https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38068 p <0.001), longer disease duration (HR=1.01, p=0.038), a higher Expanded Disability Status Scale score (HR=1.30, p<0.001), more rapid disability trajectory (HR=2.82, p<0.001) and greater number of relapses in the previous year (HR=1.07, p=0.010) were independently associated with an increased risk of secondary progressive multiple sclerosis. Improving disability (HR=0.62, p=0.039) and disease-modifying therapy exposure (HR=0.71, p=0.007) were associated with a lower risk. Recent cerebral magnetic resonance imaging activity, evidence of spinal cord lesions and oligoclonal bands in the cerebrospinal fluid were not associated with the risk of conversion. Conclusion:Risk of secondary progressive multiple sclerosis increases with age, duration of illness and worsening disability and decreases with improving disability. Therapy may delay the onset of secondary progression.]]> Wed 24 May 2023 12:22:34 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:54611 Wed 06 Mar 2024 10:38:32 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51272 Tue 29 Aug 2023 15:42:42 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51624 Tue 12 Sep 2023 14:37:58 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52120 Thu 28 Sep 2023 15:04:45 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53990 Thu 25 Jan 2024 13:04:15 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52624 Thu 19 Oct 2023 14:15:33 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52212 88% likely to be sustained (events with score ˃1.5). Conclusions: Clinicodemographic characteristics of 6-month confirmed disability progression events identify those at high risk of sustained long-term disability. This knowledge will allow future trials to better assess the effect of therapy on long-term disability accrual.]]> Thu 05 Oct 2023 10:22:58 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45808 Mon 07 Nov 2022 11:35:58 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53931 Fri 22 Mar 2024 08:23:10 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39715 SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1–3 years (defined as a bodyweight-for-age Z score <–2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. Findings: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3–61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76–8·34; log-rank test p=0·0041). Patients who were underweight during age 1–3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4·71, 95% CI 1·26–17·58, p=0·021). The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III. Tri-iodothyronine concentrations were above the age-specific upper limit in 96 (95%) of 101 patients and free thyroxine concentrations were below the age-specific lower limit in 94 (89%) of 106 patients. 59 (71%) of 83 patients were underweight. 25 (53%) of 47 patients had elevated systolic blood pressure above the 90th percentile, 34 (76%) of 45 patients had premature atrial contractions, and 20 (31%) of 64 had resting tachycardia. The most consistent MRI finding was a global delay in myelination, which occurred in 13 (100%) of 13 patients. Interpretation: Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies. Funding: Netherlands Organisation for Health Research and Development, and the Sherman Foundation.]]> Fri 17 Jun 2022 17:24:04 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51685 Fri 15 Sep 2023 09:36:29 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51340 Fri 01 Sep 2023 13:35:50 AEST ]]>