Natural history of the respiratory involvement in Anderson-Fabry disease.

BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow-up. The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease. MATERIALS AND METHODS: Fifty individuals (27 women, 23 men, mean age 40 +/- 14 years) with AFD from 14 families underwent a static spirometric examination under standard conditions. A set of indices was compared with that of the control population. Out of this cohort, 39 individuals not receiving enzyme replacement therapy were longitudinally evaluated (median follow-up time 24 months). RESULTS: A clinically significant reduction in spirometric parameters, corresponding to mild to severe airway obstruction, was observed in 26% of women and 61% of men. During the serial follow-up, a significant (p < 0.05) age-dependent reduction of predicted %FVC and %FEV1 values was observed in male patients, while the influence of age was not seen in female patients. The %FEF(25-75) values decreased by similar degrees in men and women and in older and younger patients, indicating that progressive bronchial disease affects the small airways first. CONCLUSIONS: We have demonstrated a clinically relevant age- and sex-dependent progressive pulmonary involvement in AFD patients. The effects of enzyme replacement therapy on pulmonary involvement remain to be demonstrated.

[Takotsubo cardiomyopathy: case report and literature review]. / Takotsubo kardiomyopatie: popis prípadu a prehled literatury.

The authors present an interesting case report of 69-year-old caucasian woman with Takotsubo cardiomyopathy. Takotsubo cardiomyopathy is a relatively recently described heart syndrome that probably develops due to the direct toxic effect of excessively released catecholamines on cardiac adrenoceptors during emotional or physical stress. The typical features include reversible left ventricular apical dyskinesis, chest pain with ST-T changes on ECG, minimal myocardial enzymatic release and the absence of coronary stenosis on coronary angiogram. Early coronary angiographic examination is highly recommended as the clinical picture of this syndrome mimics acute myocardial infarction. Betablockers are considered to be the treatment of choice.

[Pathophysiology and classification of pulmonary hypertension]. / Patofyziologie a klasifikace plicní hypertenze.

Pulmonary hypertension is present when the mean pulmonary pressure is increased above 25 mm Hg in a rest or above 30 mm Hg during exercise. It is possible to divide it from different point of view. Well known is pathophysiologic classification and Venice classification suggested by WHO symposium 2003. The rise of arterial pulmonary pressure is caused by three essential abnormalities, these are elevated pulmonary vascular resistance, blood flow and pulmonary artery wedge pressure. Vasoconstriction, remodeling of vessels and in situ trombosis are pathogenetic mechanism which contribute to rise of pulmonary hypertension.

[Present ways of diagnosing and treatment of pulmonary hypertension in the Czech Republic]. / Soucasné moznosti diagnostiky a lécby plicní hypertenze v Ceské republice.

Pulmonary hypertension is a condition characterized by elevation of the mean blood pressure in pulmonary artery above 25 mm Hg at rest or above 30 mm Hg during exercise. Pulmonary hypertension signs are not specific. They are frequently camouflaged by signs of a primary disease causing pulmonary hypertension. That causes difficulties with diagnosing and often doesn't lead to recognition of pulmonary hypertension till pressure in pulmonary artery is difficult to manage therapeutically. Treatment of secondary pulmonary hypertension tries to affect primary disease. In patients with pulmonary artery hypertension with preserved vasoreactivity so called conventional treatment is still recommended (vasodilatation treatment with calcium channels blockers, anticoagulation, oxygentherapy, treatment of heart failure). New ways of pharmacotherapy represent administration of prostacyclin, antagonists of endothelin receptors, and phosphodiesterase inhibitors. Nonpharmacology treatment of pulmonary hypertension includes balloon atrial septostomy, lung transplantation, and in chronic thromboembolic pulmonary hypertension pulmonary endarterectomy. Current recommendations for pulmonary hypertension treatment concentrate especially on patients in functional classes NYHA III and IV. In less symptomatic patients there is usually lack of unambiguous clinical data needed for treatment. Owning to seriousness of the disease, its difficult diagnosing and frequently difficult treatment the global trend is to concentrate care of patients with pulmonary hypertension in specialised centers. This problem systematically addresses a center at the 2nd Clinic of Internal Medicine of the 1st Medical Faculty of the Charles University and the General Teaching Hospital in Prague in close cooperation with the Clinic of Cardiovascular Surgery at the General Teaching Hospital in Prague, and the transplantation center at the 3rd Surgical Clinic of the Teaching Hospital Motol in Prague, the Czech Republic.

[Possibilities of psychotherapy in the comprehensive treatment of bronchial asthma]. / Moznosti psychoterapie v komplexní lécbe bronchiálního astmatu.

Asthma bronchiale, as all long-lasting diseases with unpleasant subjective complaints, has a considerable psychic superstructure. It is known that in chronic asthmatic patients psychic influences alone can provoke an attack. The extent and severity of mental factors in the pathogenesis of asthma can be revealed by psychological examination. By aimed psychotherapy the patient's complaints can be mitigated and it is possible to improve his quality of life. The authors give an account of principles they apply during psychotherapy and problems they encounter. The results are documented by selected case-histories. The patients' tolerance of physical work increases, the drug consumption declines as well as the number of sickness days and the length of hospitalization. The authors recommend therefore that psychological examination should be part of examinations of asthmatics and that in selected patients treatment should be supplemented by psychotherapy.