[Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families].

The results of clinical and genetic analysis of three Serbian families (pedigrees) with autosomal dominant inheritance, incomplete penetrance and phenotypic features of GEFS+ are presented in this study. Mutation analysis of the SCN1A, SCN1B and GABRG2 genes was performed in all affected and some unaffected members of these three families. Twenty-six exons of SCN1A, five exons of SCN1B and nine exons of GABRG2 were individually amplified using primers based on intronic sequence.

[Management of refractory angina pectoris].

An increasing number of patients with coronary artery disease have ischemic symptoms that are unresponsive to both conventional medical therapy and revascularization techniques. The objective of this study was to define the population of patients with refractory angina pectoris and to present the therapeutic options currently available for this condition. Among many techniques, the enhanced external counterpulsation, transmyocardial laser revascularization and neurostimulation have been shown to reduce angina and to improve objective measures of myocardial ischemia in patients with refractory angina.

[Stunned myocardium].

Background: Stunned myocardium is a state of delayed recovery of regional contractility after a transient period of ischemia followed by reperfusion.

Case Report: A 67-year-old patient was admitted to our hospital with acute anterior myocardial infarction, and treated using percutaneous transluminal coronary angioplasty (PTCA) within acute disease stage. Reversible myocardial dysfunction persisted after ischemia following the return of normal perfusion.

Bacterial pericarditis: diagnosis and management.

Bacterial pericarditis occurs by direct infection during trauma, thoracic surgery, or catheter drainage, by spread from an intrathoracic, myocardial, or subdiaphragmatic focus, and by hematogenous dissemination. The frequent causes are Staphylococcus and Streptococcus (rheumatic pancarditis), Haemophilus, and M. tuberculosis.

Incidence of vascular hemiballism in the population of Belgrade.

Hemiballism is a relatively rare hyperkinetic disorder with unknown incidence. Stroke is the most common cause of hemiballism (vascular hemiballism), responsible for the disorder in 50% to 100% of cases. We studied the incidence of vascular hemiballism in the population of Belgrade (Serbia) 40 years of age or older during the period 1 January 1991 to 31 December 2002.

Bilateral chorea-ballism associated with hyperthyroidism.

We describe a 50-year-old patient with four episodes of recurrent bilateral chorea-ballism (BCB) and associated hyperthyroidism. Reappearance of BCB, associated with increased serum levels of thyroid hormones and lack of relevant changes on brain computed tomography/magnetic resonance imaging scans, suggested that the involuntary movements were likely due to thyrotoxicosis-induced biochemical changes.

[Phenomenology and psychiatric origins of psychogenic non-epileptic seizures].

Introduction: Psychogenic nonepileptic seizure (PNES) is a sudden change in a person's behavior, perception, thinking, or feeling that is usually time limited and resembles, or is mistaken for, epilepsy but does not have the characteristic electroencephalographic (EEG) changes that accompanies a true epileptic seizure [1]. It is considered that PNES is a somatic manifestation of mental distress, in response to a psychological conflict or other stressors [2]. A wide spectrum of clinical presentation includes syncope, generalized tonic-clonic seizure, simple and complex partial seizure, myoclonic seizure, frontal lobe seizures and status epilepticus [3].

Determination of less polar heterocyclic aromatic amines in standardised beef extracts and cooked meat consumed in Austria by liquid chromatography and fluorescence detection.

An analysis method was developed for the determination of trace levels of less polar heterocyclic aromatic amines (HAs) in food samples. The development started from a frequently used sample pre-treatment scheme which was slightly improved to make it applicable with high-performance liquid chromatography (HPLC) with fluorescence detection. The method was applied for the analysis of a standardised beef extract containing 5-15 ng/g of HAs and the results are compared with those of the other participants in the same European project.

Analysis of heterocyclic amines in food products: interlaboratory studies.

A feasibility study and two interlaboratory exercises on the determination of selected heterocyclic amines (HAs) in beef extract, organised in the framework of a European project, are presented. The aim of these exercises was to improve the quality of the laboratories and to evaluate the performance of a standardised analytical method and also the methods currently used by each of the participants for the analysis of these compounds. Three lyophilised portions of a commercial beef material previously spiked with HAs at different concentration levels ranging from 10 to 75 ng g(-1) were used as laboratory reference materials (lot A, B and C).

Ruptured abdominal aortic aneurysm. Predictors of survival in 229 consecutive surgical patients.

Background And Purpose: A ruptured abdominal aortic aneurysm is one of the most urgent surgical conditions with high mortality. The aim of the present study was to define relevant prognostic predictors for the outcome of surgical treatment.

