Traumatic brain injury: integrated approaches to improve prevention, clinical care, and researchA concerted effort to tackle the global health problem posed by traumatic brain injury (TBI) is long overdue. TBI is a public health challenge of vast, but insufficiently recognised, proportions. Worldwide, more than 50 million people have a TBI each year, and it is estimated that about half the world's population will have one or more TBIs over their lifetime. TBI is the leading cause of mortality in young adults and a major cause of death and disability across all ages in all countries, with a disproportionate burden of disability and death occurring in low-income and middle-income countries (LMICs). It has been estimated that TBI costs the global economy approximately $US400 billion annually. Deficiencies in prevention, care, and research urgently need to be addressed to reduce the huge burden and societal costs of TBI. This Commission highlights priorities and provides expert recommendations for all stakeholders—policy makers, funders, health-care professionals, researchers, and patient representatives—on clinical and research strategies to reduce this growing public health problem and improve the lives of people with TBI.
Noonan syndromeNoonan Syndrome: Clinical Features, Diagnosis, and Management GuidelinesNoonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.
Noonan syndrome.Judith Allanson|Journal of Medical Genetics|1987 Noonan syndrome was first described over 20 years ago by Noonan and Ehmkel; they defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism, and unusual facies. In retrospect, the first case was probably described by Kobylinski in 1883.2 Since that time, over 300 cases have been reported in medical publications. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births.3 The cardinal features of Noonan syndrome are short stature, congenital heart defect, broad or webbed neck, a peculiar chest deformity with pectus carinatum superiorly and pectus excava- tum inferiorly, and characteristic facies, which alter predictably with age to produce a discrete but changing phenotype which is described and illus- trated below. Good reviews of Noonan syndrome are to be found by Mendez and Opitz,4 Nora et al,5 Char et al,6 and Pearl.7
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis