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Ewa Walczak

Publications and source records attributed to Ewa Walczak.

7 recordsLinked to original sources
PubMed2005

A novel desmin R355P mutation causes cardiac and skeletal myopathy.

A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal part of the 2B subunit is the eighth missense mutation, which changes the original aminoacid into proline. Proline is known to disrupt the alpha-helix and distort a unique stutter sequence that is critically important for proper filament assembly.

Adult↗
PubMed2005

Is diagnostic myocardial biopsy useful in the XXI century?

BACKGROUND: Progress in non-invasive diagnostic techniques such as ultrasonography, computerised tomography or magnetic resonance caused a significant decrease in the use of diagnostic myocardial biopsy (DMB). However, recent advances in molecular biology and widening knowledge about the role of new biochemical markers gives hope for more detailed assessment of cardiomyocyte pathophysiology, based on the proper examination of myocardial biopsy specimen. AIM: To assess current usefulness of DMB in the diagnosis of various myocardial disorders and monitoring after heart transplantation. METHODS: DMB was performed in 104 patients (84.6% males) with a clinical diagnosis of idiopathicdilated cardiomyopathy (35.6%), post-inflammatory dilated cardiomyopathy (22.1%), restrictive cardiomyopathy (2.9%), post-infarction myocardial injury (17.3%), ventricular arrhythmias resistant to treatment (2.9%), cardiac tumour (0.96%), suspected arrhythmogenic right ventricular dysplasia (0.96%) and with transplanted heart (17.3%). In each patient 3-4 specimens of the right ventricular cardiac muscle were taken. Immunohistochemical reactions were used to assess the presence of desmin. Myocarditis was diagnosed on the basis of morphological assessment of specimens stained with HE, Mallory trichome and immunohistochemical methods which identified lymphocytes T (CD3, OPD 4, UCHL1), endothelium (CD34) and antigen MHC II (DP, QR). In addition, specimens suggesting laminopathy or amyloidosis were examined under electron microscope. RESULTS: DMB revealed the absence of desmin (19.2%), abnormal concentration of desmin (21.1%), myocarditis (19.2%), so-called vascular myocardial injury (16.3%), other proteinopathies (2.3%), amyloidosis (1.9%), connective tissue diseases (0.96%), arrhythmogenic right ventricular dysplasia (0.96%), toxic injury (0.96%) and normal myocytes (0.96%). CONCLUSIONS: Our results suggest that complex analysis of myocardial biopsy specimen provides detailed information of the pathogenesis of cardiac disorders. However, further progress in molecular biology is needed to achieve more complete diagnosis.

Adult↗
PubMed2002

Unexpected eosinophilic myocarditis in a young woman with rapidly progressive dilated cardiomyopathy.

We present the case of 23-year-old woman with good living conditions, one year history of ventricular arrhythmia and 6 months history of decreased exercise tolerance, who was found to have dilated cardiomyopathy after aborted sudden death. Endomyocardial biopsy did not show specific findings. Within 3 months she developed profound bradycardia requiring pacemaker implantation and refractory heart failure, treated with heart transplantation. Intense eosinophilic myocarditis was found in the explanted heart. Retrospective analysis of the patient's blood count revealed mild eosinophilia (eosinophil count: 0.86 x 109/l) on one examination only. Following heart transplantation the patient had persistent eisinophilia (eosinophil count: 0.62 x 109/l). Although there was no proven parasitic infestation, based on positive family history of Enterobius vermicularis infestation she was treated with broad-spectrum antiparasitic agent: albendazole and her eosinophil count returned to normal values. This case shows that active eosinophilic myocarditis may present clinically as progressive dilated cardiomyopathy with severe involvement of conduction system. Massive myocardial tissue eosinophilia occurred in the setting of mild and transient blood eosinophilia. Favourable outcome following antiparasitic treatment suggests a potential parasitic infestation as a cause of the disease.

Adult↗
PubMed2002

Fibrinogen and smooth muscle cell detection in atherosclerotic plaques from stable and unstable angina -- an immunohistochemical study.

BACKGROUND: This study presents a systematic analysis of atherothrombotic lesions taken by percutaneous atherectomy and post mortem examination from coronary arteries, in order to identify: a) the topographic occurrence of fibrinogen and smooth muscle cells (SMCs), b) their independent expression in stable and unstable plaques, and c) their co-expression, which can provide a better understanding of the involvement of fibrinogen and SMCs in the development and progression of atherosclerotic plaques. MATERIAL/METHODS: 120 specimens from atherosclerotic lesions were collected, using directional coronary atherectomy; 40 additional specimens were collected from postmortem examinations. All specimens were stained by immunohistochemical methods with monoclonal and polyclonal antibodies (DAKO) for fibrinogen and SMCs. RESULTS: Fibrinogen appeared to be a component of all stable and unstable coronary atherosclerotic plaques, with a significant predominance in unstable angina. No significant difference was observed between SMC-stained areas in stable and unstable angina; however, a significant difference exists in co-expression of SMCs and fibrinogen between unstable and stable angina. Interestingly, the total number of SMCs at the first stages of formation of unstable plaques is less than in stable plaques. However, in a number of advanced coronary atherosclerotic plaques associated with unstable angina, we observed an increasingly progressive inflammatory cell activity, in which SMC areas were significantly increased. CONCLUSIONS: This distribution of fibrinogen and SMCs suggests the possibility of a link between SMC migration and proliferation, intensifying the increased fibrinogen concentration in atherosclerotic plaques.

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PubMed2002

Active lymphocytic myocarditis treated with murine OKT3 monoclonal antibody in a patient presenting with intractable ventricular tachycardia.

This report describes the case of a 33-year-old woman with biopsy-proven, active lymphocytic myocarditis manifested by intractable ventricular tachycardia, nonspecific intraventricular block, and myocardial dysfunction. We treated hersuccessfully with OKT3 monoclonal antibody and antiarrhythmic agents. Immunosuppression is not recommended in patients with infectious or postinfectious myocarditis. However, it may have an important role in autoimmune myocarditis. In the few reports in the medical literature that we were able to find, OKT3 monoclonal antibody was administered early in the setting of acute, fulminant autoimmune myocarditis. Our patient received OKT3 therapy in a later phase of the disease, when inflammatory infiltrates were accompanied by extensive fibrosis and severe damage of cardiomyocytes. Our patient had concomitant Helicobacter pylori infection and a strong positive family history of gastric cancer, a disease often associated with H. pylori. We discuss the possibility of a causal relationship between H. pylori infection and autoimmune myocarditis.

Adult↗