Distribution of HLA alleles in Portugal and Cabo Verde. Relationships with the slave trade route

HLA-A, -B , and -DR frequencies were analysed in populations from Portugal and the Madeira and Cabo Verde Archipelagos, aiming to characterize their genetic composition. Portuguese settlers colonized both Archipelagos in the 15th and 16th centuries. Madeira received many sub-Saharan slaves to work in the sugar plantations, and Cabo Verde served as a pivotal market in the Atlantic slave trade and was populated by individuals coming from the Senegambia region of the West African coast. The population of Madeira shows the highest genetic diversity and the presence of alleles and haplotypes usually linked to sub-Saharan populations, the haplotypes accounting for 3.5% of the total. Cabo Verde presents typical markers acknowledged to be of European or Ibero-Mediterranean origin, thus revealing the admixture of European settlers with Sub-Saharan slaves. Altogether the number of European haplotypes reaches 15% of the total. The Portuguese population shows a perceivable and significant heterogeneity both in allele and haplotype frequencies, unveiling a differential input of peoples from different origins. A PCA of the populations studied, plus other relevant ones, clearly shows gene heterogeneity in mainland Portugal as well as the differences and relationships between these populations and Madeira and Cabo Verde.     

Role of presynaptic purinoceptors and cyclic AMP on the noradrenaline release in cat cerebral arteries

Field electrical stimulation (ES), K+ (50 mM) or ionophore X-537A (0.01 mM) induced tritium release from cat cerebral arteries preincubated with [3H]noradrenaline (NA). Adenosine and AMP (0.5 mM) did not modify tritium release caused by ionophore X-537A, but these agents and ATP (0.5 mM) significantly reduced that elicited by ES and K+; this reduction was antagonized by 1-methyl-3-isobutylxanthine (MIX; 0.05 mM). Inosine (0.5 mM) and the agonist of purinergic A2-receptors, 5'N-ethyl-carboxamide adenosine (NECA; 0.5 mM) had no effect, but the agonist of purinergic A2-receptors L-N6-phenylisopropyl adenosine (L-PIA; 0.1 mM) diminished tritium efflux caused by ES and K+. The adenosine inhibition of ES-induced radioactivity release was not affected by indomethacin (0.05 mM). MIX (0.05 mM) increased tritium release evoked by ES and K+. Agents that increase intracellular cyclic (c)AMP levels, such as dibutyryl cAMP (0.5 mM), the phosphodiesterase inhibitor Ro 20-1724 (0.1 mM), and the activators of adenylate cyclase, forskolin (0.005 mM) and NaF (2 mM) reduced tritium secretion elicited by ES and K+. However, the intracellular increase of cyclic GMP (cGMP) caused by 8-Br-cGMP did not affect this secretion. Dipyridamole (0.05 mM) and the adenosine deaminase inhibitor erythro-9-2-hydroxy-3 nonyl adenosine (EHNA; 0.1 mM) also produced inhibition of tritium secretion elicited by ES and K+. Dipyridamole reduced both the uptake of [3H]NA and [3H]adenosine.(ABSTRACT TRUNCATED AT 250 WORDS)     

Basis for public health surveillance of Guillain-Barre syndrome in Sweden

We explored the basis for public health surveillance (PHS) ofGuillain-Barré syndrome (GBS) in Sweden. Time-seriesanalyses were performed by using autoregressive integrated movingaverage (ARIMA) models on GBS-related hospital-discharge data,namely monthly incidence rates in Sweden during the period 1978–1992and bimonthly numbers of new cases in Stockholm County duringthe period 1973–1992. In general, the predicted valuesfor 1993 fitted well with the observed figures. However, inline with prior analyses, the observed monthly incidence ratesfor April and May 1993 among the under 40 years age group inSweden were below the lower limit of the 95% confidence intervalsfor the corresponding predicted values. Furthermore, a seasonalpattern was detected. When the 1993 forecasts were used forretrospective examination of the data, significant variationsin GBS incidence rates were found for certain time periods.Some such signals corresponded to known high-risk periods in1978 and 1983. The results suggest that monthly or bimonthlyforecasts of GBS incidence can be obtained from ARIMA modelsapplied to registered GBS diagnostic data. PHS of GBS couldhave detected the zimeldine-induced GBS epidemic in 1983 aswell as the increases in GBS incidence with unknown cause in1978 and 1983.     

