12 research outputs found
Potential Benefits of Non-Pharmacological Therapies in Fibromyalgia
Fibromyalgia (FM) is an incurable common syndrome of non-articular origin, and with no effective treatment by now. A great deal of research has sought to assess the efficacy of different therapies, especially non-pharmacological and low-cost ones, in the reduction of the intensity of symptoms. Despite the availability of a wide range of alternative therapies nowadays, there is little scientific evidence of the potential benefits of most of them, with results being contradictories. The purpose of this paper is to review some of the less well known alternative therapies in FM treatment, to describe the more relevant clinical studies published in this matter, and to analyze the potential effects of the main alternative therapies, in order to verify their efficacy
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4â/â mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases
A Computational Study (TDDFT and RICC2) of the Electronic Spectra of Pyranoanthocyanins in the Gas Phase and Solution
Recent advances of marine ornamental fish larviculture: broodstock reproduction, live prey and feeding regimes, and comparison between demersal and pelagic spawners
Marine ornamental fish are a key component of the multimillionâdollar marine aquarium trade industry, a controversial industry due to current heavy reliance on wildâcollected specimens. Aquaculture of marine ornamental fish is considered as a sustainable alternative, but it is still in the early stage of development. This review focuses on the current state of marine ornamental fish aquaculture, by covering topics on reef fish reproductive biology in captivity, traditional and novel live feeds, feeding regimes and visual environment in larviculture. Where possible, major differences between demersal and pelagic spawners are compared and discussed. Overall, for many ornamental fish species, natural spawning can be achieved in a captive environment without the use of hormone induction; however, sex identification and successful pairing for reef fish species could be a challenge. With the use of both traditional (rotifers and Artemia) and novel live feeds (e.g. marine copepods and ciliates), a range of breakthroughs in larval rearing of both demersal and pelagic spawning ornamental fish species have been achieved in recent years, although larval survival varies. To further improve the larval rearing success of marine ornamental fish, this review suggests that future research should focus on optimizing the use of live feed in terms of both quality and quantity, and establishment of wellâdefined speciesâspecific larval feeding regime, as well as providing appropriate rearing condition through improved manipulation of light conditions and the 'greenwater' techniques in larval rearing