Desmoglein autoantibodies and disease severity in pemphigus patients – correlations and discrepancies

Aim: To assess the correlation between the levels of anti-desmoglein-1 and anti-desmoglein-3 autoantibodies and disease severity in pemphigus patients. Materials and methods: Thirty-eight pemphigus patients aged 30 to 87 years were included in the study. All patients underwent clinical examination, pemphigus disease zone index assessment, histopathological and direct immunofluorescence tests, and assessment of desmoglein-1 and desmoglein-3 autoantibodies by enzyme-linked immunosorbent assay. Results: Twenty-eight out of 38 serum samples exceeded the cut-off value of anti-desmoglein-1, and 26 of 38 sera had positive anti-desmoglein-3 antibodies. One serum from 38 controls had positive anti-desmoglein-1 antibodies. Seven (18.4%) patients experienced a mild course of the disease, 16 (42.1%) patients experienced moderate, and 15 (39.5%) patients suffered from severe pemphigus. A significant correlation between disease severity and both autoantibody levels was observed, but there were exceptions. Conclusions: There is a significant correlation between anti-desmoglein antibodies and disease severity in the entire group, but there are also discrepancies in some cases

In search of dermatophytes – frequency and etiology of fungal infections in patients with and without diabetes mellitus

Introduction: Onychomycosis is a frequent nail disorder, accounting for up to 50% of all nail problems. Treatment of onychomycosis is expensive and requires a long time of antifungal medications. Consequently, a proper and faster diagnosis is necessary. Especially for those patients with diabetes mellitus, where onychomycosis is among the most significant predictors of foot ulcer and possible severe complications.Aim: To compare the sensitivity, specificity, and turnaround time between direct microscopy, culture, histology, and real-time PCR. In addition, to compare the frequency and etiology of onychomycosis in patients with and without DM.Materials and methods: This study included 102 patients, divided into two groups. One group consisted of patients with diabetes mellitus and the other – without diabetes. Nail samples were collected and examined by direct KOH microscopic examination, culture, histology, and real-time PCR.Results: From the 102 patients with clinical onychomycosis, positive KOH was found in 38 (37.3%). Culture – 82 out of 102 samples (80.4%) were positive for dermatophytes, yeasts, and/or NDM. Positive histology samples were 32 (41.6%). The PCR was positive in 57 (55.9%) out of the 102. We discovered that there is no significant statistical difference in the etiology of the fungal infections between the two groups.Conclusions: All mycological investigations have their place in the diagnosis of onychomycosis. Direct microscopy, culture, and histology are useful methods for clinicians to diagnose and follow up the post-treatment period. The advantages of RT-PCR include obtaining results faster and accurately identifying fungi, thus becoming more valued in the diagnosis of OM

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

Multi-criteria decision analysis for assessment and appraisal of orphan drugs

Background: Limited resources and expanding expectations push all countries and types of health systems to adopt new approaches in priority setting and resources allocation. Despite best efforts, it is difficult to reconcile all competing interests and trade-offs are inevitable. This is why multi-criteria decision analysis (MCDA) has played a major role in recent uptake of value-based reimbursement. MCDA framework enables exploration of stakeholders’ preferences, as well as explicit organization of broad range of criteria on which real-world decisions are made.Assessment and appraisal of orphan drugs tend to be one of the most complicated health technology assessment (HTA) tasks. Access to market approved orphan therapies remains an issue. Early constructive dialogue among rare disease stakeholders and elaboration of orphan drug-tailored decision support tools could set the scene for ongoing accumulation of evidence, as well as for proper reimbursement decision-making.Objective: The objective of this study was to create a MCDA value measurement model to assess and appraise orphan drugs. This was achieved by exploring the preferences on decision criteria’s weights and performance scores through a stakeholder-representative survey and a focus group discussion that were both organized in Bulgaria.Results/Conclusions: Decision criteria that describe the health technology’s characteristics were unanimously agreed as the most important group of reimbursement considerations. This outcome, combined with the high individual weight of disease severity and disease burden criteria underlined some of the fundamental principles of healthcare – equity and fairness. Our study proved that strength of evidence may be a key criterion in orphan drug assessment and appraisal. Evidence is not only used to shape reimbursement decision-making, but also to lend legitimacy to policies pursued. The need for real-world data on orphan drugs was largely stressed.Improved knowledge on MCDA feasibility and integration to HTA is of paramount importance, as progress in medicine and innovative health technologies should correspond to patient, healthcare system and societal values

