rubrica

Registri di patologia

  • Emanuele Crocetti1

  1. UO Epidemiologia clinica e descrittiva, ISPO Firenze
Emanuele Crocetti -

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Ricerca bibliografica periodo 2 agosto 2011 – 15 ottobre 2011

Per leggere le caratteristiche di questa ROUTINE di ricerca clicca qui

Database: Pubmed/MEDline
Stringa:
(("registries"[MeSH Terms] OR "registries"[All Fields] OR "registry"[All Fields]) OR ("registries"[MeSH Terms] OR "registries"[All Fields])) AND (("italy"[MeSH Terms] OR "italy"[All Fields]) OR italian[All Fields]) AND "humans"[MeSH Terms] AND ("2011/08/02"[PDat] : "2011/10/15"[PDat])

Di ogni articolo è disponibile l'abstract. Per visualizzarlo basta cliccare sul titolo.

1. Donisi V, Jones J, Pertile R, Salazzari D, Grigoletti L, Tansella M, Amaddeo F. The difficult task of predicting the costs of community-based mental health care. A comprehensive case register study. Epidemiol Psychiatr Sci. 2011 Sep;20(3):245-56.
Section of Psychiatry and Clinical Psychology, Department of Public Health and Community Medicine, University of Verona, Verona, Italy. valeria.donisi@univr.it
Abstract
BACKGROUND: Previous studies have attempted to forecast the costs of mental health care, using clinical and individual variables; the inclusion of ecological measures could improve the knowledge of predictors of psychiatric service utilisation and costs to support clinical and strategic decision-making. METHODS: Using a Psychiatric Case Register (PCR), all patients with an ICD-10 psychiatric diagnosis, who had at least one contact with community-based psychiatric services in the Verona Health District, Northern Italy, were included in the study (N = 4558). For each patient, one year's total cost of care was calculated by merging service contact data with unit cost estimates and clinical and socio-demographic variables were collected. A socio-economic status (SES) index was developed, as a proxy of deprivation, using census data. Multilevel multiple regression models, considering socio-demographic and clinical characteristics of patients as well as socioeconomic local characteristics, were estimated to predict costs. RESULTS: The mean annual cost for all patients was 2,606.11 Euros; patients with an ongoing episode of care and with psychosis presented higher mean costs. Previous psychiatric history represented the most significant predictor of cost (36.99% R2 increase) and diagnosis was also a significant predictor but explained only 4.96% of cost variance. Psychiatric costs were uniform throughout the Verona Health District and SES characteristics alone contributed towards less than 1% of the cost variance. CONCLUSIONS: For all patients of community-based psychiatric services, a comprehensive model, including both patients' individual characteristics and socioeconomic local status, was able to predict 43% of variance in costs of care.
2. Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A. Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. Am J Hematol. 2011 Sep;86(9):727-32. doi: 10.1002/ajh.22096.
CEINGE Biotecnologie Avanzate, Napoli, Italy.
Abstract
Congenital Dyserythropoietic Anemia type II is an autosomal recessive disorder characterized by unique abnormalities in the differentiation of cells of the erythroid lineage. The vast majority of CDA II cases result from mutations in the SEC23B gene. To date, 53 different causative mutations have been reported in 86 unrelated cases (from the CDA II European Registry), 47 of them Italian. We have now identified SEC23B mutations in 23 additional patients, 17 Italians and 6 non-Italian Europeans. The relative allelic frequency of the mutations was then reassessed in a total of 64 Italian and 45 non-Italian unrelated patients. Two mutations, E109K and R14W, account for over one-half of the cases of CDA II in Italy. Whereas the relative frequency of E109K is similar in Italy and in the rest of Europe (and is also prevalent in Moroccan Jews), the relative frequency of R14W is significantly higher in Italy (26.3% vs. 10.7%). By haplotype analysis we demonstrated that both are founder mutations in the Italian population. By using the DMLE+ program our estimate for the age of the E109K mutation in Italian population is ≈2,200 years; whereas for the R14W mutation it is ≈3,000 years. We hypothesize that E109K may have originated in the Middle East and may have spread in the heyday of the Roman Empire. Instead, R14W may have originated in Southern Italy. The relatively high frequency of the R14W mutation may account for the known increased prevalence of CDA II in Italy.
3. Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Dalmasso P, Borggrefe M, Gaita F. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011 Aug 2;58(6):587-95.
Division of Cardiology, University of Turin, San Giovanni Battista Hospital, Turin, Italy.
Abstract
OBJECTIVES: The aim of this study was to investigate the clinical characteristics and the long-term course of a large cohort of patients with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy characterized by an increased risk of sudden death. Data on the long-term outcome of SQTS patients are not available. METHODS: Fifty-three patients from the European Short QT Registry (75% males; median age: 26 years) were followed up for 64 ± 27 months. RESULTS: A familial or personal history of cardiac arrest was present in 89%. Sudden death was the clinical presentation in 32%. The average QTc was 314 ± 23 ms. A mutation in genes related to SQTS was found in 23% of the probands; most of them had a gain of function mutation in HERG (SQTS1). Twenty-four patients received an implantable cardioverter defibrillator, and 12 patients received long-term prophylaxis with hydroquinidine (HQ), which was effective in preventing the induction of ventricular arrhythmias. Patients with a HERG mutation had shorter QTc at baseline and a greater QTc prolongation after treatment with HQ. During follow-up, 2 already symptomatic patients received appropriate implantable cardioverter defibrillator shocks and 1 had syncope. Nonsustained polymorphic ventricular tachycardia was recorded in 3 patients. The event rate was 4.9% per year in the patients without antiarrhythmic therapy. No arrhythmic events occurred in patients receiving HQ. CONCLUSIONS: SQTS carries a high risk of sudden death in all age groups. Symptomatic patients have a high risk of recurrent arrhythmic events. HQ is effective in preventing ventricular tachyarrhythmia induction and arrhythmic events during long-term follow-up.

