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1.
Int J Neuropsychopharmacol ; 23(5): 300-310, 2020 05 27.
Article in English | MEDLINE | ID: mdl-31993630

ABSTRACT

BACKGROUND: This prospective cohort study aimed at evaluating patterns of polypharmacy and aggressive and violent behavior during a 1-year follow-up in patients with severe mental disorders. METHODS: A total of 340 patients (125 inpatients from residential facilities and 215 outpatients) were evaluated at baseline with the Structured Clinical Interview for DSM-IV Axis I and II, Brief Psychiatric Rating Scale, Specific Levels of Functioning scale, Brown-Goodwin Lifetime History of Aggression, Buss-Durkee Hostility Inventory, Barratt Impulsiveness Scale, and State-Trait Anger Expression Inventory-2. Aggressive behavior was rated every 15 days with the Modified Overt Aggression Scale and treatment compliance with the Medication Adherence Rating Scale. RESULTS: The whole sample was prescribed mainly antipsychotics with high levels of polypharmacy. Clozapine prescription and higher compliance were associated with lower levels of aggressive and violent behavior. Patients with a history of violence who took clozapine were prescribed the highest number of drugs. The patterns of cumulative Modified Overt Aggression Scale mean scores of patients taking clozapine (n = 46), other antipsychotics (n = 257), and no antipsychotics (n = 37) were significantly different (P = .001). Patients taking clozapine showed a time trend at 1-year follow-up (24 evaluations) indicating a significantly lower level of aggressive behavior. Patient higher compliance was also associated with lower Modified Overt Aggression Scale ratings during the 1-year follow-up. CONCLUSION: Both inpatients and outpatients showed high levels of polypharmacy. Clozapine prescription was associated with lower Modified Overt Aggression Scale ratings compared with any other antipsychotics or other psychotropic drugs. Higher compliance was associated with lower levels of aggressive and violent behavior.


Subject(s)
Aggression/drug effects , Mental Disorders/drug therapy , Practice Patterns, Physicians'/trends , Psychotropic Drugs/adverse effects , Violence , Adolescent , Adult , Cross-Sectional Studies , Drug Prescriptions , Drug Utilization/trends , Female , Humans , Italy , Male , Medication Adherence , Mental Disorders/diagnosis , Mental Disorders/psychology , Middle Aged , Polypharmacy , Prospective Studies , Time Factors , Young Adult
2.
J Endocrinol Invest ; 43(3): 399, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31559585

ABSTRACT

Unfortunately, the 13th author name has been published incorrectly in the original publication.

3.
J Endocrinol Invest ; 43(2): 231-245, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31486992

ABSTRACT

PURPOSE: Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is genetically heterogeneous being associated with mutations in different genes, including MEN1, CDC73, CASR, and recently GCM2. The aim of the study was to further investigate the molecular pathogenesis in Italian FIHP kindreds. METHODS: We used whole exome sequencing (WES) in the probands of seven unrelated FIHP kindreds. We carried out a separate family-based exome analysis in a large family characterized by the co-occurrence of PHPT with multiple tumors apparently unrelated to the disease. Selected variants were also screened in 18 additional FIHP kindreds. The clinical, biochemical, and pathological characteristics of the families were also investigated. RESULTS: Three different variants in GCM2 gene were found in two families, but only one (p.Tyr394Ser), already been shown to be pathogenic in vitro, segregated with the disease. Six probands carried seven heterozygous missense mutations segregating with the disease in the FAT3, PARK2, HDAC4, ITPR2 and TBCE genes. A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis. CONCLUSION: We confirm the role of GCM2 germline mutations in the pathogenesis of FIHP, although at a lower rate than in the previous WES study. Further studies are needed to establish the prevalence and the role in the predisposition to FIHP of the novel variants in additional genes.


