Malformazioni congenite: risultati della collaborazione tra Registro Nazionale Malattie Rare e Registri dei Difetti Congeniti

This contribution has been included in a report, based on training courses held at the Istituto Superiore di Sanit? (the Italian National Institute of Health. This report consists of two parts. The first part gives a detailed panorama on the general aspects of rare diseases, in particular: the activities of the National Centre for Rare Diseases; the Italian legislation on rare diseases; problems in health assistance related to DRGs (Diagnosis Related Groups); the national network of rare diseases as a model for the health assistance and epidemiological activities; the national register of rare diseases as an epidemiological instrument. The scope is to provide information to health professionals who are involved in epidemiological activities. The second part is oriented to clinical activity. Some of the rare diseases or groups of diseases are treated by experts in the diagnosis and treatment of patients in paediatric age. The objective is to highlight the problems of assistance from the health operator\u27s point of view. Examples are presented to understand the rationale behind the health policy and public health measures

Analisi spaziale sui dati 1992-2006 del Registro Toscano Difetti Congeniti.

not availableIntroduzione: Il registro dei difetti congeniti (DC) rappresenta uno strumento epidemiologico fondamentale per la conoscenza del fenomeno malformativo e per l\u27identificazione delle fluttuazioni temporali e spaziali a fini di sorveglianza. Nonostante l\u27eziologia risulti prevalentemente multifattoriale, alcuni DC risultano associati, sulla base della letteratura esistente, a differenze socio-economiche o a fattori di rischio ambientali. Obiettivi: approfondire la distribuzione spaziale del tasso di DC sul territorio toscano e identificare eventuali aggregati comunali con eccessi significativi di DC. Metodi: L\u27analisi ? stata effettuata sui dati del Registro Toscano Difetti Congeniti relativi ai casi individuati nel periodo 1992-2006 tra i nati e le interruzioni di gravidanza a seguito di diagnosi prenatale di DC (IVG), su un totale di 418.573 nati residenti sorvegliati in 287 comuni toscani. Sulla base della probabile associazione a fattori di rischio ambientali o a svantaggi socio-economici sono stati selezionati i seguenti gruppi di DC: sistema nervoso, cardiopatie congenite, schisi orofacciali, genitali, urinario, arti, muscoloscheletrico, anomalie cromosomiche. I denominatori utilizzati sono stati ricavati da fonte Regione Toscana. L\u27analisi di clustering per identificare aggregati comunali ? stata effettuata mediante la tecnica Spatial Scan Statistic di Kulldorff. Per ogni gruppo di DC analizzato il metodo identifica gli aggregati comunali con SMR statisticamente significativi con p<0,05 (comprendenti fino ad un massimo del 5% dei nati) in base al test di likelihood ratio (LRT). La morbosit? attesa ? calcolata utilizzando come riferimento il tasso regionale del gruppo oggetto di studio. I cluster saranno visualizzati in mappe contenenti tutti i comuni della macroarea. Risultati: L\u27analisi di clustering ha identificato alcuni aggregati di comuni con eccessi di DC per i casi totali (nati + IVG) (tabella 1). Inoltre, tra i soli nati sono stati individuati i seguenti cluster: 7 comuni nella zona della Valle del Serchio (Lucca) con 9 casi osservati e SMR=513 per il gruppo "anomalie cromosomiche"; 11 comuni nella zona Empolese-Alta Val d\u27Elsa-Alta Val di Cecina (Pisa, Firenze, Siena) con 58 casi osservati e SMR=172 per il gruppo "cardiopatie congenite"; 23 comuni nella zona Aretina, Val d\u27Arno, Val di Chiana, Senese (Arezzo, Siena) con 33 casi osservati e SMR=266 per il gruppo "sistema nervoso"; un comune in provincia di Pisa (Calcinaia) con 6 casi osservati e SMR=773 per il gruppo "sistema nervoso". Conclusioni: I risultati ad oggi disponibili in tema di inquinamento ambientale e DC, seppure non conclusivi, appaiono caratterizzati da alcuni eccessi di rischio di debole entit? per le popolazioni residenti in aree con criticit? ambientali. Questo studio geografico descrittivo non ha fornito risultati su associazioni di tipo causale, in considerazione dei limiti dello studio. La disponibilit? di un sistema di sorveglianza su base comunale ha consentito di valutare eterogeneit? spaziali e individuare la localizzazione di eventuali addensamenti inusuali di DC (cluster), in particolare in aree toscane con presenza di criticit? ambientali. In questo senso i risultati conseguiti nelle aree di Val di Cornia, Val di Cecina, Livorno, Prato, tutte includenti aree a rischio ambientale, sono evocative di possibili approfondimenti. Alcuni degli scostamenti individuati dalle analisi possono anche essere dipendenti da un effetto di sotto o sovranotifica dei DC. I risultati emersi forniscono indicazioni per approfondimenti tramite studi microgeografici che utilizzano matrici ambientali e tramite studi caso-controllo che utilizzano dati individuali (biomarcatori ambientali, storia residenziale e confondenti)

