• Analytical Science and Technology
• /
• v.19 no.3
• /
• pp.244-254
• /
• 2006

Flame retardants are added to prevent catching fire and to slow down the burning process. PBDEs are known to affect thyroid hormones and hormone disruption. The aim of this study was to propose a manual for determination of PBDEs, and investigate the accumulation of PBDEs(BDE-28, 47, 99, 100, 153, 154 and 183) in fish&shellfish and human milk samples. Pre-treatment for PBDEs determination, alkali digestion and L-L(Liquid-Liquid) extraction method could be applied to fish and shellfish. When Multi-layer column was used for cleaning up the sample, 50 mL of hexane and 100 mL of hexane:dichloromethane(9:1) solutions were used for pre- and post-elution, respectively. Activated-carbon column was optimized by a 100 mL of hexane:dichloromethane(3:1). The result of fish, highest concentration was detected in flatfish, 890 pg/g(wet weight). The other side, lowest concentration was detected in pollack, 40 pg/g(wet weight). The result of breast milk, PBDEs was detected 2,580 and 3,600 pg/g(lipid weight) from breast milk of Seoul and Juju, respectively. BDE-153 and 183 were not detected in all samples. There was no difference in PBDEs level was not difference between first and second delivery. In this study, we could find that PBDEs level in Korea is lower than other countries.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.103-108
• /
• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.