Urologic surveillance of persons with spinal cord injuries - a scoping review.

STUDY DESIGN: Scoping review - standardized according to the Equator-network and the Prisma-Statement guidelines with PRISMA-ScR. OBJECTIVES: Review the literature concerning surveillance of the urinary- and renal systems in persons with spinal cord injuries (SCI). Specifically, to assess: #1 the usability of non-invasive and non-ultrasound methods, #2 the usage of systematic ultrasound surveillance #3 patient characteristics which predispose to urinary tract abnormalities (UTA) or renal function deterioration. METHODS: The literature assessed was collected from PubMed by creating a search string comprised of three main phrases: #1 persons with SCI, #2 kidney function and #3 surveillance program. The final search resulted in 685 studies. Eligibility criteria were defined prior to the search to assess the studies systematically. RESULTS: Four studies found serum cystatin C (s-cysC) to be accurate in estimating the glomerular filtration rate in persons with SCI. One study found no difference in UTA between surveillance adherent and surveillance non-adherent persons up to 30 years post injury. UTA and especially renal function deterioration seems rare the first 15 years post-injury. Non-traumatic SCI, time since injury, high detrusor pressure, upper urinary tract dilation, vesicourethral reflux, trabeculated bladder, history of calculi removal are significant risk factors for developing UTA or renal function deterioration. CONCLUSION: Measurements of S-cysC should be considered to replace serum creatinine in most cases. Surveillance non-adherent persons are not at higher risk of developing UTA. A selective surveillance based on a baseline risk profile may be beneficial for patients and caretakers.

Ultramicronized palmitoylethanolamide in spinal cord injury neuropathic pain: a randomized, double-blind, placebo-controlled trial.

Neuropathic pain and spasticity after spinal cord injury (SCI) represent significant problems. Palmitoylethanolamide (PEA), a fatty acid amide that is produced in many cells in the body, is thought to potentiate the action of endocannabinoids and to reduce pain and inflammation. This randomized, double-blind, placebo-controlled, parallel multicenter study was performed to investigate the effect of ultramicronized PEA (PEA-um) as add-on therapy on neuropathic pain in individuals with SCI. A pain diary was completed and questionnaires were completed before and after the 12-week treatment with either placebo or PEA-um. The primary outcome measure was the change in mean neuropathic pain intensity from the 1-week baseline period to the last week of treatment measured on a numeric rating scale ranging from 0 to 10. The primary efficacy analysis was the intention to treat (baseline observation carried forward). Secondary outcomes included a per protocol analysis and effects on spasticity, evoked pain, sleep problems, anxiety, depression, and global impression of change. We randomized 73 individuals with neuropathic pain due to SCI, of which 5 had a major protocol violation, and thus 68 were included in the primary analysis. There was no difference in mean pain intensity between PEA-um and placebo treatment (P = 0.46, mean reductions in pain scores 0.4 (-0.1 to 0.9) vs 0.7 (0.2-1.2); difference of means 0.3 (-0.4 to 0.9)). There was also no effect of PEA-um as add-on therapy on spasticity, insomnia, or psychological functioning. PEA was not associated with more adverse effects than placebo.

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG1 (GFM1; 606639). Mutations have been identified in the genes encoding all three elongation factors, and they result in combined respiratory chain deficiencies and severe phenotypes with an early fatal outcome. So far, only eleven patients have been reported with mutations in GFM1. Here we describe an additional three patients with novel GFM1 mutations. Our results confirm the tissue-specific effect of GFM1 mutations, since we found only slightly decreased respiratory chain enzyme activities in muscle and fibroblasts, but a severe deficiency in the liver. Hence, a thorough biochemical evaluation is important to guide genetic investigation in patients suspected for a mitochondrial disorder.