Subject(s)
Exome Sequencing/methods , Genetic Variation/genetics , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/genetics , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Pedigree , Young Adult
4.
J Neurooncol ; 126(2): 265-70, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26511493

ABSTRACT

Glioblastoma is the most common and aggressive malignant primary brain tumor. Despite decades of research and the advent of new therapies, patients with glioblastoma continue to have a very poor prognosis. Radiation therapy has a major role as adjuvant treatment for glioblastoma following surgical resection. Many studies have shown that polymorphisms of genes involved in pathways of DNA repair may affect the sensitivity of the cells to treatment. Although the role of these polymorphisms has been investigated in relation to response to radiotherapy, their role as predisposing factors to glioblastoma has not been clarified yet. In the present study, we evaluated the association between polymorphisms in DNA repair genes, namely: XRCC1 rs25487, XRCC3 rs861539 and RAD51 rs1801320, with the susceptibility to develop glioblastoma. Eighty-five glioblastoma patients and 70 matched controls were recruited for this study. Data from the 1000 Genomes Project (98 Tuscans) were also downloaded and used for the association analysis. Subjects carrying RAD51 rs1801320 GC genotype showed an increased risk of glioblastoma (GC vs GG, χ(2) = 10.75; OR 3.0087; p = 0.0010). The C allele was also significantly associated to glioblastoma (χ(2) = 8.66; OR 2.5674; p = 0.0032). Moreover, RAD51 rs1801320 C allele increased the risk to develop glioblastoma also when combined to XRCC1 rs25487 G allele and XRCC3 rs861539 C allele (χ(2) = 6.558; p = 0.0053).


Subject(s)
Brain Neoplasms/genetics , DNA Repair , Glioblastoma/genetics , Polymorphism, Single Nucleotide , Rad51 Recombinase/genetics , Aged , DNA-Binding Proteins/genetics , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Risk Factors , X-ray Repair Cross Complementing Protein 1
5.
Yearb Med Inform ; : 153-7, 2009.
Article in English | MEDLINE | ID: mdl-19855889

ABSTRACT

OBJECTIVES: Health Information systems training is one of the bottlenecks in clinical systems implementation. In this article, a strategy to massively create and train interdisciplinary coordinating teams is described for a project in Uruguay at FEMI, a non-academic setting which includes 23 health care institutions across the country and a tertiary referral center in Montevideo. METHODS: A series of educational activities were designed for the local coordinating teams. They included both onsite and online formats, site visits, integrated with some of the project tasks. RESULTS: In total, 128 professionals from all the Institutions participated in one or more of the training sessions (onsite and online) and 87 of them accomplished one of the forms of training. CONCLUSIONS: Massive basic health informatics training was possible in Uruguay through collaboration with academic institutions at the country and regional level. Next steps include an active involvement of nurses in the educational events and planning of massive training of end users.


Subject(s)
Health Personnel/education , Information Systems , Medical Informatics/education , Computer Systems , Curriculum , Patient Care Team , Uruguay
6.
J Small Anim Pract ; 46(9): 449-53, 2005 Sep.
Article in English | MEDLINE | ID: mdl-16167597

ABSTRACT

A 12-year-old, intact, male mixed-breed dog was presented with anorexia, vomiting and multiple cutaneous nodules on its neck, trunk and hindlimbs. Fine-needle aspiration cytology of the nodules was characterised by a pleomorphic population of cells arranged singly or in small cohesive clusters, embedded in an amorphous mucinous material stained positive by periodic acid-Schiff (PAS). Acinar structures were occasionally found. Cells appeared either small with scant basophilic cytoplasm or large with a histiocytic appearance. Large cells had cytoplasm filled with a PAS-positive granular material. A presumptive diagnosis of cutaneous metastases of a mucinous adenocarcinoma was made. A primary, gastric, signet-ring mucinous adenocarcinoma was confirmed at postmortem examination and by histopathology. To the authors' knowledge, this is the first report of a gastric mucinous adenocarcinoma with cutaneous disseminated metastases in a dog.


Subject(s)
Adenocarcinoma, Mucinous/veterinary , Dog Diseases/pathology , Skin Neoplasms/veterinary , Stomach Neoplasms/veterinary , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/pathology , Animals , Biopsy, Fine-Needle/methods , Biopsy, Fine-Needle/veterinary , Dog Diseases/diagnosis , Dogs , Fatal Outcome , Male , Skin Neoplasms/secondary , Stomach Neoplasms/diagnosis , Stomach Neoplasms/pathology
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