Browsing by Author "Stojanovic, Vidosava Rakocevic (6603893359)"

The aim of this study was to analyze survival, causes of death and cardiologic predictors of sudden death in a large cohort of patients with myotonic dystrophy type 1 (DM1). The study was comprised of 171 adult DM1 patients hospitalized at the Neurology Clinic in a 20-year period. Severe electrocardiographic (ECG) abnormality included at least one of the following: rhythm other than sinus, PR interval of ≥240 ms, QRS complex duration of 120 ms or more, and second-degree or third-degree atrioventricular (AV) block. Survival data were analyzed by the Kaplan-Meier test, log-rank test and Cox regression analysis. During the mean follow-up period of 9.4 ± 5.4 years, a pacemaker was implanted in 5.8% of DM1 patients and 14% of patients died. The mean age at death was 55.6 ± 12.5 years. The most common causes of death in our cohort were sudden death (41.7%) and respiratory failure (29.2%). The presence of palpitations (hazard ratio [HR] = 4.7, p < 0.05) and increased systolic blood pressure (HR = 9.8, p < 0.05) were significant predictors of sudden death. Among ECG parameters, severe ECG abnormality (HR = 4.7, p < 0.05), right bundle branch block (RBBB; HR = 3.9, p < 0.05) and bifascicular block (HR = 5.8, p < 0.05) were significant predictors of sudden death. © 2013 Elsevier Ltd. All rights reserved.

The aim of this study was to analyze survival, causes of death and cardiologic predictors of sudden death in a large cohort of patients with myotonic dystrophy type 1 (DM1). The study was comprised of 171 adult DM1 patients hospitalized at the Neurology Clinic in a 20-year period. Severe electrocardiographic (ECG) abnormality included at least one of the following: rhythm other than sinus, PR interval of ≥240 ms, QRS complex duration of 120 ms or more, and second-degree or third-degree atrioventricular (AV) block. Survival data were analyzed by the Kaplan-Meier test, log-rank test and Cox regression analysis. During the mean follow-up period of 9.4 ± 5.4 years, a pacemaker was implanted in 5.8% of DM1 patients and 14% of patients died. The mean age at death was 55.6 ± 12.5 years. The most common causes of death in our cohort were sudden death (41.7%) and respiratory failure (29.2%). The presence of palpitations (hazard ratio [HR] = 4.7, p < 0.05) and increased systolic blood pressure (HR = 9.8, p < 0.05) were significant predictors of sudden death. Among ECG parameters, severe ECG abnormality (HR = 4.7, p < 0.05), right bundle branch block (RBBB; HR = 3.9, p < 0.05) and bifascicular block (HR = 5.8, p < 0.05) were significant predictors of sudden death. © 2013 Elsevier Ltd. All rights reserved.

Objective Diagnostic procedures are often overused in the attempt to substitute for the good clinical examination. The aim of this study was to evaluate the type and the accuracy of the referral diagnosis to our EMG lab, as well as the impact of electrodiagnostic (EDX) examination on the diagnosis of our patients. Methods In this prospective study all patients examined in the six months period in a single tertiary referral EMG lab were analyzed. All patients were tested in a uniform fashion and by the same neurologist, according to the referral diagnosis. Results EDX examination was performed in 570 patients. Most of the patients (43.9%) were referred with the diagnosis of polyneuropathy, lumbosacral (23.7%) or cervical (11.2%) radiculopathy and myasthenia gravis (11.6%). The outcome after EDX examination was: diagnosis confirmation in 49.6% of patients, new clinically relevant diagnosis in 16%, incidental diagnosis in 4% and normal EDX examination in 36.1% of patients. EDX examination confirmed referral diagnosis more often in patients referred by neuromuscular neurologists, while normal EDX finding was reported more often in patients referred by other neurologists. Conclusion This study has confirmed the inappropriateness of a large number of referrals to EDX testing, especially made by the non-neuromuscular neurologists. © 2016 Elsevier B.V.

