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308 results on '"Blair, Joanne"'

10. National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and Clinicians

Author

Lawrence, Neil R., primary, Bacila, Irina A., additional, Collins, Gary S., additional, Dawson, Jeremy, additional, Lang, Zi-Qiang, additional, Ji, Xiaochen, additional, Ahmed, S. Faisal, additional, Alvi, Sabah, additional, Bath, Louise Eleanor, additional, Blair, Joanne, additional, Cheetham, Tim, additional, Crowne, Elizabeth Clare, additional, Davies, Justin H., additional, Dattani, Mehul, additional, Gevers, Evelien F., additional, Krone, Ruth, additional, Patel, Leena, additional, Thankamony, Ajay, additional, Randell, Tabitha, additional, Ryan, Fiona, additional, Elford, Sue, additional, Blackett, Sallyann, additional, and Krone, Nils P., additional

Published
2024
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11. The Hypothalamus–Pituitary Axis

Author

Rohrbasser, Linda Johnston, Alsaffar, Hussain, Blair, Joanne, Lenzi, Andrea, Series editor, Jannini, Emmanuele A., Series editor, Belfiore, Antonino, editor, and LeRoith, Derek, editor

Published
2018
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21. An endocrine and molecular study of idiopathic short stature

Author

Blair, Joanne C.

Subjects
618.9247
Abstract

This project investigated possible mechanisms of impaired growth in 23 children with ISS by analysing the activity of the GH-IGF-I axis by assessment of spontaneous GH secretion, and IGF-I and IGFBP-3 responses in standard and low dose IGF-I generation tests.  The GH receptor (GHR) gene was analysed in a subgroup of children with evidence of impaired GH responsesiveness.  The role of the short stature homeobox containing gene (SHOX) in the regulation growth was studied by gene analysis in 50 children with ISS, and investigation of the effect of SHOX gene expression n osteoblast differentiation in vitro. Endocrine evaluation demonstrated low basal serum IGF-I, more likely to reflect GH insufficiency than GH insensitivity.  Impaired GH responsiveness was observed in 6/23 subjects, 1 of whom had a missense (S375C) and a nonsense mutation (Q431X) in exon 10, and 4 a previously reported polymorphism (A780G) in exon 6. Analysis of the SHOX gene identified a missense mutation in exon 2 (Q92K) in a subject with impaired GH responsiveness and disordered GH secretion.  Another subject was either homozygous for a polymorphism in intron 3, or was haploinsufficeint for SHOX.  Murine multipotential cells (C3H10T½) were transfected with SHOX and stimulated to undergo osteoblast differentiation.  In this model, SHOX gene expression inhibited osteoblast differentiation and proliferation. By clarifying the role of partial GH insensitivity in the aetiology of ISS, and identifying the primary role of SHOX, it may be possible to explore new, more accurately directed interventions for the treatment of impaired growth.

Published
2003

27. Delayed and Precocious Puberty

Author

Abernethy, Laurence J., Blair, Joanne C., Smith, Julie B., Didi, Mohammed A., Mann, Gurdeep S., editor, Blair, Joanne C., editor, and Garden, Anne S., editor

Published
2012
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28. Emergency diagnosis made easy: matrix removal and analyte enrichment from raw saliva using paper-arrow mass spectrometry.

Author

Zhou, Yufeng, Sham, Tung-Ting, Boisdon, Cedric, Smith, Barry L., Blair, Joanne C., Hawcutt, Daniel B., and Maher, Simon

Subjects
MASS spectrometry, LIVER failure, SALIVA, DIAGNOSIS, DRUG overdose, ACETAMINOPHEN
Abstract

Paracetamol overdose is a leading cause of acute liver failure that can prove fatal. Establishing paracetamol concentration accurately and quickly is critical. Current detection methods are invasive, time-consuming and/or expensive. Non-invasive, rapid and cost-effective techniques are urgently required. To address this challenge, a novel approach, called Paper-Arrow Mass Spectrometry (PA-MS) has been developed. This technique combines sample collection, extraction, enrichment, separation and ionisation onto a single paper strip, and the entire analysis process, from sample to result, can be carried out in less than 10 min requiring only 2 μL of raw human saliva. PA-MS achieved a LOQ of 185 ng mL−1, mean recovery of 107 ± 7%, mean accuracy of 11 ± 8% and precision ≤5% using four concentrations, and had excellent linearity (r2 = 0.9988) in the range of 0.2–200 μg mL−1 covering the treatment concentration range, surpassing the best-in-class methods currently available for paracetamol analysis. Furthermore, from a panel of human saliva samples, inter-individual variability was found to be <10% using this approach. This technique represents a promising tool for rapid and accurate emergency diagnosis. [ABSTRACT FROM AUTHOR]

Published
2023
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29. Early GH Treatment Is Effective and Well Tolerated in Children With Turner Syndrome: NordiNet® IOS and Answer Program.