Multiple Pilomatricomas in Association with Trisomy 9

Abstract:   Multiple appearance of pilomatricoma is a rare phenomenon that has been associated with some diseases like Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. We present a case of association of multiple pilomatricoma and trisomy 9, which represents the third published in literature. As a result of the small prevalence of these two entities, we believe they could be related.     

Perforation of the Right Ventricle After Endomyocardial Biopsy Detected by Color Flow Doppler Echocardiography

Right ventricular perforation after endomyocardial biopsy of a heart transplant patient was established by color flow Doppler echocardiography. Systolic filling and diastolic drainage of the pericardium were seen. Healing of the perforation occurred spontaneously with no Doppler signs of perforation 8 days later.     

Evaluation of T-cell subsets in the lesion infiltrates of human cutaneous and mucocutaneous leishmaniasis

We have characterized the T-lymphocytes in the skin lesions of 10 patients with cutaneous leishmaniasis and in the nasal lesions of seven patients with mucosal leishmaniasis, with the immunoperoxidase and monoclonal antibody techniques. There was predominance of cells with helper phenotype (Leu 3A+ 3B) over suppressor phenotype (Leu 2a) in the lesions of both groups. The helper/suppressor (H/S) ratio in the skin lesions was 1.6 +/- 0.5 and in the nasal lesions of mucosal leishmaniasis was 1.7 +/- 0.8. The H/S ratios in the peripheral blood of patients with cutaneous leishmaniasis (2.1 +/- 0.8) and in patients with mucosal leishmaniasis (1.6 +/- 0.8) were comparable and similar to the ratios in the skin and nasal biopsies. The percentage of T-cells and macrophages expressing the Dr antigen in the cutaneous group (69.5 +/- 13.7) was not significantly different from the mucosal patients (90.3 +/- 5.7). We conclude that the immunopathology of the skin lesions in cutaneous leishmaniasis is similar to the nasal lesions of mucosal leishmaniasis.     

Comparison of Fixed Tilt and Tuned Defibrillation Waveforms: The PROMISE Study

Comparison of Defibrillation Waveforms . Background: All modern defibrillation systems use biphasic shock waveforms. Typically a fixed tilt waveform is used for implantable defibrillators (ICDs), but a tuned waveform with duration based on shock impedance may be superior based on theoretical calculations. Objective: The objective of this study was to compare defibrillation efficacy of fixed tilt and tuned waveforms. Methods: PROMISE was designed as a prospective, within‐patient, randomized study of defibrillation thresholds (DFTs) comparing a tuned (assuming a 3.5 milliseconds membrane time constant) versus a 50/50% tilt waveform. All patients had a left pectoral implant (active can) and testing was performed with a single coil shocking configuration (“SVC coil OFF”). DFTs were measured in random order with a binary search method in 52 patients, using the high‐voltage lead impedance to select the pulse widths for both waveforms. Results: At the DFT, the tuned waveform had similar delivered energy (10.5 ± 6.3 vs 9.5 ± 5.5 J, P = 0.47), stored energy (13.6 ± 7.9 vs 11.3 ± 6.3 J, P = 0.06), peak current (7.5 ± 3.0 vs 6.8 ± 2.2 A, P = 0.09), and delivered voltage (451.0 ± 134.5 vs 411.5 ± 120.7 V, P = 0.05) compared with the 50/50% tilt waveform. Conclusion: The DFTs for 3.5‐millisecond time constant based tuned and 50/50% tilt waveforms are similar using a single coil, left pectoral active can. (J Cardiovasc Electrophysiol, Vol. 24, pp. 323‐327, March 2013)