Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disorder in Caucasians, and is associated with at least one mutation on each CF transmembrane conductance regulator (CFTR) allele. Some patients, however, with only one identifiable point mutation carry on the other allele, a large deletion that is not detected by conventional screening methods. The overall frequency of large deletions in patients with CF is estimated to be 1-3%. Using the CFTR Multiplex Ligation dependent Probe Amplification Kit (MRC-Holland, Amsterdam, Netherlands) that allows the exact detection of copy numbers from all 27 exons in the CFTR gene, we screened 50 patients with only one identified mutation for large deletions in the CFTR gene. Each detected deletion was confirmed using our real-time polymerase chain reaction (PCR) assay and deletion-specific PCR reactions using junction fragment primers. We detected large deletions in eight patients (16%). These eight CF alleles belong to four different deletion types (CFTRindel2, CFTRdele14b-17b, CFTRdele17a-17b and CFTRdele 2-9) whereof the last is novel. Comparing detailed clinical data of all these patients with CF and the molecular genetic findings, we were able to elaborate criteria for deletion screenings and possible genotype-phenotype associations. In conclusion, we agree with other authors that deletion screenings should be implemented in routine genetic diagnostics of CF.

Farmer land allocation for maize, groundnut and cotton production in Chipata District, Eastern Province, Zambia

Small-scale farmers in the Chipata District of Zambia rely on their farm fields to grow maize and groundnuts for food security. Cotton production and surplus food security crops are used to generate income to provide for their families. With increasing population pressure, available land has decreased and farmers struggle to provide the necessary food requirements and income to meet their family’s needs. The purpose of the study was to determine how a farmer can best allocate his land to produce maize, groundnuts and cotton when constrained by labor and capital resources to generate the highest potential for food security and financial gains. Data from the 2008-2009 growing season was compiled and analyzed using a linear programming model. The study determined that farmers make the most profit by allocating all additional land and resources to cotton after meeting their minimum food security requirements. The study suggests growing cotton is a beneficial practice for small-scale subsistence farmers to generate income when restricted by limited resources.

The Republican Alternative. The Netherlands and Switzerland Compared

The Republican Alternative seeks to move beyond the mere notion of scholarly inquiry into the republic—the subject of recent rediscovery by political historians interested in Europe’s intellectual heritage—by investigating the practical similarities and differences between two early modern republics, as well as their self-images and interactions during the turbulent seventeenth and eighteenth centuries. Among the world’s most economically successful societies, Switzerland and the Netherlands laid much of the foundation for their prosperity during the early modern period discussed here. This volume attempts to clarify the special character of these two countries as they developed, including issues of religious plurality, the republican form of government, and an increasingly commercially-driven agrarian society.

Opera seria nördlich der Alpen – venezianische Einflüsse auf das Musikleben am Dresdner Hof um die Mitte des 18. Jahrhunderts

La cultura musicale delle corti dell'Europa centrale nel '700 viene contrassegnata dal successo dell' "Opera seria", un genere musicale e drammatico che nonostante le sue origini italiane si espande e si diffonde rapidamente ovunque in Europa adattandosi da caso a caso ad esigenze e condizioni locali. La relazione prende in esame l'attività della principessa elettrice della Sassonia Maria Antonia Walpurgis di Baviera (1724 – 1780) che a partire dal suo arrivo a Dresda nel 1747 prende una parte assai attiva nella vita musicale della corte che occupava uno dei primi posti in Europa. Grazie alla sua dotazione musicale Maria Antonia stringe rapporti di lavoro con alcuni dei più importanti musicisti d'epoca che erano i suoi maestri e insegnanti, soprattutto con Johann Adolf Hasse formatosi a Venezia che dal 1730 era capo musicista della corte sassone. Hasse che soltanto ora viene riscoperto come compositore assistette la principessa nell'elaborazione delle sue "Opere serie". Essenziali anche i rapporti con Pietro Metastasio che oltre ad essere il più famoso librettista dell'Opera seria di allora era anche legato all'ambiente degli Arcadi che acclamarono socia onoraria la principessa a causa delle sue opere serie "Talestri e Il Trionfo della fedeltà" che segnano l'apice della sua attività da compositrice musicale. Viene sottolineato il ruolo importante della ricerca per il "vero buon gusto“e la preferenza per la semplicità della musica antica intesa come musica italiana in contrasto con la musica di gusto francese. Dopo il 1766 le opere della principessa segnate dall'influenza che ebbe la tradizione veneziana sulla vita musicale alla corte di Dresda venne criticata in Germania per il suo gusto italiano.