A5057567634- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Peptidase Inhibition and Analysis
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Peripheral Neuropathies and Disorders
- Gout, Hyperuricemia, Uric Acid
- Herpesvirus Infections and Treatments
- Interpreting and Communication in Healthcare
- Romani and Gypsy Studies
- Moyamoya disease diagnosis and treatment
- Glycogen Storage Diseases and Myoclonus
- Hepatitis Viruses Studies and Epidemiology
- Long-Term Effects of COVID-19
- Trypanosoma species research and implications
- Cardiac electrophysiology and arrhythmias
- Fetal and Pediatric Neurological Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Folate and B Vitamins Research
- COVID-19 Clinical Research Studies
- Cardiomyopathy and Myosin Studies
- Liver Disease and Transplantation
- Sarcoidosis and Beryllium Toxicity Research
Alexandrovska Hospital
2011-2023
Medical University of Sofia
2010-2020
The prevalence of hepatitis E virus (HEV) in the Bulgarian population remains underestimated. aim present study was to evaluate age and gender trends HEV heterogeneous population. Stored serum samples from blood donors different patient sub-populations-kidney recipients (KR), patients with Guillain-Barre syndrome (GBS), Lyme disease (LD), liver involvement a clinical diagnosis other than viral A (non-AE), hemodialysis (HD) HIV-positive (HIV)-were retrospectively investigated for markers past...
ABSTRACT SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases epilepsy, such as some families with genetic epilepsy febrile seizures plus (GEFS+). While most caused by de novo mutations, 5% inherit mutation from mildly affected or symptom‐free parent. Parental mosaicism has been identified, documented involving truncating gene rearrangements. We describe Roma/Gypsy family, where missense , p.D194N, is transmitted mosaic GEFS+ father to...
Background: Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in either the NPC1 (in 95% of cases) or NPC2 gene. Methods: In prospective, observational cohort study, all Bulgarian patients diagnosed with NP-C to date (since 2010) underwent detailed neurological examination and neuro-ophthalmological, neuropsychological psychiatric evaluations, as well brain MRI, abdominal ultrasound hearing tests. Plasma chitotriosidase was also...
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by destabilized mutant form (TTR), transport protein predominantly produced liver.The aims current study are to demonstrate Bulgarian experience with screening programs among high-risk patient population over last 7 years, present results therapy TTR stabilizer in our cohort, as well stress on importance...
Efficient maintenance of the integrity endothelium cerebral blood vessels is crucially important, especially when vessel walls are subjected to greater-than-normal levels stress. Persistently high genotoxic stress may result from lower capacity detect and repair DNA damage conferred by carriership variants key genes repair/maintenance genomic integrity. Adult Bulgarian patients with a history vascular accidents (CVAs) age-matched healthy controls were analyzed for 11 markers, including 7...
We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family the same and Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar patients. Although initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy symptomatic carriers...