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Antitumor and normal cell protective effect of PKC412 in the athymic mouse model of ovarian cancer.
Kim, Myungshin,Park, In-Yang,Lim, Jihyang,Kim, Yonggoo,Han, Ku Taek,Chung, Won Heui,Han, Kyungja Institute for Clinical Science] 2006 Annals of clinical and laboratory science Vol.36 No.4
<P>N-benzoyl-staurosporine (PKC412) is a selective inhibitor of protein kinase C, and it inhibits the growth of human cancer cells. In this study, we examined the antitumor effect of PKC412, given singly and in combination with paclitaxel, on tumor regression and chemotherapeutic side effects by assessing tumor burden and cytokine production responses in vivo. Twenty-six nude mice intraperitoneally inoculated with SKOV3 cells were treated differently in 4 treatment groups: PKC412 plus paclitaxel (n = 7), paclitaxel-only (n = 6), PKC412-only (n = 6), and controls (n = 7). At autopsy, we found that PKC412 itself slightly reduced the mass of tumor but did not fully inhibit tumor formation. The incidence of evident disease was decreased when PKC412 was combined with paclitaxel (43%). From the body weight of the tumor-bearing mice, we observed that PKC412 plus paclitaxel treated mice were less wasted than paclitaxel-only treated mice (18.1 g vs 22.4 g, p = 0.001). We measured intracellular TNFalpha, IFNgamma, IL-4, and IL-10 in stimulated mouse splenocytes using flow cytometry to determine if PKC412 inhibited cytokine production in T cells. TNFalpha, IFNgamma, and IL-10 production were all significantly inhibited in the paclitaxel-treated mice. The inhibitory effects on cytokine production by paclitaxel were compensated with PKC412 combination (p = 0.008, 0.035, 0.014, respectively). From this study, we deduce that PKC412 may have clinical applications in promoting tumor regression in ovarian cancer when combined with paclitaxel. Moreover, PKC412 is able to prevent weight loss and immunosuppression induced by paclitaxel because it rescues normal proliferating cells from cytotoxic effects.</P>
Kim, Hyunjung,Kim, Yonggoo,Yoon, Sangsoon,Lim, Jihyang,Kim, Myungshin,Lee, Soonwook,Kang, Sunghan,Lee, Eun Jung,Kang, Chang Suk,Han, Kyungja Institute for Clinical Science] 2006 Annals of clinical and laboratory science Vol.36 No.3
<P>To evaluate the screening power of the fecal cytokeratin-19 test (CK-19) and the fecal occult blood test (FOBT), we performed rapid fecal CK-19 and FOBT tests on 515 stool samples from patients with various GI diseases and 814 stool samples from control patients. The rapid fecal CK-19 test (developed by DiNonA Research Institute, Seoul, Korea) is based on gold immunochromatography and has a sensitivity of 1 ng/ml. The positive rate of the FOBT was 2.1% in controls, 14.0% in GI cancer patients, 3.5% in GI inflammation patients, 11.7% in bone marrow transplant (BMT) patients, and 6.0% in childhood diarrhea patients. Except for the GI inflammation patients, the patients' positive rates for FOBT were all higher than the controls (p <0.05). The positive rate of the fecal CK-19 test was 8.2% in controls, 42.1% in GI cancer patients, 66.0% in GI inflammation patients, 84.8% in BMT patients, and 19.9% in childhood diarrhea patients. In all of the patient groups, positive rates for the CK-19 test were higher than in the controls (p <0.05). The fecal CK-19 test was more frequently positive (42.1%) in GI cancer patients than the FOBT; if both tests were used, the sensitivity was 49.1%. The fecal CK-19 test (but not the FOBT) gave a higher positive rate in GI inflammation patients than the controls, suggesting that the CK-19 test could serve as a screening test for GI inflammation. The highest positive rate of the fecal CK-19 test was found in the BMT group, indicating that significant GI epithelial desquamation had occurred. Although the positive rate of the fecal CK-19 test in childhood diarrhea patients was higher than in the controls, it was much lower than in adults with GI inflammatory disease. Evidently, children with GI inflammation do not desquamate as much intestinal epithelium as adult patients with GI inflammation. This study shows that the rapid fecal GK-19 test, used in conjunction with the FOBT, may be a valuable screening technique for GI diseases and can assist physicians in the differential diagnosis of GI diseases.</P>
A novel frameshift mutation in the EYA1 gene in a Korean family with Branchio-oto-renal syndrome.
