Journal of the neurological sciences
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Cerebrovascular reactivity (CVR) is defined as the change in cerebral blood flow, or blood velocity, in response to a vasoactive stimulus. There is a possible association between impaired CVR and vasospasm after aneurysmal subarachnoid hemorrhage. Most studies on CVR and vasospasm have used healthy subjects as reference. However, due to potential different vascular features, CVR in persons with intracranial aneurysms may differ from CVR in healthy subjects. Therefore, our aim was to examine CVR in patients with unruptured intracranial aneurysms (UIA). ⋯ CVR in patients with UIA is not different from normal values reported in healthy subjects, and does not indicate a systemically impaired vascular system in patients with UIA. We suggest that CVR in age and gender matched healthy controls can be used as reference for persons with intracranial aneurysms.
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Autosomal recessive primary microcephaly (MCPH) refers to a genetically heterogeneous group of neurodevelopmental disorders in which patients exhibit a marked decrease in occipitofrontal head circumference at birth and a variable degree of intellectual disability. To date, 18 genes have been reported for MCPH worldwide. We enrolled a consanguineous family from Saudi Arabia presenting with primary microcephaly, developmental delay, short stature and intellectual disability. ⋯ Population screening of 178 ethnically matched control chromosomes and consultation of the Exome Aggregation Consortium database, containing 60,706 individuals' exomes worldwide, confirmed that this mutation was not present outside the family. To the best of our knowledge, this is the first evidence of an AGMO mutation underlying primary microcephaly and intellectual disability in humans. Our findings further expand the genetic heterogeneity of MCPH in familial cases.
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The world wide web has brought about a paradigm shift in the way medical research is published and accessed. The ease with which a new journal can be started/hosted by publishing start-ups is unprecedented. The tremendous capabilities of the world wide web and the open access revolution when combined with a highly profitable business have attracted unscrupulous fraudulent operators to the publishing industry. ⋯ The gold open access model of publishing, where the author pays the publisher, when coupled with a non-existent peer review threatens to blur the distinction between science and pseudoscience. The average researcher needs to be made more aware of this clear and present danger to the scientific community. Prevention is better than cure.