Browsing by Author "Rakočević-Stojanović, V. (6603893359)"

Objective: We analyzed temporal and stride characteristics in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2) while performing dual mental and motor tasks, and investigated correlations between gait parameters and cognitive impairments. Method: Dual-task walking was performed by 37 patients (20 DM1 and 17 DM2) and 48 healthy subjects divided into two groups, age- and gender-matched control group for DM1 (HC1) and age- and gender-matched control group for DM2 (HC2). The subjects performed a basic walking task, dual-motor task, dual-mental task, and combined motor and mental task. Results: DM1 and DM2 patients differed significantly in temporal and stride characteristics compared to HC. Main differences in DM1 were slower gait and shorter stride length, while both DM1 and DM2 patients had a higher degree of variation of the swing time during dual-task gait, a parameter that reflects posture and balance. Impact of the cognitive dual task on gait pattern changes was also observed. Visuospatial ability correlated with gait changes in DM1, while executive functions had stronger influence in DM2 (p < 0.01). Both patient groups had leg muscle weakness. Conclusion: Gait pattern was impaired in both patient groups concerning temporal and stride characteristics. Dual-task walking paradigm may discover mild initial gait changes and could provide early identification of fall risks and predict possible falls in DM patients. © 2015 Elsevier B.V.

Objective: We analyzed temporal and stride characteristics in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2) while performing dual mental and motor tasks, and investigated correlations between gait parameters and cognitive impairments. Method: Dual-task walking was performed by 37 patients (20 DM1 and 17 DM2) and 48 healthy subjects divided into two groups, age- and gender-matched control group for DM1 (HC1) and age- and gender-matched control group for DM2 (HC2). The subjects performed a basic walking task, dual-motor task, dual-mental task, and combined motor and mental task. Results: DM1 and DM2 patients differed significantly in temporal and stride characteristics compared to HC. Main differences in DM1 were slower gait and shorter stride length, while both DM1 and DM2 patients had a higher degree of variation of the swing time during dual-task gait, a parameter that reflects posture and balance. Impact of the cognitive dual task on gait pattern changes was also observed. Visuospatial ability correlated with gait changes in DM1, while executive functions had stronger influence in DM2 (p < 0.01). Both patient groups had leg muscle weakness. Conclusion: Gait pattern was impaired in both patient groups concerning temporal and stride characteristics. Dual-task walking paradigm may discover mild initial gait changes and could provide early identification of fall risks and predict possible falls in DM patients. © 2015 Elsevier B.V.

This is the first epidemiological study of myasthenia gravis (MG) in the area of Belgrade. During the survey period (1983-1992), 124 incidental cases of MG were observed, producing an average annual incidence rate of 7.1 per million population (women, 8.3; men, 5.8). Age and sex specific incidence rates for females demonstrated a bimodal pattern, with the first peak in the age group between 20 and 40, and the second peak in the age group 70-80. The age-specific rates for males showed unimodal pattern, reaching a maximum in the age group between 60 and 80. There was a tendency of more frequent disease appearance in the urban as opposed to the suburban districts. On the prevalence day, December 31, 1992, the point prevalence rate was 121.5 per million (women, 142.5; men, 98.8). Only for incidental cases, the point prevalence rate was 77.1 (women, 83.2; men, 70.4). The average annual mortality rate was 0.47 per million (females, 0.52; males, 0.42), while cumulative lethality was 5.6 (women, 5.6; men, 5.7). Most frequently initial symptoms were ocular, occurring in 58% patients. Through the period of investigation ocular symptoms were generalized in 68%, most frequently in the first 2 years (62.5%). Thymoma was confirmed in 11.3% of patients. In this group there was equal presence of both sexes, older median age at onset, and more severe clinical course of MG. Associated autoimmune disease was found in 17 out of 124 incidental cases (13.7%). The most common were thyroid diseases (7.3%). Family history of MG was recorded in 2 cases belonging to 1 family (1.6%).

This is the first epidemiological study of myasthenia gravis (MG) in the area of Belgrade. During the survey period (1983-1992), 124 incidental cases of MG were observed, producing an average annual incidence rate of 7.1 per million population (women, 8.3; men, 5.8). Age and sex specific incidence rates for females demonstrated a bimodal pattern, with the first peak in the age group between 20 and 40, and the second peak in the age group 70-80. The age-specific rates for males showed unimodal pattern, reaching a maximum in the age group between 60 and 80. There was a tendency of more frequent disease appearance in the urban as opposed to the suburban districts. On the prevalence day, December 31, 1992, the point prevalence rate was 121.5 per million (women, 142.5; men, 98.8). Only for incidental cases, the point prevalence rate was 77.1 (women, 83.2; men, 70.4). The average annual mortality rate was 0.47 per million (females, 0.52; males, 0.42), while cumulative lethality was 5.6 (women, 5.6; men, 5.7). Most frequently initial symptoms were ocular, occurring in 58% patients. Through the period of investigation ocular symptoms were generalized in 68%, most frequently in the first 2 years (62.5%). Thymoma was confirmed in 11.3% of patients. In this group there was equal presence of both sexes, older median age at onset, and more severe clinical course of MG. Associated autoimmune disease was found in 17 out of 124 incidental cases (13.7%). The most common were thyroid diseases (7.3%). Family history of MG was recorded in 2 cases belonging to 1 family (1.6%).

[No abstract available]

[No abstract available]

Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically re-examined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles. © 2017, Springer-Verlag GmbH Germany.

Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically re-examined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles. © 2017, Springer-Verlag GmbH Germany.