Il Registro Toscano delle Malattie Rare

In meno di 10 anni l\u27attenzione per le malattie rare (MR) ha registrato una crescita cos? rapida da costituire un intervento prioritario tra le iniziative di sanit? pubblica. Fin dal 2001 il progetto regionale sulle MR si ? sviluppato in Toscana con la costante e significativa collaborazione delleAssociazioni dei malati, raccolte in un Forum. Si ? costituita una rete regionale di Presidi dedicati alla diagnosi e cura di queste patologie e delle strutture di coordinamento. Al fine di garantire la qualit? dei servizi prestati e l\u27informazione sui servizi erogati la Regione Toscana ha rinnovato il suo impegno sulle MR nel Piano Sanitario Regionale 2008-2010.In meno di 10 anni l\u27attenzione per le malattie rare (MR) ha registrato una crescita cos? rapida da costituire un intervento prioritario tra le iniziative di sanit? pubblica. Fin dal 2001 il progetto regionale sulle MR si ? sviluppato in Toscana con la costante e significativa collaborazione delleAssociazioni dei malati, raccolte in un Forum. Si ? costituita una rete regionale di Presidi dedicati alla diagnosi e cura di queste patologie e delle strutture di coordinamento. Al fine di garantire la qualit? dei servizi prestati e l\u27informazione sui servizi erogati la Regione Toscana ha rinnovato il suo impegno sulle MR nel Piano Sanitario Regionale 2008-2010

Registro Nazionale Malattie Rare: malformazioni congenite e acido folico

It is estimated that in Italy at least 3% of babies are born with some congenital malformation. Scientific evidence demonstrates that the intake of folic acid by a woman prior the conception and during the early stages of pregnancy plays a role in preventing neural tube defects and severe birth anomalies due to the lack of neural tube closure at either the upper or lower end during the third and fourth week of pregnancy. The intake of folic acid during the periconception period can reduce the risk of other neonatal malformations such as congenital heart defects, urinary tract anomalies, oral facial clefts, limb defects. The Italian Network for Folic Acid Promotion, established in 2004 and coordinated by the National Centre for Rare Diseases of the Istituto Suepriore di Sanit? has elaborated and diffused a recommendation for the periconceptional supplementation of folic acid. This article provides an overview of the available scientific evidence on the effect of folic acid in the prevention of congenital malformations and possible public health strategies.Si stima che nel nostro Paese circa il 3% dei nati siano affetti da malformazioni congenite: L\u27assunzione di acido folico prima del concepimento e nelle prime fasi della gravidanza ha un effetto preventivo riguardo ai difetti del tubo neurale, severe anomalie congenite determinate dalla mancata chiusura del tubo neurale che si completa nella terza-quarta settimana dal concepimento, e di altre malformazioni quali difetti cardiaci congeniti, anomalie congenite del tratto urinario, labio-palatoschisi, difetti in riduzione degli arti.Il Network Italiano Promozione Acido Folico, costituitosi nel 2004 e al cui coordinamento collabora il Centro Nazionale Malattie Rare dell\u27Istituto Superiore di Sanit?, ha elaborato e diffuso una raccomandazione per la supplementazione peri-concezionale di acido folico. Questo lavoro fornisce una revisione delle evidenze scientifiche disponibili in letteratura sull\u27efficacia dell\u27acido folico nella prevenzione di difetti congeniti e possibili strategie di sanit? pubblica

