Singap Med J
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Fragile X syndrome (FXS) is the most prevalent X-linked intellectual disability (ID) and a leading genetic cause of autism, characterised by cognitive and behavioural impairments. The hyperexpansion of a CGG repeat in the fragile X mental retardation 1 (FMR1) gene leads to abnormal hypermethylation, resulting in the lack or absence of its protein. Tools for establishing the diagnosis of FXS have been extensively developed, including assays based on triplet-primed polymerase chain reaction (TP-PCR) for detection and quantification of the CGG trinucleotide repeat expansion, as well as determination of the methylation status of the alleles. This study aimed to utilise a simple, quick and affordable method for high sensitivity and specificity screening and diagnosis of FXS in institutionalised individuals with ID. ⋯ Repeat expansion and methylation-specific TP-PCR is practical, effective and inexpensive for the diagnosis of FXS, especially in high-risk populations of individuals with ID of undetermined aetiology.
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Infantile haemangiomas (IH) are the most common vascular tumours in childhood. Over the past decade, treatment of IH has been revolutionised by the discovery of the effectiveness of beta-blockers in its treatment. We review our hospital's experience with oral propranolol in the treatment of IH in an Asian population. ⋯ Our study provides further evidence of the efficacy and safety of propranolol in the treatment of IH in an Asian population. Early treatment is recommended for optimal results.