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Case Studies

Case Study Authors

Alexander Jorge

Alexander Jorge

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Alicia A Romana

Alicia Romano

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Jovanna Dahlgren

Jovanna Dahlgren

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Chapter 1: Genetic diagnosis of Noonan syndrome
Alexander Jorge presents a patient in a clinical setting, and follows through to diagnosis, looking at growth pattern, differential diagnoses and genetic investigations.
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Chapter 2: Diagnosis of Noonan syndrome
Alicia Romano presents a patient in a clinical setting, focusing on phenotypic features on Noonan syndrome, leading to general and endocrine investigations to reach an accurate diagnosis.
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Chapter 3: Growth hormone treatment of Noonan syndrome
Jovanna Dahlgren presents a patient in a clinical setting, assessing the degree of short stature and growth pattern, and discussing appropriate GH therapy, therapeutic response and long-term outcome.
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Transcripts available in German, Spanish, French, Italian, Portuguese, Japanese, and Chinese (simplified).

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Participation in the case studies has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 1.0 European CME credits (ECMEC®). Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity. Accreditation no longer available

Educational Grant: This program is made possible thanks to an independent educational grant from Novo Nordisk A/S.

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Alexander Jorge

Associate Professor of Medicine at The University of São Paulo (USP), School of Medicine, Brazil

Alexander Jorge is a clinical endocrinologist as well as a translational researcher. He is a principal investigator at the Developmental Endocrinology Unit and Genetic Endocrinology Unit. Dr Jorge is an expert in growth disorders and has published more than 100 papers in various international scientific journals. He is responsible for molecular genetic investigation of several endocrine genetic disorders at the largest hospital in South America (Hospital das Clínicas de São Paulo). His research is centered on discovering and understanding the genetic mechanisms involved in monogenic endocrine diseases, in particular those associated with growth and development disorders.

Disclosures

Dr Alexander Jorge has received speaker fees from Merck KGAa Darmstadt Germany and Novo Nordisk in the past 12 months.

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Alicia A Romana

Associate Professor of Pediatrics, New York Medical College, Valhalla, NY, USA

Alicia A. Romano, MD, is a graduate of The State University of New York at Stony Brook School of Medicine. She completed her Pediatric Internship, Residency, and Pediatric Endocrine Fellowship at Schneider Children’s Hospital of the Long Island Jewish Medical Center in New York. Dr. Romano is currently Associate Professor of Pediatrics at New York Medical College where she has served as Director of Pediatric Endocrine Research and has clinical, teaching, research and administrative responsibilities as a Pediatric Endocrinologist with Boston Children’s Health Physicians.

Dr. Romano has a long-standing interest in and experience with growth in patients with Noonan syndrome and advocates for growth optimization in these children. She has published adult height outcomes in the one of the largest groups of individuals with Noonan syndrome treated with growth hormone. Dr. Romano served on the Medical Advisory Board of the Noonan Syndrome Support Group, and currently serves on the Medical Advisory Board of the Noonan Syndrome Foundation.

Disclosures

Dr Alicia Romano has received speaker and consultation fees from Novo Nordisk, Inc, and consultation fees from Aventis.

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Jovanna Dahlgren

Senior Consultant and Professor in Pediatrics, University of Gothenberg, Sweden

Jovanna Dahlgren is an expert in pediatric endocrinology, rare diseases and obesity. She is also director of the Department of Paediatrics at the University of Gothenburg and senior consultant at Queen Silvia Children’s Hospital. A Professor and MD, Dahglren is responsible for the Swedish National GH Registry and part of the steering committee of the National Centre of Competence for Rare Diseases. Her scientific field is in perinatal programming of endocrine homeostasis, growth disorders in children born SGA, preterm or with rare diseases and obesity.

Professor Dahlgren has published 110 peer-reviewed scientific works and several book chapters. She has supervised seven PhDs to dissertations in Gothenburg and at Karolinska Institute and currently has eight PhD students. She is principal investigator  for the Gothenburg arm of the AMOS studies evaluating the benefit of gastric bypass surgery in adolescents.

Disclosures

Professor Dahlgren has received grants/research support from Novo Nordisk and Pfizer. She has also received honoraria or consultation fees from Novo Nordisk, Pfizer, Sandoz, Merck and Ipsen.

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