https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24743 Wed 11 Apr 2018 16:33:09 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36117 Tue 11 Feb 2020 10:30:07 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32340 Thu 24 May 2018 10:50:09 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32339 Thu 24 May 2018 10:50:05 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:11067 Sat 24 Mar 2018 08:13:32 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27717 0.92, with the exception of blood lactate concentration (7.0±2 mmol·L^-1 vs. 6.5±1.5 mmol·L^-1 for trials 1 and 2, respectively; CV: 12%, ICC: 0.83) and the electromyography measures (CV: 8-27%, ICC: 0.71-0.91). The data demonstrate that performance time in a 5 km running time trial on a non-motorized treadmill is a highly reliable test. Most physiological responses measured across the 5 km run also demonstrated good reliability.]]> Sat 24 Mar 2018 07:24:38 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38395 146.7 ng/ml). The s-IGF-I level was not associated with recurrent stroke (N=79) or death (N=44), although it correlated with recovery (r=0.12, P=0.035). In the regression analysis, s-IGF-I associated with recovery between 3 months and 7 years (but not between 2 and 7 years). The associations did not withstand adjustment for age and sex. For comparison, the corresponding associations between 3 months and 2 years withstood all adjustments. Conclusion: The association for s-IGF-I with long-term post-stroke recovery persists after 7 years, which is also reflected in the mRS score distributions at all time-points. The effects are however modest, and not driven by mortality or recurrent stroke.]]> Mon 29 Jan 2024 17:47:17 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50382 Mon 24 Jul 2023 13:16:53 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38947 MTPAP/TENT6, encoding mitochondrial poly(A) polymerase (MTPAP), was first reported in six individuals of Old Order Amish descent demonstrating an early-onset, progressive spastic ataxia with optic atrophy and learning difficulties. MTPAP contributes to the regulation of mitochondrial gene expression through the polyadenylation of mitochondrially encoded mRNAs. Mitochondrial mRNAs with severely truncated poly(A) tails were observed in affected individuals, and mitochondrial protein expression was altered. Objective: To determine the genetic basis of a perinatal encephalopathy associated with stereotyped neuroimaging and infantile death in three patients from two unrelated families. Methods: Whole-exome sequencing was performed in two unrelated patients and the unaffected parents of one of these individuals. Variants and familial segregation were confirmed by Sanger sequencing. Polyadenylation of mitochondrial transcripts and de novo synthesis of mitochondrial proteins were assessed in patient's fibroblasts. Results: Compound heterozygous p.Ile428Thr and p.Arg523Trp substitutions in MTPAP were recorded in two affected siblings from one family, and a homozygous p.Ile385Phe missense variant identified in a further affected child from a second sibship. Mitochondrial poly(A) tail analysis demonstrated shorter posttranscriptional additions to the mitochondrial transcripts, as well as an altered expression of mitochondrial proteins in the fibroblasts of the two siblings compared with healthy controls. Conclusion: Mutations in MTPAP likely cause an autosomal recessive perinatal encephalopathy with lethality in the first year of life.]]> Fri 11 Mar 2022 12:45:18 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52960 Fri 03 Nov 2023 12:28:57 AEDT ]]>