsic pulmonary stenosis in primary mediastinal B-cellular lymphoma.

We describe the case of a 34-year-old man with a history of asthenia and excessive fatigability. Transthoracic echocardiography showed a mass in the right ventricular outflow tract with a peak systolic gradient of 52 mmHg. Contrast-enhanced CT confirmed the presence of a lobulated mass, which extensively filled the anterior mediastinum, infiltrating the pulmonary artery trunk up to occupying the right ventricular outflow tract.

Colorectal cancer screening practices in Saskatchewan: Survey of family physicians.

Objective: To evaluate current colorectal cancer (CRC) screening practices in Saskatchewan and identify barriers to screening with the goal of improving current practice.

Design: Survey of family physicians.

Setting: Saskatchewan.

Angiopoietin 1 and angiopoietin 2 are associated with medial thickening of hepatic arterial branches in biliary atresia.

Background: Biliary atresia (BA) is an infantile disorder characterized by progressive sclerosing cholangiopathy leading to biliary obstruction. First-line treatment of BA is hepatoportoenterostomy, the prognosis of which is related to age at surgery and to histological variables such as extent of fibrosis and ductular reaction. Hepatic arterial medial thickening (MT) suggests an arteriopathy in BA pathogenesis.

Asymptomatic Left Ventricular Dysfunction and Metabolic Syndrome: Results from an Italian Multicenter Study.

Context: Metabolic syndrome (MS) is a cluster of interrelated common clinical disorders, including obesity, insulin resistance, glucose intolerance, hypertension and dyslipidemia, associated with a greater risk of atherosclerotic cardiovascular disease than any of its individual components. Although MS is associated with increased cardiovascular risk (CVR), its relationship with heart failure (HF) and left ventricular (LV) dysfunction is not fully understood.

Aims: We sought to determine whether MS is associated to LV systolic and diastolic dysfunction in a sample of patients with MS and no symptoms for HF.

Incidence trend of malignant polyps through the data of a specialized colorectal cancer registry: clinical features and effect of screening.

Objectives: The purposes of the study are to describe the incidence trend of malignant polyp of large bowel over a 25-year period in the District of Modena and to assess the effect of an organized colorectal cancer screening program.

Material And Methods: Through the data of a specialized colorectal cancer Registry, we evaluate the clinical and pathological features of the polyps. Trend analysis was assessed with the Joinpoint Regression Program.

Absence of viable HCC in the native liver is an independent protective factor of tumor recurrence after liver transplantation.

Background: Prognostic factors for hepatocellular carcinoma (HCC) recurrence after liver transplantation (LT) are still a matter of debate. The absence of viable tumor in the native liver, due to effectiveness of pre-LT locoregional treatment or liver resection, is an intriguing prognostic factor that had never been evaluated.

Methods: Between November 2000 and December 2011, 210 LTs were performed in patients with evidence of HCC and cirrhosis.

Incidence, clinical features and possible etiology of early onset (≤40 years) colorectal neoplasms.

The aim of the study was to investigate the clinical features, including survival, of patients with colorectal malignancies developed at a very early age (≤40 years), together with possible factors involved in the pathogenesis of these rare neoplasms. The study took advantage of the existence of a specialized colorectal cancer Registry active from 1984. 57 patients met the criteria of early onset cancer; main epidemiological data, morphology, stage, familial aggregation, possible role of inheritance and survival were analyzed.

Adult ECG criteria for left ventricular hypertrophy in young competitive athletes.

Time-tested data indicate that ECG diagnosis of left ventricular hypertrophy in young athletes is challenging due to low sensitivity of the commonly used criteria. We sought to establish whether adult ECG criteria can be appropriate to make diagnosis of both common and uncommon patterns of left ventricular hypertrophy in young trained athletes. A total of 122 athletes, ages 16.

Genistein and endothelial function in postmenopausal women with metabolic syndrome.

Background: Previous data have suggested that genistein could exert beneficial effects on endothelial function and on predictors of cardiovascular risk in healthy postmenopausal women. In a randomized clinical trial, we studied the effects of genistein on endothelial function in postmenopausal women with metabolic syndrome (MS).

Methods: Twenty postmenopausal women with MS, according to modified NCEP-ATP III criteria were randomly assigned to receive placebo or genistein (54 mg/day) for 6 months, along with a Mediterranean-style diet.

Early identification of cardiovascular involvement in patients with β-thalassemia major.

The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and echo-tracking in patients with asymptomatic β-thalassemia major (β-TM) without significant myocardial iron overload to determine whether early subclinical cardiovascular abnormalities would be detectable. We enrolled 32 patients with β-TM (23 women, mean age 35 ± 8 years) and 33 healthy volunteers (20 women, mean age 35 ± 6 years). All subjects underwent echocardiography with 2-dimensional strain analysis (XStrain) and ultrasonography of the carotid arteries with measurement of the stiffness parameters (ProSound Alpha 10).

Genistein in the metabolic syndrome: results of a randomized clinical trial.

Context: This study was performed to evaluate the effects of genistein on metabolic and cardiovascular risk factors in Caucasian postmenopausal subjects with metabolic syndrome (MetS).

Objective: Our objective was to assess the effects of genistein on surrogate endpoints associated with diabetes and cardiovascular disease.

Design And Setting: This was a randomized, double-blind, placebo-controlled trial at 3 university medical centers in Italy.

Preparation of developing Xenopus muscle for sarcomeric protein localization by high-resolution imaging.

Mutations in several sarcomeric proteins have been linked to various human myopathies. Therefore, having an in vivo developmental model available that develops quickly and efficiently is key for investigators to elucidate the critical steps, components and signaling pathways involved in building a myofibril; this is the pivotal foundation for deciphering disease mechanisms as well as the development of myopathy-related therapeutics. Although striated muscle cell culture studies have been extremely informative in providing clues to both the distribution and functions of sarcomeric proteins, myocytes in vivo develop in an irreproducible 3D environment.

Lymph node evaluation in stage IIA colorectal cancer and its impact on patient prognosis: a population-based study.

Background: The analysis of regional lymph nodes is particularly relevant in patients with stage II colorectal cancer, in whom the role of adjuvant chemotherapy remains unclear. The aim of this study was to assess the relationship between number of examined lymph nodes and survival in patients with stage IIA (pT3N0M0) colorectal cancer, and to determine the optimal number of lymph nodes that should be examined.

Methods: The study group included all the surgically-treated colorectal cancer patients in stage IIA (n = 657) who were identified through the population-based Cancer Registry of the Province of Modena (Northern Italy), during the period 2002-2006.