Neurología : publicación oficial de la Sociedad Española de Neurología
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Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. ⋯ Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.
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In-hospital consultations (IHC) are essential in clinical practice in tertiary hospitals. The aim of this study is to analyse the impact of neurological IHCs. ⋯ IHCs facilitate diagnosis and management of patients with neurological diseases, which may help reduce the number of visits to the emergency department. On-call neurologists are essential in tertiary hospitals, and they are frequently asked to diagnose brain death.
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Review Meta Analysis
Efficacy of manual therapy in the treatment of tension-type headache. A systematic review from 2000-2013.
To study the efficacy of manual therapy in the treatment of tension-type headache (TTH) by assessing the quality of randomized control trials (RCTs) published from the year 2000 to April 2013. ⋯ The effectiveness of manual therapy for TTH cannot be completely assessed due to the heterogeneity in study design, outcome measures, and different treatments. Nevertheless, the results suggest patients with TTH receiving manual therapies showed better progress than those receiving conventional treatment or placebo. Further studies of high quality using manual therapy protocols, and also including standardized outcome measures, are now needed to clarify the efficacy of manual therapy in the management of TTH.
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In recent decades, mortality rates for cerebrovascular diseases (CVD) have declined significantly in many countries. This study analyses changes in CVD mortality rates in Spain (1980-2011) to determine if previously observed trends remain. ⋯ CVD mortality rates displayed a marked and continuous decline in Spain between 1980 and 2011. Due to the ageing of the population, doctors expect an increase in CVD prevalence and therefore its magnitude in terms of disability and healthcare costs, which poses a challenge to our health system.