Risk factors for pacemaker implantation following aortic valve replacement: a single centre experience.

Objective: To identify perioperative clinical predictors of permanent pacemaker implantation following aortic valve replacement.

Design And Patients: Prospective cohort study on 276 patients submitted for aortic valve replacement: 267 patients (mean (SD) age, 57.5 (14) years) with no conduction disturbances, and nine patients (67.

The Fanconi Anemia/BRCA signaling pathway: disruption in cisplatin-sensitive ovarian cancers.

Ovarian tumors often exhibit chromosome instability and hypersensitivity to the chemotherapeutic agent cisplatin. Recently, we have shown that this cellular phenotype may result from an acquired disruption of the Fanconi Anemia/BRCA (FA/BRCA) signaling pathway. Disruption results from methylation and silencing of one of the FA genes (FANCF), leading to cisplatin sensitivity.

Right ventricular myocardial adaptation to different training protocols in top-level athletes.

Objective: The aim of this study was to analyze right ventricular (RV) myocardial function in competitive athletes with left ventricular (LV) hypertrophy induced by either endurance or strength training.

Methods: Standard Doppler echo, maximal electrocardiogram (ECG) ergometric test, and pulsed tissue Doppler (TD) of LV mitral annulus and of RV tricuspid annulus were performed in 32 competitive endurance athletes (long-distance swimmers; ATE) and in 26 strength-trained athletes (short-distance swimmers; ATS), all males. By use of TD, the following parameters of myocardial function were assessed: systolic peak velocities (Sm), precontraction time, contraction time, early (Em) and late (Am) diastolic velocities, Em/Am ratio, and relaxation time.

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.

A 2-year old boy was diagnosed with Fanconi anemia (FA) and acute myeloid leukemia (AML). A cell line (termed FA-AML1) was established from blast cells obtained after a second relapse after a successful bone marrow transplant. Histochemical and surface marker analysis confirmed that the cells were derived from the myeloid lineage.

Carvedilol increases two-year survivalin dialysis patients with dilated cardiomyopathy: a prospective, placebo-controlled trial.

Objectives: We sought to evaluate the effects of carvedilol on mortality and morbidity in dialysis patients with dilated cardiomyopathy.

Background: Several lines of evidence support the concept that therapy with beta-blocking agents reduces morbidity and mortality in patients with congestive heart failure (HF), but the demonstration of such a survival benefit in dialysis patients with dilated cardiomyopathy is still lacking.

Methods: A total of 114 dialysis patients with dilated cardiomyopathy were randomized to receive either carvedilol or placebo in addition to standard therapy.

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.

Ovarian tumor cells are often genomically unstable and hypersensitive to cisplatin. To understand the molecular basis for this phenotype, we examined the integrity of the Fanconi anemia-BRCA (FANC-BRCA) pathway in those cells. This pathway regulates cisplatin sensitivity and is governed by the coordinate activity of six genes associated with Fanconi anemia (FANCA, FANCC, FANCD2, FANCE, FANCF and FANCG) as well as BRCA1 and BRCA2 (FANCD1).

Sustained-release diltiazem reduces myocardial ischemic episodes in end-stage renal disease: a double-blind, randomized, crossover, placebo-controlled trial.

End-stage renal disease (ESRD) patients receiving maintenance hemodialysis and suffering from coronary artery disease (CAD) often receive doses of calcium channel antagonists that are too low. This may be the result of physician's desire to avoid adverse side effects during hemodialysis. The aim of this study was the assessment of the safety and efficacy of incremental doses of diltiazem for the treatment of myocardial ischemia in ERSD patients with CAD to identify the optimal dose of the drug.

Different involvement of right ventricular myocardial function in either physiologic or pathologic left ventricular hypertrophy: a Doppler tissue study.

The aim of the study was to analyze right ventricular (RV) myocardial function in patients with left ventricular (LV) hypertrophy secondary to either hypertrophic cardiomyopathy (HC) or athletic endurance training. Doppler echocardiography and pulsed Doppler tissue imaging of the posterior septal wall, and mitral and tricuspid annulus were performed in 32 top-level endurance athletes (AT) and in 27 patients with HC, all men. LV mass index was comparable between the 2 groups.

The Fanconi anaemia/BRCA pathway.

Fanconi anaemia (FA) is a rare genetic cancer-susceptibility syndrome that is characterized by congenital abnormalities, bone-marrow failure and cellular sensitivity to DNA crosslinking agents. Seven FA-associated genes have recently been cloned, and their products were found to interact with well-known DNA-damage-response proteins, including BRCA1, ATM and NBS1. The FA proteins could therefore be involved in the cell-cycle checkpoint and DNA-repair pathways.

Regulation of the Fanconi anemia pathway by monoubiquitination.

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome characterized by multiple congenital anomalies, bone marrow failure, and cellular sensitivity to mitomycin C (MMC). To date, six FA genes have been cloned, and the encoded proteins function in a novel pathway. The FA pathway is required for the normal cellular response to DNA damage.

Interaction of FANCD2 and NBS1 in the DNA damage response.

Fanconi anaemia (FA) and Nijmegen breakage syndrome (NBS) are autosomal recessive chromosome instability syndromes with distinct clinical phenotypes. Cells from individuals affected with FA are hypersensitive to mitomycin C (MMC), and cells from those with NBS are hypersensitive to ionizing radiation. Here we report that both NBS cell lines and individuals with NBS are hypersensitive to MMC, indicating that there may be functional linkage between FA and NBS.

Marrow failure.