Author

Backeljauw, Philippe, Blair, Joanne C., Ferran, Jean-Marc, Kelepouris, Nicky, Miller, Bradley S., Pietropoli, Alberto, Polak, Michel, Sävendahl, Lars, Verlinde, Franciska, and Rohrer, Tilman R.

Subjects
SOMATOTROPIN, TURNER'S syndrome, HUMAN growth hormone
Abstract

Context: Despite having normal growth hormone (GH) secretion, individuals with Turner syndrome (TS) have short stature. Treatment with recombinant human GH is recommended for TS girls with short stature. Objective: This work aimed to evaluate the effectiveness and safety of Norditropin (somatropin, Novo Nordisk) with up to 10 years of follow-up in children with TS. Methods: Secondary analysis was conducted of Norditropin data from 2 non-interventional studies: NordiNet® IOS (NCT00960128) and the ANSWER program (NCT01009905). Results: A total of 2377 girls with TS were included in the safety analysis set (SAS), with 1513 in the treatment-naive effectiveness analysis set (EAS). At the start of treatment, 1273 (84%) participants were prepubertal (EAS); mean (SD) age was 8.8 (3.9) years. Mean (SD) dose received at the start of GH treatment was 0.045 (0.011) mg/kg/day (EAS). Mean (SD) baseline insulin-like growth factor-1 (IGF-I) SD score (SDS) was −0.86 (1.52), and mean (SD) duration of GH treatment (SAS) was 3.8 (2.8) years. Height SDS (HSDS) increased throughout follow-up, with near-adult HSDS reached by 264 (17%) participants (mean [SD] −1.99 [0.94]; change from baseline +0.90 [0.85]). During the study, 695 (46%) participants (EAS) entered puberty at a mean (SD) age of 12.7 (1.9) years (whether puberty was spontaneous or induced was unknown). Within the SAS, mean IGF-I SDS (SD) at year 10 was 0.91 (1.69); change from baseline +1.48 (1.70). Serious adverse reactions were reported in 10 participants (epiphysiolysis [n = 3]). Conclusion: GH-treated participants with TS responded well, without new safety concerns. Our real-world data are in agreement with previous studies. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Response to Letter to the Editor From Chatelain et al: “Weekly Somapacitan Is Effective and Well Tolerated in Children With GH Deficiency: The Randomized Phase 3 REAL4 Trial”

Author

Miller, Bradley S, primary, Blair, Joanne C, additional, Rasmussen, Michael Højby, additional, Maniatis, Aristides, additional, Kildemoes, Rasmus Juul, additional, Mori, Jun, additional, Polak, Michel, additional, Bang, Rikke Beck, additional, Böttcher, Volker, additional, Stagi, Stefano, additional, and Horikawa, Reiko, additional

Published
2023
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32. Supplementary materials for 'Early GH Treatment is Effective and Well Tolerated in Children with Turner Syndrome: NordiNet® IOS and ANSWER Program'

Author

Backeljauw, Philippe, Blair, Joanne, Ferran, Jean-Marc, Kelepouris, Nicky, Miller, Bradley S., Pietropoli, Alberto, Polak, Michel, Sävendahl, Lars, Verlind, Franciska, and Rohrer, Tilman R.

