Entity

Time filter

Source Type


Taruscio D.,National Center for Rare Diseases | Gainotti S.,National Center for Rare Diseases | Mollo E.,National Center for Rare Diseases | Vittozzi L.,National Center for Rare Diseases | And 4 more authors.
Public Health Genomics | Year: 2013

Background: Registries are considered key instruments for developing rare disease (RD) clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, it is usually the case that no single institution, and in many cases no single country, has sufficient data to provide results that can be applied broadly to clinical and translational research. However, the fragmentation and heterogeneity of the registries, which are often the result of spontaneous initiatives, limit the general applicability of their observations. Methods: An inquiry has been carried out by the EPIRARE, a European Union (EU)-funded project ('Building Consensus and Synergies for the EU Registration of Rare Disease Patients') aiming at paving the way to the creation of a European Platform for RD Registries, by means of an on-line questionnaire among European RD registries on their main activities and needs, the way they deal with methodological, technical and regulatory issues and the way they find resources to carry on their activities. Results: In spite of the heterogeneity of the European registries, some elements of relevance for an action to improve the situation of patient registries in the EU are apparent. The needs more frequently indicated by registry holders were financial support, motivation of data providers, data quality assessment, improvement of communication and visibility, and extension of collaborations. Moreover, the registry holders were in favor of a common EU platform providing services for RD registries. Conclusion: It appears that the current situation of the European registries provides the transition towards a more uniform, higher quality and better coordinated approach. © 2013 S. Karger AG, Basel.


Garcia-Perez J.,Carlos III Institute of Health | Garcia-Perez J.,CIBER ISCIII | Lopez-Abente G.,Carlos III Institute of Health | Lopez-Abente G.,CIBER ISCIII | And 10 more authors.
Environmental Research | Year: 2015

Background: Few risk factors for the childhood leukemia are well established. While a small fraction of cases of childhood leukemia might be partially attributable to some diseases or ionizing radiation exposure, the role of industrial and urban pollution also needs to be assessed. Objectives: To ascertain the possible effect of residential proximity to both industrial and urban areas on childhood leukemia, taking into account industrial groups and toxic substances released. Methods: We conducted a population-based case-control study of childhood leukemia in Spain, covering 638 incident cases gathered from the Spanish Registry of Childhood Tumors and for those Autonomous Regions with 100% coverage (period 1990-2011), and 13,188 controls, individually matched by year of birth, sex, and autonomous region of residence. Distances were computed from the respective subject's residences to the 1068 industries and the 157 urban areas with ≥10,000 inhabitants, located in the study area. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (95%CIs) for categories of distance to industrial and urban pollution sources were calculated, with adjustment for matching variables. Results: Excess risk of childhood leukemia was observed for children living near (≤2.5. km) industries (OR=1.31; 95%CI=1.03-1.67) - particularly glass and mineral fibers (OR=2.42; 95%CI=1.49-3.92), surface treatment using organic solvents (OR=1.87; 95%CI=1.24-2.83), galvanization (OR=1.86; 95%CI=1.07-3.21), production and processing of metals (OR=1.69; 95%CI=1.22-2.34), and surface treatment of metals (OR=1.62; 95%CI=1.22-2.15) - , and urban areas (OR=1.36; 95%CI=1.02-1.80). Conclusions: Our study furnishes some evidence that living in the proximity of industrial and urban sites may be a risk factor for childhood leukemia. © 2015 Elsevier Inc.


Garcia-Perez J.,Carlos III Institute of Health | Garcia-Perez J.,CIBER ISCIII | Morales-Piga A.,Rare Disease Research Institute IIER | Morales-Piga A.,Consortium for Biomedical Research in Rare Diseases CIBERER | And 12 more authors.
Environmental Research | Year: 2016

Background: Few risk factors for childhood renal tumors are well established. While a small fraction of cases might be attributable to susceptibility genes and congenital anomalies, the role of environmental factors needs to be assessed. Objectives: To explore the possible association between residential proximity to environmental pollution sources (industrial and urban areas, and agricultural crops) and childhood renal cancer, taking into account industrial groups and toxic substances released. Methods: We conducted a population-based case-control study of childhood renal cancer in Spain, including 213 incident cases gathered from the Spanish Registry of Childhood Tumors (period 1996-2011), and 1278 controls individually matched by year of birth, sex, and region of residence. Distances were computed from the respective subject's residences to the 1271 industries, the 30 urban areas with ≥75,000 inhabitants, and the agricultural crops located in the study area. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (95%CIs) for categories of distance to pollution sources were calculated, with adjustment for matching variables and socioeconomic confounders. Results: Excess risk (OR; 95%CI) of childhood renal tumors was observed for children living near (≤2.5 km) industrial installations as a whole (1.97; 1.13-3.42) - particularly glass and mineral fibers (2.69; 1.19-6.08), galvanization (2.66; 1.14-6.22), hazardous waste (2.59; 1.25-5.37), ceramic (2.35; 1.06-5.21), surface treatment of metals (2.25; 1.24-4.08), organic chemical industry (2.22; 1.15-4.26), food and beverage sector (2.19; 1.18-4.07), urban and waste-water treatment plants (2.14; 1.07-4.30), and production and processing of metals (1.98; 1.03-3.82) -, and in the proximity of agricultural crops (3.16; 1.54-8.89 for children with percentage of crop surface ≥24.35% in a 1-km buffer around their residences). Conclusions: Our study provides some epidemiological evidence that living near certain industrial areas and agricultural crops may be a risk factor for childhood renal cancer. © 2016 Elsevier Inc.


