Singap Med J
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Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays. ⋯ We report the finding of a carrier of the F508del mutation of the CFTR gene in the Malay population. Our finding revealed that CF could also affect the Malay population. Larger studies are necessary to determine the exact gene frequency of this population.
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Cholestasis associated with long-term total parenteral nutrition (TPN) occurs commonly in very low birth weight (VLBW) infants. Indeed, the majority of infants with TPN-associated cholestasis (TPNAC) respond very well to TPN withdrawal and full enteral feeding, yet some of them do not respond and have the potential for development of intractable cholestasis. It has been demonstrated that ursodeoxycholic acid (UDCA) has beneficial effects in treating TPNAC in various age groups. Nevertheless, the clinical data of UDCA use in VLBW infants, the most vulnerable group, are limited. We report the results of administration of UDCA therapy to VLBW infants with intractable TPNAC. ⋯ Our series data suggest that UDCA is safe and may be a potential treatment for intractable TPNAC if used within two weeks after TPN withdrawal and full enteral feeding. Sepsis may alter the effectiveness of UDCA therapy.
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In Singapore, severe traumatic brain injury (TBI) continues to be a major public health problem and devastating condition, with significant mortality and morbidity. By understanding the incidence, prevalence and implications of severe TBI in Singapore, strategic plans to meet the unique needs of these patients in the local context may be developed. ⋯ Preventive measures targeting at these high-risk groups are important to reduce the incidence of severe TBI.
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Comparative Study Clinical Trial
Transhiatal versus transthoracic resection for oesophageal carcinoma in Yemen.
Cancer of the oesophagus is a major problem in Yemen, where most of the patients present with advanced disease. Curative oesophageal resection for carcinoma may be carried out by either the transhiatal or transthoracic technique. The aims of this study were to compare the morbidity, mortality, short term outcome and long term survival of the two techniques in the treatment of oesophageal carcinoma. ⋯ Transhiatal oesophagectomy was associated with a higher incidence of anastomotic complications and recurrent laryngeal nerve lesions, but there was no significant difference in the mortality between the two groups.
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Down syndrome was first described as Mongoloid children with European parentage. Although their facial features resemble Orientals or Asians, ocular findings have not been well-documented in Asians, especially Malaysians. Our aim was to identify the ocular findings of Malaysian children with Down syndrome. ⋯ Malaysian children with Down syndrome demonstrated high incidences of epicanthic fold, nystagmus, and strabismus, and absence of Brushfield spots or keratoconus, which are in contrast to the ocular findings in Caucasian patients with Down syndrome. Rare ocular findings, such as bilateral retinoblastoma and retinal detachment, were also observed but their association with Down syndrome is not well-established.