Browsing by Author "Pavlović, S. (55391635400)"

[No abstract available]

We present the results of the first epidemiological study of ALS in Belgrade. The distribution of 58 newly discovered cases in a 7-year survey period (1985-1991) showed that the average annual age-adjusted incidence rate was 0.42 per 100,000 population (95% confidence interval, 0.18-0.83). The rate for males was 1.5 times higher than the rate for females. The greatest age-specific average incidence rate was observed in patients between 60 and 64 (3.66 per 100,000 population; 95% confidence interval, 2.17-5.78). The actual age-adjusted prevalence rate on December 31, 1991 was 1.07 per 100,000 (95% confidence interval, 0.71-1.71). The mean age at onset of the disease was 56.2 ± 9.8 and it ranged from 24 to 74. We studied the natural course of the disease through the mean duration and cumulative probability of survival. The mean duration of the disease was 27.7 ± 18.2 months. The cumulative probability of survival was 27% for the whole population in a 5-year interval. Elderly patients and those with bulbar signs at onset had a poorer prognosis. Patients under 49 at onset and those with the spinal form of the disease survived longer.

We present the results of the first epidemiological study of ALS in Belgrade. The distribution of 58 newly discovered cases in a 7-year survey period (1985-1991) showed that the average annual age-adjusted incidence rate was 0.42 per 100,000 population (95% confidence interval, 0.18-0.83). The rate for males was 1.5 times higher than the rate for females. The greatest age-specific average incidence rate was observed in patients between 60 and 64 (3.66 per 100,000 population; 95% confidence interval, 2.17-5.78). The actual age-adjusted prevalence rate on December 31, 1991 was 1.07 per 100,000 (95% confidence interval, 0.71-1.71). The mean age at onset of the disease was 56.2 ± 9.8 and it ranged from 24 to 74. We studied the natural course of the disease through the mean duration and cumulative probability of survival. The mean duration of the disease was 27.7 ± 18.2 months. The cumulative probability of survival was 27% for the whole population in a 5-year interval. Elderly patients and those with bulbar signs at onset had a poorer prognosis. Patients under 49 at onset and those with the spinal form of the disease survived longer.

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 (MD) is a multisystem disease affecting numerous organs and systems. Cardiac involvement is frequent. Sudden death, due to fatal cardiac rhythm and conduction disturbances occurs in 30% of patients with MD. The aim of this study was to assess the possibilities and methods of early detection of myocardial and conduction system disturbances. ECG, 24-hr Holter monitoring, echocardiography and electrophysiologic studies of the conduction system (electrophysiologic study) were carried out in 45 patients. Analysis of late ventricular potentials was done in 36 patients. Genetic studies revealed multiplication of CTG triplets in all patients. Cardiological abnormalities were detected in 89% of our patients. Disturbances of intraventricular conduction with prolongation of HV interval were most frequent (72%). Electrophysiologic study was the most sensitive method for detecting heart involvement in MD (positive findings in 87% patients). Abnormal findings were also discovered by Holter monitoring (64%), ECG (58%), analysis of late ventricular potentials (55%) and by echocardiography in 46% patients. The results of this study indicate a high rate of cardiac involvement in MD.

Background: Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. Aim: To report the first Serbian family with a BSCL2 mutation showing variable expression within the family. Patients and methods: A 55-year-old woman presented with weakness of both hands at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in her legs. Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs. There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. Her 25 year-old son had only stiffness of both legs at the age of 22. Physical examination revealed only generalized hyporeflexia. The third affected member in this family was her 55 year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features. Results: In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities. Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients. Concentric needle EMG showed evidence of chronic denervation in distal muscles. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients. Conclusion: This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.

Background: Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. Aim: To report the first Serbian family with a BSCL2 mutation showing variable expression within the family. Patients and methods: A 55-year-old woman presented with weakness of both hands at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in her legs. Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs. There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. Her 25 year-old son had only stiffness of both legs at the age of 22. Physical examination revealed only generalized hyporeflexia. The third affected member in this family was her 55 year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features. Results: In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities. Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients. Concentric needle EMG showed evidence of chronic denervation in distal muscles. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients. Conclusion: This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.

Background. Endomyocardial biopsies in patients with myotonic dystrophy (MD) have, so far, shown changes such as myofibrillar degeneration, mitochondrial abnormalities, focal myocarditis, fibrosis and fatty infiltration of the myocardium and the conduction system. Methods. This study presents the results of endomyocardial biopsy in 10 patients with MD. Endomyocardial biopsy was carried out using King's bioptome. Results. In two patients with severe MD biopsy specimens showed changes compatible with border line myocarditis. In five patients with moderate to severe forms of MD fibrosis and fatty infiltration of the myocardium were found in addition to degenerative changes and hypertrophy of muscle fibers. Three patients with mild MD had non-specific degenerative and hypertrophic myocardial changes. The histological changes described above were present in patients without cardiological symptoms and in those with normal ECG and echocardiographic findings. Only two of the 10 patients in whom endomyocardial biopsy was done complained of fatigue and occasional palpitations while the rest were asymptomatic. One patient with focal myocarditis had ECG signs of left bundle branch block and echocardiographic evidence of reduced left ventricular contractility. Five patients with signs of endomyocardial fibrosis only had an abnormal Q wave on ECG recordings. The remaining five patients with border line myocarditis i.e. with degenerative and hypertrophic myocardial changes had normal ECG and echocardiographic findings. Conclusions. These results stress the significance of endomyocardial biopsy in detecting myocardial pathologic changes in patients with MD.