Casa Sollievo della Sofferenza

About: Casa Sollievo della Sofferenza is a healthcare organization based out in San Giovanni Rotondo, Italy. It is known for research contribution in the topics: Population & Cancer. The organization has 2234 authors who have published 6183 publications receiving 239811 citations. The organization is also known as: Home for Relief of the Suffering.

IFN-λ3, not IFN-λ4, likely mediates IFNL3 – IFNL4 haplotype–dependent hepatic inflammation and fibrosis

Abstract: Genetic variation in the IFNL3-IFNL4 (interferon-λ3-interferon-λ4) region is associated with hepatic inflammation and fibrosis. Whether IFN-λ3 or IFN-λ4 protein drives this association is not known. We demonstrate that hepatic inflammation, fibrosis stage, fibrosis progression rate, hepatic infiltration of immune cells, IFN-λ3 expression, and serum sCD163 levels (a marker of activated macrophages) are greater in individuals with the IFNL3-IFNL4 risk haplotype that does not produce IFN-λ4, but produces IFN-λ3. No difference in these features was observed according to genotype at rs117648444, which encodes a substitution at position 70 of the IFN-λ4 protein and reduces IFN-λ4 activity, or between patients encoding functionally defective IFN-λ4 (IFN-λ4-Ser70) and those encoding fully active IFN-λ4-Pro70. The two proposed functional variants (rs368234815 and rs4803217) were not superior to the discovery SNP rs12979860 with respect to liver inflammation or fibrosis phenotype. IFN-λ3 rather than IFN-λ4 likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis.

Brain plasticity in Parkinson's disease with freezing of gait induced by action observation training.

Abstract: Gait disorders represent a therapeutic challenge in Parkinson's disease (PD). This study investigated the efficacy of 4-week action observation training (AOT) on disease severity, freezing of gait and motor abilities in PD, and evaluated treatment-related brain functional changes. 25 PD patients with freezing of gait were randomized into two groups: AOT (action observation combined with practicing the observed actions) and "Landscape" (same physical training combined with landscape-videos observation). At baseline and 4-week, patients underwent clinical evaluation and fMRI. Clinical assessment was repeated at 8-week. At 4-week, both groups showed reduced freezing of gait severity, improved walking speed and quality of life. Moreover, AOT was associated with reduced motor disability and improved balance. AOT group showed a sustained positive effect on motor disability, walking speed, balance and quality of life at 8-week, with a trend toward a persisting reduced freezing of gait severity. At 4-week vs. baseline, AOT group showed increased recruitment of fronto-parietal areas during fMRI tasks, while the Landscape group showed a reduced fMRI activity of the left postcentral and inferior parietal gyri and right rolandic operculum and supramarginal gyrus. In AOT group, functional brain changes were associated with clinical improvements at 4-week and predicted clinical evolution at 8-week. AOT has a more lasting effect in improving motor function, gait and quality of life in PD patients relative to physical therapy alone. AOT-related performance gains are associated with an increased recruitment of motor regions and fronto-parietal mirror neuron and attentional control areas.

Deletion Polymorphism in the Angiotensin-Converting Enzyme Gene in Patients With a History of Ischemic Stroke

Abstract: We evaluated the genotypes of the angiotensin-converting enzyme (ACE) gene in 101 subjects with and 109 subjects without a history of ischemic stroke. All were attending a metabolic ward. The two groups were compared for major risk factors for ischemic events. Genotypes were determined by polymerase chain reaction with oligonucleotide primers flanking the polymorphic region in intron 16 of the ACE gene. Deletion polymorphism of the ACE gene (DD genotype) was shown to be more common in subjects with a history of stroke than in those without (relative risk, 1.76; confidence intervals, 1.02 to 3.05). A positive family history for ischemic complications of atherosclerosis was also more common in subjects with documented events (relative risk, 1.99; confidence intervals, 1.10 to 3.59). DD genotype and a positive family history were strong independent discriminators of cerebral ischemia. Plasma levels of tissue-type plasminogen activator (TPA) and plasminogen activator inhibitor-1 help identify subject...

The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.

Abstract: Twenty-five medical centers and the Prader–Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers contacted PWS subjects and/or their family, filled in a specially developed form with the required data and forwarded this information by email. The study identified 425 subjects (209 males and 216 females, between the ages of 0.4–46.7). Two hundred thirty-eight patients had del15, 104 had UPD15, 4 demonstrated a translocation affecting chromosome 15 and 79 showed a positive methylation test. There were fewer subjects found over the age of 35, probably due to the low rate of identification of older PWS patients as well as the high mortality rate. There were a greater number of male children and adolescents with PWS whilst, amongst adults, there were more females. As expected, the majority of subjects with PWS were obese, especially in adult life. Nevertheless, it is noteworthy that 26% of patients aged between 6 and 17 were normal weight. A total of 212 subjects had received GH treatment, of which 141 were still receiving therapy, while the remaining 71 had stopped. In children and adolescents (233 cases), 89 subjects had never undergone GH therapy. Eighteen PWS patients had died in the past 20 years. Obesity-related cardiovascular and respiratory diseases were the cause of death, both during childhood and after 18 years of age. Three children died suddenly whilst undergoing GH therapy. Respiratory infection and cardiac illness were the causes of death in two cases. There was no definitive cause of death found in the third case. Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death. © 2008 Wiley-Liss, Inc.

Usefulness and limitations of dobutamine-atropine stress echocardiography for the diagnosis of coronary artery disease in patients with left bundle branch block. A multicentre study.

Abstract: Background Patients with left bundle branch block exhibit abnormal septal motion which may limit the interpretation of stress echocardiograms. This study sought to assess the diagnostic value of dobutamine–atropine stress echocardiography in left bundle branch block patients. Methods and Results Sixty-four left bundle branch block patients (mean age 59 years, 24 men) with suspected coronary artery disease underwent dobutamine–atropine stress echocardiography and coronary arteriography. Myocardial ischaemia was defined as new or worsening wall thickening abnormalities. Coronary artery disease was quantitatively defined as a diameter stenosis 50% in a major epicardial artery. Rest septal motion was normal (apart from the early systolic septal notch) in 34 patients (53%) and abnormal in 30 patients (47%). Rest septal thickening was normal in 32 patients (50%) and abnormal in 32 patients (50%). All seven patients with a QRS duration 160 ms and an abnormal QRS axis had abnormal rest septal motion and thickening. Inter-observer agreement for ischaemia was 88%. In all but one patient disagreement was in the septum. For the anterior and posterior circulation, respectively, sensitivity was 60% (9/ 15) and 67% (8/12), specificity was 94% (46/49) and 98% (51/52), and accuracy was 86% (55/64) and 92% (59/64). Sensitivity for the anterior circulation tended to be better in patients with normal rest septal thickening (83% vs 44%). Conclusions Dobutamine–atropine stress echocardiography has excellent diagnostic specificity in left bundle branch block patients with suspected coronary artery disease. In patients with abnormal rest septal thickening, however, dobutamine–atropine stress echocardiography may lack good sensitivity for detection of coronary artery disease in the anterior circulation. Left bundle branch block patients who potentially most benefit from dobutamine–atropine stress echocardiography may initially be selected by their resting electrocardiogram.