Breve commento a cura di Emanuele Crocetti
La relazione fra l’intervallo QT breve (SQTS) e la morte improvvisa è una acquisizione relativamente recente fatta dagli autori del presente articolo che hanno anche documentato una delle coorti di pazienti più ampie con questa alterazione elettrocardiografica. In questo articolo viene fatta una valutazione sul rischio di morte improvvisa in pazienti osservati fini a oltre 5 anni valutando il ruolo prognostico della sintomatologia, dell’anamnesi specifica, della presenza di una mutazione in HERG, e delle scelte preventivo-terapeutiche sia farmacologiche (idrochinidina) che con device elettrica (cardioconvertitore-defibrilatore).

4. Trimarchi S, Jonker FH, Hutchison S, Isselbacher EM, Pape LA, Patel HJ, Froehlich JB, Muhs BE, Rampoldi V, Grassi V, Evangelista A, Meinhardt G, Beckman J, Myrmel T, Pyeritz RE, Hirsch AT, Sundt TM 3rd, Nienaber CA, Eagle KA. Descending aortic diameter of 5.5 cm or greater is not an accurate predictor of acute type B aortic dissection. J Thorac Cardiovasc Surg. 2011 Sep;142(3):e101-7. Epub 2011 May 17.
Policlinico San Donato IRCCS, Cardiovascular Center E. Malan, University of Milano, Milan, Italy. santi.trimarchi@unimi.it
Abstract
OBJECTIVE: The risk of acute type B aortic dissection is thought to increase with descending thoracic aortic diameter. Currently, elective repair of the descending thoracic aorta is indicated for an aortic diameter of 5.5 cm or greater. We sought to investigate the relationship between aortic diameter and acute type B aortic dissection, and the utility of aortic diameter as a predictor of acute type B aortic dissection. METHODS: We examined the descending aortic diameter at presentation of 613 patients with acute type B aortic dissection who were enrolled in the International Registry of Acute Aortic Dissection between 1996 and 2009, and analyzed the subset of patients with acute type B aortic dissection with an aortic diameter less than 5.5 cm. RESULTS: The median aortic diameter at the level of acute type B aortic dissection was 4.1 cm (range 2.1-13.0 cm). Only 18.4% of patients with acute type B aortic dissection in the International Registry of Acute Aortic Dissection had an aortic diameter of 5.5 cm or greater. Patients with Marfan syndrome represented 4.3% and had a slightly larger aortic diameter than patients without Marfan syndrome (4.68 vs 4.32 cm, P = .121). Complicated acute type B aortic dissection was more common among patients with an aortic diameter of 5.5 cm or greater (52.2% vs 35.6%, P < .001), and the in-hospital mortality for patients with an aortic diameter less than 5.5 cm and 5.5 cm or greater was 6.6% and 23.0% (P < .001), respectively. CONCLUSIONS: The majority of patients with acute type B aortic dissection present with a descending aortic diameter less than 5.5 cm before dissection and are not within the guidelines for elective descending thoracic aortic repair. Aortic diameter measurements do not seem to be a useful parameter to prevent aortic dissection, and other methods are needed to identify patients at risk for acute type B aortic dissection.
5. Angelini P, Plantaz D, De Bernardi B, Passagia JG, Rubie H, Pastore G. Late sequelae of symptomatic epidural compression in children with localized neuroblastoma. Pediatr Blood Cancer. 2011 Sep;57(3):473-80. doi: 10.1002/pbc.23037. Epub 2011 May 5.
Department of Hematology-Oncology, Giannina Gaslini Children's Hospital, Genova, Italy. paola.angelini@sickkids.ca
Abstract
BACKGROUND: To describe late sequelae and their correlation with presenting clinical features and tumor treatment in children with symptomatic epidural compression (EC) secondary to localized neuroblastoma. PROCEDURES: A total of 98 evaluable children diagnosed with neuroblastoma and EC, who survived a minimum of 2 years were identified in two Italian and French neuroblastoma series. RESULTS: Symptoms of EC at diagnosis included motor deficit in 94 cases and sphincter deficits in 33. Initial treatment was chemotherapy in 66 cases, neurosurgical decompression in 29 and radiotherapy in 3. Chemotherapy was chosen more frequently for younger children and for those with stage 3 disease. Overall treatment consisted of chemotherapy alone in 44 cases, neurosurgery and chemotherapy in 38, radiotherapy and chemotherapy, with or without neurosurgery, in 16. After a median follow-up of 7.3 years, 57 children (58.2%) had one or more sequelae. Motor sequelae involved 50/57 of these children and correlated with age and severity of motor deficit at diagnosis and neurosurgical treatment. Spine deformities involved 27/57 children and were more frequent in those with severe motor deficit at diagnosis, or who were treated by neurosurgery or radiotherapy. Sphincter dysfunctions involved 31/57 children and were more frequent among children who presented with sphincter symptoms and severe motor deficit. CONCLUSIONS: Fifty-eight percent of the children with localized neuroblastoma and symptomatic EC registered in this study developed late sequelae. The severity of motor deficit at diagnosis was the main risk factor.

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