Endocrine Abstracts

Contents

• 45th Annual Meeting of the British Society of Paediatric Endocrinology and Diabetes 2017
• • CME Training Day Abstracts
  • • Congenital adrenal hyperplasia - antenatal and neonatal management

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    • Hypoglycaemic disorders in Neonates & Children

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    • Glucocorticoid therapy and adrenal suppression

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    • Thyrotoxicosis - diagnosis and management

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    • An approach to investigation and management of hypo and hypercalcemia

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    • Precocious puberty and its variants

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    • Insulin pumps and CGMS - what's new?

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• Main Symposia
• • Endocrine Track 1: Symposium 1
  • • Newborn screening for congenital hypothyroidism: performance and outcomes of the UK programme.

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    • Congenital hypothyroidism - lessons from a tertiary service

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    • Subclinical hypothyroidism - lessons from clinical studies in adults

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  • Endocrine Track 1: Symposium 2
  • • Abstract unavailable

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    • APS1 - an expanding disease spectrum

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  • Diabetes Track 1: Symposium 3
  • • Nephropathy - What have we learned from AdDIT?

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    • Insulin Pump Therapy: What is the Evidence?

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  • Diabetes Track 1: Symposium 4
  • • Abstract unavailable

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    • Severe Insulin Resistance: A Practical Approach

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    • Diabetes and technology. Current state of the art and future prospects

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• Diabetes Professionals Sessions
• • Diabetes professional day: Session 1
  • • Abstract unavailable

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    • Things I have tried to aid engagement with Young People

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    • Sex, contraception and pregnancy

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  • Diabetes professional day: Session 2
  • • How to transition - Lessons from a longitudinal study

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    • Aids to correct genetic diagnosis in MODY: being smarter with laboratory medicine

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  • Diabetes professional day: Session 3
  • • Type 1 Kidz - Does peer support & education really help?

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    • Diabetes and eating disorders

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    • Obesity, diabetes and metabolic syndrome

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  • Diabetes professional day: Session 4
  • • Abstract unavailable

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• Endocrine Nurse Session
• • (1)
  • • Skeletal dysplasias-diagnosis, management and prospects for future therapies

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    • Neuroscience, neuroendocrinology and the psychology of obesity: Should you 'go with your gut' or is it 'mind over matter'?

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    • Long term endocrine and metabolic consequences in survivors of childhood leukaemia

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• Meet the Expert Sessions
• • (1)
  • • Hypogonadism: from sex steroid replacement to options for fertility

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• Oral Communications
• • Oral Communications 1
  • • Dexamethasone for the treatment of 11-beta-hydroxysteroid-dehydrogenase Type 2 deficiency treatment in an adolescent

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    • Neonatal hypoglycaemia: missed opportunities for detecting hyperinsulinism

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  • Oral Communications 2
  • • Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity

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    • Evolving primary adrenal insufficiency masked by adrenal suppression from long-term steroid treatment

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  • Oral Communications 3
  • • Manifestation of hormone resistance depends on the type of inheritance in Albright's Hereditary Osteodystrophy

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    • A novel syndrome of nephrogenic syndrome of inappropriate antidiuresis, precocious puberty, parathyroid insensitivity associated with a novel GNAS mutation, p.F376V

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  • Oral Communications 4
  • • Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development

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    • Cumulative radiation exposure from imaging and associated lifetime cancer risk in children with osteogenesis imperfecta

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    • Novel FOXA2 mutation causes hyperinsulinism, hypopituitarism with craniofacial dysmorphism and endoderm-derived organ abnormalities

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    • The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism

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    • Denosumab related serious adverse effects in adolescents with giant cell tumour of bone:osteonecrosis of the jaw and rebound hypercalcaemia

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    • Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia type 1

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    • Adverse effects of delayed induction of puberty in girls Turner syndrome: Turner Syndrome Life Course Project

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    • Impact of risk factors for Fetal Growth Restriction (FGR) on intrauterine growth and birthweight

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  • Oral Communications 5
  • • New insights into the preoperative localisation of corticotroph adenomas in paediatric Cushing's disease (CD)

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    • The clinical and molecular spectrum associated with obesity-associated GNAS1 mutations

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    • Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology

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    • Characterisation of skeletal developmental in mouse models of Duchenne Muscular Dystrophy

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    • Uterine development: the effect of induction of puberty with oestrogen in primary Amenorrhoea

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    • Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations

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    • The Phenotyping of Overgrowth (POD) Study: a novel 'no win, no fee' model for translating research findings into clinical diagnoses

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    • Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus

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    • Adult height in patients with testotoxicosis

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  • Oral Communications 6
  • • Freestyle flash glucose monitoring and structured education improve Hba1c and quality of life in children with Type 1 diabetes mellitus

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    • School holidays: are they also a holiday from diabetes control?

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    • Bite size educational programme in clinic

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  • Oral Communications 7
  • • JUMP: Maternal family history of diabetes and non-white ethnicity adversely affects beta cell response in young people with Type 2 Diabetes

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    • Use of human pluripotent stem cells to model monogenic diabetes

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    • Level of WFS1 protein expression correlates with clinical progression of optic atrophy in wolfram syndrome patients

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    • Effect of a reduced fluid replacement regimen on resolution of diabetic ketoacidosis in children:comparison of BSPED 2015 and 2009 guidelines

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    • Service satisfaction, mental wellbeing and clinical progression in young people with diabetes in transition from child to adult services

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    • Single-centre experience of bariatric surgery in adolescents with significant obesity

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    • Role of Degludec in improving diabetes outcomes in young people - An observational study from Young Diabetes Connections (YDC) Network, London

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    • Out of hours telephone advice service improves emergency department attendances for diabetes related complications

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  • Oral Communications 8
  • • Hydrocortisone tablets: human factors in manipulation and their impact on dosing accuracy

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    • Assessment of adrenal function and recovery of HPA axis in children with chronic asthma assessed by LDSST

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    • Parent reported outcomes in conditions affecting sex development

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• Poster Presentations
• • Thyroid
  • • Relationship between the level of trace elements and growth in school children group of 6 to 12 ages with goitre

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    • Radioactive Iodine therapy for the management of hyperthyroidism in children and adolescents

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    • Long-term follow-up of Grave's disease in Adolescents: a 10 year study from a single UK tertiary centre

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    • Double Trouble in a case of iatrogenic induced hyperthyroidism

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    • Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

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    • Routine checking of TSH-receptor Antibodies in pregnancy to reduce postnatal length of stay

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  • Bone
  • • Early hypocalcaemia in neonates associated with vitamin D deficiency

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    • Antenatal diagnosis in osteogenesis imperfecta needs more than a gennotype

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    • A cause of severe hypercalcaemia: overdose or hypersensitivity to vitamin D?

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  • Adrenal
  • • An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings

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    • A case report of functioning adrenocortical tumor in a female child

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    • Could this be Adrenal Crisis in Retrospect? - Acute Cardiovascular Collapse in a 9-Year-Old Girl

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    • Two neonates with foetal adrenal haemorrhage in a tertiary care centre

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    • Cortisol or NOT

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  • Gonadal, DSD and reproduction
  • • Consensus for UK principles of management of adolescents and infants with Disorders of Sex Development (DSD)

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    • Using salivary testosterone measurements to assess androgen deficiency in adults with Duchenne muscular dystrophy (DMD)

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    • Turner syndrome transition - audit of paediatric clinic, RHC Glasgow

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    • Single centre experience of testosterone therapy for boys with delayed puberty

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  • Miscellaneous/other
  • • Calcium/calmodulin dependent protein kinase 2 (CaMKK2) mutation - a novel genetic cause of congenital hyperinsulinism

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    • Blood pressure monitoring and management in young girls with turner syndrome

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    • Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

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    • Exploring the growth and nutritional status in children with Prader-Willi syndrome

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    • Using CRISPR/Cas9 gene editing to study molecular mechanisms of congenital hyperinsulinism

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    • Albright's Hereditary Osteodystrophy associated with resistance to insulin and thyroid hormone in three male siblings

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    • Is there an association between endocrine conditions, including growth hormone deficiency, and Chiari-1 Malformation? A retrospective single centre study

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    • Introducing a patient held record in a turner transition clinic, RHC Glasgow

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    • Bisphosphonate therapy in Williams-Beuren syndrome: case series

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    • Audit of the management of patients with Turner's syndrome in Northern Ireland

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    • Early puberty in Klinefelter syndrome

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    • Cutaneous rash mimicking acanthosis nigricans in a child with type 1 diabetes mellitus

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    • When feeding becomes excessive! An unusual case of psychogenic polydipsia

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    • Intrauterine growth restriction as a presentation of 17q12 deletion

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    • Post-prandial hyerinsulinaemic hypoglycaemia post-esophageal surgery in children

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    • Quantification of appetite-regulating hormones in hypothalamic and simple obesity

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  • Pituitary and growth
  • • Congenital hypopituitarism and hyperinsulinaemic hypoglycaemia: a challenging association

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    • Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment

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    • Can the TSH index be used as a predictor of central hypothyroidism in children?

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    • UK Consensus Statements for the diagnosis of growth hormone deficiency (GHD)

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    • ACTH deficiency and potential for reversibility in children and young people (CYP) with craniopharyngioma

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    • Height as a clinical biomarker of disease burden in adult mitochondrial disease

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    • SOX3 gene duplication (OMIM 313430) associated with midline CNS malformations, hypopituitarism and neurodevelopmental abnormalities: 3 unrelated cases

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    • Changing patterns of growth in children with prader-willi syndrome

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    • Growth hormone secreting adenomas and the challenges of treatment in children

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    • Association between congenital hypopituitarism and agenesis of the internal carotid artery

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    • Frequency of cranial MRI abnormalities in isolated growth hormone deficiency over a 20-year period

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    • Growth hormone use in prader-willi syndrome - Experience of a dedicated paediatric clinic

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    • Comparison of insulin tolerance test to arginine test for the diagnosis of growth hormone deficiency in children

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    • Siblings with 3-M Syndrome show good response to Growth Hormone (GH) therapy over a 4 year follow-up growth data

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    • Nurses' viewpoints on growth hormone delivery devices

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    • IGF-1 titration of GH in Turner syndrome

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    • Growth hormone treatment in a regional centre: licensed and unlicensed indications

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    • An audit assessing the monitoring of sleep disordered breathing in children on GH therapy with Prader Willi syndrome

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    • Long-term unidentified complication of IGF-I treatment: Pulmoner hypertension

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    • Embedding electronic growth charts into clinical practice at a children's hospital

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    • Analysis of UK patients in PATRO children: a non-interventional study of the long-term safety and efficacy of Omnitrope in children

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    • Growth hormone treatment in children: an audit of compliance with NICE Guidance

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    • Improvement in motor function after growth hormone replacement in children with growth hormone deficiency and developmental delay

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    • A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome

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  • Diabetes
  • • Serum leptin levels in children with diabetes type 1 and its relation with diabetic nephropathy and retinopathy

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    • How effective is stabilisation at reducing HbA1c levels in children with T1DM on the high HbA1c pathway in Nottingham?

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    • Glycaemic targets are achievable in children presenting in diabetic ketoacidosis: 6 month outcomes

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    • Hyperinsulinism Hyperammonemia (HI/HA) syndrome due to GLUD1 mutation: Phenotypic Variations Ranging from Late Presentation to Spontaneous Resolution

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    • Quality of life outcomes and glycaemic control in a paediatric diabetes population since the introduction of the Best Practice Tariff

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    • Clinical implications of changes to fluid therapy in 2015 BSPED DKA guideline - a comparative audit, pre and post guideline implementation.

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    • Siblings with monogenetic ABCC8 diabetes - phenotypic variability and implications

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    • Review of diabetes antibody profile in children and young people with diabetes

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    • A review of patients not carbohydrate counting in a Paediatric Diabetes Clinic

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    • Does maximising the use of bolus calculator glucose meters improves glycaemic control in children and adolescents with type 1 diabetes?

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    • Patient centred multidisciplinary approach to diabetes education, using puppet making and film skills to facilitate learning

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    • Tackling the challenge of training and keeping paediatric doctors up-to-date in Type 1 diabetes following recent service improvements

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    • Safeguarding intervention and resolution of type 2 diabetes mellitus

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    • Carbohydrate counting in children and young people with type 1 diabetes - perceptions of healthcare professionals

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    • Deliberations and considerations before reaching a diagnosis of sulphonylurea overdose in children

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    • Longitudinal audit of diabetes control with insulin pump therapy over seven years of treatment at Brighton - interim results

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    • Care of children with type i diabetes (TID) whilst in school

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    • Email? Nah! Just send me a letter Doc. Or may be a text message

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    • Understanding young people with diabetes: using experience based co-design to provide a patient-centred Diabetes Transition Service

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    • School based management of type 1 diabetes in Northern Ireland: A parent's perception

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    • Acute treatment induced diabetic neuropathy in a 15 year old boy

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    • Data analysis of the paediatric diabetes out of hours advice service - an 8 year review

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    • Introduction of school-based diabetes clinics: QI project to engage frequent non-attenders and improve young people's self-management

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    • Effectiveness of education programmes in type 1 diabetes for children and parents, comparing multiple daily injection and insulin pump groups

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    • Differences in HbA1c among different ethnicities

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    • Short-term use of the flash glucose monitoring system increases insulin bolusing and self-confidence in paediatric Type 1 diabetes

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    • An audit of our adherence to BSPED/ISPAD guidelines in the management of DM in a Secondary Level Irish Hospital

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    • A case of learning difficulties, dysmorphic features, Type 2 diabetes, ulcerative colitis and suspected Albright osteodystrophy

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    • A toolbox of interventions to optimise age appropriate diabetes self-management: Inclusion of both face to face and digital solutions?

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    • Annual diabetes audit within BHSCT 2016 - a comparison

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    • Efficacy of Degludec in control of HbA1c in children with type 1 diabetes

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    • Description of the prevalence, demographics and service provision for children with autism or epilepsy in our type 1 diabetes clinic

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    • Transitional care pathway for diabetes at Darent Valley Hospital, Dartford

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    • Use of Insulin Degludec in adolescent paediatric patients with Type 1 Diabetes Mellitus

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    • The transition of care from paediatric to adult services in diabetes

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  • Obesity
  • • An audit of paediatric obesity in secondary care

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