Abstract

Supplementary materials for ' Early GH Treatment is Effective and Well Tolerated in Children with Turner Syndrome: NordiNet® IOS and ANSWER Program'

Published
2023
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33. Plain language summary for 'Effective GH Replacement with Somapacitan in Children with GHD: REAL4 2-year Results and after Switch from Daily GH'

Author

Miller, Bradley S., Blair, Joanne, Højby Rasmussen, Michael, Maniatis, Aristides K, Mori, Jun, Böttcher, Volker, Kim, Ho-Seong, Bang, Rikke Beck, Polak, Michel, and Horikawa, Reiko

Abstract

Plain language summary for "Effective GH Replacement with Somapacitan in Children with GHD: REAL4 2-year Results and after Switch from Daily GH"

Published
2023
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39. Weekly Somapacitan is Effective and Well Tolerated in Children With GH Deficiency: The Randomized Phase 3 REAL4 Trial

Author

Miller, Bradley S, primary, Blair, Joanne C, additional, Rasmussen, Michael Højby, additional, Maniatis, Aristides, additional, Kildemoes, Rasmus Juul, additional, Mori, Jun, additional, Polak, Michel, additional, Bang, Rikke Beck, additional, Böttcher, Volker, additional, Stagi, Stefano, additional, and Horikawa, Reiko, additional

Published
2022
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41. Baseline and peak cortisol response to the low dose short Synacthen test relates to indication for testing, age and sex

Author

Park, Julie, Titman, Andrew, Lancaster, Gillian, Selvarajah, Bhavana, Collingwood, Catherine, Powell, Darren, Das, Urmi, Dharmaraj, Poonam, Didi, Mohammed, Senniappan, Senthil, Blair, Joanne, Park, Julie, Titman, Andrew, Lancaster, Gillian, Selvarajah, Bhavana, Collingwood, Catherine, Powell, Darren, Das, Urmi, Dharmaraj, Poonam, Didi, Mohammed, Senniappan, Senthil, and Blair, Joanne

Abstract

Objective To review the outcomes of a simplified low dose Synacthen test (LDSST) performed in a tertiary endocrine service over seven years, and to examine for relationships between cortisol measurements and indication for testing, age and sex. Design Retrospective, observational study of LDSST performed in 2008 – 2014 (N=335) and 2016-2020 (N=160). Methods LDSST were performed by endocrine nurses. Synacthen 500ng/1.73m 2 administered as IV bolus, sampling at 0, 15, 25 and 35 minutes. Results Mean (± 1SD) baseline cortisol was 221 ± 120 nmol/L, peak 510 ± 166nmol/L and increment 210 ± 116 nmol/L. 336 (70%) of patients had a normal response (baseline cortisol >100nmol/L, peak >450nmol/L), 78 (16%) a suboptimal response (peak cortisol 350-450nmol/L) and were prescribed hydrocortisone to during periods of stress only, 67 (14%) an abnormal response (baseline <100nmol/L or peak <350nmol/L) and were prescribed daily hydrocortisone. Basal, peak and incremental increases in cortisol were higher in females (p=0.03, p<0.001, p=0.03 respectively). Abnormal results occurred most frequently in patients treated previously with pharmacological doses of glucocorticoids or structural brain abnormalities (p<0.0001). Discussion There are concerns that the specificity of the LDSST is poor. The low prevalence and strong association of abnormal results with indication for testing, suggests that over diagnosis occurred infrequently in this clinical setting.

Published
2022

42. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Author

Nordenström, Anna, Ahmed, Sayed Faisal, van den Akker, Erica, Blair, Joanne, Bonomi, Marco, Brachet, Cécile, Broersen, Leonie L.H.A., Claahsen-van der Grinten, Hedi H.L., Dessens, Arianne A.B., Gawlik, Aneta Monika A., Gravholt, Claus C.H., Juul, Anders, Krausz, Csilla, Raivio, Taneli, Smyth, Arlene, Touraine, Phillipe, Vitali, Diana, Dekkers, Olaf Matthijs, Nordenström, Anna, Ahmed, Sayed Faisal, van den Akker, Erica, Blair, Joanne, Bonomi, Marco, Brachet, Cécile, Broersen, Leonie L.H.A., Claahsen-van der Grinten, Hedi H.L., Dessens, Arianne A.B., Gawlik, Aneta Monika A., Gravholt, Claus C.H., Juul, Anders, Krausz, Csilla, Raivio, Taneli, Smyth, Arlene, Touraine, Phillipe, Vitali, Diana, and Dekkers, Olaf Matthijs

Abstract

An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development and Evaluation system. If the evidence was insufficient or lacking, then the conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on the induction of puberty with follicle-stimulation hormone and human chorionic gonadotrophin in hypogonadotropic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommends that pubertal induction or sex hormone replacement to sustain puberty should be cared for by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualised but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

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