1,721,013 research outputs found
Decision models in the evaluation of psychotropic drugs. Useful tool or useless toy?
No full textA current contribution in the European Journal of Health Economics employs a decision model to compare health care costs of olanzapine and risperidone treatment for schizophrenia. The model suggests that a treatment strategy of first-line olanzapine is cost-saving over a 1-year period, with additional clinical benefits in the form of avoided relapses in the long-term. From a clinical perspective this finding is indubitably relevant, but can physicians and policy makers believe it? The study is presented in a balanced way, assumptions are based on data extracted from clinical trials published in major psychiatric journals, and the theoretical underpinnings of the model are reasonable. Despite these positive aspects, we believe that the methodology used in this study-the decision model approach-is an unsuitable and potentially misleading tool for evaluating psychotropic drugs. In this commentary, taking the olanzapine vs. risperidone model as an example, arguments are provided to support this statement. © 2006 Springer Medizin Verlag
Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist
Full text linkAutism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology
Head-to-head economic comparisons between atypical antipsychotics: are there any relevant differences? A systematic review
No full textUnraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes
No full textKabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%-75% and 3%-8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are often referred to as affected by Kabuki-like syndrome. Overall, they represent approximately 30% of KS cases, pointing toward substantial genetic heterogeneity for this condition. Here, we review all currently available literature describing KS-like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A . We also report on a new KS phenocopy harboring a 5 Mb de novo deletion in chr10p11.22-11.21. An enrichment analysis aimed at identifying functional Gene Ontology classes shared by the 2 known KS causative genes and by new candidate genes currently associated with KS-like phenotypes primarily converges upon abnormal chromatin remodeling and transcriptional dysregulation as pivotal to the pathophysiology of KS phenotypic hallmarks. The identification of mutations in genes belonging to the same functional pathways of KMT2D and KDM6A can help design molecular screenings targeted to KS-like phenotypes
Measurement of arylesterase enzymatic activity and assessment of genetic polymorphisms located in the PON1 gene as a diagnostic tool in autism-spectrum disorders
No full textThe present invention concerns a method for detecting the presence of or predisposition to autism, an autism spectrum disorder, or an autism-associated disorder in a subject, the method comprising measuring an arylesterase enzymatic activity in a sample from the subject, optionally combined with the determination of alleles of PON1 polymorphisms
CNS drugs approved by the centralised European procedure: true innovation or dangerous stagnation?
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Effect of antipsychotic drugs on cerebrovascular morbidity and mortality: a systematic review
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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