Caroline Brain
Great Ormond Street Hospital
GeneInternal medicineEndocrinologySurgeryCalcium-sensing receptorPsychologyDermatologyRetrospective cohort studyPediatricsRicketsThyroidectomyOsteopeniaPhosphateInsulin resistanceGender dysphoriaAcanthosis nigricansHydrocortisoneCushing syndromeEpidermolysis bullosaIn patientMutationGeneticsMedicineMissense mutationBiologyGastroenterology
49Publications
15H-index
1,051Citations
Publications 48
Newest
#1Mechteld C. de Jong (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 1
#1Mechteld C de Jong (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 1
Last. Tom R Kurzawinski (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 3
view all 21 authors...
AIM Differentiated thyroid cancer (DTC) in children and adolescents is rare and data about its presentation and management are not well known. The aim of this study was to provide evidence of the current practice in the United Kingdom before the launch of the Rare National Paediatric Endocrine Tumours Guidelines (to be published in 2020). METHODS Seventy-two children and adolescents with DTC (<18 years) who were treated at our institution between 2003 and 2018 were identified and their presentat...
3 CitationsSource
#1Mechteld C de Jong (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 1
#1Mechteld C. de Jong (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 1
Last. Tom R Kurzawinski (UCLH: University College London Hospitals NHS Foundation Trust)H-Index: 3
view all 10 authors...
BACKGROUND Parathyroid failure after total thyroidectomy is the commonest adverse event amongst both children and adults. The phenomenon of late recovery of parathyroid function, especially in young patients with persistent hypoparathyroidism, is not well understood. This study investigated differences in rates of parathyroid recovery in children and adults and factors influencing this. METHODS A joint dual-centre database of patients who underwent a total thyroidectomy between 1998 and 2018 was...
Source
#1Suma Uday (University of Birmingham)H-Index: 7
#2Sophia Sakka (Children's of Alabama)H-Index: 11
Last. Nick Shaw (University of Birmingham)H-Index: 25
view all 12 authors...
Summary Objectives Hypophosphataemic rickets (HR) is usually secondary to renal phosphate wasting but may occur secondary to reduced intake or absorption of phosphate. We describe a series of cases of HR associated with the use of Neocate®, an amino-acid based formula (AAF). Methods A retrospective review of cases with HR associated with AAF use presenting to centres across the United Kingdom. Results 10 cases were identified, over a 9 month period, all associated with Neocate® use. The age at p...
7 CitationsSource
#1Suma UdayH-Index: 7
#2Sophia SakkaH-Index: 11
Last. Nick ShawH-Index: 25
view all 12 authors...
Objectives Hypophosphataemic rickets (HR) is usually secondary to renal phosphate wasting but may occur secondary to reduced intake or absorption of phosphate. We describe a series of cases of HR associated with the use of Neocate®, an amino-acid based formula (AAF). Methods A retrospective review of cases with HR associated with AAF use presenting to centres across the United Kingdom. Results 10 cases were identified, over a 9 month period, all associated with Neocate®use. The age at presentati...
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#1Frederic Castinetti (French Institute of Health and Medical Research)H-Index: 35
#2Steven G. Waguespack (University of Texas MD Anderson Cancer Center)H-Index: 44
Last. Eric Baudin (Institut Gustave Roussy)H-Index: 92
view all 66 authors...
Summary Background Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. Methods This study was a retrospective,...
37 CitationsSource
#1Avinaash Maharaj (QMUL: Queen Mary University of London)H-Index: 4
#2Federica Buonocore (UCL: University College London)H-Index: 9
Last. Louise A. Metherell (QMUL: Queen Mary University of London)H-Index: 29
view all 37 authors...
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of unknown etiology from around the world and identified a heterozygous missense variant (rs6161, c.940G>A, p.Glu314Lys) in CYP11A1 in 19 individuals from 13 different families (allele frequency within undiagnosed PAI in our cohort, 0.102 vs 0.0026 in t...
9 CitationsSource
#1George PaltoglouH-Index: 9
#2Caroline BrainH-Index: 15
Last. Jeremy AllgroveH-Index: 14
view all 10 authors...
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#1Francesco Paolo Prete (GOSH: Great Ormond Street Hospital)H-Index: 11
#2T Abdel-Aziz (Alexandria University)H-Index: 1
Last. TR Kurzawinski (GOSH: Great Ormond Street Hospital)H-Index: 1
view all 5 authors...
BACKGROUND: In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established. METHODS: This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2 between 1995 and 2013 in the UK. Ameri...
13 CitationsSource
#1Benjamin JacobsH-Index: 6
#2Caroline BrainH-Index: 15
Last. M. Zulf MughalH-Index: 19
view all 7 authors...
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#1Sophia SakkaH-Index: 11
#2Suma UdayH-Index: 7
Last. Nick ShawH-Index: 31
view all 9 authors...
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