Karn Wejaphikul

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Sotos syndrome is a common genetic overgrowth syndrome caused by a mutation of the NSD1 gene, which is located at chromosome 5q35 and normally encodes a histone methyltransferase protein. The general characteristics of this syndrome include a characteristic facial appearance, developmental delay, and overgrowth, resulting in macrocephaly and tall stature.(More)
BACKGROUND Imatinib mesylate (IM) is a selective tyrosine kinase inhibitor and is approved for indefinite treatment of pediatric chronic myelogenous leukemia (CML). Potential side-effects regarding growth failure and bone metabolism have been reported but data are still scarce in pediatric CML. METHODS Six chronic-phase CML children on IM treatment with a(More)
Clinical case A 2-year-old, previously healthy girl presented with rapid weight gain for 5 months. She had Cushingoid appearance, acne, hirsutism, hypertension, and normal pre-pubertal female genitalia. Her weight was 16.9 kg (>97 percentile) and height was 85 cm (3 percentile). Serum cortisol levels revealed loss of diurnal variation (35.0 and 30.1 μg/ dl(More)
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