A5065880780- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Myasthenia Gravis and Thymoma
- Biochemical and Molecular Research
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Metabolism and Genetic Disorders
- Nerve injury and regeneration
- Long-Term Effects of COVID-19
- Lysosomal Storage Disorders Research
- Antifungal resistance and susceptibility
- Genetic factors in colorectal cancer
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Pain Mechanisms and Treatments
- BRCA gene mutations in cancer
- Multiple Sclerosis Research Studies
- Multiple Myeloma Research and Treatments
- Trypanosoma species research and implications
- Vestibular and auditory disorders
Univerzitetski Klinički Centar Srbije
2021-2024
University of Belgrade
2019-2024
Centar za Promociju Nauke
2020-2024
Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there increasing evidence of metabolic abnormalities SMA patients, such as altered fatty acid metabolism, impaired glucose tolerance, and defects functioning muscle mitochondria. Given that data literature are scarce regarding this subject, purpose study was to estimate prevalence lipid metabolism disorders adult...
Introduction The association between chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes is uncertain despite important diagnostic management implications. Methods We retrospectively analysed two European cohorts, totaling 257 patients with ‘definite’ or ‘probable’ CIDP, from Serbia Birmingham, UK. Results Diabetes was present at CIDP diagnosis in 25/139 (18%) subjects the Serbian cohort 23/118 (19.5%) UK cohort. In both prevalence higher than local general population rates...
Chronic inflammatory demyelinating polyneuropathy (CIDP) may be rarely preceded by infection. A causative link remains unproven, in contrast to Guillain-Barré syndrome (GBS), which is commonly postinfectious with well-demonstrated pathophysiological mechanisms of molecular mimicry following Campylobacter jejuni enteritis. Uncommonly, infections are reported before the onset CIDP. In this study we aimed determine frequency and characteristics CIDP occurring after antecedent or vaccinations...
Introduction Charcot-Marie-Tooth type 1A (CMT1A) comprises ~50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed investigate the quality life (QoL) in Serbian patients with assess sociodemographic clinical features associated their QoL. Material Methods Forty-five genetically confirmed were included −60% women [age 50.4 ± 12.6 years, disease duration 22 (12.5–31.5) years]. SF-36, Medical Research Council (MRC) Sum...
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim this study was to describe the clinical genetic manifestations six patients with adult-onset VLCADD.In study, clinical, pathological findings adult (four from Iran two Serbia) VLCADD their response treatment are described.The median (range) age at first...
We studied the performance of a 15-item, health-related quality-of-life polyneuropathy scale in longitudinal study patients with chronic inflammatory demyelinating (CIDP).Sixty-one CIDP completed Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) and Patient Impression Change (PIC) at baseline follow-up visits. Clinicians Inflammatory Neuropathy Cause Treatment (INCAT) disability scores Conventional modern psychometric analyses were performed on forms.CAPPRI was psychometrically...
Abstract Background The rationale for this paper is a description of patient from Southeast Europe with genetically confirmed Huntington’s disease (HD), coexisting sporadic, bulbar-onset amyotrophic lateral sclerosis (ALS). To the best our knowledge, total number reported cases coexistence HD and ALS less than 20. Thus, it an extremely rare condition speculated to be in range 2 6 per billion, data part World are completely missing. Case presentation Here we report 72-year-old female family...
Abstract Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which patient underwent genetic testing, but of potential value in care. In this study, we evaluated 81 American College Medical Genetics (ACMG) medically actionable genes 443 patients with various neurological disorders. The variants identified were classified reported following 2015 ACMG Standards Guidelines interpretation sequence recommendations reporting (v3.2). We...
Background: Recent literature data highlights metabolic changes in amyotrophic lateral sclerosis (ALS). To explore possible early changes, we aimed to analyse the fatty acids (FA) composition of erythrocytes newly diagnosed als patients and see whether acid levels correlate with ALSFRS-R score or disease duration. Methods: The severity motor function involvement was assessed by scale at initial evaluation. profile erythrocyte membranes analysed gas-liquid chromatography. study comprised 26...
Myasthenia gravis (MG) is a disease with impaired transmission at the neuromuscular junction, characterised by weakness and fatigability of skeletal muscles. In acquired autoimmune MG, antibodies against acetylcholine receptor (AChRAb) or muscle-specific tyrosine kinase (MuSKAb) are present. There not much data about immunoglobulin G (IgG) galactosylation in none based on interactions lectins. This study aims to examine IgG two types myasthenia, using affinity immunoelectrophoresis lectin...
The most frequently used ability outcome measure in Guillain-Barré syndrome (GBS) is the GBS disability scale (GDS). Recently developed inflammatory Rasch-built overall (I-RODS) has been suggested to be polyneuropathies. In present study, we wanted assess comparative responsiveness of I-RODS and GDS subjects who were diagnosed with during a follow-up period 6 months.Our prospective, multicentric study included 72 subjects. Patients tested, using I-RODS, on day 14, 28, month 3, from start...
Introduction/aim: Although myotonic dystrophy type 2 (DM2) is generally milder than DM1, quality of life (QoL) seems to be similarly impaired in these two disorders. There are no studies that assessed QoL during DM2. Our aim was assess and disease outcome patients with DM2 after a five-year follow-up period. Material Methods: Study originally comprised 49 at baseline. During the period, seven died, eight were lost follow-up, one patient moved, refused testing. The Short Form (36) Health...
Hexanucleotide repeats expansion in the C9orf72 gene is most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) cases Europe. In this study we aimed to determine size distribution alleles, investigate possible association repeat with several clinical parameters ALS patients from Serbia. Patients were recruited 2011-2021 analysed using fragment length analysis Southern blot. Out 383 patients, have detected 31 (8.09%) expansion. total cohort, overlap frontotemporal...