Frequency of DRB1-DQB1 two-locus haplotypes in tuberculosis: preliminary report

Analysis of correlation between tuberculosis (TB) and human leukocyte antigen (HLA) in populations from Asia and Latin America has shown conflicting results. The aim of this study was to evaluate the frequency of HLA-DRB1-DQB1 two-locus haplotypes of 61 TB patients and 125 healthy volunteers in the same ethnic group in Poland. DRB1 and DQB1 alleles were determined by PCR-SSP "low-resolution" and "high-resolution" methods. Our study showed that DRB1*1601 and DQB1*0502 alleles were more frequent, whereas DQB1*0201 was rarer in TB than in controls. DRB1*16-DQB1*05, DRB1*04-DQB1*03 and DRB1*1601-DQB1*0502 haplotype were more common, and DRB1*11-DQB1*03 less frequent in TB in comparison to controls. Positive linkage disequilibrium (LD) for DRB1*01-DQB1*05, DRB1*03-DQB1*02, DRB1*11-DQB1*03, DRB1*13-DQB1*06 and DRB1*15-DQB1*06 was found in controls. A trend towards the positive LD for DRB1*01-DQB1*05, DRB1*03-DQB1*02, DRB1*11-DQB1*03, DRB1*15-DQB1*06 and DRB1*16-DQB1*05 was shown in TB. The trend towards the positive LD for DRB1*16-DQB1*05 haplotype in TB patients was not observed in the control group. It seems likely that the presence of DRB1*1601, DQB1*0502 alleles and DRB1*1601-DQB1*0502, DRB1*04-DQB1*03, DRB1*14-DQB1*05 haplotypes may be related to a higher risk of developing TB, whereas low frequency of DQB1*0201 and DRB1*11-DQB1*03 haplotype may be linked to the resistance to TB.     

Coronary computed tomographic angiography for prediction of procedural and intermediate outcome of bypass grafting to left anterior descending artery occlusion with failed visualization on conventional angiography

Conventional coronary angiography (CCA) has considerable limitations regarding visualization of distal vessel segments in chronic total occlusion. We assessed the ability of coronary computed tomographic angiography (CCTA) to predict the success of coronary artery bypass grafting (CABG) to the chronically occluded left anterior descending coronary artery (LAD) incompletely visualized on CCA. Thirty symptomatic patients rejected for CABG on the basis of the CCA findings underwent preoperative CCTA before intended transmyocardial laser revascularization. The LAD was explored operatively in all patients, and CABG to the LAD was attempted if the distal vessel was suitable for anastomosis. The procedural outcome of CABG and the 6-month patency of the left internal mammary artery graft at follow-up CCTA were defined as the primary and secondary end point, respectively. The primary and secondary end points were achieved in 80% and 77% of patients, respectively. We found a significant correlation between the intraoperative and computed tomographic measurement of distal LAD diameter (R = 0.428, p = 0.037). On multivariate analysis, the maximum diameter of the distal LAD by CCTA (odds ratio 8.16, p = 0.043) was the only independent correlate of procedural success of CABG. A cutoff value of 1.5 mm for the mean distal LAD diameter predicted left internal mammary artery graft patency with 100% specificity and 83% sensitivity. Successful CABG resulted in significant improvements in angina class and left ventricular function in LAD segments at 6 months of follow-up. In conclusion, CCTA predicted both the procedural and the intermediate outcome of CABG to chronic LAD occlusion with failed visualization on CCA.     

Comprehensive investigation of genetic variation in the 8q24 region and multiple myeloma risk in the IMMEnSE consortium

Genome-wide association studies (GWAS) have shown that the 8q24 region harbours multiple independent cancer susceptibility loci, even though it is devoid of genes. Given that no GWAS data are currently available for multiple myeloma (MM), we tested the hypothesis that genetic variants in this region could play a role in MM risk. We genotyped 20 single nucleotide polymorphisms of 8q24 in 1188 MM cases and 2465 controls and found a statistically significant (P = 0·0022) association between rs2456449 and MM risk. These data provide further evidence that the genetic variability in the 8q24 region is associated with cancer risk, particularly haematological malignancies.     

Single coronary artery with anomalous origin from the pulmonary trunk: congenital lack of coronary arteries originating from the aortic bulb

A 23-year-old woman with an initial diagnosis of dilated cardiomyopathy for several years was referred to our center because of progressive congestive heart failure. Echocardiography showed a hypokinetic dilated left ventricle with globally impaired systolic function and an ejection fraction of 30%. We performed multislice cardiac computed tomography that revealed abnormal origin of the single coronary artery from the pulmonary trunk, lack of coronary arteries arising from the aorta, and abundant collateral flow from the bronchial artery to the anomalous coronary artery. This case report shows that cardiac computed tomography can be a valuable tool in the diagnosis of rare coronary anomalies.     

Retinal Vessel Functionality Is Linked With ARMS2 A69S and CFH Y402H Polymorphisms and Choroidal Status in AMD Patients

PurposeWe aimed to investigate the reactivity of retinal vessels to a flickering stimulus in patients with age-related macular degeneration (AMD) and healthy participants. We also assessed whether the parameters of retinal vessels are dependent on genetic predisposition.MethodsA total of 354 patients with AMD and 121 controls were recruited for the study. All participants underwent thorough ophthalmologic examination and static and dynamic retinal vessel analysis. AMD risk polymorphisms were genotyped in the CFH and ARMS2 genes.ResultsWe found no differences between the AMD group and controls in central retinal arteriolar equivalent (CRAE), central retinal venular equivalent (CRVE), arteriovenous ratio (AVR), dynamic analysis of arteries (DAAs), or dynamic analysis of veins (DAVs). Eyes with early AMD presented with significantly higher AVR values than eyes with late AMD. In the AMD group, DAA correlated positively with both choroidal thickness (Rs = 0.14, P = 0.00096) and choroidal volume (Rs = 0.23, P < 0.0001), and no such associations were observed in the controls. We found significantly lower DAA (1.47 ± 1.50) in TT homozygotes for the ARMS2 A69S polymorphism in comparison with GG homozygotes (2.38 ± 1.79) and patients with GG + GT genotypes (2.28 ± 1.84). We also observed less prominent DAV (3.24 ± 1.71) in patients with TC + CC genotypes in the CFH Y402H polymorphism compared with TT homozygotes (3.83 ± 1.68).ConclusionsOur findings suggest that retinal microcirculation appears to be associated with the genetic background, choroidal parameters, and clinical features of the patients with AMD.     

