hrp0095p1-118 | Growth and Syndromes | ESPE2022

A background review of several generic patient-reported outcome and clinician-reported outcome measures: Selecting measures for further evaluation in a qualitative study in achondroplasia.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Cho Terry , Lee Anne , H. Colwell Hilary , Rogoff Daniela , Muslimova Elena

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

hrp0092fc4.6 | Fat Metabolism and Obesity Session | ESPE2019

Brain Satiety Responses to a Meal in Children Before and After Weight Management Intervention

Roth Christian L. , Melhorn Susan , Elfers Clinton , Rosalynn Mary , Rowland Maya , Grabowski Thomas , Saelens Brian , Schur Ellen A.

Family-based behavioral treatment (FBT) is the recommended intervention for children with obesity (OB). However, there is a large variability in short- and long-term treatment response and mechanisms for unsuccessful treatment outcomes are not understood. We studied brain regions involved in satiety processing in 9-11-year-old children with obesity (OB, n=54) and children with healthy weight (HW, n=22). Subjects underwent a functional magnetic resonan...

hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0082p3-d3-686 | Bone (2) | ESPE2014

Bone Health in a Cohort of Irish Spinal Muscular Atrophy Patients

Mc Sweeney Niamh , Mc Kenna Malachi , Webb David , van der Kamp Susan , Kilbane Mark , O' Keane Myra , Lynch Bryan

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

hrp0084fc3.1 | Diabetes | ESPE2015

RNA-Based MAFA Over-Expression is Sufficient to Drive Human Pancreatic Duct-Derived Cells Toward a β-Cell-Like Phenotype

Corritore Elisa , Dugnani Erica , Pasquale Valentina , Piemonti Lorenzo , Vetere Amedeo , Bonner-Weir Susan , Sokal Etienne M , Lysy Philippe A

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

hrp0089p3-p393 | Thyroid P3 | ESPE2018

An Assay Led Astray: A Curious Case of Biotin-Induced Hyperthyroidism

Taylor-Miller Tashunka , Alexander Ashely , Yen Tina , O'Connell Michele

The third child to Burmese parents is born at term in good condition in a suburban hospital. The baby was breast fed from birth and had a normal physical examination without dysmorphic features or palpable liver edge. The parents have had two previous live male births at term, that developed severe jaundice and seizure in the first 24 hours of life; both passed away on day 3 of life. Due to concerns of possible metabolic condition, the baby was commenced on prophylactic photot...

hrp0086fc13.3 | Management of Obesity | ESPE2016

Hypothalamic Gliosis in Obese Children and Adolescents

Sewaybricker Leticia E , Cendes Fernando , Schur Ellen A , Melhorn Susan J , Barbosa Silene M , Mendes Roberto T , Velloso Licio A , Guerra-Junior Gil

Background: Obesity is a persistent disorder that almost universally recurs following treatment, suggesting a disruption on central nervous system control over energy homeostasis. Recent literature suggests that hypothalamic inflammation may have an important role on obesity pathogenesis. This inflammatory reaction, which histologically appears as a reactive gliosis, may be detected using magnetic resonance imaging (MRI), and has just been shown in rodent models and adults.</p...

hrp0082p2-d3-309 | Bone (2) | ESPE2014

Risedronate Use in Duchenne Muscular Dystrophy: a Pilot Randomised Control Trial

Mc Sweeney Niamh , Mc Kenna Malachi , van der Kamp Susan , Kilbane Mark , Mc Donnell Ciara , Murphy Nuala , Webb David , Lynch Bryan

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

hrp0082p3-d3-846 | Growth (2) | ESPE2014

Design and Recruitment of a Longitudinal Cohort Study of Growth and Puberty in Russian Boys

Sergeyev Oleg , Lam Thuy , Williams Paige L , Burns Jane S , Korrick Susan A , Hauser Russ , Revich Boris , Dikov Yury , Sergeyeva Lyubov , Lee Mary M

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

hrp0084p2-270 | Diabetes | ESPE2015

Growth and Endocrinopathy in Wolfram Syndrome: The Experience of a Nationally Commissioned Specialist Clinic

Kershaw Melanie , Gleeson Susan , Williams Denise , Gupta Rajat , Ainsworth John , Kulkarni Archana , McCarthy Liam , MacPherson Lesley , Bates Rachel , McGee Marie , Barrett Timothy G

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...