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.     

Aquaporin-7 and glycerol permeability as novel obesity drug-target pathways

Advances in determining the mechanisms that underlie the control of energy balance in mammals have recently been provided by the discovery and characterization of aquaporin-7 (AQP7), a water-glycerol transporter that is present in the plasma membrane of fat-storing cells (adipocytes). Recent studies have shown that the absence of AQP7 expression in fat cells increases glycerol kinase activity, boosting triacylglycerol synthesis and ultimately leading to obesity. Thus, AQP7 operates as a glycerol channel in vivo, whereby adipocyte glycerol permeability has a key role in the regulation of fat accumulation.     

Increased Serum Amyloid A Concentrations in Morbid Obesity Decrease after Gastric Bypass

Background: Obesity is considered a state of low-grade chronic inflammation, which may favor the development of cardiovascular diseases. Serum amyloid A (SAA) is an acute phase protein synthesized in response to infection, inflammation, injury, and stress. The aim of the present study was to compare the circulating concentrations of SAA and the mRNA expression in omental adipose tissue between lean and obese individuals and to analyze the effect of weight loss after gastric bypass. Methods: 16 lean volunteers (BMI 20.5 ± 0.6 kg/m²) and 24 obese patients (BMI 47.0 ± 1.2 kg/m²) were included in the study. Serum concentrations of SAA were measured by ELISA. In addition, the concentrations of SAA in 18 morbidly obese patients (7 male/11 female; BMI 44.6 ± 1.9 kg/m²) were measured before and after weight loss following Roux-en-Y gastric bypass (RYGBP). SAA expression in omental adipose tissue was quantified by RT-PCR in biopsies from obese patients undergoing RYGBP and from age-matched lean individuals subjected to Nissen fundoplication. Results: Obese patients exhibited significantly increased circulating SAA concentrations (6.6 ± 0.5 vs 39.3 ± 9.1 μg/ml; P<0.01) compared to lean subjects. A significant positive correlation was found between logSAA and body fat (r=0.631, P<0.0001). Obese patients showed significantly increased (P<0.05) mRNA expression of SAA in omental adipose tissue compared to lean subjects. Weight loss significantly decreased SAA concentrations after RYGBP (final BMI 28.5 ± 0.9 kg/m², P<0.0001 vs initial) from 47.5 ± 14.5 to 15.7 ± 2.9 μg/ml (P<0.05). Conclusion: It can be concluded that serum SAA and mRNA expression of SAA in omental adipose tissue are increased in obese patients contributing to the obesity-associated cardiovascular disease risk. Moreover, weight loss reduces SAA concentrations, which may contribute to the beneficial effects accompanying weight reduction.     

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.     

Development and validation of a clinical prediction rule for severe community-acquired pneumonia

RATIONALE: Objective strategies are needed to improve the diagnosis of severe community-acquired pneumonia in the emergency department setting. OBJECTIVES: To develop and validate a clinical prediction rule for identifying patients with severe community-acquired pneumonia, comparing it with other prognostic rules. METHODS: Data collected from clinical information and physical examination of 1,057 patients visiting the emergency department of a hospital were used to derive a clinical prediction rule, which was then validated in two different populations: 719 patients from the same center and 1,121 patients from four other hospitals. MEASUREMENTS AND MAIN RESULTS: In the multivariate analyses, eight independent predictive factors were correlated with severe community-acquired pneumonia: arterial pH < 7.30, systolic blood pressure < 90 mm Hg, respiratory rate > 30 breaths/min, altered mental status, blood urea nitrogen > 30 mg/dl, oxygen arterial pressure < 54 mm Hg or ratio of arterial oxygen tension to fraction of inspired oxygen < 250 mm Hg, age > or = 80 yr, and multilobar/bilateral lung affectation. From the beta parameter obtained in the multivariate model, a score was assigned to each predictive variable. The model shows an area under the curve of 0.92. This rule proved better at identifying patients evolving toward severe community-acquired pneumonia than either the modified American Thoracic Society rule, the British Thoracic Society's CURB-65, or the Pneumonia Severity Index. CONCLUSIONS: A simple score using clinical data available at the time of the emergency department visit provides a practical diagnostic decision aid, and predicts the development of severe community-acquired pneumonia.