Garcia-Perez J.,Carlos III Institute of Health | Garcia-Perez J.,CIBER ISCIII | Morales-Piga A.,Rare Disease Research Institute IIER | Morales-Piga A.,Consortium for Biomedical Research in Rare Diseases CIBERER | And 11 more authors.
Environment International | Year: 2016

Background: Neuroblastoma is the most common extracranial solid tumor in children but its etiology is not clearly understood. While a small fraction of cases might be attributable to genetic factors, the role of environmental pollution factors needs to be assessed. Objectives: To ascertain the effect of residential proximity to both industrial and urban areas on neuroblastoma risk, taking into account industrial groups and toxic substances released. Methods: We conducted a population-based case-control study of neuroblastoma in Spain, including 398 incident cases gathered from the Spanish Registry of Childhood Tumors (period 1996-2011), and 2388 controls individually matched by year of birth, sex, and region of residence. Distances were computed from the respective subject's residences to the 1271 industries and the 30 urban areas with ≥. 75,000 inhabitants located in the study area. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (95%CIs) for categories of distance (from 1 km to 5 km) to industrial and urban pollution sources were calculated, with adjustment for matching variables and socioeconomic confounders. Results: Excess risk (OR; 95%CI) of neuroblastoma was detected for the intersection between industrial and urban areas: (2.52; 1.20-5.30) for industrial distance of 1 km, and (1.99; 1.17-3.37) for industrial distance of 2 km. By industrial groups, excess risks were observed near 'Production of metals' (OR = 2.05; 95%CI = 1.16-3.64 at 1.5 km), 'Surface treatment of metals' (OR = 1.89; 95%CI = 1.10-3.28 at 1 km), 'Mines' (OR = 5.82; 95%CI = 1.04-32.43 at 1.5 km), 'Explosives/pyrotechnics' (OR = 4.04; 95%CI = 1.31-12.42 at 4 km), and 'Urban waste-water treatment plants' (OR = 2.14; 95%CI = 1.08-4.27 at 1.5 km). Conclusions: These findings support the need for more detailed exposure assessment of certain substances released by these industries. © 2016 Elsevier Ltd.


Morales-Piga A.,Rare Disease Research Institute Instituto Of Investigacion Of Enfermedades Raras Iier | Bachiller-Corral J.,Ramon y Cajal Hospital | Trujillo-Tiebas M.J.,Fundacion Jimenez Diaz | Trujillo-Tiebas M.J.,Consortium for Biomedical Research in Rare Diseases CIBERER | And 10 more authors.
Bone | Year: 2012

We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36×10-6). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53years; mean±SD: 30.2±13.8) are in agreement with similar reports. Twenty-one (87.5%) had characteristic congenital malformations of the big toe, and short thumbs were found in 65.2% of cases. In addition, other skeletal malformations such us fusion of the posterior elements of the cervical spine (89.0%), knee osteochondromas (71%), scoliosis (54.5%), and short and broad femoral neck (52.6%) were observed. All had developed mature ossicles of heterotopic bone in typical anatomic and temporal patterns, ranging in number from 1 to 17 (9.5±3.9). Age at appearance of first ossifying lesion varied from 3months to 15years. Mean age at diagnosis was 7.3±5.1years and the average delay in reaching the correct diagnosis after the onset of heterotopic ossification was 2.7years (range=0-12years). Biopsy of the pre-osseous lesions was performed in 11 of 20 (55.0%), providing no useful information for the diagnosis of FOP. Seven of 18 (38.9%) reported some hearing loss, and 5 (27.8%) experienced diffuse thinning of the hair or were bald. No patient had relatives with a typical FOP clinical picture. Fourteen of the 16 cases which were genetically investigated displayed the single heterozygous mutation c.617G>A in exon 4 of the ACVR1 gene. One of the two patients who did not present with the canonical ACVR1 mutation showed a heterozygous mutation c.774G>C in exon 5 leading to the substitution of Arginine 258 with a serine. The other patient had a heterozygous c.774G>T substitution in exon 5 leading to the same amino acid change (p.Arg258Ser). These two patients had only nonspecific abnormalities of the great toe, lacked the typical anatomic and developmental pattern of heterotopic ossification, and shared a trend toward uncommon clinical features. These results provide new insight on the epidemiological and clinical traits of FOP, reinforcing the notion of its worldwide homogeneity. The molecular characterization of ACVR1 sequence variation will contribute to the understanding of the genetic profile of this devastating disease in different geographical areas. © 2012 Elsevier Inc.

Discover hidden collaborations