Clara Sanders

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OBJECTIVE To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1 METHODS: We present a case series of nine ADA2-deficient patients with an identical homozygous R169Q mutation. Clinical and diagnostic data were collected and available MRI studies were(More)
The conditioned eyeblink (EB) response was studied with trace conditioning procedures in rabbits (Oryctolagus cuniculus) with lesions to the medial prefrontal cortex (mPFC) or sham lesions. Three experiments were performed in which either periorbital shock or a corneal airpuff served as the unconditioned stimulus (US) in separate groups of sham or(More)
OBJECTIVE To determine the nature and surgical management of ovarian cysts. DESIGN Retrospective case-note study. SETTING Large Childrens' Hospital: Alder Hey NHS Foundation Trust. SAMPLE Children undergoing surgery for ovarian cysts between 1991 and 2007. METHODS Cases identified using coding and the pathology database, and analysed using snap 9.(More)
Previous research has implicated the medial prefrontal cortex (mPFC) in the control of classically conditioned autonomic and somatomotor responses. In eyeblink (EB) classical conditioning prefrontal involvement appears to be limited to paradigms that are more difficult to learn, in that acquisition is slower. These include trace conditioning and(More)
Obesity and other metabolic variables are associated with abnormal brain structural volumes and cognitive dysfunction in HIV-uninfected populations. Since individuals with HIV infection on combined antiretroviral therapy (CART) often have systemic metabolic abnormalities and changes in brain morphology and function, we examined associations among brain(More)
We describe a 38-year-old male with abrupt onset of left hip pain. The diagnosis of transient osteoporosis of the hip was made on the basis of the clinical history and characteristic radiographic changes (osteopenia with indistinctness of the subchondral cortex). Magnetic resonance imaging demonstrated diffuse decreased signal in the proximal femur without(More)
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