Ann Acad Med Singap
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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 Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme.
We are living in a time of unprecedented increase in knowledge and rapidly changing technology. Such biotechnology especially when it involves human subjects raises complex ethical, legal, social and religious issues. The establishment of newborn screening programmes in developing countries poses major challenges as it competes with other health priorities like control of infectious diseases, malnutrition and immunization programmes. ⋯ However due to missing data links spanning several years, we were unable to calculate its true incidence during this period. In order to estimate the incidence of congenital hypothyroidism (CH) we reviewed in detail data over 10 months in 2008, a period where there was better compliance for repeat thyroid stimulating hormone (TSH) testing, and found 2 babies with CH. This gave an estimated incidence of 1 in 1600 live births.
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China has a large population with different levels of medical care among the eastern, central and western areas. The national universal newborn hearing screening (UNHS) programme was initiated in 1999 and then progressively implemented nationwide. A "National UNHS Experts Group" was set up, formulating the national UNHS administration rules and technological specifications. 3 March had been named as national "ear-care day" since 2000 and such social activities help make deafness prevention work more widely accepted. ⋯ The incidence of newborn bilateral hearing loss was 2.22 per 1000, and 2.74 per 1000 for unilateral hearing loss. Though UNHS have been carried out widely in the eastern parts of China, there are difficulties for its implementation in the western regions. Economic development and technical expertise are the main restricting factors.
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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.
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From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were analysed using tandem mass spectrometry. ⋯ Twenty-eight of the 168 patients (16.7%) recovered and led a normal life. The method of urine organic acid analysis by gas chromatography - mass spectrometry and blood acylcarnitines analysis by tandem mass spectrometry have been established and applied successfully in China, namely Beijing, Shanghai, Wuhan and Guangzhou. The prognoses of Chinese patients with organic acidurias have also improved significantly.