Objectives. Cross-sectional studies reported fatigue in 50-90% of patients with myotonic dystrophy type 1 (DM1). The aim of this research was to assess frequency of fatigue in DM1 patients during a seven-year period. Materials and methods. Study included 64 DM1 patients at baseline (50% males, age 42 ± 12 years), and 38 after seven years. Following scales were used: Muscular Impairment Rating Scale (MIRS), Fatigue Severity Scale (FSS, score equal to or greater than 36 indicates significant fatigue), and Daytime Sleepiness Scale (DSS, score of more than six is considered significant). Results. At baseline, 54% of DM1 patients had fatigue and 46% had excessive daytime sleepiness (EDS). Ten (32%) patients with fatigue had no EDS. At the baseline, patients with fatigue were older, were more likely to had adult-onset DM1, worse MIRS and DSS compared to the patients without fatigue. After seven years, FSS score increased (34 ± 15 vs 48 14, p < 0.01), fatigue was found in 82% of patients, and EDS in 60%. Still eight (26%) patients with fatigue had no EDS. Fatigue progression did not parallel MIRS increase. Conclusions. Fatigue is a common symptom of DM1 and its progression during time did not correlate with the progression of muscle weakness. © Gaetano Conte Academy - Mediterranean Society of Myology

Background: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency. Due to the phenotypic heterogeneity of these disorders, however, it is often difficult for clinicians to reach a diagnosis for patients with Pompe disease. Six hundred and six patients from a European population were recruited onto our study. Inclusion criteria stipulated that index cases must present with limb-girdle weakness or elevated serum creatine kinase activity. Whole exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. A panel of 169 candidate genes for limb-girdle weakness was analysed for disease-causing variants. Results: A total of 35 variants within GAA were detected. Ten distinct variants in eight unrelated index cases (and four siblings not sequenced in our study) were considered disease-causing, with the patients presenting with heterogeneous phenotypes. The eight unrelated individuals were compound heterozygotes for two variants. Six patients carried the intronic splice site c.-13 T > G transversion and two of the six patients also carried the exonic p.Glu176ArgfsTer45 frameshift. Four of the ten variants were novel in their association with Pompe disease. Conclusions: Here, we highlight the advantage of using whole exome sequencing as a tool for detecting, diagnosing and treating patients with rare, clinically variable genetic disorders. © 2017 The Author(s).

Myopathic changes are frequent a electrophysiological finding in patients with muscle specific tyrosine kinase (MuSK) positive myasthenia gravis (MG). The aim of this study was to explore the importance of quantitative electromyography (EMG) in the detection of myopathic changes in MuSK MG patients. Classical and quantitative EMG were performed in 31 MuSK and 28 acetylcholine receptor (AChR) positive MG patients, matched by sex, age, disease duration and severity. Classical EMG revealed the presence of myopathic changes more frequently in MuSK MG compared to AChR MG patients, especially in the facial muscles. Quantitative EMG registered myopathic lesions more frequently than classical EMG, but the frequency was similar between MuSK and AChR MG patients. Quantitative EMG revealed myopathic changes in the majority of both MuSK and AChR positive MG patients. This examination is sensitive, but it cannot be used to differentiate between MG patients belonging to the different disease groups. It should not be used in isolation. Rather, it should complement classical EMG in the detection of myopathic changes. © 2015 Elsevier Ltd.

Myopathic changes are frequent a electrophysiological finding in patients with muscle specific tyrosine kinase (MuSK) positive myasthenia gravis (MG). The aim of this study was to explore the importance of quantitative electromyography (EMG) in the detection of myopathic changes in MuSK MG patients. Classical and quantitative EMG were performed in 31 MuSK and 28 acetylcholine receptor (AChR) positive MG patients, matched by sex, age, disease duration and severity. Classical EMG revealed the presence of myopathic changes more frequently in MuSK MG compared to AChR MG patients, especially in the facial muscles. Quantitative EMG registered myopathic lesions more frequently than classical EMG, but the frequency was similar between MuSK and AChR MG patients. Quantitative EMG revealed myopathic changes in the majority of both MuSK and AChR positive MG patients. This examination is sensitive, but it cannot be used to differentiate between MG patients belonging to the different disease groups. It should not be used in isolation. Rather, it should complement classical EMG in the detection of myopathic changes. © 2015 Elsevier Ltd.

