https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Paediatric pituitary disorders https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15224 Wed 11 Apr 2018 14:06:00 AEST ]]> Non-invasive detection of microvascular changes in a paediatric and adolescent population with type 1 diabetes: a pilot cross-sectional study https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14765 Wed 11 Apr 2018 11:44:11 AEST ]]> A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20547 Tue 08 Sep 2015 11:12:32 AEST ]]> Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30932 WHO) and PWS specific BMI (SDSWHO (− 0.88 vs 0.40) than toddlers, while toddlers had a lower height SDSWHO (− 1.44 vs − 2.09) (both P < 0.05). All increased height SDSWHO (2 year delta height infants + 1.26 SDS, toddlers + 1.21 SDS), but infants normalised height sooner, achieving a height SDS of − 0.56 within 1 year, while toddlers achieved a height SDS of − 0.88 in two years. BMI SDSWHO increased, while BMI SDSPWS decreased (both P < 0.0001) and remained negative. The GHT response did not differ with gestation (preterm 23%) or genetic subtype (deletion vs maternal uniparental disomy). Bone age advancement paralleled chronological age. All children had low serum IGF-I at baseline which increased, but remained within the age-based reference range during GHT (for 81% in first year). Four children had spinal curvature at baseline; two improved, two progressed to a brace and two developed an abnormal curve over the observation period. Mild to severe central and/or obstructive sleep apnoea were observed in 40% of children prior to GHT initiation; 11% commenced GHT on positive airway pressure (PAP), oxygen or both. Eight children ceased GHT due to onset or worsening of sleep apnoea: 2 infants in the first few months and 6 children after 6–24 months. Seven resumed GHT usually after adjusting PAP but five had adenotonsillectomy. One child ceased GHT temporarily due to respiratory illness. No other adverse events were reported. Two children substantially improved their breathing shortly after GHT initiation. Conclusion: Initiation of GHT in infants with 4.5 mg/m²/week was beneficial and comparable in terms of auxological response to a dose of 7 mg/m²/week. Regular monitoring pre and post GH initiation assisted in early detection of adverse events. IGF-I levels increased with the lower dose but not excessively, which may lower potential long-term risks.]]> Thu 27 Jan 2022 15:55:57 AEDT ]]> Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33869 Thu 13 Jan 2022 10:32:18 AEDT ]]> Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:3113 Sat 24 Mar 2018 08:29:09 AEDT ]]> Phenotype-genotype correlations in a series of Wolfram syndrome families https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:1443 Sat 24 Mar 2018 08:28:07 AEDT ]]> Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13881 Sat 24 Mar 2018 08:25:50 AEDT ]]> Increased detection of cystic-fibrosis-related diabetes in Australia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14339 Sat 24 Mar 2018 08:21:25 AEDT ]]> Normal cortisol response on low-dose synacthen (1 μg) test in children with Prader Willi Syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:10483 Sat 24 Mar 2018 08:09:13 AEDT ]]> Population-based incidence of diabetes in Australian youth aged 10-18yr: increase in type 1 diabetes but not type 2 diabetes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:21267 Sat 24 Mar 2018 07:54:42 AEDT ]]> A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24614 T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100 000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. Conclusions: The association of RNF113A mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.]]> Sat 24 Mar 2018 07:11:55 AEDT ]]> A personal series of 100 children operated for Cushing's disease (CD): optimizing minimally invasive diagnosis and transnasal surgery to achieve nearly 100% remission including reoperations https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:35058 Mon 30 Sep 2019 13:09:50 AEST ]]> Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis; immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23772 Mon 23 Sep 2019 11:25:00 AEST ]]> Autoantibodies against pituitary proteins in patients with adrenocorticotropin-deficiency https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:10 Mon 16 Apr 2018 14:25:47 AEST ]]> Recurrences of Pituitary Adenomas or Second De Novo Tumors: Comparisons with First Tumors https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:41275 Mon 01 Aug 2022 09:56:38 AEST ]]>