Page 203 - HA Convention 2015

Corporate Scholarship Presentations

CS2.1 Paediatric Services 10:45 Room 228

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways Tuesday, 19 May
Poon GWK
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong

Inborn errors of metabolism (IEM) are a group of rare congenital disorders of metabolism caused by deficiency of a catalytic
enzyme or transport protein. This results in an accumulation of toxic substances or a deficiency of substances needed for
normal body function. The field of IEM has now rapidly expanded to include disorders of the biosynthesis and breakdown
of essential complex molecules and neurometabolic diseases. IEM are individually rare, but are increasingly recognised as
important causes of acutely life-threatening diseases that can present at any age from birth, through childhood to adulthood.
Early diagnosis especially detected at the pre-symptomatic phase by newborn screening, and timely therapeutic intervention
may prevent acute catastrophic event and chronic irreversible damage in the affected individual.

The Department of Molecular and Human Genetics of Baylor College of Medicine (BCM) in Houston is one of the world’s
leaders in the field of medical genetics and genomics. Amongst genetic departments in USA, the department at BCM
ranks first in funding from the National Institute of Health. As the largest clinical genetics programme in USA, BCM offers
a comprehensive programme for all genetic services including prenatal, pediatric, and adult medical genetics care, and
cutting edge genetic diagnostic services to all the affiliated hospitals within the world-renowned Texas Medical Center. The
clinical attachment at the Department of Molecular and Human Genetics at BCM provided an outstanding education and
training opportunity in clinical biochemical genetics with internationally recognised professors, focusing on the diagnosis,
management and treatment of individuals with metabolic diseases. The clinical attachment also included a visit to The Baylor
Miraca Genetics Laboratories, which provide state-of-the-art comprehensive diagnostic genetic services to the medical
genetics community. The Texas Department of State Health Service (DSHS) Newborn Screening (NBS) Programme in Austin
was also visited. Currently, in Texas, every newborn will be screened twice, at birth and within two weeks after birth, unless
parents object for religious reasons. With an annual birth rate of around 380,000 live births in Texas and operating six days
per week, the Texas DSHS is screening more than 2,400 specimens per work day, making it the largest test volume NBS
programme in the world.

This clinical attachment has greatly enhanced our international relationship with this esteemed medical institution. It will also
facilitate the Pilot Study of Newborn Screening for Inborn Errors of Metabolism as stipulated by the 2015 Policy Address.

CS2.2 Paediatric Services 10:45 Room 228

Centre of Excellence in Paediatrics (CEP) Overseas Training Programme: Paediatric Urology HOSPITAL AUTHORITY CONVENTION 2015
Pang KKY
Department of Surgery, Prince of Wales Hospital, Hong Kong

As a specialist in paediatric surgery subspecialising in paediatric urology, the speaker joined the overseas elective training
funded by the CEP Overseas Training Programme 2014/15. She joined as a clinical observer at Children’s Medical Center
Dallas, University of Texas Southwestern Medical Center. In the two-month period, she attached to the Department of
Urology in Children’s Medical Center, which was previously headed by Professor Warren Snodgrass. The attachment
was from February to April 2014, during which she had the chance to attend the Live Surgery Workshop and Webinar for
Hypospadias Repair, an annual event organised by the Children’s Medical Center.

Professor Snodgrass is well known for modifying tubularised plate urethroplasty, which has now become the most
widely used method for hypospadias repair. His frequently quoted publications proved his effort in continual review and
improvement in the results of hypospadias surgery. On top of his superior results in primary hypospadias repair, he received
regular referrals for re-operative hypospadias. He attained good outcome despite the complexity of the problem presented
to him. It was an invaluable experience for Kristine to understand, with a first-hand experience, the surgical techniques and
decision making in the management of hypospadias. During her stay in Children’s Medical Center, she closely observed the
operations and other clinical duties of Professor Snodgrass, attended the team rounds and participated in all the clinical and
academic meetings.

Apart from Professor Snodgrass’ office, Kristine also attached to the operations and clinical duties of other team members,
including Dr Linda Baker, with her vast experience in the management of disorder of sexual development; Dr Patricio
Gargollo, with his expertise in robotic paediatric urology; Dr Micah Jacobs with his continence surgery and management of
neurogenic bladderbowel dysfunction; and Dr Nicol Bush in repair of proximal hypospadias.

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