Lucy Shapiro
Queen Mary University of London
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Featured researches published by Lucy Shapiro.
Clinical Endocrinology | 2017
Nicola Tufton; Lucy Shapiro; Umasuthan Srirangalingam; Polly Richards; Anju Sahdev; V.K. Ajith Kumar; Lorraine McAndrew; Lee Martin; Daniel M. Berney; John P. Monson; Shern L. Chew; Mona Waterhouse; Maralyn Druce; Márta Korbonits; Karl Metcalfe; William Drake; Helen L. Storr
For ‘asymptomatic carriers’ of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers.
European Journal of Endocrinology | 2017
Lucy Shapiro; Sumana Chatterjee; Dina G Ramadan; Kate Davies; Martin O. Savage; Louise A. Metherell; Helen L. Storr
BACKGROUND GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis. 107 (96 GHI, 88 probands; 11 IGF-1 insensitivity, 9 probands) underwent CGS. WES was performed in those with no defined genetic aetiology following CGS. RESULTS A genetic diagnosis was discovered 38/107 (36%) patients (32% probands) by CGS. WES revealed 11 patients with genetic variants in genes known to cause short stature. A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). WES also identified homozygous putative variants in FANCA and PHKB in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect. CONCLUSIONS Comprehensive genetic testing confirms the genetic heterogeneity of GH/IGF-1 insensitivity and successfully identified the genetic aetiology in a significant proportion of cases. WES is rapid and may isolate genetic variants that have been missed by traditional clinically driven genetic testing. This emphasises the benefits of specialist diagnostic centres.
Hormone Research in Paediatrics | 2016
Ahmad R. Ramadan; Said M. Shawar; Manal A. Alghamdi; William Drake; Ashley B. Grossman; Martin O. Savage; Helen L. Storr; Lucy Shapiro; Shezan Elahi; Fiona Riddoch; L. Perry; Lee Martin; John P. Monson; Rasha T. Hamza; Amel A. Elfaramawy; Nermine H. Mahmoud; Pamela Fischer-Posovszky; Primoz Kotnik; Tadej Battelino; Valerio Nobili; Stefano Cianfarani; Martin Wabitsch; Julian Roos; Elena Inzaghi; Francesco Massart; Mario Miccoli; Silvano Bertelloni; Hanna Borysewicz-Sanczyk; Dziecioł J; Beata Sawicka
Paediatric Endocrinology, under the leaderships of Lawson Wilkins in the US and of Andrea Prader in Europe, started to take shape as a subspecialty in the 1960s. Since that time, paediatric endocrinology has developed at a tremendous speed, especially during the last 30 years, in line with increasing knowledge in the field of genetics and other basic sciences, as well as improved medications and technical facilities. Endocrine conditions encountered in childhood are diverse and show a wide spectrum that is in many aspects substantially different from endocrine diseases in adults and the elderly. Children are simply not little adults. Handling of paediatric endocrine disorders requires the special attention of medical specialists with significant background training in paediatrics, to understand all aspects of human growth and development, along with specialised training in paediatric endocrinology. Developmental issues, including sex differentiation, body growth, skeletal development, pubertal maturation, and neuropsychological development from the intrauterine period to adolescence and young adulthood, are specific paediatric issues that cannot be fully understood and managed without paediatric training as the basic medical background. Recognising, classifying, diagnosing, and managing disorders of growth and development are specific tasks for fully trained paediatric endocrinologists. At the European Academy of Paediatrics (EAP), a subsection of the European Union of Medical Specialists (UEMS; formerly CESP), each paediatric subspecialty is represented by a liaison officer within the Tertiary Care Working Group (TCWG). The EAP has its own legislation/constitution (Belgian/ EU law) representing the central unifying platform for paediatric training in Europe. One of the major goals of the liaison officers is to update the current syllabus and accreditation procedures for their subspecialty, aiming at harmonisation of paediatric training throughout Europe. ESPE has recently, in 2014, revised its training program and this was approved by the General AsPublished online: July 6, 2016 HORMONE RESEARCH IN PÆDIATRICS
European Journal of Endocrinology | 2018
Sumana Chatterjee; Lucy Shapiro; Stephen Rose; Talat Mushtaq; Peter Clayton; Svetlana Ten; Amrit Bhangoo; Uma Kumbattae; Renuka Dias; Martin O. Savage; Louise A. Metherell; Helen L. Storr
BACKGROUND Patients with homozygous intronic pseudoexon GH receptor (GHR) mutations (6Ψ) have growth hormone insensitivity (GHI) (growth failure, IGF1 deficiency and normal/elevated serum GH). We report 9 patients in addition to previously described 11 GHR 6Ψ patients and their responses to rhIGF1 therapy. METHODS 20 patients (12 males, 11 families, mean age 4.0 ± 2.2 years) were diagnosed genetically in our centre. Phenotypic data and responses to rhIGF1 treatment were provided by referring clinicians. Continuous parametric variables were compared using Student t-test or ANOVA. RESULTS 10/20 (50%) had typical facial features of GHI, 19/20 (95%) from consanguineous families and 18/20 (90%) of Pakistani origin. At diagnosis, mean height SDS: -4.1 ± 0.95, IGF1 SDS: -2.8 ± 1.4; IGFBP3 SDS: -3.0 ± 2.1 and mean basal and peak GH levels: 11.9 µg/L and 32.9 µg/L, respectively. 1/12 who had IGF1 generation test, responded (IGF1: 132-255 ng/mL). 15/20 (75%; 11M) received rhIGF1 (mean dose: 114 µg/kg twice daily, mean duration: 5.3 ± 2.5 years). Mean baseline height velocity of 4.7 ± 1.1 cm/year increased to 7.4 ± 1.8 cm/year (P = 0.001) during year 1 of therapy. Year 3 mean height SDS (-3.2 ± 1.0) was higher than pre-treatment height SDS (-4.3 ± 0.8) (P = 0.03). Mean cumulative increase in height SDS after year 5 was 1.4 ± 0.9. Difference between target height (TH) SDS and adult or latest height SDS was less than that of TH SDS and pre-treatment height SDS (2.1 ± 1.2 vs 3.0 ± 0.8; P = 0.02). CONCLUSION In addition to phenotypic heterogeneity in the cohort, there was mismatch between clinical and biochemical features in individual patients with 6Ψ GHR mutations. rhIGF1 treatment improved height outcomes.
45th Meeting of the British Society for Paediatric Endocrinology and Diabetes | 2017
Sumana Chatterjee; Stephen Rose; Talat Mushtaq; Peter Clayton; Svetlana Ten; Amrit Bhangoo; Uma Kumbattae; Renuka Dias; Lucy Shapiro; Louise Metherell; Martin O Savage; Helen L. Storr
Hormone Research in Paediatrics | 2016
Lucy Shapiro; Shezan Elahi; Fiona Riddoch; L. Perry; Lee Martin; John P. Monson; William Drake; Ashley B. Grossman; Martin O. Savage; Helen L. Storr
55th Annual ESPE | 2016
Lucy Shapiro; Martin O. Savage; Kate Davies; Lou Metherell; Helen L. Storr
44th Meeting of the British Society for Paediatric Endocrinology and Diabetes | 2016
Sumana Chatterjee; Lucy Shapiro; Kate Davies; Martin O. Savage; Louise A. Metherell; Helen L. Storr
Archive | 2015
Lucy Shapiro; Umasuthan Srirangalingam; Lorraine McAndrew; Lee Martin; Nicola Tufton; Ajith Kumar; William Drake; Helen L. Storr
Archive | 2015
Lucy Shapiro; Shezan Elahi; Joe Baliey; Les Perry; Lee Martin; Ashley Grossman; John P. Monson; William Drake; Martin O Savage; Helen L. Storr