This chapter describes the clinical presentation and molecular basis of two inherited bone marrow failure syndromes, Fanconi anemia (FA), and Diamond-Blackfan anemia (DBA). It also provides an update on diagnostic and therapeutic approaches to bone marrow failure of all types (inherited and acquired) in pediatric patients. In Section I, Dr.

Association between left ventricular structure and cardiac performance during effort in two morphological forms of athlete's heart.

Aim: The aim of the study was to evaluate in 263 competitive athletes possible correlations between changes induced by different sport activities in left ventricular (LV) structure and cardiac response during maximal physical effort.

Methods: A total of 160 top-level endurance athletes (ATE; swimmers, runners; 28+/-4 years; 98 male) and 103 strength-trained athletes (ATS; weight-lifters, body-builders; 27+/-5 years; male), selected on the basis of training protocol (dynamic vs. static exercise), underwent standard Doppler echocardiography, heart rate variability analysis and maximal exercise stress test by bicycle ergometry.

A novel diagnostic screen for defects in the Fanconi anemia pathway.

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. Although patients with FA are candidates for bone marrow transplantation or gene therapy, their phenotypic heterogeneity can delay or obscure diagnosis. The current diagnostic test for FA consists of cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) or mitomycin C (MMC).

BRCA1 interacts directly with the Fanconi anemia protein FANCA.

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by skeletal defects, anemia, chromosomal instability and increased risk of leukemia. At the cellular level FA is characterized by increased sensitivity to agents forming interstrand crosslinks (ICL) in DNA. Six FA genes have been cloned and interactions among individual FANC proteins have been found.

The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.

Fanconi anemia is an autosomal recessive disorder characterized by aplastic anemia, cancer susceptibility, and cellular sensitivity to mitomycin C. The 6 known Fanconi anemia gene products (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG proteins) interact in a common pathway. The monoubiquitination and nuclear foci formation of FANCD2 are essential for the function of this pathway.

S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51.

Fanconi anemia (FA) is a human autosomal recessive cancer susceptibility disorder characterized by cellular sensitivity to mitomycin C and defective cell-cycle progression. Six FA genes (corresponding to subtypes A, C, D2, E, F, and G) have been cloned, and the encoded FA proteins interact in a common pathway. DNA damage activates this pathway, leading to monoubiquitination of the downstream FANCD2 protein and targeting to nuclear foci containing BRCA1.

Assessment of accessory atrioventricular pathways by Doppler myocardial imaging.

Purpose: The use of electrophysiologic studies (EPS) for the localization of accessory atrioventricular connections in Wolff-Parkinson-White syndrome (WPW) requires accurate evaluation of the site of bypass tract insertion. Doppler myocardial imaging (DMI) is a new ultrasound technique that allows the detection of abnormal and early regional myocardial depolarization. The purpose of this study was to identify an abnormal pathway site in WPW patients.

Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways.

Fanconi anemia (FA) and ataxia telangiectasia (AT) are clinically distinct autosomal recessive disorders characterized by spontaneous chromosome breakage and hematological cancers. FA cells are hypersensitive to mitomycin C (MMC), while AT cells are hypersensitive to ionizing radiation (IR). Here, we identify the Fanconi anemia protein, FANCD2, as a link between the FA and ATM damage response pathways.

Biallelic inactivation of BRCA2 in Fanconi anemia.

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins.

Ventricular interdependence in patients with dual-chamber pacing: a Doppler tissue imaging study.

Purpose: To analyze pulsed-Doppler tissue imaging (DTI) of the right ventricular (RV) tricuspid annulus and left ventricular (LV) mitral annulus in patients paced in the DDD mode at three different pacing modes as compared with healthy subjects, and to investigate possible physiologic interaction between the RV and LV in this subgroup of patients.

Methods: We selected a population of 22 subjects with pacemakers (PM) for atrioventricular (AV) block and/or sick sinus syndrome and compared them to 20 healthy subjects. Standard echo Doppler and DTI parameters were measured at baseline (heart rate [HR] 70 beats/min; AV delay 125 msec) and after at least 5 minutes of constant stimulation at two different pacing modes: (1) HR 70 beats/min, AV delay 188 msec, and (2) HR 89 beats/min, AV delay 125 msec.

Involvement of right ventricle in left ventricular hypertrophic cardiomyopathy: analysis by pulsed Doppler tissue imaging.

Aims: This study uses pulsed Doppler tissue imaging to analyse right ventricular myocardial function and its interaction with left ventricle in hypertrophic cardiomyopathy involving ventricular septum.

Methods And Results: Thirty-four patients with septal hypertrophic cardiomyopathy and 30 normal subjects, comparable for sex, age, body mass index and heart rate, underwent complete standard Doppler echocardiography and pulsed Doppler tissue imaging of both posterior septum and right ventricular free wall, calculating myocardial velocities and both systolic and diastolic time intervals. Except for peak velocity A, the other Doppler tricuspid inflow measurements were significantly impaired in hypertrophic cardiomyopathy, without changes of tricuspid annular systolic excursion.

Effects of different training protocols on left ventricular myocardial function in competitive athletes: a Doppler tissue imaging study.

Background: The aim of the study was to analyze the differences in myocardial function in case of left ventricular (LV) hypertrophy induced by either endurance or strength training in top-level athletes.

Methods: Standard Doppler echo and pulsed Doppler tissue imaging (DTI) of the interventricular septum and of the LV inferior wall were performed in 26 competitive endurance athletes (long-distance swimmers) (group A) and in 20 strength-trained athletes (short-distance swimmers) (group B). By means of DTI, the following parameters of myocardial function were assessed: the systolic peak velocities (Sm), the pre-contraction time, the contraction time, the early (Em) and late (Am) diastolic velocities, the Em/Am ratio and the relaxation time.