Objectives: To assess the frequency and type of peripheral neuropathy (PNP) in patients with myotonic dystrophy type 1 (DM1), as well as to identify factors that may be associated with this abnormality. Methods: This study comprised 111 adult patients with DM1. Nerve conduction study was performed on sural, peroneal and median nerves of both limbs. Results: PNP was somewhat more frequent in DM1 patients with glucose intolerance and diabetes mellitus (66.7 vs 33.7%, P=0.05). In DM1 patients with no glucose intolerance, diabetes mellitus and thyroid dysfunction, the most frequent type of PNP was demyelinating (70.0%) and motor (83.3%). PNP was more frequent in males (45.7 vs 20.9%, P<0.05). Patients with PNP were older (43.7±7.3 vs 39.6±9.6 years, P<0.05) and had a longer duration of DM1 compared to those without PNP (18.6±9.9 vs 12.7±8.3 years, P<0.01). DM1 patients with PNP had a higher body mass index) (24.9±5.5 vs 22.4±4.2 kg/cm2, P<0.05), higher triglycerides (3.1±3.3 vs 1.8±0.8 mmol/l, P<0.01), total cholesterol (6.2±1.4 vs 5.4±1.1 mmol/l) and LDL cholesterol (4.3±1.2 vs 3.4±1.0, P<0.05). Achilles reflexes were absent in 76.9% patients with PNP and in 51.9% patients without PNP (P<0.05). Patellar reflexes and muscle strength were similar in both groups (P<0.05). Conclusions: PNP was present in one-third of DM1 patients. The most common type was motor and demyelinating PNP. Our results suggest the association between the presence of peripheral nerve impairment in DM1 and male gender, age, duration of disease and certain metabolic parameters. © W. S. Maney & Son Ltd 2013.

Objectives: To assess the frequency and type of peripheral neuropathy (PNP) in patients with myotonic dystrophy type 1 (DM1), as well as to identify factors that may be associated with this abnormality. Methods: This study comprised 111 adult patients with DM1. Nerve conduction study was performed on sural, peroneal and median nerves of both limbs. Results: PNP was somewhat more frequent in DM1 patients with glucose intolerance and diabetes mellitus (66.7 vs 33.7%, P=0.05). In DM1 patients with no glucose intolerance, diabetes mellitus and thyroid dysfunction, the most frequent type of PNP was demyelinating (70.0%) and motor (83.3%). PNP was more frequent in males (45.7 vs 20.9%, P<0.05). Patients with PNP were older (43.7±7.3 vs 39.6±9.6 years, P<0.05) and had a longer duration of DM1 compared to those without PNP (18.6±9.9 vs 12.7±8.3 years, P<0.01). DM1 patients with PNP had a higher body mass index) (24.9±5.5 vs 22.4±4.2 kg/cm2, P<0.05), higher triglycerides (3.1±3.3 vs 1.8±0.8 mmol/l, P<0.01), total cholesterol (6.2±1.4 vs 5.4±1.1 mmol/l) and LDL cholesterol (4.3±1.2 vs 3.4±1.0, P<0.05). Achilles reflexes were absent in 76.9% patients with PNP and in 51.9% patients without PNP (P<0.05). Patellar reflexes and muscle strength were similar in both groups (P<0.05). Conclusions: PNP was present in one-third of DM1 patients. The most common type was motor and demyelinating PNP. Our results suggest the association between the presence of peripheral nerve impairment in DM1 and male gender, age, duration of disease and certain metabolic parameters. © W. S. Maney & Son Ltd 2013.

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 to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL. Material and Methods: Forty-five genetically confirmed patients with CMT1A 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 Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study. Results: Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = −0.34, p < 0.05), longer disease duration (rho = −0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (rho = −0.68, p < 0.01), more severe disability in upper (rho = −0.70, p < 0.01) and lower limbs (rho = −0.61, p < 0.01) measured by ONLS scores, use of walking aids (p < 0.01), and with depression (p < 0.01) and fatigue (p < 0.01). Worse scores on CMTES (beta = −0.43, p < 0.01), BDI (beta = −0.39, p < 0.01), and FSS (beta = −0.36, p < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted R2 = 0.77, p < 0.001). Conclusion: Besides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment. Copyright © 2022 Ivanovic, Bjelica, Palibrk, Brankovic, Bozovic, Basta, Savic, Stojanovic and Kacar.

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 to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL. Material and Methods: Forty-five genetically confirmed patients with CMT1A 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 Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study. Results: Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = −0.34, p < 0.05), longer disease duration (rho = −0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (rho = −0.68, p < 0.01), more severe disability in upper (rho = −0.70, p < 0.01) and lower limbs (rho = −0.61, p < 0.01) measured by ONLS scores, use of walking aids (p < 0.01), and with depression (p < 0.01) and fatigue (p < 0.01). Worse scores on CMTES (beta = −0.43, p < 0.01), BDI (beta = −0.39, p < 0.01), and FSS (beta = −0.36, p < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted R2 = 0.77, p < 0.001). Conclusion: Besides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment. Copyright © 2022 Ivanovic, Bjelica, Palibrk, Brankovic, Bozovic, Basta, Savic, Stojanovic and Kacar.