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.     

Premature Pulmonary Valve Opening in Cardiac Amyloidosis

Premature pulmonary valve opening has been described in various conditions associated with increased right ventricular end-diastolic pressure. Although cardiac amyloidosis belongs to this category of diseases, abnormalities of pulmonary valve motion have not been reported in this setting. This article describes premature pulmonary valve opening in a patient with cardiac amyloidosis.     

Assessment of Long-Term Stability of Chronic Ventricular Pacing Thresholds in Steroid-Eluting Electrodes

Sixteen patients with Medtronic 4003 steroid-eluting electrodes implanted in the ventricular position were followed over 5 years. In each patient a special type of Medtronic 2443 pacemaker was implanted to allow programming of output at 1.35 V. Chronic threshold values in these patients measured at an output of 1,35 V were stable over the first 18 months of follow-up. Mean values were: 0.06 ± 0.03 msec at 6 months and 0.08 ± 0.02 msec at 18 months; these did not differ from each other significantly. However, during the period from 18 to 36 months postimplantation, a significant increase in mean pacing threshold was observed: 0.08 ± 0.02 msec at 18 months postimplantation versus 0.14 ± 0.05 msec at 36 months (P < 0.01), After 36 months, the chronic pacing threshold remained stable until the end of the 5-year follow-up period. Further long-term study of chronic threshold behavior of steroid-eluting electrodes measured at low amplitudes is warranted.     

Dorsal onlay augmentation urethroplasty with small intestinal submucosa: Modified Barbagli technique for strictures of the bulbar urethra

AIM: To present the results from one clinic's experience of using small intestinal submucosa (SIS) in augmentation urethroplasty for management of strictures of the bulbar urethra. METHODS: Urethral surgery was performed in nine men with strictures 4-6 cm. All of the patients were evaluated by history, physical examination, retrograde urethrogram, and uroflowmetry. Four layers of SIS were soaked in saline or Ringer's solution for 15 minutes at 37 degrees C, and the inner surface of the patch was gently fenestrated with a thin scalpel. The patch was spread-fixed onto the tunica albuginea. The mucosa was sutured to the submucosal graft first at 2-3 mm inwards from the SIS margins, then the spongiosum tissue was attached to the margins with interrupted absorbable sutures. RESULTS: Of the nine patients who underwent augmentation urethroplasty using SIS, only one had re-stricture at 6 months due to urethral infection. At 18 months after the surgery the uroflowmetry of the other eight patients was 20-21 mL/s. In terms of complications, six patients reported having post-micturition dribbling, and seven patients reported lack of morning erections for 35-69 days after surgery. CONCLUSIONS: Using SIS is a safe procedure; however, long-term follow-up is needed to substantiate the good short-term results.     

Evaluation of Asynchronous Left Ventricular Relaxation by Doppler Echocardiography During Ventricular Pacing with AV Synchrony (VDD): Comparison with Atrial Pacing (AAI)

The effect of right ventricular pacing on left ventricular relaxation was studied in 13 patients (age 62 ± 3 years), with the atrial sensing ventricular pacing mode (VDD). A control group of similar age (64 ± 4 years) consisted of 11 patients with atrial pacing (AAI). The timing of events was determined in both groups at similar R-R intervals (921 ± 77 ms vs 967 ± 37 ms). The loading conditions as estimated by peak systolic wall stress (afterload) and end-diastolic left ventricular dimensions (preload) were approximately the same in both groups. The ratio of late to early filling velocities were similar in both groups. Dominant changes were: increased preejection period (142 ± 13 ms vs 95 ± 15 ms); and higher velocities of isovolumic relaxation flow (60 ± 34 cm/s vs 25 ± 4 cm/s) in patients with ventricular pacing. The isovolumic relaxation time was longer in patients with VDD pacing (127 ± 14 ms vs 108 ± 12 ms). Anterior systolic interventricular septal motion (paradoxal motion) was recorded in nine patients with VDD pacing and in none of the patients with AAI pacing. Isovolumic relaxation flow was detected during atrial pacing in five (45%) patients and in 13 (100%) patients during atrial sensing ventricular pacing, indicating asynchronous left ventricular relaxation. This data shows that VDD pacing compared to atrial pacing resulted in an altered activation pattern of the left ventricle, associated with delayed onset, asynchronous contraction with interventricular septal motion abnormalities and prolonged asynchronous left ventricular relaxation with abnormal motion manifested by the presence of isovolumic relaxation flow.