Haematological phenotypes in a family with triplicated α-globin gene, β∘39 and δ+27 thalassaemia mutations

Summary In this paper we report an unusual Sardinian family, in which the heterozygosity for β°₃₉-thalassaemia and for triple α-globin gene complex have been found in two members: the former showing a high HbA₂ mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA₂ thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a δ⁺_27-thalassaemia point mutation, which in trans to the β°₃₉ defect invariably normalizes the HbA₂ levels.     

Doppler ultrasound evaluation of acute effects of cigarette smoking on portal blood flow in man

The acute systemic haemodynamic effects of cigarette smoking are well known, but there are no studies dealing with the possible smoke-related acute changes of splanchnic circulation in man. In the present study we evaluated the acute effects of cigarette smoking on portal blood flow (PBF) in normal subjects by the use of Doppler ultrasound. Twenty-three normal volunteers were asked to smoke two cigarettes with a known total nicotine content (1.1 mg each) in a supine position. Each cigarette was smoked during a 5 min period and a 5 min interval between the two cigarettes was allowed. Both mean PBF velocity and volume were evaluated at time 0 (basal values) and 8, 15, 30, 45 and 60 min after the first inhalation of the first cigarette. The basal mean PBF velocity (22 cm/s; 95% CI 20.9–24.2) was significantly decreased at 8 min (19 cm/s; 95% CI 17.9–20.8; P< 0.0007) and 15 min (20 cm/s; 95% CI 17.8–21.3; P< 0.005). Similarly, the PBF volumes at 8 min (710 mL/min; 95% CI 660–876; P< 0.002) and 15 min (750 mL/min; 95% CI 650–862; P< 0.005) were significantly lower than those measured at time 0 (850 mL/min; 95% CI 766–987). Both mean PBF velocity and volume measured at successive times did not differ significantly from basal values. The present study shows that cigarette smoking causes acute and transient reduction of PBF velocity and volume in normal subjects.     

Cruveilhier-Baumgarten syndrome: An efficient spontaneous portosystemic collateral preventing oesophageal varices bleeding

The protective role of large spontaeous portosystemic shunts in oesophageal varices bleeding due to portal hypertension in liver cirrhosis is still debated. A series of 20 consecutive patients with haemodynamically efficient collaterals involving the para-umbilical-epigastric venous route (evaluated by Echo-Doppler flowmetry) is reported. All patients presented absent or mild oesophageal varices at endoscopy. During a mean follow-up period of 23.5 months, no patient developed large varices or experienced variceal bleeding. Hepatic encephalopathy was present in 35% of patients. Haemodynamically efficient spontaneous portosystemic shunts may protect cirrhotic patients from the risk of oesophageal varices forming and bleeding. The diversion of large amounts of blood from portal to systemic circulation correlates with the higher trend of hepatic encephalopathy in these patients.     

Ventricular fibrillation induced by coagulating mode bipolar electrocautery during pacemaker implantation in Myotonic Dystrophy type 1 patient

The occurrence of ventricular fibrillation, induced by bipolar electrocautery during elective dual chamber pacemaker implantation, is reported in a patient affected by Myotonic Distrophy type 1 with normal left ventricular ejection fractionKey words: ventricular fibrillation, bipolar electrocautery, pacemaker implantation, Myotonic Dystrophy type 1     

The effect of atrial preference pacing on atrial fibrillation electrophysiological substrate in Myotonic Dystrophy type 1 population

P-wave dispersion is a non invasive indicator of intra-atrial conduction heterogeneity producing substrate for reentry, which is a pathophysiological mechanism of atrial fibrillation. The relationship between P-wave dispersion (PD) and atrial fibrillation (AF) in Myotonic dystrophy type 1 (DM1) patients is still unclear. Atrial Preference Pacing (APP) is an efficient algorithm to prevent paroxysmal AF in patients implanted with dual-chamber pacemaker. Aim of our study was to evaluate the possible correlation between atrial preference pacing algorithm, P-wave dispersion and AF burden in DM1 patients with normal cardiac function underwent permanent dual-chamber pacemaker implantation.We enrolled 50 patients with DM1 (age 50.3 ± 7.3; 11 F) underwent dual-chamber pacemaker implantation for various degree of atrioventricula block. The study population was randomized following 1 months stabilization period to APP algorithm features programmed OFF or ON. Patients were assessed every 3 months for the first year, and every 6 months thereafter up to 3 years. At each follow-up visit, we counted: the number of premature atrial beats, the number and the mean duration of AF episodes, AF burden and the percentage of atrial and ventricular pacing.APP ON Group showed lower number of AF episodes (117 ± 25 vs. 143 ± 37; p = 0.03) and AF burden (3059 ± 275 vs. 9010 ± 630 min; p < 0.04) than APP OFF Group. Atrial premature beats count (44903 ± 30689 vs. 13720 ± 7717 beats; p = 0.005) and Pwave dispersion values (42,1 ± 11 ms vs. 29,1 ± 4,2 ms, p = 0,003) were decreased in APP ON Group. We found a significant positive correlation between PD and AF burden (R = 0,8, p = 0.007).Atrial preference pacing algorithm, decreasing the number of atrial premature beats and the P-wave dispersion, reduces the onset and perpetuator factors of AF episodes and decreases the AF burden in DM1 patients underwent dual chamber pacemaker implantation for various degree of atrioventricular blocks and documented atrial fibrillation.Key words: atrial fibrillation, Myotonic Dystrophy, atrial preference pacing     

A Meta‐Analysis of Sex‐Related Differences in Outcomes After Primary Percutaneous Intervention for ST‐Segment Elevation Myocardial Infarction

Introduction

The increasing use of primary percutaneous coronary intervention (pPCI) has improved clinical outcome in ST‐segment elevation myocardial infarction (STEMI) patients, but the impact of sex on early and mid‐term outcomes remains to be defined.

Methods

Medline, Cochrane Library, Biomed Central, and Google Scholar were searched for articles describing differences in baseline, periprocedural, and midterm outcomes after pPCI, by sex. The primary end point was all‐cause mortality at early and mid‐term follow‐up. Secondary endpoints included in‐hospital bleeding and stroke.

Results

Sixteen studies were included. Women were older, had more frequent hypertension, diabetes mellitus, and hypercholesterolemia, as well as longer ischemia time and more shock at presentation. Men were more likely to have had a previous myocardial infarction. Female sex emerged as independently associated to early mortality (OR 1.1; 95%CI, 1.02–1.18) but not to mid‐term mortality (OR, 1.01; 95%CI, 0.99–1.03). The pooled analysis showed a significantly higher risk of in hospital stroke (OR, 1.69; 95%CI, 1.11–2.56) and major bleeding (OR, 2.04; 95%CI, 1.51–2.77) in women.

Conclusions

As compared to men, women undergoing pPCI have more bleedings and strokes, and a worse early, but not mid‐term mortality. These findings may allow a better risk stratification of pPCI patients.