Využití farmakogenetiky při léčbě warfarinem - editorial

A. Vašků

Vnitr Lek 2009, 55(6):541  

Twenty years of care for cystic fibrosis adults in Czech Republic

L. Fila, V. Sedlák, I. Binková, P. Jakubec, R. Bittenglová, J. Musil

Vnitr Lek 2009, 55(6):542-548  

Introduction:Most of cystic fibrosis (CF) patients survive now into adulthood and they are transferred to pulmonologist care. Aims: An overview of progress in care for CF adults in Czech Republic and evaluation of relationship of pulmonary function, nutritional status and airway colonization. Methods:All adult CF patients followed in pulmonary departments from December 1987 to December 2007 were included into study. Data about survival status, pulmonary function, nutritional status, airway colonization and other pulmonary and extrapulmonary manifestations of CF were collected from patients' records. Results:Total...

Alemtuzumab in chronic lymphocytic leukemia treatment: retrospective analysis of outcome according to cytogenetics

M. Doubek, A. Jungová, M. Brejcha, A. Panovská, Y. Brychtová, Z. Pospíšil, J. Mayer

Vnitr Lek 2009, 55(6):549-554  

Alemtuzumab is effective in B-cell chronic lymphocytic leukemia (CLL) with 17p deletion, which responds poorly to chemotherapeutic agents. Our retrospective study evaluated the benefit of alemtuzumab monotherapy in unselected patients with advanced CLL, categorized by cytogenetic profile. Data were collected from 74 consecutive who had received alemtuzumab. Median of previous therapies was 2. The incidence of cytogenetic abnormalities was: trisomy 12, 10%; 13q deletion, 13%; 11q deletion 25%; 17p deletion, 26%; none of these, 26%. The overall response rate was 65% (11% complete remission, 54% partial remission) in the whole cohort. From start of alemtuzumab...

Is confirmation of an adrenal adenoma in patients with primary aldosteronism sufficient for indication of adrenalectomy?

M. Ballon, J. Ceral, M. Solař, A. Krajina, J. Raupach, L. Ungermann

Vnitr Lek 2009, 55(6):555-559  

Background:Primary aldosteronism is one of the most common forms of secondary arterial hypertension. Adrenalectomy is effective in patients with proven unilateral hypersecretion of aldosterone whereas pharmacotherapy is indicated in bilateral forms of the disease. We can meet the opinion that in patients with confirmed primary aldosteronism and finding of suprarenal adenoma ≥ 1 cm on computed tomography (CT) scanning, adrenalectomy can be recommended without further investigation. On the other hand we can perform adrenal venous sampling (AVS) to prove unilateral overproduction of aldosterone. Objectives:To evaluate whether...

Relationships of hormones of adipose tissue and ghrelin to bone metabolism

I. Žofková

Vnitr Lek 2009, 55(6):560-564  

Body adipose tissue influences bone metabolism through mechanical load, as well as via hormones released into circulation. Such hormones are adipocytokines - leptin, adiponectin, TNF-α, IL-6, resistin and visfatin. Some of them exert an osteoanabolic effect, while the others activate bone resorption. An increasingly discussed adipocytokine is leptin, which fundamental role is regulation of food intake ensuring survival of the organism during starvation. Leptin also stimulates osteoblasts and activates bone formation. The direct osteotropic effect of leptin is modulated by interaction with hypothalamic centers and neurohormones. Apparently, the...

Application of warfarin pharmacogenetics

A. Tomek, V. Maťoška, T. Kumstýřová, L. Táborský

Vnitr Lek 2009, 55(6):565-569  

Even with its narrow therapeutic index, interindividual variability in daily dose and possible serious bleeding complications, is warfarin the mainstay of therapy and prevention of thromboembolic disease. The application of pharmacogenetics in testing individual polymorphisms of two genes CYP 2C9 (pharmacokinetics of warfarin) and VKORC1(sensitivity on warfarin) is promising tactics leading to a safe anticoagulation. The first of two applications of pharmacogenetics is assesment of the daily dose of warfarin for individual patients even before starting the therapy. The second is the risk stratification of already warfarinized patients: The carriers...