Lee, Jong Dae,Kim, Shi-Chan,Koh, Yoon Woo,Lee, Hye-Jin,Choi, Soo-Young,Kim, Un-Kyung Institute for Clinical Science] 2009 Annals of clinical and laboratory science Vol.39 No.3
<P>Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.</P>
Lee, Yangsoon,Yum, Jong Hwa,Kim, Chang-Ki,Yong, Dongeun,Jeon, Eun Hee,Jeong, Seok Hoon,Ahn, Jee Young,Lee, Kyungwon Institute for Clinical Science] 2010 Annals of clinical and laboratory science Vol.40 No.1
<P>This study was performed to determine the mechanisms for acquiring carbapenem resistance in six clinical isolates of Acinetobacter baumannii. All isolates showed similar SmaI-macrorestriction patterns with less than 3 band differences by PFGE. The isolates showed a high level resistance (>32 mg/L) to both imipenem and meropenem by Etest. Phe-Arg-beta-naphthylamide lowered the MICs of carbapenems. Real-time PCR experiments showed that expression levels of the adeB gene in the six A. baumannii isolates were 10- to 40-times higher than those of imipenem-susceptible strains. Direct sequencing of PCR products showed that all isolates carried the bla(OXA-23) gene, which was preceded by ISAba1. The bla(OXA-23) probe hybridized with approximately 500-kb I-CeuI chromosomal fragments, but not with a plasmid. These findings suggest that overexpression of the AdeABC efflux pump as well as chromosome-borne OXA-23 may play a role in acquiring carbapenem resistance in our A. baumannii isolates.</P>
Oh, Eun-Jee,Jekarl, Dong Wook,Jang, Hyun-Sik,Park, Hae-Il,Park, Yeon-Joon,Choi, Hyun Ah,Chun, Chung-Sik,Kim, Yonggoo,Kim, Hyung Hoi Institute for Clinical Science] 2008 Annals of clinical and laboratory science Vol.38 No.1
<P>The Di(b) antigen usually occurs with high incidence, except in certain Asian and South American Indian populations. In general, hemolysis caused by anti-Di(b) is not severe and its clinical course is benign. We report a Korean neonate with severe hemolytic disease of the newborn caused by anti-Di(b). The phenotype and genotype of the Diego blood group system of the patient and his mother were Di(a+b+) and Di(a+b-), respectively. The mother's serum and eluate from the neonate's erythrocytes contained anti-Di(b). This case was successfully managed with phototherapy and high dose iv immunoglobulin. Since most commercial antibody detection panels do not contain Di(b-) red cells, it is important to consider anti-Di(b) in cases of hemolytic disease of the newborn caused by an antibody against a high frequency antigen.</P>
Han, Mi Seon,Ko, Jung Min,Cho, Tae-Joon,Park, Woong-Yang,Cheong, Hae Il Institute for Clinical Science] 2015 Annals of clinical and laboratory science Vol.45 No.1
<P>Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) share many similarities, including craniofacial abnormalities, bony deformities, and renal involvement. Because mutations in exon 34 of NOTCH2 have been identified recently in both HCS and SFPKS patients, it has been suggested that these two syndromes be classed as the same disorder. A 3-year-old boy presented with polycystic kidneys and club feet detected during the fetal period; however, acroosteolysis and curved fibulae were not observed. His mother showed osteoporosis and had a history of compression fractures in the spine without renal anomalies. Although the same novel mutation in NOTCH2 was found in both the mother and her son, these patients displayed different clinical manifestations. In this report, we present a familial case of HCS in a boy and his mother that was suspected on physical examination and radiological findings. We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifestations associated with truncating mutations in exon 34 of NOTCH2.</P>
