Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease METHODS: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. RESULTS: In 209 patients (57.4\ub114.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. CONCLUSIONS: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series

Valutazione stress lavoro-correlato in un'azienda sanitaria siciliana: criticità e spunti di riflessione

In accordo con l’OMS, il D.Lgs. 81/08 ha introdotto l’obbligo di valutare in tutte le realtà lavorative il rischio stress, secondo i contenuti dell’Accordo Europeo dell’8 ottobre 2004. Sulla base del nuovo obbligo di legge, la Commissione Consultiva ha fornito nel novembre 2010 le indicazioni metodologiche. Il settore occupazionale prescelto per l’analisi è stato una azienda ospedaliera di una provincia siciliana ai cui lavoratori, distinti per partizioni organizzative e mansioni omogenee, è stato somministrato il Questionario Indicatore modello ISPESL-HSE. Dal presente studio è emersa una percentuale di rischio alta per tutti i reparti afferenti al Dipartimento di Emergenza e per l’U.O.C. di Ortopedia e Traumatologia, media per i restanti dipartimenti. Le prime applicazioni pratiche delle suddette indicazioni hanno evidenziato diverse criticità per quanto attiene l’individuazione e soprattutto la realizzazione dei correttivi

Conosci realmente le MST? Risultati di una survey sulle malattie sessualmente trasmesse condotta tra gli studenti della Facoltà di Medicina e Chirurgia dell’Università degli Studi di Palermo.

Introduzione Secondo l’Organizzazione Mondiale della Sanità l’incidenza annuale delle malattie sessualmente trasmesse (MST) è di circa 448 milioni di nuovi casi nel mondo nei soggetti di età compresa tra i 15 ed i 49 anni. A tal proposito la Scuola di Specializzazione in Igiene e Medicina Preventiva dell'Università degli Studi di Palermo ha condotto un'indagine per valutare le conoscenze degli studenti dei 6 anni del Corso di Laurea in Medicina e Chirurgia dell'Università degli Studi di Palermo in quanto, proprio per la loro specifica formazione, saranno coinvolti in prima persona nel counselling delle popolazioni a rischio di contrarre le MST. Materiali e Metodi Lo studio si è basato sulla somministrazione di un questionario anonimo svolto durante l’orario delle lezioni. La somministrazione è stata preceduta da una breve descrizione dello studio e delle sue finalità. Il questionario è costituito da 5 sezioni principali: dati demografici, abitudini sessuali, metodi contraccettivi, conoscenze sulle MST, informazione ed educazione sessuale. I dati sono stati caricati su un file Excel 5.0.Le analisi statistiche sono state condotte con il software Epi Info v3.5.1. Sono stati considerati significativi valori di p-value <0,05. Risultati Sono stati compilati 624 questionari di cui 421 da studenti dei primi tre anni e 203 dagli studenti degli ultimi tre anni di corso (adesione media 39,8%). L’età media del primo rapporto sessuale degli studenti del primo triennio è di 16,9 anni, quella degli studenti del secondo triennio è di 17,9 anni. L’HPV non è considerata una patologia a trasmissione sessuale dal 46,6% degli studenti al primo triennio di corso(12,3% nel secondo triennio).Tale discrepanza emerge anche per l’epatite B e C (64,1% vs 30,5%) e per la Clamydia (52,7% vs 24.6%). Inoltre, il 49,6% degli studenti al primo triennio non conosce lo screening per il carcinoma cervicouterino e il 33,5% l’esistenza del vaccino anti-HPV. Anche in questo caso tali lacune si riducono al 10% negli studenti più anziani. In particolare, le principali fonti di informazione sulle MST risultano la scuola media (33,2%), la scuola superiore (27,5%) e i familiari (8%) tra gli under 21 e la scuola superiore (29%), la scuola media (25%) e l’Università(19%) tra gli over 22 (p<0,001). Discussione e Conclusioni Dallo studio emerge come gli intervistati abbiano carenti conoscenze sulle MST, in particolare sulla Clamydia e sull’HPV, sebbene queste vengano implementate durante il corso degli studi. Sarebbe tuttavia opportuno predisporre nuove modalità di apprendimento a partire dai primi anni del Corso di Laurea in Medicina su tematiche mediche di attualità e nelle quali i futuri medici possono rappresentare nei confronti dei coetanei degli “opinion leader” e orientare le scelte degli stessi (MST, alcool, fumo…)

Parents' Perspective of Antibiotic Usage in Children: A Nationwide Survey in Italy

Background: Antibiotics represent the most widely prescribed drugs in children worldwide, both in hospital and community settings. A comprehensive approach to understanding the reasons and determinants of antibiotic prescription in the pediatric age is needed. This study aimed to assess parents' attitudes and perspectives about antibiotic use. Methods: Prospective observational study was conducted in all Italian Regions between February 1 and April 30, 2020, using a standardized questionnaire. Results: Six thousand six hundred twenty-five parents from all Italian regions completed the survey. Seventy-six percent of parents were aware that only bacteria are the target of antibiotics, but 92.9% knew that the antibiotic has no direct effect on fever. Antibiotic self-prescription (10.4%) or by remote consultation by phone call (19.9%) or message (9.6%) were relatively common. Ninety-three percent of parents were aware that excessive use of antibiotics could select resistant bacteria and 84.7% of them knew that they could actively fight antibiotic resistance. About two thirds of participants (66.1%) received information on antibiotic resistance from their family pediatrician. Parents born of Italy or those with lower income had a higher probability of having less information from pediatricians or knowledge of proper antibiotic use. Discussion: Our study suggests that parents' knowledge and attitudes toward antibiotic use and prescription are improving compared with previous studies, while there is still a gap regarding antibiotic resistance, particularly on practices that can reduce its burden. Our study's negative finding is that families from low-income settings or those born abroad have significantly more misconceptions about important antibiotic practices

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease METHODS: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. RESULTS: In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. CONCLUSIONS: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. Results: 128 patients (mean age 56.3 \ub1 12.4\ua0years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of\ua0these factors together with familial history for stroke result in a higher positive predictive value and specificity. Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield