https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52348 Wed 28 Feb 2024 15:40:27 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45251 Wed 26 Oct 2022 15:28:22 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31519 F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. Results: A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score −0.65 vs −0.03; P = .02). Conclusions: LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.]]> Wed 24 Nov 2021 15:52:38 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47803 Tue 31 Jan 2023 16:57:00 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46686 Tue 29 Nov 2022 09:36:12 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33176 6× upper limit of normal (ULN) and 4 had >10× ULN. TTG Ab-positive patients were classified as having either potential CD with (n = 3, 16%) and without lymphocytic duodenosis (LD; n = 12, 63%), and no CD (n = 4, 21%) on human leukocyte antigen typing. There was an increase in duodenal eosinophils in patients with elevated TTG Ab (P = 0.01), which remained when patients with LD were excluded (P = 0.018). Of 19 patients with EoE and elevated TTG Ab, 5 responded to elimination diet involving exclusion of wheat, including 2 with a sole wheat trigger and TTG Ab >10× ULN that were CD-associated human leukocyte antigen-negative. Conclusions: Serum TTG Ab was elevated in almost one-quarter of our total EoE cohort, and at least 20% of these patients did not have potential CD, suggesting EoE is a heterogeneous disease with differing immune mechanisms activated in some patients. These findings also support routine esophageal biopsy during upper endoscopy in children with elevated TTG Ab.]]> Tue 11 Sep 2018 12:15:33 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31058 A variant was observed in homozygosity or compound heterozygosity in 10 patients. We found seven previously reported variants: p.(Trp140*), p.(Arg218*), p.(Gly266*), p.(Thr288Ile), p.(Leu294Ser), p.(His295Tyr) and p.(Gly342Arg) and two novel variants: p.(Asp345Asn), affecting the LAL catalytic triad, and c.229+3A > C, affecting splicing. Homozygosity for p.(Thr288Ile) or c.229+3A > C was associated with a severe phenotype. Conclusions: This study provides additional data on the features of childhood-onset LAL-D and describes two novel pathogenic variants of the LIPA gene.]]> Thu 03 Feb 2022 12:18:33 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:41570 Thu 02 May 2024 15:43:27 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8273 Sat 24 Mar 2018 08:33:28 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14113 Sat 24 Mar 2018 08:26:02 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14390 Sat 24 Mar 2018 08:21:04 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20760 Sat 24 Mar 2018 08:00:26 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28742 Sat 24 Mar 2018 07:37:37 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25830 Sat 24 Mar 2018 07:34:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28855 Sat 24 Mar 2018 07:33:20 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25615 Sat 24 Mar 2018 07:28:13 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31059 45 days, change in length z scores within 3 months of HPE, and center. On multivariate analysis, TB (P < 0.0001) and albumin (P=0.02) at 3 months post-HPE, and center (P=0.0003) were independently associated with native liver survival. Receiver operating characteristic analysis revealed an optimal cut-off value of TB < 74 µmol/L (4.3 mg/dL; area under the receiver operating characteristic curve 0.8990) and serum albumin level > 35 g/L (3.5 mg/dL; area under the receiver operating characteristic curve 0.7633) to predict 2-year native liver survival. TB and albumin levels 3 months post-HPE defined 3 groups (1: TB =74 µmol/L, albumin > 35 g/L; 2: TB =74 µmol/L, albumin =35 g/L; 3: TB > 74 µmol/L) with distinct short-and long-term native liver survival rates (log-rank P < 0.001). Length z scores 3 months post-HPE were poorer for group 2 than group 1 (-0.91 vs-0.30, P=0.0217) with similar rates of coagulopathy. Conclusions: Serum TB and albumin levels 3 months post-HPE independently predicted native liver survival in BA when controlling for center. Serum albumin level < 35 g/L in infants with BA who were no longer jaundiced at 3 months post-HPE was a poor prognostic indicator. Poorer linear growth and absence of significant coagulopathy suggest a role for early aggressive nutritional therapy in this group.]]> Sat 24 Mar 2018 07:25:47 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28359 in vivo in the absence of allergen. Post hoc analysis of gene array data demonstrated significant upregulation of TRAIL and MID1 in a cohort of children with EoE compared with that seen in controls. Conclusion TRAIL regulates MID1 and TSLP, inflammation, fibrosis, smooth muscle hypertrophy, and expression of inflammatory effector chemokines and cytokines in experimental EoE.]]> Sat 24 Mar 2018 07:25:13 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29786 Tnfsf10^−/−) mice were administered subcutaneous ovalbumin (OVA) followed by oral OVA challenges. In separate experiments, OVA-challenged mice were intraperitoneally administered salmeterol or dexamethasone. Esophageal biopsies from children with EoE revealed increased levels of TRAIL and MID-1 and reduced PP2A activation compared with controls. Tnfsf10^−/− mice were largely protected from esophageal fibrosis, eosinophilic inflammation, and the upregulation of TSLP, IL-5, IL-13, and CCL11 when compared with wild-type mice. Salmeterol administration to wild-type mice with experimental EoE restored PP2A activity and also prevented esophageal eosinophilia, inflammatory cytokine expression, and remodeling, which was comparable to the treatment effect of dexamethasone. TRAIL and PP2A regulate inflammation and fibrosis in experimental EoE, which can be therapeutically modulated by salmeterol.]]> Sat 24 Mar 2018 07:23:39 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46208 Mon 14 Nov 2022 11:43:52 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38011 Fri 23 Jul 2021 15:12:58 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39979 Fri 01 Jul 2022 10:05:37 AEST ]]>