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1.  Suspension trauma 
Emergency Medicine Journal : EMJ  2007;24(4):237-238.
Suspension trauma (also known as “harness‐induced pathology” or “orthostatic shock while suspended”) is the development of presyncopal symptoms and loss of consciousness if the human body is held motionless in a vertical position for a period of time. It has been described in experiments of personal fall protection, and has been implicated in causes of death in mountaineering accidents, but it seems neither to be widely known about nor to have been presented to the medical profession. This article highlights the potential existence of suspension trauma and suggests that more robust medical research using modern harnesses and healthy volunteers would be beneficial to assess whether this is purely a theoretical risk.
PMCID: PMC2658225  PMID: 17384373
2.  Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes 
Diabetes  2011;60(3):925-935.
Genetic defects in human pericentrin (PCNT), encoding the centrosomal protein pericentrin, cause a form of osteodysplastic primordial dwarfism that is sometimes reported to be associated with diabetes. We thus set out to determine the prevalence of diabetes and insulin resistance among patients with PCNT defects and examined the effects of pericentrin depletion on insulin action using 3T3-L1 adipocytes as a model system.
A cross-sectional metabolic assessment of 21 patients with PCNT mutations was undertaken. Pericentrin expression in human tissues was profiled using quantitative real-time PCR. The effect of pericentrin knockdown on insulin action and adipogenesis in 3T3-L1 adipocytes was determined using Oil red O staining, gene-expression analysis, immunoblotting, and glucose uptake assays. Pericentrin expression and localization also was determined in skeletal muscle.
Of 21 patients with genetic defects in PCNT, 18 had insulin resistance, which was severe in the majority of subjects. Ten subjects had confirmed diabetes (mean age of onset 15 years [range 5–28]), and 13 had metabolic dyslipidemia. All patients without insulin resistance were younger than 4 years old. Knockdown of pericentrin in adipocytes had no effect on proximal insulin signaling but produced a twofold impairment in insulin-stimulated glucose uptake, approximately commensurate with an associated defect in cell proliferation and adipogenesis. Pericentrin was highly expressed in human skeletal muscle, where it showed a perinuclear distribution.
Severe insulin resistance and premature diabetes are common features of PCNT deficiency but are not congenital. Partial failure of adipocyte differentiation may contribute to this, but pericentrin deficiency does not impair proximal insulin action in adipocytes.
PMCID: PMC3046854  PMID: 21270239
3.  Ultra-high resolution array painting facilitates breakpoint sequencing 
Journal of medical genetics  2006;44(1):51-58.
The application of comparative genomic hybridization to DNA microarrays (array-CGH) has greatly improved the speed and resolution at which chromosome rearrangements involving genomic imbalance can be studied. For diagnosis of patients whose disease is suspected to be due to a balanced reciprocal translocation, we have developed a modification of array-CGH, termed array painting, which utilizes flow sorting of the derivative chromosomes before hybridization to an array to map the rearrangement breakpoints (Fiegler et al. 2003). However, current mapping resolution by array painting is rarely adequate to definitively identify disrupted genes which may be responsible for the disease phenotype and further time consuming and often technically challenging studies are required to clone and sequence the breakpoints. In this study, we describe the use of ultra-high resolution arrays to provide such an increased improvement in the resolution of breakpoint mapping by array painting that translocation breakpoints can be directly amplified and sequenced. This method of ultra-high resolution array painting enables rapid and definitive identification of gene disruption in balanced reciprocal translocations and will greatly improve the diagnosis for this group of patients.
PMCID: PMC2597908  PMID: 16971479

Results 1-3 (3)