Giacomo Andrea Giacomini: a Padua clinician between metaphysics and science

As Professor of Theoretical Medicine for Surgeons at Padua University between 1824 and 1849, Giacomini achieved a position of great academic professionalism and prestige, not only in Padua, but throughout Italy and Europe. His fundamental medical thesis became part of the established field of medical practice that existed into the first decades of the 19th century. This thesis, derived directly from a vitalistic concept of biological phenomena, was based on the existence of a 'life force' that is distinct from the forces of physical-chemistry, having its own specific laws, contrary to those of physical-chemistry. Using this concept Giacomini was able to distinguish two causes of death: mechanical illness and dynamic illness. The nosographic and therapeutic beliefs of Giacomini were based on his distinction between the 'mechanical' or 'dynamic' effects of drugs. Giacomini's medical philosophy is the result of an interweaving of scientific theories and metaphysical ideas. The merits and limits of this philosophy must be analysed in the light of modern epistemology to explain why Giacomini was unable to develop fully clinical anatomy.     

Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome

Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular findings are usually deletions and uniparental disomy (UPD) of the 15q11-13 region. Rarely, structural rearrangements of the pericentromeric region of chromosome 15 are also detected. Two cases with mild PWS phenotype and complex maternal UPD identified by microsatellite analysis are described: the first patient had uniparental iso and heterodisomy and the second displayed biallelic inheritance and uniparental isodisomy.     

The fractal dimension approach in posture: a comparison between Down and Prader–Willi syndrome patients

The suitability of new dynamic system analysis was investigated to compare postural control in Prader-Willi syndrome (PWS) and Down syndrome (DS) patients. Time-domain, frequency-domain parameters and fractal dimension (FD) of centre of pressure (CoP) were computed in maintaining normal standing on a force platform in 20 DS and 13 PWS patients, compared to 26 obese (obese control group, OCG) and 20 healthy individuals (healthy control group, HCG). DS and PWS showed greater displacements along both directions and longer sway path (SP) parameter than HCG and OCG, with statistical differences between PWS and DS for anteroposterior displacement and SP. DS used higher frequency strategy when compared to PWS, OCG and HCG. Both DS and PWS were characterised by greater values of FD than OCG and HCG, with higher values in DS. The analyses in frequency domain and of the dynamic nature of CoP suggest that DS patients are characterised by a more complex and irregular signal than PWS patients.