Singap Med J
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Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory difficulties. It is often fatal in the early life. ⋯ Molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.
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The Third National Health and Morbidity Survey Malaysia 2006 includes a nutritional status assessment of children. This study aimed to assess the inter- and intra-examiner reliability, the technical error of measurement and the validity of instruments for measuring weight, height and waist circumference. ⋯ The findings of this study suggest that weight, height and waist circumference measured in adults aged 18 years and above, using the respective above mentioned instruments, are reliable and valid for use in a community survey. Limiting the number of examiners, especially for waist circumference measurements, would yield a higher degree of reliability and validity.