Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these conditions are considered.

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.

Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden.

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study.

Background And Aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a higher likelihood of being diagnosed in preterm populations. Likewise, low birthweight has also been connected with an increased likelihood of ASD. The objectives were to study the frequency and define the relationship between ASD, gestational age, birthweight, and growth percentiles for preterm children.

Loss of in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.

The gene encodes alpha1-antitrypsin (AAT), an acute phase glycoprotein and serine protease inhibitor that is mainly (80-90%) produced in the liver. Point mutations in the gene can lead to the misfolding, intracellular accumulation, and deficiency of circulating AAT protein, increasing the risk of developing chronic liver diseases or chronic obstructive pulmonary disease. Currently, siRNA technology can knock down the gene and limit defective AAT production.

The case for open science: rare diseases.

The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment.

National platform for Rare Diseases Data Registry of Japan.

Introduction: In Japan, there are approximately 300 projects conducting research on rare diseases supported by the Ministry of Health, Labour and Welfare of Japan (MHLW) and the Japan Agency for Medical Research and Development (AMED). Diverse data, including clinical, genomic, and sample-related data, are generated by these projects. However, at present, such data are managed individually by each project.

Use of early intervention for young children with autism spectrum disorder across Europe.

Little is known about use of early interventions for autism spectrum disorder in Europe. Parents of children with autism spectrum disorder aged 7 years or younger (N = 1680) were recruited through parent organisations in 18 European countries and completed an online survey about the interventions their child received. There was considerable variation in use of interventions, and in some countries more than 20% of children received no intervention at all.

Comparative cost-effectiveness analysis of oral triptan therapy for migraine in four European countries.

Aim: To assess the differences in the cost-effectiveness of oral triptan therapy for migraines among European countries.

Methods: A cost-effectiveness analysis of triptan therapy for migraine was conducted from a health-care payer perspective in four European countries (France, Italy, Spain and the UK). The study included those orally administered triptans available in all of these countries (almotriptan, brand-name sumatriptan, generic sumatriptan, zolmitriptan), and it was performed using a decision-tree model that incorporated costs of the drugs and probabilities associated with the possible events and outcomes.

Epidemiology of hereditary ataxias in Spain: hospital discharge registry and population-based mortality study.

Background: Hereditary ataxias (HA) comprise a group of genetically heterogeneous rare diseases. As important public health problems to be monitored, this study analyses the morbimortality of HA in Spain.

Methods: Data were extracted from the national death index (1981-2008), using the International Classification of Diseases (ICD) 9th revision code 334 until 1998, and 10th revision code G11 from 1999 onwards.

Cost-effectiveness analysis of burning mouth syndrome therapy.

Objective: To study the cost-effectiveness of four alternative treatments for burning mouth syndrome (BMS).

Methods: A cost-effectiveness analysis was conducted from a healthcare payer perspective of four therapy strategies (amisulpride, paroxetine, sertraline and topical clonazepam), using a decision-tree model that incorporated direct healthcare costs and probabilities associated with the possible events and outcomes. Average cost-effectiveness and incremental cost-effectiveness ratios were calculated.

Public health research on rare diseases.

Despite the low prevalence of Rare Diseases (RD), over 30 million EU citizens suffer from these conditions. This paper summarizes some aspects of these life-threatening chronic and debilitating diseases that usually require long term specialist care and costly formal and informal surveillance. Epidemiology does have an important role to play in the field of RD, since it provides appropriate methods and tools for assessing exposures and health outcomes.

Increase in motor neuron disease mortality in Spain: temporal and geographical analysis (1990-2005).

The aim of this study was to assess the trend of motor neuron disease mortality in Spain from 1990 to 2005, and to ascertain the existence of geographical differences in mortality rates. MND deaths are registered by the National Statistics Institute of Spain – International Classification of Diseases (ICD) codes ICD9 335.2 (1990-1998) and ICD10 G12.

Prevention, diagnosis and services.

This chapter summarizes how prevention, diagnosis and services can result from the activities of a research programme on the group of rare diseases constituted by congenital anomalies. The Spanish Collaborative Study of Congenital Malformations (ECEMC) is a research programme based on a case-control registry of consecutive newborn infants with congenital anomalies. Its aim is the prevention of this group of rare diseases, through the research on their causes and pathogenesis, combined with the translational activity to transfer the benefits of this knowledge to the general population and health care providers.

Autism, the big unkown.

Autism is a common disorder of childhood. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Paediatricians have an important role in early recognition and evaluation of autism spectrum disorders because they usually are the first point of contact for parents.

High prevalence of cardiovascular risk in patients with toxic oil syndrome: a comparative study using the general Spanish population.

Background: The objective of this study was to compare current prevalence of major cardiovascular risk factors (CRF) between a cohort of patients affected by the toxic oil syndrome (TOS) epidemic, which occurred in Spain in 1981, and the unaffected Spanish population.

Methods: This was a case-referent study covering 1276 TOS cases and a referent population of 2843 (aged 35-65 years) using data collected from 1996 to 2003. Study variables were high blood pressure, hyperglycemia, dyslipemia, obesity, and metabolic syndrome.

Estimating the burden of disease for autism spectrum disorders in Spain in 2003.

Autism Spectrum Disorders (ASD) are lifelong neurodevelopmental disabilities. Burden of Disease is an indicator that provides important information on health status and outcomes such as premature mortality and disability. In order to estimate the burden of disease of ASD in the Spanish population during 2003, we followed the procedures used in the WHO Global Burden of Disease Study.