Cerebrovascular incidents differ in patients with permanent and paroxysmal atrial fibrillation.
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Aged↗
Biomedical subjects
Jerzy Kotowicz
Publications and source records attributed to Jerzy Kotowicz.
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↗
[Use of high dose intravenous immunoglobulin in neurologic disease].
Intravenous immunoglobulin has been used generally as a supplement therapy in hypogammaglobulinemia patients. Then it has been shown to be effective in the treatment of patients with thrombocytopenic purpura, and in the last decade, IVIG has been used in the treatment of many autoimmune and systemic inflammatory diseases. In neurologic diseases intravenous immunoglobulin (IVIG) exhibits immunomodulatory properties, depending on the Fc portion of immunoglobulin G. The number of diseases in which IVIG therapy is effective has been demonstrated by controlled clinical trials. The indications for IVIG therapy in neurologic diseases are in four groups: A+ - the basic indication, they have been demonstrated in controlled clinical trials, A - recommended but they have not been proved by clinical trials, B - confirmed by singular trials, C - recommended as a last resort: the indications have not been confirmed any trials. IVIG clinical effect has been shown in trials in patients with GBS, chronic inflammatory demyelinating polyneuropathy, dermatomyositis and multiple sclerosis. An optimal dose and the frequency of IVIG administration depend on the knowledge of the pathophysiology of autoimmune diseases and the mechanism of IVIG action.
Clinical Trials as Topic↗
[Effects of atrial fibrillation on clinical outcome of cerebral ischemic stroke].
Atrial fibrillation is one of the most common cardiac arrhythmia met in clinical practice. Nonregular heart rhythm leads to haemodynamic disturbances and favors thromboembolic complications--most frequently ischemic strokes. Cardioembolic strokes have different symptomatology compared with atherothrombotic strokes. They are characterised by more sudden onset, frequent haemorrhagic transformation and worse prognosis. Until now there is no clear explanation of unfavourable course of stroke in these patients. Concomitant diseases and sudden artery closure in subjects with undeveloped collateral circulation are considered as resulting in more extensive infarct size. Also impact of different forms of atrial fibrillation on the course of cerebrovascular events is not established. Paroxysmal and chronic atrial fibrillation have different influence on haemodynamic and hemostatic parameters what may play an important role in course of acute phase of ischemic stroke. Based on the results of clinical and preclinical studies, the set of data concerning the effects of different forms of atrial fibrillation on acute stroke outcome and actual guidelines of cardioembolic acute stroke treatment are presented.
Atrial Fibrillation↗
[Acute, stroke or thunderclap headache?].
Sudden, acute headache occurring for the first time in life may represent subarachnoid or perimesencephalic haemorrhage but it can also occur in the absence of pathologic conditions. This headache is widely named as "thunderclap" (TCH) or "stroke headache". Pathogenesis, diagnostic evaluation and headache characteristics is presented basing on retrospective evaluation of such patients admitted to Neurological Department between 1990-2002 with symptoms of TCH. The diagnosis of idiopathic TCH was established in 74 (21%) of 368 patients. No clinically significant difference between clinical manifestation of idiopathic and symptomatic TCH was observed. The most common concomitant diseases in idiopathic TCH patients were acute or chronic infections and hypertension. 40% of those patients had elevated inflammatory markers which normalised during hospitalisation in 20% of cases. We observed seasonal incidence with the highest incidence in summer and winter. 20% of patients presented to Neurological Dept with TCH consist of idiopathic, benign condition of unknown aetiology. Observed seasonal incidence with coexisting signs of infection may suggest the role of inflammatory process in benign TCH pathogenesis.
Acute Disease↗
Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.
Potential damage of central and peripheral nervous system expressed as micro-organic brain damage (MOBD) was investigated in 27 unrelated heterozygotes with metachromatic leukodystrophy (MLD). Arylsulfatase A (ARSA) was determined in peripheral blood leukocytes and sulfatide excretion was estimated in 24-hour urine collections. Genomic DNA was analyzed for the ARSA pseudodeficiency (PD) allele by a PCR method. Clinical investigations included examination of hyper-reflexia, Babinski reflex, Wechsler Adult Intelligence Scale, Benton test, evoked potentials, and nerve conduction velocity (NCV). In our study, a higher incidence of evident or possible micro-organic brain damage was observed in true MLD/PD and MLD heterozygotes (NO/MLD, where NO means the wild allele) than in controls. On the basis of the Benton test, MOBD was suggested or indicated in 67% of MLD heterozygotes, 50% of MLD/PD heterozygotes, and 26% of controls. In our small group of carriers with MLD and PD mutations, persons NO/MLD(PD) with one wild-type allele did not show MOBD and displayed higher ARSA/beta-galactosidase ratios, unlike true MLD/PD compound heterozygotes who carry MLD-causing mutation in one allele and the ARSA-PD polymorphism in the second. Theoretically, this is a shift from autosomal recessive to autosomal dominant-like inheritance, especially when one cannot exclude the influence of polymorphisms (like ARSA-PD) in the wild allele. Since all psychological tests were age-matched, it can be assumed that the MOBD observed in MLD carriers does not have a progressive character unlike in MLD patients. However, it should be mentioned that MOBD appears to have no overt clinical consequences.
Adult↗