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Copy number variants of the X‐chromosome are a common cause of X‐linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X‐linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low‐copy repeats (LCRs) designated “K” and “L” were reported with intellectual disability and epilepsy. Duplication of a second more distal region has been described as the cause of the Int22h‐1/Int22h‐2 Mediated Xq28 Duplication Syndrome, characterized by intellectual disability, psychiatric problems, and recurrent infections. We report two additional families possessing the K/L‐mediated Xq28 duplication with affected males having intellectual disability and epilepsy similar to the previously reported phenotype. To our knowledge, this is the second cohort of individuals to be reported with this duplication and therefore supports K/L‐mediated Xq28 duplications as a distinct syndrome.
Abstract The single radial immunodiffusion assay has been the accepted method for determining the potency of inactivated influenza vaccines since 1978. The world‐wide adoption of this assay for vaccine standardisation was facilitated through collaborative studies that demonstrated a high ... more
Abstract Background Whether morbidity from the 1918‐19 influenza pandemic discriminated by socioeconomic status has remained a subject of debate for 100 years. In lack of data to study this issue recent literature have hypothesized that morbidity was “socially neutral”. Objectives ... more
Smart skin that can respond to external stimuli could have important applications in medicine and robotics. Using only items found in a typical household, researchers have created multi-sensor artificial skin that's capable of sensing pressure, temperature, humidity, proximity, pH, and air ... more
Some doctors may recommend that patients with the flu take acetaminophen, or paracetemol, to relieve their symptoms; however, a new randomized clinical trial found no benefits to the over-the-counter medication in terms of fighting the influenza virus or reducing patients' temperature or ot ... more
A new study that investigated the potential of certain psychological traits for predisposing heterosexuals to have negative attitudes towards homosexual people found that psychoticism - which is present in severe psychopathological conditions but may also contribute to less severe states of ... more