Case-Control Study on Congenital Malformation Risk in the Petrochemical Area of Gela (Sicily-Italy)

Objective: A study on congenital malformations (CMs) prevalence in newborns residing in the Gela municipality over 1991 to 2002 showed statistically significant excesses of total CMs, spina bifida, microcephaly, heart defects, hypospadias, if compared with the Italian EUROCAT registries (Bianchi, 2006). Many environmental and occupational risk factors reported as potentially associated with CMs have been documented in Gela and other similar industrial areas. Among toxic substances documented in the Gela site several are known as teratogenic and mutagenic (heavy metals, chloro- and organophosphates solvents, PCBs, aromatic polycyclic hydrocarbons), some of which are documented or suspected to be endocrine disruptors. A case-control study was carried out to evaluate whether among malformed subjects there was risk excess due to environmental, occupational, or lifestyle exposures, particularly eating habits. Material and Methods: Among 91 cases with malformations found in excess, 77 were selected by specialty medical visits; 91 matched controls were included. The questionnaire included information on pregnancy, parents\u27 work (particularly in the industrial plants) before and during pregnancy, parents\u27 eating habits, purchase place (shop, street vendor, growing own food plants/fishing). Statistical analyses were performed for all CMs and for hypospadias only. Results: Significant risk associations resulted for consumers of fish, fruit, and vegetables if purchased at street vendors or for fishing and growing own food plants (OR from 6.0 to 51.3). Conclusions: Results on food consumption suggest a possible reproductive risk for fish, fruit, or vegetables purchased at street vendors or for fishing or growing own food plants potentially locally contaminated either by men (eg, pesticides) or by substances released in the environment. Notwithstanding the impossibility of making a distinction between effects of the 2 potential contamination sources and the possible bias and misclassification problems typical of retrospective studies, results obtained still represent major concern on food chain and on possible effects on reproductive health

Manuale utente - Screening audiologico neonatale (SCRAUN)

not availableLo scopo di questo documento-manuale utente ? di descrivere ad un utente come utilizzare via Internet il Sistema per il Screening Audiologico Neonatale (SCRAUN). Il sistema SCRAUN ? un sistema accessibile via web e costituisce l\u27implementazione della procedura di Screening descritta nel documento "ProgettoScreening.doc" scaricabile dal sito stesso. Il sistema SCRAUN sar? utilizzato da un insieme di utenti autorizzati, facenti parte della rete di neonatologi e di specialisti in otorinolaringoiatria e audiologia del Servizio Sanitario della Toscana, per registrare le nascite e gli esami di screening effettuati e per rilevare eventuali diagnosi di ipoacusia

Amyotrophic Lateral Sclerosis: results from Tuscany Registry of Rare Diseases.

Amyotrophic Lateral Sclerosis: results from Tuscany Registry of Rare Diseases. Anna Pierini, Federica Pieroni, Fabrizio Minichilli, Michela Rial and Fabrizio Bianchi Unit of Environmental Epidemiology, Institute of Clinical Physiology-CNR, Pisa Introduction: Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease with an incidence in Europe of approximately 2 per 100,000 per year. As the average disease duration from clinical onset is 3 years, prevalence is estimated at 6 per 100,000. In 90-95% of cases ALS occurs sporadically while 5-10% of cases are familiar. The specific cause of sporadic ALS is unknown while it has been hypothesized that some interactions can occur between genetic, environmental, and age-dependent risk factors. The Tuscany Registry of Rare Diseases (TRRD) was set up in 2005 and involves in data collection all public health centers in Tuscany. The Institute of Clinical Physiology-National Research Council (IFC-CNR) manages the TRRD which is part of the National Network for Rare Diseases leaded by Italian Health Institute. Objectives: To produce knowledge on ALS epidemiology: prevalence/incidence/survival, in Tuscany region. Methods: Age-standardized prevalence and incidence were calculated. Survival analysis was carried out by Kaplan-Meier method. Analysis was performed by Stata v.10. Results: In the period 2005-2009, it comes out in the TRDD are included 282 new patients with definite ALS, 234 of whom resident in Tuscany (122 men-112 women). The standardized average annual incidence in the study period (153 patients, age 20-99) is 0.81/100,000, the highest is 1.15/100,000 in 2006; the highest average incidence rate (2.41/100,000) is amongst patients aged 60-79. On 31 December 2009 (mortality data updated to 2008), the standardized prevalence was 5.36/100,000 (the highest registered is 5.87/100,000 in 2007). Survival rates at 1, 2, 3, 4 and 5 years after the onset were 86%, 70%, 58%, 48% and 44%, respectively. Conclusions: The results of the present study indicate that the incidence and prevalence of ALS in the Tuscany population seems to be lower compared to other populations and the survival of patients was longer than previously reported

