Changing pattern of primary hyperoxaluria in Switzerland

Background The clinical course of primary hyperoxaluria (PH) is greatly variable and diagnosis is often delayed. Little is known about the overall occurrence and current prognosis. Methods We evaluated all known patients with PH residing and observed in Switzerland during the last 15 years with the help of a survey among Swiss nephrologists. Results Of the 25 patients observed between 7/79 and 6/94 in Switzerland, 18 were alive in 1994—14 on conservative therapy and four on renal replacement therapy (RRT). Twenty-two patients had PH type 1; the exact type was not determined in three. The estimated prevalence of PH (type 1) is 2 per million population; the minimal incidence is 1 per 100000 live births. Diagnosis was delayed by 8 years (median) except in infants. Five patients were pyridoxine sensitive. According to life table analysis, 20% of patients were in end-stage renal failure (ESRF) and 10% had died by the age of 15 years, and 50% were in ESRF and 20% dead at 25 years. Prognosis has improved: Five of 13 patients died during the first half of the observation period as opposed to two of 20 in the second part. Conclusions Overall prognosis appears better than hitherto believed considering the large clinical spectrum of PH. Greater awareness of PH is needed to improve further long-term prognosi

Synthesis of bicyclo-DNA nucleosides with additional functionalization in the carbocyclic ring

Two novel bicyclo nucleoside isomers carrying the base thymine in the furanose ring and an ester substituent in the carbocyclic ring were synthesized from a common bicyclic sugar precursor via a cyclopropanation/fragmentation pathway in nine steps. The relative configuration of the ester substituent in both isomers as well as the anomeric configuration in one nucleoside was determined by 1H-NMR difference NOE spectroscopy

Bedeutung und Entwicklung des Biologischen Landbaus in der Schweiz

Organic farming has rapidly grown in Switzerland in the past years. It is now well established in agriculture and accepted by consumers. However, recent developments show declining growth rates. This raises the question of the future that can be expected for organic farming in Switzerland. Future trends and potentials of organic farming in Switzerland made subject of two diploma theses in which prospects of the dairy and livestock sector and the fruit and vegetable sector were analysed. With a linear optimization model (farm level), taking into account probable future conditions, the development of supply was estimated. The future evolution of consumer demand was assessed by the means of a qualitative analysis. The analysis of supply and demand showed that there will be structural changes and that a future growth of the organic market is questionable. The problem does not mainly lie in the expected trend of consumer demand but rather in the development of the supply of organic products in Switzerland. In contrast to alternative production systems, organic farming is more labour-intensive, which results in higher per unit production costs. Due to the increasing abolishing of protective measures in the agricultural sector, product prices will continue to decrease. Therefore it is questionable if domestic demand for organic products can be fully met by local production.Agribusiness,

Synthesis, base pairing properties and trans-lesion synthesis by reverse transcriptases of oligoribonucleotides containing the oxidatively damaged base 5-hydroxycytidine

The synthesis of a caged RNA phosphoramidite building block containing the oxidatively damaged base 5-hydroxycytidine (5-HOrC) has been accomplished. To determine the effect of this highly mutagenic lesion on complementary base recognition and coding properties, this building block was incorporated into a 12-mer oligoribonucleotide for Tm and CD measurements and a 31-mer template strand for primer extension experiments with HIV-, AMV- and MMLV-reverse transcriptase (RT). In UV-melting experiments, we find an unusual biphasic transition with two distinct Tm's when 5-HOrC is paired against a DNA or RNA complement with the base guanine in opposing position. The higher Tm closely matches that of a C-G base pair while the lower is close to that of a C-A mismatch. In single nucleotide extension reactions, we find substantial misincorporation of dAMP and to a lesser extent dTMP, with dAMP almost equaling that of the parent dGMP in the case of HIV-RT. A working hypothesis for the biphasic melting transition does not invoke tautomeric variability of 5-HOrC but rather local structural perturbations of the base pair at low temperature induced by interactions of the 5-HO group with the phosphate backbone. The properties of this RNA damage is discussed in the context of its putative biological functio

Ossifikation bei chronischer Achillessehnentendinose: Ein dritter Unterschenkelknochen

Zusammenfassung: Die Ossifikation der Achillessehne stellt eine seltene Komplikation der chronischen Achillessehnentendinose dar. Der vorliegende Fallbericht zeigt bei einem 59-jährigen Patienten nach Achillessehnenverlängerung bei Klumpfuß in der frühen Kindheit eine rekordverdächtige Ossifikation von 10cm Länge. Bei chronischen Beschwerden und erhöhtem Frakturrisiko orientiert sich die Therapiewahl an operativ rekonstruktiven Kriterie

The chemical stability of abasic RNA compared to abasic DNA

We describe the synthesis of an abasic RNA phosphoramidite carrying a photocleavable 1-(2-nitrophenyl)ethyl (NPE) group at the anomeric center and a triisopropylsilyloxymethyl (TOM) group as 2′-O-protecting group together with the analogous DNA and the 2′-OMe RNA abasic building blocks. These units were incorporated into RNA-, 2′-OMe-RNA- and DNA for the purpose of studying their chemical stabilities towards backbone cleavage in a comparative way. Stability measurements were performed under basic conditions (0.1 M NaOH) and in the presence of aniline (pH 4.6) at 37°C. The kinetics and mechanisms of strand cleavage were followed by High pressure liquid chromotography and ESI-MS. Under basic conditions, strand cleavage at abasic RNA sites can occur via β,δ-elimination and 2′,3′-cyclophosphate formation. We found that β,δ-elimination was 154-fold slower compared to the same mechanism in abasic DNA. Overall strand cleavage of abasic RNA (including cyclophosphate formation) was still 16.8 times slower compared to abasic DNA. In the presence of aniline at pH 4.6, where only β,δ-elimination contributes to strand cleavage, a 15-fold reduced cleavage rate at the RNA abasic site was observed. Thus abasic RNA is significantly more stable than abasic DNA. The higher stability of abasic RNA is discussed in the context of its potential biological rol

How to Implement Respondent-Driven Sampling in Practice: Insights from Surveying 24-Hour Migrant Home Care Workers

This article draws on the experience from an ongoing research project employing respondentdriven sampling (RDS) to survey (illicit) 24-hour home care workers. We highlight issues around the preparatory work and the fielding of the survey to provide researchers with useful insights on how to implement RDS when surveying populations for which the method has not yet been used. We conclude the article with ethical considerations that occur when employing RDS