Objective: To determine the incidence of nonsyndromic cleft lip and/or palate in the Czech Republic among infants born during 1994 -2008 as well as to defi ne the ratio per live births and sex ratios. Another aim was to determine whether there was any trend in the incidence in this time period. Design: Retrospective study. Setting: Prague Center for the Treatment of Congenital Facial Anomalies. Material and methods: Data were collected from the National Birth Defects Register (Institute of Health Information and Statistics), the Czech Statistical Offi ce and the Czech Health Statistics Yearbooks. The incidence, ratios per live births and sex differences were calculated. Possible trends in the data series were investigated. Results: Totally 2417 infants with a cleft defect were found among 1 471 789 newborns in time period 1994-2008. The overall incidence was 1.64 per 1000 live births or 1 in 600 live births. The incidence of cleft lip was 0.39/1000, the incidence of cleft palate was 0.68/1000 and the incidence of cleft lip and palate was 0.57/1000. The ratio per live births was 1 in 2648 in cleft lip, 1 in 1801 in cleft lip and palate and 1 in 1505 in cleft palate. The incidence was much higher among male babies in cleft lip patients (male to female ratio 2.07) and in patients with cleft lip and palate (males to females ratio 1.85). The male to female ratio in cleft palate newborns was 0.92. No traceable trend was found in the incidence. Conclusions: In the Czech Republic, every year approximately 170 infants with cleft lip and/or palate were born, the incidence was 1.64 per 1000 live born infants during considered period. Males were affected more frequently with isolated cleft lip and cleft lip and palate, on the other hand, in cleft palate patients, there was a slight dominance of females. Further long-term studies are necessary in order to elucidate reasons of the oscillations in incidence of cleft anomalies, to identify possible teratogens and to give a starting indication for planning health service resource requirements for this group of affected infants (Tab. 3, Fig. 4

Silica and asbestos exposure are thought to belong to the triggering factors of antineutrophil cytoplasm antibodies (ANCA)-associated vasculitis. We carried out a study to find out whether patients with pulmonary involvement attributable to ANCA-associated vasculitis (AAV) have been exposed to silicon-containing materials. Thirty-one patients (12 women, 19 men, median age 51 years) were interviewed using a structured questionnaire. Occupational exposure to silicon-containing chemicals was reported by 22.6% of the patients (12.9% to SiO2, 9.7% to asbestos), compared with 0% of control subjects (p<0.05). Our findings support the pathophysiologic role of silica in AAV.

Background: The optimal therapy for lupus nephritis (LN), including the role of cyclosporine (CsA), still lacks scientifically valid clinical experience. We evaluated the efficacy of CsA in the induction and maintenance treatment of patients with biopsy-proven LN. Patients and Methods: A total of 31 patients (25 women, 6 men, mean age 29.5 years) were enrolled in the study. The majority had proliferative LN. The mean follow-up was 85.6 ± 24.7 months. Results: CsA was used as first-line treatment in 38.7% of patients and as second-line treatment in 61.3% of patients. Complete remission was achieved in 93.5% of patients. The relapse rate was 45.2%. The mean disease-free interval was 33 months. At the end of follow-up, a total of 67.9% of the patients were in remission. The treatment led to significant improvement in proteinuria (p = 0.001) and stabilization of renal function. Conclusion: CsA might be an appropriate and a less toxic alternative drug for LN both as a first-choice and rescue therapy.

Background/Aims: Bone marrow-derived endothelial progenitor cells (EPCs) are believed to contribute to endothelial repair after vascular damage. To investigate the potential for microvascular repair in patients with ANCA-associated vasculitis (AAV), we conducted a cross-sectional study determining the number of circulating EPCs in patients with AAV, chronic uremia, atherosclerosis, and in healthy volunteers. Methods: The number of circulating EPCs was determined by colony-forming assay in 41 patients with AAV, 15 hemodialysis patients (without vasculitis), 13 patients with peripheral arterial occlusive disease (PAOD), and 25 healthy controls. Results: Patients with AAV had a significantly lower number of CFU-Hill than healthy subjects (median 0.3 vs. 19.5 CFU-Hill/ml blood, p < 0.0001), but not than patients on hemodialysis or with PAOD. Neither institution of treatment nor entering remission increased the number of EPCs in AAV patients. The number of EPCs did not correlate with markers of disease activity. AAV patients with glomerular filtration rate <15 ml/min had an even lower number of circulating EPCs than patients with better preserved renal function (median 0.05 vs. 1.2 CFU-Hill/ml, p = 0.015) and patients with anti-MPO positivity had a trend towards a higher number of EPCs than patients with anti-PR3 antibodies (median 3.1 vs. 0.18 CFU-Hill/ml, p = 0.06). Conclusion: Patients with AAV have a significant and persistent deficiency of circulating EPCs. A low number of EPCs could reflect an impaired mechanism of vascular repair and may contribute to repeated relapses in these patients.

Multiple sclerosis (MS) usually develops in young adults with a complex predisposing genetic background. Polymorphisms in the gene for chemokine receptor CCR5 have been proposed to confer susceptibility to or protection from MS. Study of molecules participating in the inflammatory process contributed to the development of a new humanized monoclonal antibody, natalizumab, aimed at the adhesive molecule VLA-4. Natalizumab (Biogen Idec/Elan) went through successful clinical studies and its clinical testing was also carried out in the Czech Republic. Twenty-one patients with MS were included in the AFFIRM study (2-year, placebo-controlled study and consecutive 7-month unblinded natalizumab treatment); immunophenotyping of the cerebrospinal fluid (CSF)- CD4+CCR5+CXCR3+ lymphocytes, using flow cytometer FACSCalibur and monoclonal antibodies (BD Biosciences), was done at the end of natalizumab treatment and 1 year after the therapy withdrawal. Compared to MS patients receiving other therapy, the patients treated with natalizumab had statistically significantly (P < 0.0001) higher levels of CCR5+ and lower levels of CD4+ T lymphocytes in CSF, whereas the levels of CXCR3+ lymphocytes were almost the same as in other patients. CCR5-positive CSF lymphocytes decreased 1 year after treatment withdrawal. Natalizumab treatment alters the percentage of CCR5+ and CD4+ cells in CSF. In view of the excellent temporary clinical results of the therapy, which are yet to be assessed in the course of a longer time period, our results show a possible explanation for the therapeutic success of this drug as well as for the development of progressive multifocal leukoencephalopathy.