Rare diseases and congenital malformations integrated registry in Tuscany-Italy

Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment. To obtain epidemiological information the Italian Network of RD was set up in 2001. The Network is formed by Presidia specifically identified by each Region for diagnosis/treatment and by regional and national Registries. Among the 583 RDs eligible for free healthcare treatment, congenital malformation (CM) is the most frequent group with 254 diseases. Analysis of data and information available from both registries is therefore crucial to improve knowledge on the actual size of the CMs phenomenon also by activating an integrated system of registration. Methods: Linkage analysis was performed on data of the Tuscany Registries of CMs (RTDC) and of RDs (RTMR) for cases observed from 1992 to 2006 over approximately 420,000 surveilled resident births. Five specific rare CMs were selected: microcephaly, acrocephalosyndactyly, lissencephaly, oesophageal atresia, Down syndrome. Variables used for linkage were CM, names, date of birth, and residence. Results: Undernotification of rare CM cases more difficult to diagnose at birth like the lissencephaly was observed in the RTDC compared to the RTMR, while overlapping of record of cases emerged for other anomalies such as the Down syndrome. Linkage has allowed in some cases to better specify the diagnosis and to provide missing information. Conclusions: Use of different information sources has enabled to reduce undernotification of cases and to mutually validate information

Registro nazionale malattie rare. Epidemiologia di 44 malformazioni congenite rare in Italia

The main purpose of this report is to provide health operators and the scientific community with information about the epidemiology of some Rare Congenital Malformations (RCMs). Statistical analysis was carried out on data of selected RCMs, detected both among births and induced abortions following prenatal malformation diagnosis. Data were collected by Birth Defects Registries according to homogeneous approaches, in order to produce valid estimates of prevalence rates

Serum Total Thyroxine Evaluation in Critically Ill Feline Patients

This retrospective case control study compared serum total thyroxine (tT4) concentrations in hospitalized critical cats (CCs) and non-hospitalized cats with non-thyroidal chronic diseases (chronic group, CG) and evaluated the relationship between the serum tT4 concentration of CCs and systemic inflammation (systemic inflammatory response syndrome (SIRS)), disease severity (Acute Patient Physiologic and Laboratory Evaluation (APPLEfast)), and prognosis. Cats with previously suspected or diagnosed thyroid disease were excluded. Serum tT4 was evaluated in surplus serum samples at the time of admission for CCs and CGs. The APPLEfast score of the CC group was calculated at admission. The systemic inflammatory response syndrome (SIRS) in CCs was determined using proposed criteria. Cats were divided into survivors and non-survivors according to the discharge outcome. Forty-nine cats were retrospectively included. Twenty-seven cats died during hospitalization. The CG group was composed of 37 cats. The CC group showed a significantly lower tT4 compared to the CG group (1.3 ± 0.7 vs. 2 ± 0.9; p &lt; 0.0001). Among SIRS, APPLEfast, and tT4, only tT4 was associated with mortality (p = 0.04). The tT4 cut-off point for mortality was 1.65 mug/dL (sensitivity 81%, specificity 57%, odds ratio (OR) 5.6). Twenty-five cats (51%) had SIRS that was not associated with tT4. Non-thyroidal illness syndrome can occur in critically ill cats and the evaluation of tT4 in hospitalized cats could add prognostic information