University of Cagliari

About: University of Cagliari is a education organization based out in Cagliari, Italy. It is known for research contribution in the topics: Population & Dopamine. The organization has 11029 authors who have published 29046 publications receiving 771023 citations. The organization is also known as: Università degli Studi di Cagliari & Universita degli Studi di Cagliari.

The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment.

Abstract: For more than half a decade, lithium has been successfully used to treat bipolar disorder. Worldwide, it is considered the first-line mood stabilizer. Apart from its proven antimanic and prophylactic effects, considerable evidence also suggests an antisuicidal effect in affective disorders. Lithium is also effectively used to augment antidepressant drugs in the treatment of refractory major depressive episodes and prevent relapses in recurrent unipolar depression. In contrast to many psychiatric drugs, lithium has outlasted various pharmacotherapeutic ‘fashions’, and remains an indispensable element in contemporary psychopharmacology. Nevertheless, data from pharmacogenetic studies of lithium are comparatively sparse, and these studies are generally characterized by small sample sizes and varying definitions of response. Here, we present an international effort to elucidate the genetic underpinnings of lithium response in bipolar disorder. Following an initiative by the International Group for the Study of Lithium-Treated Patients (www.IGSLI.org) and the Unit on the Genetic Basis of Mood and Anxiety Disorders at the National Institute of Mental Health, lithium researchers from around the world have formed the Consortium on Lithium Genetics (www.ConLiGen.org) to establish the largest sample to date for genome-wide studies of lithium response in bipolar disorder, currently comprising more than 1,200 patients characterized for response to lithium treatment. A stringent phenotype definition of response is one of the hallmarks of this collaboration. ConLiGen invites all lithium researchers to join its efforts.

Ischemic preconditioning of the muscle improves maximal exercise performance but not maximal oxygen uptake in humans.

Abstract: Brief episodes of nonlethal ischemia, commonly known as “ischemic preconditioning” (IP), are protective against cell injury induced by infarction. Moreover, muscle IP has been found capable of impr...

Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients

Abstract: PURPOSE. To identify the molecular basis of Leber’s congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype–phenotype analysis. METHODS. DNA samples from 95 patients with LCA were analyzed by using a microarray chip containing disease-associated sequence variants in eight LCA genes. In addition, all patients in whom no mutations were identified by microarray were subjected to sequence analysis of the CEP290 gene. Patients with mutations identified underwent a detailed ophthalmic evaluation. RESULTS. Disease-causing mutations were identified in 28% of patients, and twelve novel variants were identified. Mutations occurred more frequently in the RPE65 (8.4%), CRB1 (7.4%), and GUCY2D (5.2%) genes. Mutations in CEP290 were found in only 4.2% of the patients analyzed. Clinical assessment of patients carrying RPE65 or CRB1 mutations revealed the presence of retained visual capabilities in the first decade of life. RPE65 mutations were almost always associated with normal macular thickness, as assessed by optical coherence tomography (OCT), whereas CRB1 mutations were associated with reduced retinal thickness and a coarsely laminated retina. Fundus autofluorescence was mostly observed in patients with RPE65 and GUCY2D mutations and was not elicitable in patients carrying CRB1. CONCLUSIONS. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. This finding suggests that the genetic epidemiology of LCA in Italy is different from that reported in the United States and in northern European countries. Autofluorescence in patients with RPE65 mutations was more frequently associated with preserved retinal thickness, which suggests that these mutations are not associated with progression of retinal degeneration. Therefore, normal retinal thickness (identified with OCT) and fundus autofluorescence may be the means with which to identify patients with LCA who carry RPE65 mutations, which are expected to be a potential gene therapy target in the near future. (Invest Ophthalmol Vis Sci. 2007;48:4284 – 4290) DOI:10.1167/iovs.07-0068

Transvaginal ultrasound vs magnetic resonance imaging for diagnosing deep infiltrating endometriosis: systematic review and meta-analysis.

Abstract: Objectives To perform a systematic review of studies comparing the diagnostic accuracy of TVS and MRI in Deep Infiltrating Endometriosis (DIE) including only studies in which patients have been underwent both techniques. Methods An extensive search of papers comparing TVS and MRI in DIE was performed in Medline (Pubmed) and Web of Sciences from January 1989 to January 2016. Studies were considered eligible if they reported on the use of TVS and MRI in the same set of patients for the preoperative detection of endometriosis in pelvic locations in women with clinical suspicion of DIE using the surgical data as a reference standard. Quality was assessed using QUADAS-2 tool. A random-effects model was used to determine overall pooled sensitivity, specificity, positive likelihood ratio (LR+) and negative likelihood ratio (LR–) and the diagnostic odds ratio (DOR). Results Of the 375 citations identified, 6 studies (n=424) were considered eligible. Pooled sensitivity, specificity, LR+ and LR– of MRI in detecting DIE in the recto-sigmoid for MRI were 0.85 (95% CI, 0.78–0.90), 0.95 (95% CI, 0.83–0.99), 18.4 (95% CI, 4.7–72.4) and 0.16 (95% CI, 0.11–0.24), respectively. Pooled sensitivity, specificity, LR+ and LR– of TVS in detecting DIE in the recto-sigmoid for TVS were 0.85 (95% CI, 0.68–0.94), 0.96 (95% CI, 0.85–0.99), 20.4 (95% CI, 4.7–88.5) and 0.16 (95% CI, 0.07–0.38), respectively. DOR was 116 (95% CI, 23-585) and 127 (95% CI, 14 - 1126), respectively. Pooled sensitivity, specificity, LR+ and LR– of MRI in detecting DIE in the rectovaginal septum for MRI were 0.66 (95% CI, 0.51–0.79), 0.97 (95% CI, 0.89–0.99), 22.5 (95% CI, 6.7–76.2) and 0.38 (95% CI, 0.23–0.52), respectively. Pooled sensitivity, specificity, LR+ and LR– of TVS in detecting DIE in the rectovaginal septum for TVS were 0.59 (95% CI, 0.26–0.86), 0.97 (95% CI, 0.94–0.99), 23.5 (95% CI, 9.1–60.5) and 0.42 (95% CI, 0.18–0.97), respectively. DOR was 65 (95% CI, 21- 204) and 56 (95% CI, 11 - 275), respectively. Pooled sensitivity, specificity, LR+ and LR– of MRI in detecting DIE in the uterosacral ligaments for MRI were 0.70 (95% CI, 0.55–0.82), 0.93 (95% CI, 0.87–0.97), 10.4 (95% CI, 5.1–21.2) and 0.32 (95% CI, 0.20–0.51), respectively. Pooled sensitivity, specificity, LR+ and LR– of TVS in detecting DIE in the uterosacral ligaments for TVS were 0.67 (95% CI, 0.55–0.77), 0.86 (95% CI, 0.73–0.93), 4.8 (95% CI, 2.6–9.0) and 0.38 (95% CI, 0.29–0.50), respectively. DOR was 32 (95% CI, 12- 85) and 12 (95% CI, 7- 24), respectively. Wide confidence intervals of pooled sensitivities, specificities and DOR were present for both techniques in all the considered locations. Heterogeneity was moderate or high for sensitivity and specificity for TVS and MRI in most locations assessed. According to QUADAS2, the quality of the studies was considered good for most domains of the included studies. Conclusions Overall diagnostic performance of TVS and MRI for detecting DIE involving recto-sigmoid, uterosacral ligaments and rectovaginal septum is similar.