Schweizerische medizinische Wochenschrift最新文献

Unlabelled: The clinical course of cystic fibrosis (CF) is characterised by chronic bronchial infection with Pseudomonas aeruginosa. Therapy with inhaled aminoglycosides was introduced to decrease the rate of infectious exacerbations and to delay pulmonary progression. However, development of resistance to aminoglycosides is frequent. Few investigations are available into the resistance profile under treatment with colistin. Antibiotic resistance to colistin was analysed in 44 adult CF patients treated with inhaled colistin. Resistance to aminoglycosides was observed in 86% of cases (38/44) before therapy and decreased to 43% (19/44) under treatment with colistin. Five patients (11%) developed polymyxin resistance. After cessation of therapy pseudomonas became sensitive to polymyxin within a few months and enabled colistin to be reintroduced. In addition, we performed a pilot study analysing the effect of inhaled colistin on the growth of pseudomonas. The number of Pseudomonas aeruginosa decreased from 16.7 million (CFU) bacteria per ml sputum to 2.9 million under therapy with colistin. There was a more than tenfold increase in bacterial counts after inhaled colistin was stopped. Genotyping revealed no change in the type of pseudomonas strains.

Conclusion: Development of resistance to polymyxin is not rare under long-term treatment with inhaled colistin and requires temporary interruption of therapy. Sputum cultures should therefore be tested regularly for polymyxin resistance in patients treated with inhaled colistin.

Lung transplantation has become a valid therapeutic option for cystic fibrosis patients with end-stage lung disease. The indication for transplantation does not rely on strict criteria only but must be evaluated case by case. In particular, the dynamics of the clinical course need to be considered with regard to impaired physical performance, recurrent infections, decline in pulmonary function and weight loss. Important risk factors are a poor nutritional status, osteoporosis, liver involvement, previous pleurodesis and the occurrence of multiresistant bacteria. Management and assessment of cystic fibrosis patients for lung transplantation is complex. Therefore patients should be referred to specialised centres at an early stage.

Unlabelled: The clinical course of cystic fibrosis is characterised by pulmonary involvement with mucus retention, chronic pulmonary infection and parenchymal inflammation. Recurrent infectious exacerbations are usually accompanied by a fall in lung volumes. This pilot study investigated whether exacerbations can be detected early by daily spirometry. Ten patients with cystic fibrosis (5 female; 5 male; mean age 24.9 years) performed daily spirometry using a portable transtelephonic spirometer (Spirophone). Infectious exacerbations were diagnosed on clinical grounds and treated without knowledge of the spirometry results. Data of 9 patients recorded over a period of 5-11 months were analysed. One patient was excluded due to non-compliance. A total of 20 infectious exacerbations occurred during the observation period. A fall of at least 20% in one or more of the following parameters was observed in 90% (18/20) of exacerbations: FVC, FEV1, PEF, and FEF25/75. A daily drop in lung volumes of 0.7% to 1.2% was recorded beginning at a median of 33 (20 to 120) days before infectious exacerbations were diagnosed. There was a 2-3% daily improvement in spirometric data under treatment with antibiotics.

Conclusion: Daily spirometry allows early recognition of pulmonary infectious exacerbations in patients with cystic fibrosis. Daily spirometry may be used as an indicator for early antibiotic treatment.

The Swiss Registry for Cystic Fibrosis (SRCF) was designed to collect demographic, clinical and therapeutic data from patients with cystic fibrosis (CF) in Switzerland. It was designed, programmed and implemented for standalone application in Swiss cystic fibrosis centres. It is part of the European Registry for Cystic Fibrosis (ERCF), which has been implemented in Europe to collect data on the use and safety of dornase alpha (Pulmozyme) in the treatment of cystic fibrosis. At the time of first evaluation 245 cystic fibrosis patients are registered, their mean age is 13 years, and 17% are over 18. In larger databases in Germany or North America we observe comparable demographic data, similar degrees of severity and similar therapeutic approaches to those in Swiss cystic fibrosis patients. The aim of the Swiss Registry is to cover the maximum possible number of cystic fibrosis patients from this country.

We present a genetic and epidemiological study of trisomy 21 (T21) in the Canton of Vaud, the area covered by our local registry of congenital anomalies which has participated in EUROCAT Switzerland since 1988. During the period 1980-1996, we found 240 new T21 cases, all cytogenetically proven, out of 115,064 consecutive live births. Our purpose was to study trends and impact of biochemical screening and prenatal diagnosis of T21. We considered two different periods: 1980-1989 (before biochemical screening) and 1990-1996 (with screening) during which the mean maternal ages were respectively 28.4 years (10.6% > or = 35) and 29.2 years (12.9% > or = 35). The total prevalence of T21 was 2.08 per 1000; 5.4% of the cases were stillbirths, 49.6% were induced abortions and 45% livebirths. Prenatal cytogenetic diagnosis of trisomy 21 was performed in 52.1% of cases. Among women aged 35 or over the prenatal detection rates are superposable in the two periods. However, for younger women this rate has been much higher since the introduction of biochemical screening, i.e. 9.8% before and 51.8% after the introduction of triple test. In conclusion, the increase in prenatal diagnosis tests performed because of abnormal maternal serum marker levels has increased the global prenatal detection rate from 36.6% to 63.3% in our population, and the prevalence of Down syndrome has thus slightly decreased among livebirths.

Since 1988 the epidemiological surveillance of congenital anomalies (malformations, chromosomal aberrations, metabolic diseases, hereditary diseases, neurosensorial defects, etc.) is carried out by the Swiss registry of EUROCAT (European Registry of Congenital Anomalies and Twins). Several Swiss cantons collaborate through their own local registry, transmitting data to the central registry in Lausanne. We present the main objectives and methods of registration and give the global prevalence rates for the main malformations for 1996 and the period 1993-1996.

In the context of the EUROCAT study, data on selected congenital malformations and chromosome aberrations were collected from the Canton of Zurich (1988-1997). It was found that the major proportion of severe and early malformations, such as anencephalus and holoprosencephaly, were detected prenatally; for oral clefts and meningomyeloceles this was not the case, at any rate in regard to isolated (non-syndromic) malformations. However, if these defects occur in combination with a chromosome aberration, the likelihood of such a case being registered is higher. For the same reason, i.e. due to abnormal ultrasound findings and intrauterine growth retardation, trisomies 13 and 18 were more often detected prenatally than trisomy 21.

This article is based on the study of 52 cases of Turner's syndrome, born between 1980 and 1996 and recorded in the Registry of Congenital Anomalies in the Canton of Vaud. In most cases the cytogenetic analysis was based on maternal multiple-marker screening, sonography findings or maternal age. The most common chromosome abnormality is complete monosomy X. The rare cases of mosaic and the one case of isochromosome mainly involve livebirths. Morphological analysis of foetuses revealed hygroma colli (84%) and hydrops (63%), frequently associated with major cardiac malformations. The livebirths present growth retardation, pterygium colli and facial dysmorphic features, but rarely complex malformations. In the light of our data, the probability of survival to birth is 0.8% and the prevalence in all clinical pregnancies is 1.1%.