All osteochondrodysplasias are not detected by ultrasound screening of the second quarter. For all do not occur during fetal life. Only sixty translations have early ultrasound.
It is advisable that couples with the notion of serious illness or disabling their families, receive genetic counseling to know the risk of transmitting the disease and diagnostic possibilities by investigating the genetic defect by removal of trophoblast , amniocentesis or fetal blood puncture.
On February 19, 2010, players of the platform Rare Diseases recalled that government intervention should always be accrue1. This must be a real challenge for the French second-Rare Diseases under development. Nicolas Levy, Director of the GIS-Rare Diseases Institute, researcher and clinician at INSERM in Marseille, however, said he “remains optimistic about our ability, our researchers to address more and more sick. But there is many challenges that require significant resources include three main areas: the pathophysiology of rare diseases, the pre-clinical animal models or cellular, and clinical trials. It is necessary that the second inter-ministerial plan to Rare Diseases meet these challenges. “
The high burden of care which currently offers osteoporosis, with over 200 million sufferers worldwide, about 2 million in Spain, “after the high functional impact fractures, since 50% of patients lose their independence, and increased average life expectancy of the population, which has led to an expansion of the geriatric population, a sector where osteoporosis is primed, clearly indicate that this is going to be rheumatic disease throughout this century one of the diseases with the highest relevance.
Moreover, this life expectancy is increasing in developing countries, so that osteoporosis, a disease important only in developed countries, will become a global epidemic. Osteoporosis causes 1.6 million hip fractures worldwide each year, 40,000 of which occur in our country, and this was also associated with a significant increase in mortality.
In particular, there is an increased relative risk of death by 86%. That is, if older than 65 years, the risk of dying within 5 years is 20%, a person with hip fracture have a 86% increased risk, equivalent to approximately 37% will die.
Given the importance of this condition and the need for advanced knowledge as possible by specialists to reduce these figures just presented the second edition of ‘Bone Diseases Manual’ of the Spanish Society of Rheumatology . The work was coordinated by Dr. Luis Pérez Edo, Rheumatology Service, Hospital del Mar in Barcelona, and Dr. Luis Arboleya, Rheumatology Service, Hospital San Agustin, Avilés. (more…)
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