Mutations of ACADS Gene Associated with Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Kim, Se Hwa,Park, Hyung-Doo,Sohn, Young Bae,Park, Sung Won,Cho, Sung Yoon,Ji, Suntae,Kim, Su Jin,Choi, Eun Wha,Kim, Chi Hwa,Ko, Ah-Ra,Yeau, Sunghee,Paik, Kyung-Hoon,Jin, Dong-Kyu Institute for Clinical Science] 2011 Annals of clinical and laboratory science Vol.41 No.1
<P>Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here, the first Korean neonate diagnosed with SCADD by biochemical and genetic findings is reported. The patient has remained asymptomatic by avoiding hypoglycemia. An increased concentration of butylcarnitine was detected on newborn screening. Subsequent urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. To confirm the presence of the genetic abnormality, all the coding exons of the ACADS gene and flanking introns were amplified by the polymerase chain reaction (PCR). Sequence analysis of the ACADS gene revealed novel homozygous missence mutations, c. 1031A>G (p.E344G) in exon 9. In summary, the first Korean patient with confirmed SCADD by genetic analysis is reported with novel mutation.</P>
Park, Hyung-Doo,Ki, Chang-Seok,Kim, Jong-Won,Kim, Woo Taek,Kim, Jin-Kyung Institute for Clinical Science] 2010 Annals of clinical and laboratory science Vol.40 No.1
<P>Cornelia de Lange syndrome (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, growth delay, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or cardiac abnormalities. Although the NIPBL gene has been identified as a causative gene for CdLS, there has hitherto been no genetically confirmed case of CdLS in Korea. Herein, we report a clinical and genetic analysis of three Korean patients with clinical features consistent with CdLS. A male neonate had distinctive facial features, malformations of the upper extremities, genital abnormalities, and bilateral hearing loss, while a 6-yr-old boy and a 10-yr-old girl had distinctive facial features, short stature, and mental retardation. There were no chromosomal abnormalities in the three children. Sequence analysis of the NIPBL gene revealed three novel NIPBL variations including c.6108+2T>C, c.4028A>C (p.His1343Pro), and c.218C>T (p.Ser73Leu) in each patient, respectively. The first two variations appear to be de novo mutations causing CdLS in the patients because they are absent in the patients' parents. The p.Ser73Leu variation, however, seems to be a polymorphism since it is found both in the patient and in her asymptomatic mother. To the best of our knowledge, this is the first report of genetically confirmed cases of CdLS in Korea and extends the mutation spectrum of the NIPBL gene.</P>
Park, Chang-Hun,Park, Hyung-Doo,Lee, Soo-Youn,Kim, Jong-Won,Sohn, Young Bae,Park, Sung Won,Jin, Dong-Kyu Institute for Clinical Science] 2010 Annals of clinical and laboratory science Vol.40 No.3
<P>Pseudohypoparathyroidism (PHP) comprises a heterogeneous group of endocrine disorders with the common feature of resistance to parathormone (PTH), manifested by hypocalcemia, hyperphosphatemia, and elevation of serum PTH despite normal renal function. Herein, the first Korean cases of PHP type Ia are reported. The two patients (6-yr-old female, 7-yr-old male) had typical signs of Albright hereditary osteodystrophy. Genomic DNA was isolated from their peripheral blood leukocytes and the GNAS gene was amplified by PCR and analysed by bidirectional sequencing including all coding exons. Two GNAS mutations were found: c.94A>T and c.344_345insT. Patient 1 had a nonsense mutation of c.94A>T (p. K32X), which has not been previously described; the mother also had c.94A>T, and it therefore was a familial mutation. Patient 2 had a known frame shift mutation for c.344_345insT (p.V117RfsX23). The family members of patient 2 had wild-type sequences. In summary, two Korean patients with PHP-Ia were confirmed by genetic analysis and a novel p.K32X product of the GNAS mutation was identified.</P>