Health Economic Data in Reimbursement of New Medical Technologies: Importance of the Socio-Economic Burden as a Decision-Making Criterion

Background: Assessment and appraisal of new medical technologies require a balance between the interests of different stakeholders. Final decision should take into account the societal value of new therapies.Objective: This perspective paper discusses the socio-economic burden of disease as a specific reimbursement decision-making criterion and calls for the inclusion of it as a counterbalance to the cost-effectiveness and budget impact criteria.Results/Conclusions: Socio-economic burden is a decision-making criterion, accounting for diseases, for which the assessed medical technology is indicated. This indicator is usually researched through cost-of-illness studies that systematically quantify the socio-economic burden of diseases on the individual and on the society. This is a very important consideration as it illustrates direct budgetary consequences of diseases in the health system and indirect costs associated with patient or carer productivity losses. By measuring and comparing the socio-economic burden of different diseases to society, health authorities and payers could benefit in optimizing priority setting and resource allocation.New medical technologies, especially innovative therapies, present an excellent case study for the inclusion of socio-economic burden in reimbursement decision-making. Assessment and appraisal have been greatly concentrated so far on cost-effectiveness and budget impact, marginalizing all other considerations. In this context, data on disease burden and inclusion of explicit criterion of socio-economic burden in reimbursement decision-making may be highly beneficial. Realizing the magnitude of the lost socio-economic contribution resulting from diseases in question could be a reasonable way for policy makers to accept a higher valuation of innovative therapies

Carbapenemase Production of Clinical Isolates Acinetobacter baumannii and Pseudomonas aeruginosa from a Bulgarian University Hospital

Background: Production of Bla OXA-23, OXA-24, OXA-58 and hyperexpression of OXA-51 due to ISAba1 insertion sequence are the leading causes of carbapenem resistance in Acinetobacter baumannii. The loss of OprD transmembrane protein and the overexpression of some effl ux pumps are considered to be the main factors for carbapenem resistance in Pseudomonas aeruginosa whereas metallo-enzymes’ production has a secondary role. Aim: Тo examine the carbapenem resistance due to carbapenemase production among clinically signifi cant Gram-negative non-fermenters from St George University hospital, Plovdiv: A. baumannii and P. aeruginosa. Materials and methods: Forty three A. baumannii and 43 P. aeruginosa isolates, resistant or with intermediate resistance to imipenem and/or meropenem were included in the study. They were collected from patients admitted in 14 various hospital wards between 2010 and 2014. Both phenotypic and genetic methods were used for identifi cation and antimicrobial susceptibility testing. Results: All A. baumannii demonstrated carbapenemase production determined by a modifi ed Hodge test whereas P. aeruginosa isolates did not show this phenomenon. OXA-23 genes were determined in 97.7% (42 out of 43) of A. baumannii isolates indistinguishable from the sequence of the classical ARI-1 gene. OXA-24, OXA-58 and overexpression of OXA-51 were not registered in any of the isolates. All P. aeruginosa were negative for blaVIM and blaIMP genes. Conclusion: The leading cause of carbapenem resistance in A. baumannii isolates from our hospital is the carbapenemase production due to the expression of OXA- 23 gene, whereas in P. aeruginosa - the loss of transmembrane OprD protein and the effl ux pumps’ hyperexpression are suspected to be the main mechanisms