Ann Acad Med Singap
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Ann Acad Med Singap · Dec 2008
A multidisciplinary approach to paediatric hearing loss: programme at the centre for hearing intervention and language development, National University Hospital, Singapore.
The objective is to describe the multidisciplinary management programme at the National University Hospital (NUH) in Singapore for children with hearing impairment (HI). Over 99.95% of babies born at NUH have hearing tested with both otoacoustic emission and automated auditory brainstem response tests by 6 weeks of age. The referral rate to Otolaryngology is 0.5%. ⋯ Other investigations are directed by history and clinical examination. There is now a very wide range of increasingly sophisticated medication, neuro-otologic external, middle and inner ear surgery, hearing aids, middle ear implants and cochlear implants available to improve hearing. A multidisciplinary team from neonatology, paediatrics, otolaryngology, audiology, auditory verbal and speech therapy, ophthalmology, radiology, and psychology working closely with the child, family and schools is needed to develop a cost-effective and comprehensive management programme for paediatric HI.
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Ann Acad Med Singap · Dec 2008
A systems approach to teach core topics across graduate medical education programmes.
Core curricula including Ethics, Medico-legal issues, Socioeconomics, and Quality Improvement (QI) are relevant and significant for graduate medical education programmes, regardless of specialty. A lack of faculty expertise in these content areas is a frequently cited concern among specialty programmes in graduate medical education. We report the results of an institutional systems-approach to assist this challenge. Our institution has 86 post-graduate residency and fellowship training programmes serving 1068 learners. Directors of these programmes expressed the need for a centralised approach to teach learners about insurance systems and the basics of QI. ⋯ Systems-wide didactic sessions for learners of different residencies has several advantages including the efficient use of content experts, prevention of resource burnout, and cost effectiveness. This strategy may also assist programmes directors in meeting external accreditation requirements.
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Ann Acad Med Singap · Dec 2008
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years.
A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. Hyperphenylalaninemia (HPA) results from a phenylalanine hydroxylase (PAH) enzyme deficiency or a deficiency of its cofactor, tetrahydrobiopterin (BH4). BH4 can normalize blood phenylalanine levels in BH4 deficiency, but typically not in PKU. However, since 1999 it has been reported that many HPA patients (serum phenylalanine <20 mg/dL) showed a gradual decrease of serum phenylalanine levels after 24 hours from BH4 loading. The BH4 responsiveness seems to be regulated in mild PKU by PAH mutations, and affected by the BH4 dose and administration period. ⋯ A total of 31 patients was detected in the past 10 years, and the incidence detected using the provisional diagnostic criteria had increased to 25% among PAH deficient patients. BH4 treatment for BH4-responsive mild PKU is a new and effective pharmacotherapy, which replaces or liberalises the phenylalanine-restricted diets for a considerable number of mild PKU patients.
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Ann Acad Med Singap · Dec 2008
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.
This study was to investigate the current status of neonatal screening in China, to further clarify the incidences of hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH). From 2000 to 2007, a total of 17,961,826 newborns had been screened for HPA and 1527 cases were detected, giving a HPA prevalence of 1:11,763. At the same time, 18,284,745 newborns had also been tested for CH, with 8918 cases being detected (1:2050). ⋯ The overall prevalence of an inborn errors of metabolism identified was 1 in 5800 healthy newborns, with hyperphenylalaninemia being the most common. Neonatal screening had developed rapidly in China in recent years, and a pilot study using tandem mass spectrometry has been started. The biggest challenge is still to increase coverage to the entire country, especially in the mid-western area.
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Escalating healthcare costs in Singapore have produced a significant movement of patients into ambulatory care, and the consequent dearth of clinical teaching materials. This deficiency has likewise prompted the creation of ambulatory teaching clinics and the use of standardised patients and simulators. In the last few decades, educators have utilised digital technology, for instance, digitally recorded heart and breath sounds, and digitised video vignettes, in medical education. We describe several pedagogical initiatives that we have undertaken at our university school of medicine.