[Case reports of family members with multiple occurrences of aortic dissection]. / Kazuistika clenu rodiny s mnohocetným výskytem aortální disekce.

Aortal dissection belongs to the group of aortal diseases with a high mortality rate and varied clinical account. This disease does not appear very often and therefore it is often diagnosed late. Diagnostic and therapeutic developments have recently improved. Classification and indication criteria about prophylactic interventions on aorta have become more specific. It leads to the gradual decrease of mortality caused by this disease. Frequent accumulation of familiar aortal dissection was described. It can be important for the early identification of individuals at risk. In our casuistry we describe a family with the accumulation of aortal dissection coinciding with Marfan syndrome from the mother's side and the prevalence of this disease in siblings from their patient's father. The evident predisposition was not clearly demonstrated in these cases. We also examined and began to dispenser other members of the family but we did not find an evident predisposition factor. We would like to emphasize the importance of good interdisciplinary and institutional cooperation in diagnostic and treatment of this disease. Further we want to emphasize the contribution of careful sampling of familiar anamnesis in the cases stricken with the disease. We focused on sudden death. It is well known that the gene analysis may contribute to the identification of individuals at risk in these families. We do not have this possibility in our country now.

[Cardiac manifestations of Friedreich's ataxia]. / Kardiální manifestace Friedreichovy ataxie.

Friedreich's ataxia is one of the most frequent ataxias of childhood. The disease is inherited in autosomal recessive mode. It is caused by deficiency of mitochondrial protein frataxin, which is responsible for the degenerative impairment of the spinocerebellar and corticospinal tracts and posterior columns of the spinal cord and for the heart damage. We present a case report of a patient with a complete clinical syndrome. Patient experienced slowly progressive neurological symptomatology from the age of 6 years, which consisted of instability, gait abnormalities, tremor and ataxia. Adult patient became immobile with severe quadruparesis and dysarthria. Cardiac involvement presented in adulthood with multifocal atrial tachycardia became the chief symptom. Hypertrophic cardiomyopathy was diagnosed. Diagnosis of Friedreich's ataxia was confirmed by genetic analysis. Pharmacotherapy with coenzyme Q10 and carnitine was introduced with effort to slow down progression of cardiac impairment. Causal treatment is still impossible.

[Clostridium difficile infection associated with pseudomembranous colitis in district hospitals]. / Asociace infekce Clostridium difficile a pseudomembranózní kolitidy v nemocnici okresního typu.

At a regional hospital serving 150,000 inhabitants, the authors were tracking the occurrence of antibiotic-associated diarrhea caused by a nosocomial infection of the Clostridium difficile, especially its most serious form--pseudomembranous colitis. Six cases of the disease were found in a retrospective study in 2001, another 20 cases were diagnosed while actively searching for the disease from January till September of 2002. The patients suffered from many complications, were of an average age of 69.24 years, their hospitalization averaged 34 days and 15 (52%) of them underwent surgery during their hospitalization. It could be demonstrably proved that 25 cases of nosocomial infection occurred during hospitalization and 3 patients were admitted to hospital with the disease. However, 2 of them had been released from hospital less than 20 days before being admitted again. Twenty-five patients (96%) had been treated with antibiotics, often in combined therapy. Most often this involved penicillin with betalactamas activity (50%), clindamycin (42%) and cefalosporins (42%). We used methods for detecting enterotoxin A in the stool, rectoscopy and anaerobic cultivation of the stool in the diagnostic process. Rectoscopy discovered pseudomembranous colitis in 14 of 17 patients examined this way. The sensitivity for proving enterotoxin A in the stool using EIA, for patients with proven pseudomembranous colitis via rectoscopy, was 75%. Anaerobic cultivation of the stool was done in 12 patients and all the results were negative. The mortality rate of 38% for our group of patients testifies to the seriousness of this disease, which we consider to be the results of antibiotic therapy. In conclusion, nosocomial infection caused by Clostridium difficile is quite often a nosocomial disease, a prognosis that especially worsens for seriously ill patients.