Switch arterial paliativo como primer tiempo hacia Fontan en pacientes con fisiología univentricular y estenosis subaórtica

Introduction and objectives

There are several techniques for the palliative treatment of patients with single-ventricle physiology, ventriculoarterial discordance and subaortic stenosis. The Fontan procedure relies on optimal initial palliation to avoid the development of subaortic stenosis (as well as ventricular hypertrophy and diastolic dysfunction).

Methods

We present seven patients with single-ventricle physiology, transposition of the great arteries and subaortic stenosis, with low systemic output and high pulmonary flow, aged 21 to 383 days (median, 75) and weighing between 3.4 and 9.6 kg (median, 4.2). All were treated with a palliative arterial switch, thus «switching» their subaortic stenosis to subpulmonary stenosis. Six patients also underwent aortic arch surgery, 4 an atrial septectomy, and 1 a subaortic membrane resection.

Results

One patient died after surgery, another developed recoarctation, which was treated with an angioplasty, 3 patients reached the Glenn stage and 2 the Fontan stage. All had good ventricular function.

Conclusions

A palliative switch is an effective initial treatment for single-ventricle physiology with transposition of the great arteries and subaortic stenosis. This complex initial technique produces good results and allows the patient to progress to the Glenn or Fontan stage.Full English text available from:www.revespcardiol.org/en     

Effects of Citrulline Supplementation on Different Aerobic Exercise Performance Outcomes: A Systematic Review and Meta-Analysis

Supplementation with Citrulline (Cit) has been shown to have a positive impact on aerobic exercise performance and related outcomes such as lactate, oxygen uptake (VO₂) kinetics, and the rate of perceived exertion (RPE), probably due to its relationship to endogenous nitric oxide production. However, current research has shown this to be controversial. The main objective of this systematic review and meta-analysis was to analyze and assess the effects of Cit supplementation on aerobic exercise performance and related outcomes, as well as to show the most suitable doses and timing of ingestion. A structured literature search was carried out by the PRISMA^® (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) and PICOS guidelines in the following databases: Pubmed/Medline, Scopus, and Web of Science (WOS). A total of 10 studies were included in the analysis, all of which exclusively compared the effects of Cit supplementation with those of a placebo group on aerobic performance, lactate, VO₂, and the RPE. Those articles that used other supplements and measured other outcomes were excluded. The meta-analysis was carried out using Hedges’ g random effects model and pooled standardized mean differences (SMD). The results showed no positive effects of Cit supplementation on aerobic performance (pooled SMD = 0.15; 95% CI (−0.02 to 0.32); I², 0%; p = 0.08), the RPE (pooled SMD = −0.03; 95% CI (−0.43 to 0.38); I², 49%; p = 0.9), VO₂ kinetics (pooled SMD = 0.01; 95% CI (−0.16 to 0.17); I², 0%; p = 0.94), and lactate (pooled SMD = 0.25; 95% CI (−0.10 to 0.59); I², 0%; p = 0.16). In conclusion, Cit supplementation did not prove to have any benefits for aerobic exercise performance and related outcomes. Where chronic protocols seemed to show a positive tendency, more studies in the field are needed to better understand the effects.     

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q

Progressive myoclonus epilepsy of the Lafora type (Lafora'sdisease) is an autosomal recessive disease characterized byepilepsy, myoclonus, dementia, and periodic acid-Schiff-positiveintracellular inclusion bodies. The inclusion deposits consistof branched polysaccharides (polyglucosans) but the responsiblebiochemical defect has not been identified. Onset is duringlate childhood or adolescence and the disease leads to a fataloutcome within a decade of first symptoms. We studied nine familiesin which Lafora’s disease had been proven by biopsy inat least one member. In order to locate the responsible gene,we screened the human genome with microsatellite markers spacedan average of 13 cM. We used linkage analysis in all nine familiesand homozygosity mapping in four consanguineous families todefine the Lafora‘s disease gene region. Two point linkageanalysis resulted in a total peak lod score of 10.54 for markerD6S311. Six additional chromosome 6q23–25 microsatellitesyielded lod scores ranging from 5.92 to 9.60 at     

Expressed emotion: past, present, future]

Expressed Emotion (EE) proved to be the best single predictor of relapse in schizophrenia in 1972. Since then, studies on EE were oriented in three directions: Replication of the original study in different countries, improvement of the methodology and clinical applications. The analysis of different key studies shows that EE is a powerful predictor factor, although it is influenced by other variables such as culture.     

