HLA-DQB1*05:03 is associated with an increased risk of COVID-19 progression in the Bulgarian population.

The SARS-CoV-2 outbreak represents a global health problem. The different infection rates are heavily influenced by host genetic factors, such as variability in the HLA region. The aim of our study was to investigate whether certain HLA alleles in the Bulgarian population contribute to COVID-19 progression and their role in anti-SARS-CoV-2 immunity.

Triple inhaled therapy in asthma: Beliefs, behaviours and doubts.

Long-acting muscarinic antagonists (LAMA) in association with inhaled corticosteroids (ICS) plus long-acting beta-2 agonists (LABA) are recommended by the GINA report as further option in step 4 and first choice in step 5 treatment. Despite consistent evidence of its efficacy and safety, inhaled triple therapy (ITT) is still not largely used in patients with asthma. With the aim to explore belief and behaviours of asthma specialists, an ad hoc survey has been developed by a panel of Interasma Scientific Network (INESnet) experts and subsequently defined by two Delphi rounds among an international group of physicians.

Effect of supplementation on trimethylamine-N-oxide levels in 30 patients with atherosclerotic cardiovascular disease: A double-blind randomized controlled trial.

Trimethylamine-N-oxide (TMAO) is a metabolite produced by intestinal microbiota. It is well recognized as an independent risk marker for cardiovascular and renal diseases and mortality.

Serum fibronectin levels in malignant and benign endometrial diseases.

Introduction: Endometrial cancer is currently the most common malignancy of the female reproductive system. The significance of the disease is determined by the search for additional biomarkers with the aim to optimize earlier diagnosis and to help for timely treatment. The objective of this study was to assess the serum levels of fibronectin (FN) in patients with malignant endometrial pathology and to compare them with patients with benign pathology and healthy women.

Assessment of nonadherence to inhalation therapy in asthma and chronic obstructive pulmonary disease in Bulgaria.

Treatment for asthma and chronic obstructive pulmonary disease (COPD) is compromised, quality of life is negatively impacted, and significant financial losses result from nonadherence to the prescribed therapy.

Differential modulation of mutant CALR and JAK2 V617F-driven oncogenesis by HLA genotype in myeloproliferative neoplasms.

It has been demonstrated previously that human leukocyte antigen class I () and class II () alleles may modulate JAK2 V617F and CALR mutation (CALRmut)-associated oncogenesis in myeloproliferative neoplasms (MPNs). However, the role of immunogenetic factors in MPNs remains underexplored. We aimed to investigate the potential involvement of genes in CALRmut+ MPNs.

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees.

Effect of autologous serum after amniotic membrane transplantation for persistent corneal ulcers.

Aim: To investigate the effect of adding autologous serum eye drops to the postoperative regime after amniotic membrane transplantation for severe persistent corneal ulcers.

Methods: Forty eyes of 40 patients with persistent corneal ulcers were randomly assigned to artificial tears (sodium hyaluronate 0.2%, ATs group, =20) or autologous serum eye drops (ASEDs, =20) following treatment with amniotic membrane transplantation.

Telomere Length, HLA, and Longevity-Results from a Multicenter Study.

Aging is an exceptionally complex process that depends on genetic, environmental, and lifestyle factors. Previous studies within the International HLA and Immunogenetics Workshop (IHIWS) component "Immunogenetics of Ageing" showed that longevity is associated with positive selection of HLA-DRB1*11- and DRB1*16-associated haplotypes, shown to be protective against diseases. Within the 18th IHIWS, we aimed to investigate the relevance of telomere length for successful aging and its association with classical HLAs.

Predictors of Care Home Admission and Survival Rate in Patients With Syndromes Associated With Frontotemporal Lobar Degeneration in Europe.

Background And Objectives: Data on care home admission and survival rates of patients with syndromes associated with frontotemporal lobar degeneration (FTLD) are limited. However, their estimation is essential to plan trials and assess the efficacy of intervention. Population-based registers provide unique samples for this estimate.

Effects of Semaglutide on Heart Failure Outcomes in Diabetes and Chronic Kidney Disease in the FLOW Trial.

Background: People with type 2 diabetes (T2D) and chronic kidney disease (CKD) are at high risk for heart failure (HF) and premature death from cardiovascular (CV) causes. The FLOW (Research Study To See How Semaglutide Works Compared to Placebo in People With Type 2 Diabetes and Chronic Kidney Disease), which enrolled participants with T2D and CKD, demonstrated that semaglutide, a glucagon-like peptide-1 receptor agonist, reduced the incidence of the primary composite outcome (persistent ≥50% decline in estimated glomerular filtration rate, persistent estimated glomerular filtration rate <15 mL/min/1.73 m, kidney replacement therapy, and kidney or CV death) by 24%.

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.

Introduction: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.

Case Description: We present the first familial case of Fabry Disease in North Macedonia identified based on clinical manifestations and confirmed through enzyme, biomarker, and genetic tests.

Relationship between Modern ART Regimens and Immunosenescence Markers in Patients with Chronic HIV Infection.

The increased life expectancy of PLHIV (People Living with HIV) and the successful highly combined antiretroviral therapy (cART) poses new clinical challenges regarding aging and its co-morbid condition. It is commonly believed that HIV infection "accelerates" aging. Human immunodeficiency virus type 1 (HIV-1) infection is characterized by inflammation and immune activation that persists despite cART, and that may contribute to the development of co-morbid conditions.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Nutritional Management and Physical Activity in the Treatment of Sarcopenic Obesity: A Review of the Literature.

Background: The prevalence of sarcopenic obesity among adults aged ≥65 years is increasing worldwide. It is a condition that describes the concomitant presence of sarcopenia and obesity, but it appears to be associated with greater increases in the risks for disability, morbidity, and mortality than the two conditions combined. The current review aims to summarize the available literature data on the effectiveness of lifestyle modification for the management of this high-risk geriatric syndrome.

The most frequent HLA alleles around the world: A fundamental synopsis.

A comprehensive knowledge of human leukocyte antigen (HLA) molecular variation worldwide is essential in human population genetics research and disease association studies and is also indispensable for clinical applications such as allogeneic hematopoietic cell transplantation, where ensuring HLA compatibility between donors and recipients is paramount. Enormous progress has been made in this field thanks to several decades of HLA population studies allowing the development of helpful databases and bioinformatics tools. However, it is still difficult to appraise the global HLA population diversity in a synthetic way.