Fast approach for clarification of chromosomal aberrations by using LM-PCR and FT-CGH in leukaemic sample

Chromosomal abnormalities, like deletions, amplifications, inversions or translocations, are recurrent features in haematological malignancies. However, the precise molecular breakpoints are frequently not determined. Here we describe a rapid analysis of genetic imbalances combining fine tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR). We clarified an inv(14)(q11q32) in a case of T cell acute lymphoblastic leukaemia with a breakpoint in the TRA/D in 68% of cells detected by fluorescence in situ hybridization. FT-CGH showed several mono- and biallelic losses within TRA/D. LM-PCR disclosed a TRA/D rearrangement on one allele. The other allele revealed an inv(14)(q11q32), joining TRDD2 at 21,977,000 of 14q11 together with the IGH locus at 105,948,000 and 3'-sequence of TRAC at 22,092,000 joined together with IGHV4-61 at 106,166,000. This sensitive approach can unravel complex chromosomal abnormalities in patient samples with a limited amount of aberrant cells and may lead to better diagnostic and therapeutic options

Cold adapted and closely related mucoraceae species colonise dry-aged beef (DAB)

The dry ageing is a historically relevant method of meat preservation, now used as a way to produce the dry-aged beef (DAB) known for its pronounced flavour. Partially responsible for the taste of the DAB may be various microorganisms that grow on the surface of the meat. Historically, the fungal species colonising the DAB were described as members of the genera Thamnidium and Mucor. In this study we used both culture based approach as well as ITS2 rDNA metabarcoding analysis to investigate the fungal community of the DAB, with special emphasis on the mucoralean taxa. Isolated fungi were members of 6 different species from the family Mucoraceae, belonging to the genera Mucor and Helicostylum. Metabarcoding data provided supplementary information regarding the presence of other fungi including those from the Thamnidium genus. In both approaches used in this study isolates closely related to the Mucor flavus strain CBS 992.68 dominated. © 2023 The Author

Occurrence and extraction of implantable cardioverter-defibrillator leads with conductor externalization

   Background: The increasing number of patients with implantable cardioverter-defibrillators (ICD) contributes to the rising number of patients qualifying for a transvenous lead extraction (TLE) due to infection, vascular or lead failure related indications. The purpose of this study was to perform a retrospective analysis of the occurrence of conductor externalization in TLE patients and to assess the success rate in the extraction of these leads. Methods: TLE procedure was performed between 2012 and 2014 of 428 electrodes in 259 patients. Out of these, 143 (33.4%) leads in 138 (52.9%) patients were ICD leads. The indications for the TLE in ICD patients were: infection in 37 patients, lead failure in 84 patients, and others in 17 patients. Conductor externalization was observed in 8 ICD leads (5.6%) in 8 (5.8%) patients. The mean dwell­ing time for externalized leads was 87.9 (55 to 132) months compared to 60.1 (3 to 246) months of the remaining 135 ICD leads (p = 0.0329). All externalized leads were successfully and completely extracted using device traction, mechanical telescopic sheaths and/or autorotational cutting sheaths. No complica­tions of lead extraction procedures were observed in 8 patients with externalization. Results: Patients with lead externalization were often in a better New York Heart Association func­tional class (I or II) compared to those in the rest of the study group (p = 0.0212). Conclusions: Conductor externalization is a rare finding in patients undergoing TLE. This occurs with different manufacturers and lead types. In this complication transvenous lead extraction with the mechanical extraction tools can be safely performed.

Impact of CoreValve size selection based on multi-slice computed tomography on paravalvular leak after transcatheter aortic valve implantation

Background: Paravalvular leak (PVL) has significant impact on long-term outcomes in patients after transcatheter aortic valve implantation (TAVI). This study sought to determine whether multi-slice computed tomography (MSCT)-guided valve selection reduces PVL after CoreValve implantation. Methods: The analysis encompassed 69 patients implanted with CoreValve and were divided into two groups. In Group I (30 patients), valve selection was based on standard procedures, in Group II (39 patients), on MSCT measurements. Paravalvular leak was assessed with angiography and echocardiography. Results: Multi-slice computed tomography results influenced a change of decision as to the size of the implanted valve in 12 (30.9%) patients in Group II and would have caused the decision to change in 9 (37.5%) patients in Group I. The degree of oversizing in Group I and II was 12.8% ± ± 7.6% vs. 18.6% ± 5.1% (p = 0.0006), respectively. The oversizing among the patients with leak degree of 0–1 and ≥ 2 was 18.1% ± 6.0% and 12.8% ± 7.4% (p = 0.0036). Angiographic assessment indicated post-procedural PVL ≥ 2 in 50% of patients in Group I and 20.5% in Group II (p = 0.01), while echocardiographic assessment indicated the same in 73.3% of patients in Group I and 45.6% in Group II (p = 0.0136). The composite endpoint occurred in 26.6% (8/30) patients in Group I vs. 5.1% (2/39) patients in Group II (p = 0.0118). Conclusions: Selecting the CoreValve device based on MSCT resulted in smaller rates of PVL and less frequent composite endpoint. In 1/3 of patients MSCT led to a change of the valve size. The degree of oversizing had a significant impact on PVL

Association between Genetic Variants on Chromosome 15q25 Locus and Several Nicotine Dependence Traits in Polish Population: A Case-Control Study

Tobacco smoking continues to be a leading cause of disease and mortality. Recent research has confirmed the important role of nicotinic acetylcholine receptor (nAChR) gene cluster on chromosome 15q 24-25 in nicotine dependence and smoking. In this study we tested the association of smoking initiation, age at onset of daily smoking, and heaviness of smoking with five single nucleotide polymorphisms (SNPs) within the CHRNA5-CHRNA3-CHRNB4 cluster. The group of 389 adult subjects of European ancestry from the north of Poland, including 212 ever (140 current and 72 former) and 177 never smokers with mean age 49.26, was genotyped for rs16969868, rs1051730, rs588765, rs6495308, and rs578776 polymorphisms. Distributions of genotypes for rs16969868 and rs1051730 were identical so they were analyzed together. Further analysis revealed the association between rs16969868-1051730 (OR = 2.66; 95% CI: 1.30–5.42) and number of cigarettes smoked per day (CPD) with heaviness of nicotine addiction measured by the Fagerström Test for Nicotine Dependence (FTND) (OR = 2.60; 95% CI: 1.24–5.43). No association between these polymorphisms and other phenotypes was found. Similarly, the association between rs588765, rs6495308, rs578776, and analyzed phenotypes was not confirmed. This study provides strong evidence for the role of the CHRNA5-CHRNA3-CHRNB4 cluster in heaviness of nicotine addiction