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Basic biochemical tests are frequently obtained in acutely unwell neonates and children, as well as in some elective situations. Correct interpretation can be invaluable in identifying rare inherited primary metabolic disorders, but secondary causes of hyperammonaemia, elevated blood lactate or blood gas derangement are more common and require appropriate treatment of the underlying cause. This Personal Practice guide provides an overview of these tests and their interpretation.  相似文献   
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BACKGROUND: Purinergic receptors are cell-surface molecules that bind extracellular nucleotides, notably ATP. The P2X family includes seven nonselective ion channels with one member, P2X(7), implicated in cytolytic pore formation and cell death. MATERIALS AND METHODS: We sought P2X(7) expression in mouse nephrogenesis and cpk/cpk renal cyst growth, conditions in which both proliferation and apoptosis are prominent. RESULTS: P2X(7) immunolocalized to condensed metanephric mesenchyme: both proliferation and apoptosis were detected in this compartment, assessed by proliferating cell nuclear antigen expression and propidium iodide-stained pyknotic nuclei respectively. Later in nephrogenesis, P2X(7) was detected in collecting ducts, a pattern persisting to maturity. A mesenchymal to epithelial shift of P2X(7) expression was also documented in ureter development. In cpk/cpk kidneys, P2X(7)-expressing collecting duct cysts dominated histology from two weeks until four weeks after birth, when animals die from uremia. In polycystic kidneys pyknotic nuclei were rarely identified in P2X(7)-expressing epithelia, but were detected between cysts, consistent with a non-apoptotic role for P2X(7) in cyst enlargement. CONCLUSION: P2X(7) is expressed during normal nephrogenesis and in a model of congenital polycystic kidney disease. Further experiments are necessary to define possible functions of P2X(7) in these settings.  相似文献   
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A 62-year-old male with no significant medical history developed thromboembolic complications in the lower limbs shortly after an assault which involved punching and kicking to the trunk. Laparotomy revealed intra-abdominal injuries and an abdominal aortic aneurysm. Death from multi-organ failure and sepsis occurred 9 days post-injury. The discussion concentrates on blunt force trauma to the abdominal aorta, specifically on causation, mechanisms of injury and complications.  相似文献   
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The objective of this study was to examine missed opportunities for participation in a prevention of mother-to-child transmission (PMTCT) programme in three sites in South Africa. A rapid anthropological assessment was used to collect in-depth data from 58 HIV-positive women who were enrolled in a larger cohort study to assess mother-to-child HIV transmission. Semi-structured interviews were conducted with the women in order to gain an understanding of their experiences of antenatal care and to identify missed opportunities for participation in PMTCT.  相似文献   
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