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  • The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study 

    Bethell, George S.; Long, Anna-May; Knight, Marian; Hall, Nigel J.; Jones, Abigail; Aslam, Adil; Mortell, Alan et al. (Springer Berlin Heidelberg, 2020-02-29)
    Abstract: Purpose: Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down’s syndrome, in around a third of infants. The aim of this study was to explore the impact of T21 on the epidemiology, ...
  • Treatment of Severe Emotionally Unstable Personality Disorder with Comorbid Ehlers-Danlos Syndrome and Functional Neurological Disorder in an Inpatient Setting: A Case for Specialist Units without Restrictive Interventions 

    Henry, Jessica; Collins, Eddie; Griffin, Amanda; Zimbron, Jorge (2021-02-25)
    We present the case of a young woman with an Emotionally Unstable Personality Disorder (EUPD) diagnosis suffering from high-risk self-injurious behaviour. She was also diagnosed with Ehlers-Danlos Syndrome and Functional ...
  • Isolation and Functional Determination of SKOR Potassium Channel in Purple Osier Willow, Salix purpurea 

    Chen, Yahui; Peng, Xuefeng; Cui, Jijie; Zhang, Hongxia; Jiang, Jiang; Song, Zhizhong (2021-02-25)
    Potassium (K+) plays key roles in plant growth and development. However, molecular mechanism studies of K+ nutrition in forest plants are largely rare. In plants, SKOR gene encodes for the outward rectifying Shaker-type ...
  • Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome 

    Forde, Karina; Resta, Nicoletta; Ranieri, Carlotta; Rea, David; Kubassova, Olga; Hinton, Mark; Andrews, Katrina A. et al. (BioMed Central, 2021-02-27)
    Abstract: Background: PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant ...

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