When Common Complaints are the Signs of Lysosomal Storage Diseases
Session Format: Online Webinar. Language: English. Registration: Free
Presenter
AMEL KARAA, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical School.
Learning Objectives: (1) Understanding the signs and symptoms of lysosomal storage diseases. (2) Identifying the key diagnostic features of lysosomal storage diseases and differentiate them from more common diseases. (3) Understanding the ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.
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Spot the Early Signs of Mucopolysaccharidoses - One Disease with Many Faces
Session Format: Online Webinar. Language: English. Registration: Free
Presenter
Prof. SUSANNE KIRCHER, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria
Learning Objectives: (1) A short overview of the different types of mucopolysaccharidoses (2) How to recognise a young child with a mucopolysaccharidosis? (3) How can I get the diagnosis confirmed and why is this important for me as a pediatrician?
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When to Suspect Juvenile Idiopathic Arthritis & How to Recognise Conditions Resembling JIA
Session Format: Online Webinar ● Language: English ● Registration: Free
Presenter
Prof. ATHIMALAIPET RAMANAN, Consultant Paediatric Rheumatologist Bristol Royal Hospital for Children & Royal National Hospital for Rheumatic Diseases, Bath, and Professor of Paediatric Rheumatology, University of Bristol, UK
Learning Objectives: (1) When to suspect JIA and how to confirm suspicions (2) Misdiagnosis with MPSI and other conditions (3) Available treatments and the benefits of early and correct diagnosis
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Mucopolysaccharidoses: A Primer for Pediatricians
Session Format: Online Webinar ● Language: English ● Registration: Free
Presenter
Prof. JOSEPH MUENZER, MD, PhD, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, United States
Learning Objectives: (1) Explain why the MPS are progressive multi-system disorders (2) Describe the characteristic signs and symptoms of the MPS disorders (3) Describe the current treatment options for each MPS disorder
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Spotting the Signs of Inborn Errors of Metabolism in neonates and infants
Session Format: Online Webinar. Language: English. Registration: Free
Presenter
Prof. MARIA GIZEWSKA, Vice Head of the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Poland.
Learning Objectives: (1) How to undertake a comprehensive medical history of a child suspected for inborn errors of metabolism? (2) How to identify the early signs of inborn errors of metabolism in neonates and infants? (3) How to avoid common misdiagnosis and confusion with other conditions?
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Individuare i segni delle malattie da accumulo lisosomiale - Malattia di Gaucher e popolazione pediatrica
Session Format: Online Webinar ● Language: Italian ● Registration: Free
Presenter
GIOVANNI CIANA, Specialist in Pediatrics, Regional Coordination Center for Rare Diseases, “S. Maria Delle Misericordia” Hospital Udine, Italy
Learning Objectives: (1) Gaucher disease in the pediatric population: useful signs to suspect it and make an early diagnosis (2) Differential diagnosis of the 3 clinical phenotypes (3) When to start therapy
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Boli de stocare lizozomala fara incadrare diagnostica - Genetica clinică
Session Format: Online Webinar ● Language: Romanian ● Registration: Free
Presenter
VASILICA PLAIASU, Clinical Geneticist, Regional Center of Medical Genetics Bucharest, INSMC Alessandrescu-Rusescu, Pediatrics Department, Bucharest, Romania
Obiective de invatare: (1) Clasificarea bolilor de stocare lizozomala (2) Profilul clinic al bolilor de stocare lizozomala (3) Algoritmul specific pentru investigarea si diagnosticarea bolilor de stocare lizozomala; posibilitati de tratament (4) Cazuri rare selectate - scurte prezentari
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Spot the Early Signs - the Genetics of Neuromuscular Disorders
Session Format: Online Webinar ● Language: English ● Registration: Free
Presenter
FRANCESC PALAU, Director of the Institute for Pediatric Rare Diseases (IPER) and Head of the Genetics Department, Sant Joan de Déu Children's Hospital, CSIC Research Professor and Visiting Professor Pediatrics, University of Barcelona, Spain
Learning Objectives: (1) How to define the inheritance pattern of the neuromuscular disease, (2) How to guide genetic testing and diagnosis based in genomic approaches (3) How to offer genetic counselling to patients and parents
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The Pediatrician’s Role in Identifying and Understanding Gaucher Disease
Session Format: Online Webinar ● Language: English ● Registration: Free
Presenter
Prof. PRAMOD MISTRY, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment, United States
Learning Objectives: (1) A better understanding of the signs and symptoms of Gaucher disease. (2) Ability to identify the key diagnostic features of Gaucher disease. (3) Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.
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