Influence of general anaesthesia on slow waves of intracranial pressure

Objective: Slow vasogenic intracranial pressure (ICP) waves are spontaneous ICP oscillations with a low frequency bandwidth of 0.3–4 cycles/min (B-waves). B-waves reflect dynamic oscillations in cerebral blood volume associated with autoregulatory cerebral vasodilation and vasoconstriction. This study quantifies the effects of general anaesthesia (GA) on the magnitude of B-waves compared to natural sleep and conscious state.

Materials and methods: The magnitude of B-waves was assessed in 4 groups of 30 patients each with clinical indications for ICP monitoring. Normal pressure hydrocephalus patients undergoing Cerebrospinal Fluid (CSF) infusion studies in the conscious state (GROUP A) and under GA (GROUP B), and hydrocephalus patients undergoing overnight ICP monitoring during physiological sleep (GROUP C) were compared to deeply sedated traumatic brain injury (TBI) patients with well-controlled ICP during the first night of Intensive Care Unit (ICU) stay (GROUP D).

Results: A total of 120 patients were included. During CSF infusion studies, the magnitude of slow waves was higher in conscious patients (GROUP A: 0.23+/?0.10 mm Hg) when compared to anaesthetised patients (GROUP B: 0.15+/?0.10 mm Hg; p = 0.011). Overnight magnitude of slow waves was higher in patients during natural sleep (GROUP C: 0.20+/?0.13 mm Hg) when compared to TBI patients under deep sedation (GROUP D: 0.11+/? 0.09 mm Hg; p = 0.002).

Conclusion: GA and deep sedation are associated with a reduced magnitude of B-waves. ICP monitoring carried out under GA is affected by iatrogenic suppression of slow vasogenic waves of ICP. Accounting for the effects of anaesthesia on vasogenic waves may prevent the misidentification of potential shunt-responders as non-responders.     

Nineteen-year single-center experience in 76 patients with penile cancer treated with high-dose-rate brachytherapy

PURPOSETo report the outcomes for 76 patients with penile cancer treated with high-dose-rate brachytherapy (HDR-BT) at a single institution.METHODSSeventy-six patients with penile cancer treated with HDR-BT in our department between October 1998 and September 2018 were analyzed. Seventy underwent interstitial HDR-BT (fractionation dose range of 3–3.5 Gy given twice a day with an interval of at least six hours between the fractions), and six underwent superficial treatment with mold applicators (fractionation dose range of 4–7 Gy given once or twice a week).RESULTSMedian follow-up was 76 months (7–204 months). In the whole group, 22/76 local failures (28.9%) were observed: 14/76 (18.4%) local recurrences and 8/76 (10.5%) cases of persistent disease. Median time to recurrence was 24 months (9–54 months). Inguinal lymph node metastases were observed in 18/76 cases (23.7%). Distant metastases occurred in 12/76 (15.8%) cases. Patients with local recurrence and persistent disease underwent salvage penectomies, except four who refused surgery and underwent a second course of interstitial HDR-BT. Five- and 10-year cause-specific survival were 85.0% and 77.8%, respectively. Local control at 5 and 10 years was 65.6%. Five- and 10-year penile preservation were 69.5% and 66.9%, respectively. There was no G3 or G4 acute toxicity. One urethral stenosis (1.3%) occurred in a patient with a T3 tumor and was treated successfully with dilatation.CONCLUSIONSHDR-BT provides good local control of penile cancer and is a good option for penis preservation therapy and in our experience achieves a penile preservation rate at 10 years of 66.9%.     

Reproduction in male swamp wallabies (Wallabia bicolor): puberty and the effects of season

This study describes pubertal changes in testes and epididymides and seasonal changes in the adult male reproductive organs and plasma androgen concentrations of the swamp wallaby (Wallabia bicolor). Pre-pubescent males had testes with solid seminiferous cords and spermatogenesis only to the stage of gonocytes. Their epididymides had empty lumina along their entire length. The testes of three males undergoing puberty had some lumen formation and mitotic activity. Their epididymides were similar in appearance to those of adult males but were entirely devoid of any cells within the lumen of the duct. Three other pubescent males showed full lumen formation in the testes and spermatogenesis up to the elongating spermatid stage. Their epididymides were similar in appearance to those of adult males but with no spermatozoa in the duct. However, cells of testicular origin were found in the lumen of the duct in all regions suggesting that testicular fluids and immature germ cells shed into the rete testes flow through the seminiferous tubules into the epididymis before the release of mature testicular spermatozoa. The weights of testes and epididymides of adult males showed no change throughout the year but prostate weight and plasma androgen concentrations varied significantly with season, with maximums in spring and summer and minimums in winter. The volume fraction of Leydig cells and seminiferous tubules was significantly lower in winter than in summer; but, despite this, maturing spermatozoa were found in the testes throughout the year. Females in the area conceived year-round, suggesting that seasonal changes in the male reproductive tract did not prevent at least some males from breeding throughout the year.