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Abdominal Radiology -     

COVID-19 or not COVID-19? Compared characteristics of patients hospitalized for suspected COVID-19

European Journal of Clinical Microbiology & Infectious Diseases - During an epidemic period, we compared patients hospitalized for initial suspicion of COVID-19 but for whom an alternative...     

Low rates of anti-recipient isohemagglutinins in ABO incompatible hematopoietic stem cell transplants

IntroductionIsohemagglutinins occur naturally and form in an 'opposite' (antigen-negative) pattern to a patient’s ABO blood type. Patients undergoing minor and bidirectional ABO incompatible hematopoietic stem cell transplantation (HSCT) may demonstrate detectable antibodies against their native blood type. In this study, we sought to characterize the rates of such antibody formation and evaluate the clinical significance of our findings.Materials and MethodsAn internal database of HSCT patients at an academic medical center was queried for ABO incompatible transplant patients from 2009-2019. Serum typing results, clinical histories, and laboratory data were compiled and reviewed.ResultsA total of 182 minor and bidirectional ABO incompatible HSCT patients were identified. Anti-recipient isohemagglutinins were found in 9% (16/182) of the HSCT patients. The rate was higher in patients with minor incompatibility (12%: 15/127) versus bidirectional ABO incompatibility (2%: 1/55) (p = 0.04). No anti-recipient isohemagglutinins were identified in umbilical cord HSCT patients (0%: 0/7). Serologic agglutination reactions of recipient isohemagglutinins were overall mostly weak (13/16 weak + to 1+). There was a trend towards a higher rate of acute graft-versus-host-disease in patients with anti-recipient isohemagglutinins compared to those without (75% vs. 53%; p = 0.12), though not statistically significant. Rates of alloimmunization to minor red cell antigens were similar between the two groups. Few patients showed laboratory evidence of hemolysis at 12 months follow up.Discussion and conclusionsAnti-recipient isohemagglutinins occur at low rates in ABO incompatible HSCT and are significantly more common in minor ABO incompatible transplant compared to bidirectional transplants. Larger cohort studies are needed to better understand the relationship between anti-recipient isohemagglutinins and HSCT outcomes.     

Effect of a thrombin receptor (protease-activated receptor 1, PAR-1) gene polymorphism in chronic hepatitis C liver fibrosis

Background and Aim:  Tissue injury leads to activation of coagulation and generation of thrombin. Inhibition of thrombin receptor protease-activated receptor 1 (PAR-1) has been shown to reduce liver fibrosis in animals. This study aimed to evaluate the effect of PAR-1 gene polymorphism on rate of liver fibrosis (RF) in chronic hepatitis C.
Methods:  Polymorphisms studied: C > T transition 1426 bp upstream of translation start site (-1426C/T), 13 bp repeat of preceding -506 5'-CGGCCGCGGGAAG-3' sequence (-506I/D), and A > T transversion in intervening sequence (IVS) 14 bp upstream of exon-2 start site (IVS-14A/T). A total of 287 European and 90 Brazilian patients were studied.
Results:  1426C/T polymorphism: There was a trend to higher RF in patients with the TT genotype ( P  = 0.06) and an association between genotype CC and slow fibrosis ( P  = 0.03) in Europeans. In males, RF was significantly higher in those with the TT genotype compared to CT ( P  = 0.003) and CC ( P  = 0.007). There was a significant association between TT and fast fibrosis ( P  = 0.04). This was confirmed in an independent cohort of Brazilians where RF was higher in TT than in CC ( P  = 0.03). Analysis of -506I/D showed no difference in RF and distribution of slow/fast fibrosis among different genotypes in both populations. Analysis of IVS-14A/T showed no difference between genotypes.
Conclusion:  In conclusion, these findings suggest that PAR-1 receptor polymorphisms influence the progression of liver fibrosis.     

Recurrent costs of HIV/AIDS-related health services in Rwanda: implications for financing

Objective To estimate recurrent costs per patient and costs for a national HIV/AIDS treatment programme model in Rwanda. Methods A national HIV/AIDS treatment programme model was developed. Unit costs were estimated so as to reflect necessary service consumption of people living with HIV/AIDS (PLWHA). Two scenarios were calculated: (1) for patients/clients in the year 2006 and (2) for potential increases of patients/clients. A sensitivity analysis was conducted to test the robustness of results. Results Average yearly treatment costs were estimated to amount to 504 US$ per patient on antiretroviral therapy (ART) and to 91 US$ for non‐ART patients. Costs for the Rwandan HIV/AIDS treatment programme were estimated to lie between 20.9 and 27.1 million US$ depending on the scenario. ART required 9.6 to 11.1 million US$ or 41–46% of national programme costs. Treatment for opportunistic infections and other pathologies consumed 7.1 to 9.3 million US$ or 34% of total costs. Conclusion Health Care in general and ART more specifically is unaffordable for the vast majority of Rwandan PLWHA. Adequate resources need to be provided not only for ART but also to assure treatment of opportunistic infections and other pathologies. While risk‐pooling may play a limited role in the national response to HIV/AIDS, considering the general level of poverty of the Rwandan population, no appreciable alternative to continued donor funding exists for the foreseeable future.     

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

To meet challenges in terms of throughput and turnaround time, many diagnostic laboratories are shifting from Sanger sequencing to higher throughput next-generation sequencing (NGS) platforms. Bearing in mind that the performance and quality criteria expected from NGS in diagnostic or research settings are strikingly different, we have developed an Ion Torrent''s PGM-based routine diagnostic procedure for BRCA1/2 sequencing. The procedure was first tested on a training set of 62 control samples, and then blindly validated on 77 samples in parallel with our routine technique. The training set was composed of difficult cases, for example, insertions and/or deletions of various sizes, large-scale rearrangements and, obviously, mutations occurring in homopolymer regions. We also compared two bioinformatic solutions in this diagnostic context, an in-house academic pipeline and the commercially available NextGene software (Softgenetics). NextGene analysis provided higher sensitivity, as four previously undetected single-nucleotide variations were found. Regarding specificity, an average of 1.5 confirmatory Sanger sequencings per patient was needed for complete BRCA1/2 screening. Large-scale rearrangements were identified by two distinct analyses, that is, bioinformatics and fragment analysis with electrophoresis profile comparison. Turnaround time was enhanced, as a series of 30 patients were sequenced by one technician, making the results available for the clinician in 10 working days following blood sampling. BRCA1/2 genes are a good model, representative of the difficulties commonly encountered in diagnostic settings, which is why we believe our findings are of interest for the whole community, and the pipeline described can be adapted by any user of PGM for diagnostic purposes.