Renal dysplasia associated with ureteral ectopia and ipsilateral seminal vesicle cyst

The simultaneous presence of renal aplasia/dysplasia, ureteral ectopia and seminal vesicle cyst represents an exceptionally rare malformation. The literature is reviewed here and a new case of such malformation, concerning a 45-year-old man affected by recurrent epididymitis, is reported.     

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

Background: Brugada syndrome predisposes some subjects to ventricular tachyarrhythmias and sudden cardiac death. Mutations in SCN5A gene have been associated with ∼25% of Brugada syndrome patients. A common variant in SCN5A, H558R has shown to improve sodium channel activity in mutated channels. We studied whether common variant H558R has any clinical implications in the phenotype of Brugada syndrome.
Methods: Our study population consisted of Brugada syndrome subjects 75 with SCN5A mutation and 92 without SCN5A mutation. Their mean age was 39 ± 15 and 42 ± 17 years, and 65% and 86% were male, respectively. We measured PR-, QRS-, QTc-intervals from leads II and V2 of the 12-lead ECG. We also evaluated J-point amplitude from lead V2 and R'/S ratio from lead aVR (the "aVR sign"). The H558R (A→G) genotype was detected with direct sequencing of the SCN5A gene.
Results: The AA genotype carriers had longer QRS duration in lead II (P = 0.017) and higher J-point elevation in lead V2 (P = 0.013), higher "aVR sign" (P = 0.005) and a trend toward more subjects with symptoms (P = 0.067) than G allele carriers. None of the results were significant in Brugada syndrome subjects without SCN5A mutation.
Conclusion: The common variant H558R seems to be a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation, in whom the presence of the less common allele G improves the ECG characteristics and clinical phenotype.     

Effects of Cardiac Resynchronization Therapy on Diastolic Function: Evaluation by Radionuclide Angiography

While the beneficial effects of cardiac resynchronization therapy (CRT) on left ventricular (LV) systolic function have been demonstrated, no information is available regarding its effects on LV diastolic function during exercise. Using radionuclide angiography, we prospectively evaluated the effects of CRT on diastolic function at rest and during exercise in 15 patients consecutively referred for CRT. All patients underwent equilibrium Tc⁹⁹ radionuclide angiography with bicycle exercise performed (1) at baseline; (2) immediately after CRT implantation, in spontaneous rhythm and during CRT; and (3) after 3 months of biventricular stimulation. Diastolic function was assessed by measurements of peak filling rate (PFR). At baseline, activation of biventricular stimulation influenced PFR neither at rest (1.06 ± 0.34 vs 1.07 ± 0.50 mL/s during spontaneous rhythm, P = 0.9) nor during exercise (1.45 ± 0.62 vs 1.33 ± 0.48 mL/s, P = 0.3). At 3 months, improvements were observed in New York Heart Association functional class and systolic function. By contrast, no improvement in diastolic function was observed either at rest (PFR = 1.11 ± 0.45 vs 1.07 ± 0.50 mL/s in spontaneous rhythm at baseline, P = 0.6) or during exercise (1.23 ± 0.50 vs 1.33 ± 0.48 mL/s, P = 0.2). These observations indicate that the intermediate benefits conferred by CRT on LV systolic function at rest and during exercise were not accompanied by similar improvements in diastolic function .     

Hepatocellular carcinoma in cirrhotic liver in Trieste

One hundred consecutive cases of hepatocellular carcinoma (HCC) in cirrhosis observed at autopsy were studied and their pathological aspects were compared with those reported in the literature. The results, which are representative of HCC epidemiology in a geographical area where cirrhosis is mostly due to alcohol abuse, show that similarities in the architectural pattern of HCC and weight of the liver exist between our material and samples with different aetiology and epidemiology. A relationship between the histological grade of HCC and its propensity to metastasize was demonstrated. The reported better prognosis of clear cells per se could not be confirmed, although clear cell HCC occurred exclusively in grade 2. It was also demonstrated that the relationship between grading and staging was strongly influenced by the association of HCC with cirrhosis, which is a fact that is usually overlooked by the common staging (and grading) methods.     

Spinal Cord Stimulation and 30-Minute Heart Rate Variability in Refractory Angina Patients

Background: Spinal cord stimulation (SCS) has proven antianginal and antiischemic effects in severe coronary artery disease patients, minimizing frequency, intensity, and duration of pain. The mechanism explaining these effects has been detected in a sympathicolytic effect of the SCS. We monitored 30-minute-long recordings of the heart rate variability (HRV) and its spectral power parameters to evaluate the influence of SCS on the sympathetic/parasympathetic balance .
Methods and Results: Eight patients underwent HRV recordings in controlled environmental conditions. The patients were seated in a relaxed position and isolated from external contacts. During three consecutive 30-minute periods, the SCS was programmed, in a randomized fashion, to stimulate at a level generating paresthesias (ON), at a subliminal level (SUB, amplitude 80% of ON), or switched off (OFF). The low-frequency/high-frequency ratio during stimulation (ON) was significantly lower compared to that found while the SCS was turned OFF (0.54, 0.35–1.04 vs 1.21, 0.80–2.48; P = 0.036). The stimulation resulted in a median 52% (33–65%) reduction of the sympathetic activity compared to basal (ON vs OFF, P = 0.049).
Conclusion: No difference emerged instead comparing OFF versus SUB (P = 0.575). The stimulation effect was not influenced by the randomized sequence. Thirty-minute SCS significantly influenced the sympathetic/parasympathetic balance reducing sympathetic modulation.     

Predictors of Mortality and Hospitalization for Cardiac Causes in Patients with Heart Failure and Nonischemic Heart Disease: A Subanalysis of the ALPHA Study

Background: Several studies have searched for predictors of clinical outcome in patients with heart failure (HF). However, since they were collected in clinical trials, most data were subject to selection biases and do not specifically apply to patients with nonischemic heart disease. This study examined the impact of several variables on combined all-cause mortality and hospitalization for cardiac causes, in consecutive ambulatory patients with HF included in the ALPHA registry.
Methods and Results: This analysis included 446 patients with HF and nonischemic heart disease, in New York Heart Association functional class II or III, and a left ventricular (LV) ejection fraction below 40%. In 126 patients (73%) the disease was idiopathic dilated cardiomyopathy, in 72 (16%) hypertensive, in nine (2%) valvular, and in 39 (9%) of other etiologies. The median age was 61 years (range 51–69 years) and 349 (78%) patients were men. Over a median follow-up of 31 months (range 23–40), 82 patients (18%) died or were hospitalized for cardiac causes. In a proportional hazard (Cox) regression model, maximal oxygen consumption (HR 0.9, P = 0.001), LV end-diastolic diameter (HR 1.07, P < 0.001), resting systolic blood pressure (HR 0.97, P < 0.005), and hemoglobin (HR 0.86, P < 0.05) were independent predictors of the combined study endpoint.
Conclusions: In an unselected population of patients with HF and nonischemic heart disease, a reduced exercise capacity, large LV end-diastolic diameter, low systolic blood pressure, and hemoglobin were correlated with long-term all-cause mortality or hospitalization for cardiac causes. These observations may help stratifying and tailoring the treatment of patients with HF and nonischemic heart disease.