Patients And Methods: This study included 229 subsequent patients (83% males, 17% females, age 67.

Spinocerebellar ataxia type 17 in the Yugoslav population.

Objectives: (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population.

Material And Methods: Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction.

Pericardial disease in pregnancy.

Background: There is no evidence that pregnancy affects susceptibility to pericardial disease. However, when such a condition occurs, its proper diagnosis and management may be crucial for the outcome of the pregnancy.

Incidence And Diagnosis: Hydropericardium is the most frequent form of pericardial involvement in pregnancy.

[Pregnancy and cardiomyopathies].

This overview on the topic of cardiomyopathy and gestation comprises the diagnostic and therapeutic options of patients with preexistent cardiomyopathies (dilated, hypertrophic, inflammatory, and others) and with cardiomyopathies which have been discovered during or in the 6 months following delivery. CARDIOMYOPATHIES PREEXISTENT BEFORE GESTATION: If cardiomyopathy is present before an intended gestation, the couple should be advised against pregnancy because of the high risk of deterioration both during gestation and peripartum. If pregnancy occurs, according to ESC (European Society of Cardiology) recommendations termination should be advised if the ejection fraction is < 50% and/or the LV dimensions are definitely above normal.

Diagnostic value of pericardial biopsy: improvement with extensive sampling enabled by pericardioscopy.

Background: The clinical significance of pericardial biopsy is controversial. The aim of this study was to assess the feasibility and diagnostic value of 3 approaches to pericardial biopsy: fluoroscopic control and standard sampling, pericardioscopy guidance with standard sampling, and pericardioscopy guidance with extensive sampling.

Methods And Results: Forty-nine subsequent patients with a large pericardial effusion underwent parietal pericardial biopsy.

Human viral cardiomyopathy.

Viral infection of the heart is relatively common, usually asymptomatic and has a spontaneous and complete resolution. It can, however, in rare cases, lead to substantial cardiac damage, development of viral cardiomyopathy and congestive heart failure. Viral cardiomyopathy is defined as viral persistence in a dilated heart.

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia.

Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG repeat expansion on chromosome 13q21. However, the role of the CTG repeat in SCA8 pathology is not yet well understood. Therefore, we studied the length of the SCA8 CTA/CTG expansions (combined repeats, CRs) in 115 patients with ataxia, 64 unrelated individuals with non-triplet neuromuscular diseases, 70 unrelated patients with schizophrenia, and 125 healthy controls.

Neoplastic pericardial effusion. Efficacy and safety of intrapericardial treatment with cisplatin.

Aims: To evaluate the clinical efficacy, safety, and long-term effect of intrapericardial treatment with cisplatin in large neoplastic pericardial effusions.

Methods And Results: Out of the registry of 260 patients undergoing pericardiocentesis, 42 patients with neoplastic pericardial effusion (69% males, mean age 58.8+/-13.

Intrapericardial treatment of autoreactive pericardial effusion with triamcinolone; the way to avoid side effects of systemic corticosteroid therapy.

Aims: To evaluate efficacy and safety of intrapericardial treatment with the crystalloid corticosteroid triamcinolone in autoreactive pericardial effusion.

Methods And Results: Two hundred and sixty consecutive patients with pericarditis/myopericarditis underwent pericardiocentesis, pericardioscopy (Storz-AF1101B1), and epicardial biopsy with pericardial fluid and tissue analyses. By polymerase chain reaction for cardiotropic viruses/bacteria in pericardial effusion and epicardial biopsies as well as by immunohistochemistry and immunocytochemistry of epicardial and endomyocardial biopsies, 84/260 patients were classified as autoreactive pericarditis and underwent intrapericardial instillation of triamcinolone (group 1: 54 patients, 50% males, mean age 48.

Long-term prognosis of vascular hemiballismus.

Background And Purpose: The aim of this study was to prospectively evaluate the long-term prognosis of hemiballismus due to first-ever ischemic strokes.

Methods: A cohort of 27 patients with hemiballismus due to first-ever ischemic strokes was followed for a mean period of 30 months (range, 5 days to 150 months).

Results: During the follow-up period there were 11 deaths (44%).

Dilated cardiomyopathies as a cause of congestive heart failure.

Definition And Classification: Cardiomyopathies are disorders affecting the heart muscle that frequently result in congestive heart failure. Five major forms are recognized: dilated, hypertrophic, restrictive, right ventricular, and nonclassifiable cardiomyopathies with distinct hemodynamic properties. Furthermore, the new WHO/WHF definition also comprises inflammatory cardiomyopathy, defined as myocarditis in association with cardiac dysfunction.