Browsing by Author "Ralic, Vesna (56047406400)"

Introduction: The aim of this study was to assess the frequency and features of metabolic syndrome (MetS) in myotonic dystrophy type 1 (DM1). Methods: We studied 66 DM1 patients (50% men, aged 41.9±10.5 years, disease duration of 19.3±8.6 years). New worldwide consensus criteria for MetS from 2009 were used. Results: Components of MetS were present at the following frequencies: hypertriglyceridemia 67%; low HDL cholesterol 35%; hypertension 18%; central obesity 14%; and hyperglycemia 9%. MetS was present in 11 (17%) patients. The presence of MetS was not associated with patients' gender, age, disease severity, disease duration, or CTG repeat length (P>0.05). Patients with MetS had significantly lower total SF-36 scores as a measure of quality of life in comparison to patients without MetS (P<0.05). Conclusion: Although certain components of MetS were very frequent in patients with DM1, only 17% met the criteria for MetS. © 2014 Wiley Periodicals, Inc.

Introduction: The aim of this study was to assess the frequency and features of metabolic syndrome (MetS) in myotonic dystrophy type 1 (DM1). Methods: We studied 66 DM1 patients (50% men, aged 41.9±10.5 years, disease duration of 19.3±8.6 years). New worldwide consensus criteria for MetS from 2009 were used. Results: Components of MetS were present at the following frequencies: hypertriglyceridemia 67%; low HDL cholesterol 35%; hypertension 18%; central obesity 14%; and hyperglycemia 9%. MetS was present in 11 (17%) patients. The presence of MetS was not associated with patients' gender, age, disease severity, disease duration, or CTG repeat length (P>0.05). Patients with MetS had significantly lower total SF-36 scores as a measure of quality of life in comparison to patients without MetS (P<0.05). Conclusion: Although certain components of MetS were very frequent in patients with DM1, only 17% met the criteria for MetS. © 2014 Wiley Periodicals, Inc.

Introduction: In this study we analyzed transcranial sonography (TCS) in patients with myotonic dystrophy type 1 (DM1). Methods: This cross-sectional study included 66 DM1 patients and 55 matched healthy controls (HCs). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) and third ventricle width (DTV) were assessed by TCS. Results: BR hypoechogenicity was more common in DM1 patients than in HCs (37.7% vs. 7.8%, P<0.01). Patients with depression or fatigue were more likely to have BR hypoechogenicity (80.0% vs. 29.4%, P<0.01 and 51.9% vs. 24.2%, P<0.05, respectively). Both hypoechogenicity and hyperechogenicity of SN were more frequent in DM1 patients than in controls (26.2% vs. 10.9% and 13.1% vs. 1.8%, respectively, P<0.01). DTV was increased in DM1 patients compared with HCs (6.0±1.4 vs. 4.9±0.9 mm, P<0.01). Conclusion: TCS can offer new insight into structural changes of several cerebral areas in patients with DM1. © 2014 Wiley Periodicals, Inc.

Introduction: In this study we analyzed transcranial sonography (TCS) in patients with myotonic dystrophy type 1 (DM1). Methods: This cross-sectional study included 66 DM1 patients and 55 matched healthy controls (HCs). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) and third ventricle width (DTV) were assessed by TCS. Results: BR hypoechogenicity was more common in DM1 patients than in HCs (37.7% vs. 7.8%, P<0.01). Patients with depression or fatigue were more likely to have BR hypoechogenicity (80.0% vs. 29.4%, P<0.01 and 51.9% vs. 24.2%, P<0.05, respectively). Both hypoechogenicity and hyperechogenicity of SN were more frequent in DM1 patients than in controls (26.2% vs. 10.9% and 13.1% vs. 1.8%, respectively, P<0.01). DTV was increased in DM1 patients compared with HCs (6.0±1.4 vs. 4.9±0.9 mm, P<0.01). Conclusion: TCS can offer new insight into structural changes of several cerebral areas in patients with DM1. © 2014 Wiley Periodicals, Inc.

Background: Myotonic dystrophy type 1 (DM1) is a rare disease. Creating registry for such a disease is of outstanding importance since it provides us with a full spectrum of the disorder. Aim: To assess variability of different multisystemic features in a large cohort of patients with DM1. Patients and Method: Data from the Serbian registry for myotonic dystrophies were used in the study. Final number of included DM1 subjects was 275. Results: Registry included 53.8% of male patients. Age at enrollment was 47.2±9.9 years, mean disease duration 20.4±9.9 years, and mean CTG repeats number 598.3±269.8.Progression of muscle weakness was pretty slow, slower in proximal than distal muscles, and slower in arms than in legs. Severe ECG abnormality was found in 25.0% of patients and pacemaker was implanted in 9.5%. Lens opacities were observed in 83.5% of DM1 patients and 35.3% had ocular hypotony. Metabolic disturbances were very common, while 19.5% of patients had hypokalemia and 37.8% hypochloremia. Sterility was found in 20.5% of males and 4.1% of females. Cholelithiasis was found in 36.4% of patients and constipation in 29.9%. Conclusions: We defined the most common characteristics of our DM1 patients and observed some treatable symptoms that have been neglected previously. Certain findings deserve further investigations in terms of their causes and consequences. Besides this, presented data analysis directs us to make further improvements of the registry. © W. S. Maney & Son Ltd 2015.

Background: Myotonic dystrophy type 1 (DM1) is a rare disease. Creating registry for such a disease is of outstanding importance since it provides us with a full spectrum of the disorder. Aim: To assess variability of different multisystemic features in a large cohort of patients with DM1. Patients and Method: Data from the Serbian registry for myotonic dystrophies were used in the study. Final number of included DM1 subjects was 275. Results: Registry included 53.8% of male patients. Age at enrollment was 47.2±9.9 years, mean disease duration 20.4±9.9 years, and mean CTG repeats number 598.3±269.8.Progression of muscle weakness was pretty slow, slower in proximal than distal muscles, and slower in arms than in legs. Severe ECG abnormality was found in 25.0% of patients and pacemaker was implanted in 9.5%. Lens opacities were observed in 83.5% of DM1 patients and 35.3% had ocular hypotony. Metabolic disturbances were very common, while 19.5% of patients had hypokalemia and 37.8% hypochloremia. Sterility was found in 20.5% of males and 4.1% of females. Cholelithiasis was found in 36.4% of patients and constipation in 29.9%. Conclusions: We defined the most common characteristics of our DM1 patients and observed some treatable symptoms that have been neglected previously. Certain findings deserve further investigations in terms of their causes and consequences. Besides this, presented data analysis directs us to make further improvements of the registry. © W. S. Maney & Son Ltd 2015.