Junker Pilgaard (clavecymbal6)

that patients may have avoided urgent health care risking poorer short and long-term health outcomes.Inborn errors of metabolism (IEM) involving the non-oxidative pentose phosphate pathway (PPP) include the two relatively rare conditions, transketolase deficiency and transaldolase deficiency, both of which can be difficult to diagnosis given their non-specific clinical presentations. Current biochemical testing approaches require an index of suspicion to consider targeted urine polyol testing. To determine whether a broad-spectrum biochemical test could accurately identify a specific metabolic pattern defining IEMs of the non-oxidative PPP, we employed the use of clinical metabolomic profiling as an unbiased novel approach to diagnosis. Subjects with molecularly confirmed IEMs of the PPP were included in this study. Targeted quantitative analysis of polyols in urine and plasma samples was accomplished with chromatography and mass spectrometry. Semi-quantitative unbiased metabolomic analysis of urine and plasma samples was achieved by assessing small molecules via liquid chromatography and high-resolution masency in both plasma and urine samples. In addition, untargeted metabolomics was able to identify novel biomarkers, thereby expanding the current knowledge of both conditions and providing further insight into potential underlying pathophysiological mechanisms. Furthermore, untargeted metabolomic testing offers the advantage of having a single effective biochemical screening test for identification of rare IEMs, like TKT and TALDO deficiencies, that may otherwise go undiagnosed due to their generally non-specific clinical presentations.Malignant spinal cord compression is one of the most dreaded complications of advanced malignancy, with patients presenting with progressive paralysis, paresthesia and/or autonomic dysfunction. The choice of management should be guided by the expected prognosis and outcome, not just from a neurological function point-of-view but also from the metastatic cancer itself. The main indications for surgery are impending cord compression, spinal instability from tumour progression, bony retropulsion, for tissue diagnosis and for pain resistant to conventional therapies. Here, surgical principles, traditional and novel techniques and complications will be reviewed. For radiotherapy, multiple randomised studies have shown that for most patients a single fraction of external radiation has the same functional outcomes compared with multi-fractionation protocols. The experience of a specialised centralised interdisciplinary team will also be discussed.The purpose of this study was to evaluate the available clinical and radiographic evidence for incorporation of a gastrocnemius recession or tendo-Achilles lengthening into the surgical correction of adult acquired flatfoot deformity. A systematic review of the literature was performed using PubMed, Embase, Cochrane, CINAHL, and Google Scholar. Among the relevant articles, the level of evidence and quality was identified using the Methodological Index for Non-Randomized Studies tool. No study explicitly examined whether clinical or radiographic outcomes after adult acquired flatfoot deformity correction are improved when incorporating a gastrocnemius recession or tendo-Achilles lengthening compared with when no such procedure is performed, nor have they directly compared outcomes between 2 procedures. Studies demonstrated an overall improvement in postoperative range of motion and plantar flexion power after gastrocnemius recession, but such findings are hard to separate from the clinical contribution of concomitant corrective procedures to the foot itself. All studies that analyzed anteroposterior talo-calcaneal angle, anteroposterior lateral talo-first metatarsal angle and calcaneal inclination angle revealed improvement of each parameter postoperatively. There were no high-level evidence studies in the literature explicitly quantifying ankle range of mo