MicroRNA9 regulates neural stem cell differentiation by controlling Hes1 expression dynamics in the developing brain

Earlier studies show that Hes1 expression is oscillatory in neural stem cells but sustained and high in the roof plate and the floor plate, and that such different dynamics of Hes1 expression (oscillatory versus sustained) regulate different proliferation and differentiation characteristics of these cells (active in neural stem cells but rather dormant in roof/floor plate cells). The mechanism of how different dynamics of Hes1 expression is controlled remains to be determined. Here, we found that the seed sequence of microRNA‐9 (miR‐9) is complementary to the 3′‐UTR sequence of Hes1 mRNA. MiR‐9 is highly expressed in the ventricular zone of the developing brain, which contains neural stem cells, but it is not expressed in the roof plate or the floor plate. Over‐expression of miR‐9 negatively regulates the Hes1 protein expression by interacting with the 3′‐UTR of Hes1 mRNA, thereby inducing cell cycle exit and neuronal differentiation. Conversely, knockdown of miR‐9 inhibits neuronal differentiation. Furthermore, knockdown of miR‐9 inhibits the oscillatory expression of Hes1 mRNA in neural stem cells. These results indicate that miR‐9 regulates the proliferation and differentiation of neural stem cells by controlling the dynamics of Hes1 expression in the developing brain.     

Heart rate variability and pre-competitive anxiety in BMX discipline

Altered neural mechanisms implying autonomic functioning have been described related to anxiety. Pre-competitive stress may be considered as an anxiety-state associated with disorders (i.e. somatic and cognitive alterations, and self-confidence worsening) that severely impair sport performance, conditioning short-lasting strength-related disciplines like BMX. From the psychological perspective, coaches use questionnaires like CSAI-2R to identify these alterations. However, with the emergence of psycho-physiological and non-linear approaches, recent studies suggest that HRV analysis provides a non-invasive tool to assess them. Hence, our purpose was to analyze how BMX competition affects subjective perception of anxiety, and if this emotional alteration is reflected in HR dynamics, analyzed both linear and nonlinearly, exploring the evolution of this relationship in a 2-day competition. Eleven male athletes from the BMX Spanish National Team were assessed from baseline HRV the morning of a training session (rT) and on two successive days of competition (rC1 and rC2), repeating HRV recording with CSAI-2R 20 min prior to training (aT) and competition (pre-competitive: aC1 and aC2). Repeated measures MANOVA showed significant vagal slow-down responses in aC1 and aC2 comparing not only with aT, but also comparing with rT, rC1 and rC2, coinciding with significant greater scores for the somatic and cognitive anxiety (SA and CA) in aC1 and aC2 versus aT. Pearson analysis showed a large and positive correlation between α1 and SA in C1, and close to it between SampEn and CA in aC2; both were confirmed by Bland–Altman chart analysis. Our results confirm that HRV analysis provide a complementary tool to assess competitive pressure.     

Echocardiographic assessment of pulmonary arterial pressure in the follow-up of patients with pulmonary embolism

Background

Echocardiography remains a clinically useful screening test for chronic thromboembolic pulmonary hypertension (CTEPH) in patients with a history of pulmonary embolism (PE). To devise an effective screening strategy, the definition of a high-risk group is necessary.

Methods

We examined a total of 744 patients with acute symptomatic pulmonary embolism (PE) who were enrolled in a Spanish multicenter study. Patients were monitored every 6 months during the first two years, and then once a year thereafter. Transthoracic echocardiography was used to screen patients with a clinical suspicion of CTEPH during follow-up. Pulmonary arterial hypertension was defined as an estimated pulmonary artery systolic pressure (PAP) > 50 mm Hg. The index thromboembolic episode was considered severe if: (a) the patient was immobilized for medical reasons; or (b) systolic blood pressure was less than 90 mm Hg; or (c) troponin T values were above the reference range.

Results

The incidence of PAP > 50 mm Hg at 36 months was 8.3% (95% confidence interval = 4.6%-14.5%). Statistical analysis showed a highly significant association between a severe index thromboembolic episode and the subsequent detection of PAP > 50 mm Hg on echocardiography, with high positive likelihood ratio (2.40) and negative predictive value (> 0.97).

Conclusions

Patients with a severe index thromboembolic episode would constitute a high-risk group for the development of CTEPH. This group of patients should be subjected to a strict follow-up protocol.