The treatment of renal failure in multiple myeloma

Z. Adam, M. Krejčí, M. Tichý, S. Štěpánková, L. Pour, R. Hájek

Vnitr Lek 2009, 55(6):570-582  

While in some patients, renal failure is the only, isolated sign of multiple myeloma, other patients have further simultaneous symptoms (signs of bone destruction, hypercalcaemia, cytopenia). Therefore, differential diagnosis of renal failure should always include monoclonal gametopathy-associated nephropathy. Renal damage is caused dominantly by free light chains. Elevated early mortality reaches 30% during the first 3 months and complicates treatment of patients with multiple myeloma with renal failure. More serious the renal damage caused by monoclonal immunoglobulin is, less likely is the improvement of renal function following treatment. Early...

The case of familial adenomatous polyposis and a proposal for the system of dispensarisation

J. Trna, L. Husová, M. Oliverius, M. Dastych jr., M. Šenkyřík, V. Příbramská

Vnitr Lek 2009, 55(6):587-592  

We present a case of a 46 years old female with familial adenomatous polyposis of the colon. The adenocarcinoma had been treated using all available oncology therapeutic modalities. Late post-radiation changes caused ileus that required acute surgical revision, and formation of difficult-to-define enterovesical fistula that led to recurring urosepsis. When the conservative methods, including enteral and, subsequently, home total parenteral nutrition, were unsuccessful, the patient underwent successful surgery with resection of the affected intestinal loops, part of the bladder, evacuation of an abscess in the small pelvis and terminal jejunostomy....

Localized tracheobronchial amyloidosis, type AA, and its differentiation from the systemic form of amyloidosis in clinical practice

M. Džingozovová, J. Skřičková, J. Mačák, K. Múčková, Z. Adam

Vnitr Lek 2009, 55(6):593-598  

67-year-old patient with chronic obstructive pulmonary disease and chronic pansinusitis suffered from attacks of dyspnea, cough and common cold repeatedly. The chest X-ray was without clear pathology. Because of repeated difficulties, a bronchoscopic examination was made and a diagnosis of amyloidosis was made twice (bronchial biopsy, excision). The patient in our case suffered from a tracheobronchial form of amyloidosis (type AA most probably) together with chronic pansinusitis.

Venous thromboembolism in an oncology patient

A. Uhrinová, P. Gavorník, I. Vacula

Vnitr Lek 2009, 55(6):599-603  

Venous thromboembolism is a common complication in many patients with different types of malignant tumors. In this paper we describe a case of a patient with cancer in remission, who developed pulmonary embolism.

Ascites in Mulibrey syndrome

L. Husová, P. Husa

Vnitr Lek 2009, 55(6):604-607  

The authors describe a case of 22 years old adult male with Mulibrey syndrome. This is an autosomal recessive hereditary disease that manifests through multiple malformations. Diagnosis of Mulibrey syndrome in the present case was first based on clinical signs (facial dysmorphia, growth disorder, muscle hypotrophy) and was later confirmed by genetic examination. At the age of 18 months, the patient underwent surgery for Wilms' tumour followed by cytostatic therapy. Facial, neck and lower extremities oedemas started to occur from the age of 11 years when diastolic ventricular dysfunction was also diagnosed. Pericardiectomy was performed at the age of...

Z odborné literatury

Vnitr Lek 2009, 55(6):608-610  

From the diagnosis of celiac disease to the prospect of legislative changes

Peter Makovický, Pavol Makovický

Vnitr Lek 2009, 55(6):583-586  

Celiac disease is diagnosed in children as well as adults. For long now, this has not been a rare diagnosis. Publications by local authors have warned, as early as 1990ies, that this disease is extremely under-diagnosed, as confirmed by current clinical practice. Despite this, it is evident that the prevalence of this disease in Slovakia and the Czech Republic is high. Currently, it is assumed that the traditional symptomatic form of the disease represents just a fraction of the overall prevalence. As a consequence to the gradual introduction of the disease screening and the efforts of the medical community to diagnose the disease in its early stages,...