• Journal of the Society of Cosmetic Scientists of Korea
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• v.31 no.2 s.51
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• pp.141-146
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• 2005

Unstable cosmetic active ingredients could rapidly break down in chemical and photochemical process. Therefore, it has become a very important issue to encapsulate active ingredient for the stabilization. 7-Dehydrocholesterol (7-DHC), a precursor of vitamin $D_3$, has been shown to increase levels of protein and mRNA for heat shock protein in normal human epidermal keratinocytes. However, topical dermal application of 7-DHC is restricted due to its poor solubility and chemical unstability. In this study, 7-DHC was incorporated into nano-emulsion (NE), solid lipid nano-particle (SLN), and chitosan coated solid lipid nano-particle (CASLN), respectively. In order to prepare NE and SLN dispersion, high-pressure homogenization at temperature above the melting point of lipid was used Hydrogenated lecithin and polysorbate 60 were used as stabilizer for NE and SLN. CASLN was prepared by high speed homogenizing after adding chitosan solution to the SLN dispersion and showed positively charged particle properties. Decomposition rate of 7-DHC in NE, SLN and CASLN was studied as a function of time at different temperature. Differential scanning calorimetry (DSC) and X-ray diffraction (XRD) studies were performed to characterize state of lipid modification. It appeared that CASLN is the most effective to stabilize 7-DHC and may be used for a useful topical dermal delivery system.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Korean Journal of Poultry Science
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• v.18 no.3
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• pp.161-166
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• 1991

This study was conducted to investigate the synthesis of previtamin D$_3$(PreD$_3$), lumisterol$_3$($L_3$) and vitamin $D_3$ ($D_3$) in dorsal skin of 8 week-old broiler chicks irradiated by UV light. The Hubbard line day-old broiler chicks were fed with vitamin D-depleted ration (or 3 weeks and with medium broiler diet for 5 weeks. The 3$\times$3cm area of dorsal skin was defeathered one day before the experiment. The 310nm UV light was utilized to irradiate the dorsal skin, which was separated into epidermis and dermis after irradiation. The irradiated epidermis was extracted with 60% ethyl acetate in n-hexane and PreD$_3$, $L_3$, D$_3$ and 7-dehydrocholesterol (7-DHC) were analyzed by HPLC. When UV light was treated for 0, 90 or 150min. the L$_3$ content in the separated epidermis was 219, 298 or 248ng/$\textrm{cm}^2$, respectively. The irradiation for 90min produced 79ng/$\textrm{cm}^2$ of L$_3$, and the synthesizing rate was 0.9ng/$\textrm{cm}^2$/min. The PreD$_3$ content was 23, 33 or 12ng/$\textrm{cm}^2$ when exposed for 0, 60 or 150min The 10ng/$\textrm{cm}^2$ of PreD$_3$ was produced for 60min. The D$_3$ was generated by 27ng/$\textrm{cm}^2$ when exposed for 90min. The 7-DHC contents were decreased gradually from initial 123 to 35ng/$\textrm{cm}^2$ when exposed for 150 min, showing the rate of disappearance as 0.6ng/$\textrm{cm}^2$/min.