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PHOX2B유전자의 27 다염기반복 돌연변이를 가진 Haddad증후군
김순주 ( Soon Ju Kim ),주연수 ( Yeon Soo Cho ),최윤정 ( Yun Jung Choi ),정재희 ( Jae Hee Chung ),정민호 ( Min Ho Jung ),이순주 ( Soon Ju Lee ),성인경 ( In Kyung Sung ),김소영 ( So Young Kim ) 대한주산의학회 2011 Perinatology Vol.22 No.4
Haddad syndrome is an extremely rare disorder which combines congenital central hypoventilation syndrome (CCHS) and Hirschsprung`s disease. Several reports have demonstrated that CCHS was related to mutation of the PHOX2B gene. We report here a newborn male infant with apnea and bowel obstruction. He has been diagnosed with combined congenital central hypoventilation syndrome and Hirschsprung`s disease, and had 27 polyalanine repeats in the PHOX2B gene. Two cases of Haddad syndrome with identified PHOX2B gene mutation have been recently reported in Korea. Both of them had extended alleles containing 26 polyalanine repeats. It is known that increased number of polyalanine repeat mutations is associated with a more severe clinical phenotype. The baby reported here had 27 alanine repeats (i.e. one more than the previously reported cases in Korea) and ganglion cells could be found only in the distal 70 cm of his small bowel.
Amphotericin B의 투여방법간의 임상적 안전성 및 유효성 비교
김진이,양성희,한윤덕,최선,김순주,황보신이 한국병원약사회 2003 병원약사회지 Vol.20 No.3
Despite of the potential utility of amphotericin B in invasive general fungal infections its adverse events, particulary renal toxicity, are limiting factors in its use. Lipid formulations of amphotericin B are believed to offer a better therapeutic index, but their cost and insurance restriction limit their clinical use. These days many controversal results have been published according to efficacy and safety of simply mixed amphotericin B in lipid emulsion. So we conducted retrospective chart review study to compare efficacy and safety of simply mixed amphotericin B with lipid emulsion(A) to liposomal amphotericin B(B) and amphotericin B in 5% dextrose water(C). Among the medical chart of C hospital from January, 2000 to December, 2001 total 59 case of amphotericin B applications were selected. Safety of each methods evaluated by ΔScr, ΔBUN, ΔK. The patients receiving (A) showed the lowest ΔScr(-1±2.79. p=2.59), ΔBUN(2.04±22.69, p=0.24) whereas (B) (-0.31±1.36, 14.66±20.74, p=0.5) and (C) (0.19±0.45, 7.97±12.21) showed moderately high score. However the percentage of patients who need to receive potassium to adjust hypokalemia were 25% in (B), 50% in (A), 65% in (C). Additional laboratory certification of physical and chemical stability of (A) and clinical prospective study are essential to define potential difference in safety and efficacy of each methods.
KANG, KYU YOUNG,KIM, SOON JU,PARK, JAE HAN,CHO, MOO JE 경상대학교 유전공학연구소 1988 遺傳工學硏究所報 Vol.7 No.-
The entomocidal toxin encoding gene from Bacillus thuringiensis subsp. kurstaki(BTK) HD73 was identified by plasmid transfer from donor strain BTK HD73 into a recipient strain B. cereus 569 (Sm, Cry). The transcipient containing 50Md plasmid produced protoxin polypeptide which was identified by western blot analysis. To understand the sporulation-dependent δ-endotoxin gene expression, the protoxin gene from BTK HD73 was transformed into genetically characterized spoO mutants of B. subtilis. Total DNA from BTK HD73 was transformed into competent cells of spoOA, OB, OC, OD, OE, OF, OH, OK mutants and maintained stably in the recipient spoO mutants. The protoxin gene transformed did not appear to express during the exponential phase of growth, but fully expressed after onset of sporulation phase.