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Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response(More)
BACKGROUND Internal fixation of femoral fractures requires drilling holes through the cortical bone of the shaft of the femur. Intramedullary suction reduces the fat emboli produced by reaming and nailing femoral fractures but requires four suction portals to be drilled into the femoral shaft. This work investigated the effect of these additional holes on(More)
BACKGROUND/OBJECTIVES Intake of food or fluid distends the stomach and triggers mechanoreceptors and vagal afferents. Wall stretch and tension produces a feeling of fullness. Duodenal infusion studies assessing gastric sensitivity by barostat have shown that the products of fat digestion have a greater effect on the sensation of fullness and also dyspeptic(More)
AIMS Five to 10% of cases of amyotrophic lateral sclerosis are familial, with the most common genetic causes being mutations in the C9ORF72, SOD1, TARDBP and FUS genes. Mutations in the angiogenin gene, ANG, have been identified in both familial and sporadic patients in several populations within Europe and North America. The aim of this study was to(More)
We have assessed the anatomical feasibility of a transfer of the first intercostal nerve to the supra- and infraspinatus muscles and report on the first clinical application. Ten fresh cadavers were dissected for this study. Histomorphometric analysis showed the fascicular surface area of the first intercostal nerve at its origin (0.38 mm(2)) to be(More)
Sleep-disordered breathing and subjective reports of sleep-wake disturbances are both common in elderly people but previous studies investigating the relationship between the two have produced uncertain results. We hypothesized that there is no relationship between sleep-disordered breathing and subjective reports of sleep-wake disturbance. Ninety-three(More)
Optic nerve hypoplasia is an uncommon congenital defect of the optic nerve and retina, although recent studies show it occurs more frequently than previously thought. It is characterized by a small, pale optic disc, normal appearing retinal vasculature, and marked visual impairment. This condition may be unilateral or bilateral and familial cases have been(More)
Of 100 consecutive female patients referred to a urology clinic in Sheffield with suspected renal pain, only 22% has upper-urinary-tract lesions. A full history and examination, an analysis of a midstream specimen of urine, and a straight X-ray examination of the renal tract indicated or excluded an upper-urinary-tract lesion in 94% of the cases. In the(More)
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