The Influence of Family History on Stage and Survival of Gastric Cancer According to the TGFB1 C-509T Polymorphism in Korea.

Background/Aims: The survival rate of gastric cancer (GC) is known to be higher in patients with a family history (FH) of GC. There is an association between a polymorphism in the transforming growth factor-ß1 (TGFB1) gene and the risk of GC in patients with first-degree relatives with GC. This study was performed to investigate whether a FH affects GC outcomes according to the TGFB1 C-509T polymorphism. Methods: TGFB1 was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method in 1,143 GC patients, including 216 patients (18.9%) with first-degree relatives with GC. Results: The proportion of stage I-II GCs was significantly higher in patients with a FH than in those without a FH of GC (83.8 vs 74.9%, p=0.005). The association between a FH of GC and stage I-II GC was not significant in subgroups divided based on the TGFB1 C-509T polymorphism and sex. A FH did not affect the overall survival rate of GC in patient with all stages and each stage. The overall survival rates were not significantly different between patients with the CC and CT/TT genotypes of the TGFB1-509 polymorphism. Conclusions: Patient with a FH of GC had lower cancer stage (I-II) at diagnosis than those without a FH of GC, but there was no significant difference in overall survival between the patients with and without a FH of GC. A FH did not influence the tumor stage or overall survival in patients stratified by the presence of the TGFB1 C-509T polymorphism.

A functional regulatory variant of MYH3 influences muscle fiber-type composition and intramuscular fat content in pigs.

Muscle development and lipid accumulation in muscle critically affect meat quality of livestock. However, the genetic factors underlying myofiber-type specification and intramuscular fat (IMF) accumulation remain to be elucidated. Using two independent intercrosses between Western commercial breeds and Korean native pigs (KNPs) and a joint linkage-linkage disequilibrium analysis, we identified a 488.1-kb region on porcine chromosome 12 that affects both reddish meat color (a*) and IMF. In this critical region, only the MYH3 gene, encoding myosin heavy chain 3, was found to be preferentially overexpressed in the skeletal muscle of KNPs. Subsequently, MYH3-transgenic mice demonstrated that this gene controls both myofiber-type specification and adipogenesis in skeletal muscle. We discovered a structural variant in the promotor/regulatory region of MYH3 for which Q allele carriers exhibited significantly higher values of a* and IMF than q allele carriers. Furthermore, chromatin immunoprecipitation and cotransfection assays showed that the structural variant in the 5'-flanking region of MYH3 abrogated the binding of the myogenic regulatory factors (MYF5, MYOD, MYOG, and MRF4). The allele distribution of MYH3 among pig populations worldwide indicated that the MYH3 Q allele is of Asian origin and likely predates domestication. In conclusion, we identified a functional regulatory sequence variant in porcine MYH3 that provides novel insights into the genetic basis of the regulation of myofiber type ratios and associated changes in IMF in pigs. The MYH3 variant can play an important role in improving pork quality in current breeding programs.

Larkinella roseus sp. nov., a species of the family Cytophagaceae isolated from beach soil.

The taxonomic position of bacterial strain, designated 15J16-1T3AT, recovered from a soil sample was established using a polyphasic approach. Phylogenic analysis based on the 16S rRNA gene sequence showed that strain 15J16-1T3AT belonged to the family Cytophagaceae, phylum Bacteroidetes, and was most closely related to 'Larkinella harenae' 15J9-9 (95.9% similarity), Larkinella ripae 15J11-11T (95.6%), Larkinella bovis M2TB15T (94.7%), Larkinella arboricola Z0532T (93.9%), and Larkinella insperata LMG 22510T (93.5%). Cells were rod-shaped, Gram-stain-negative, aerobic, and nonmotile. The isolate grew on NA, R2A, TSA, but not on LB agar. The strain was able to grow at temperature range from 10°C to 30°C with an optimum at 25°C and pH 6-8. Menaquinone MK-7 was the predominant respiratory quinone. The major cellular fatty acids comprised C16:1ω5c (48.6%) and C15:0 iso (24.1%). Phosphatidylethanolamine, phosphatidylserine, and an unidentified lipid were the major polar lipids. The G + C content of the genomic DNA was 49.5 mol%. Strain 15J16-1T3AT could be distinguished from its closest phylogenetic neighbors based on its phenotypic, genotypic, and chemotaxonomic features. Therefore, the isolate is considered to represent a novel species in the genus Larkinella, for which the name Larkinella roseus sp. nov. is proposed. The type strain is 15J16-1T3AT (= KCTC 52004T = JCM 31991T).

Functional status and amount of hip displacement independently affect acetabular dysplasia in cerebral palsy.

AIM: Acetabular dysplasia is the one of main causes of hip displacement in patients with cerebral palsy (CP). Although several studies have shown a relationship between hip displacement and acetabular dysplasia, relatively few have evaluated the association between quantitative acetabular dysplasia and related factors, such as Gross Motor Function Classification System (GMFCS) level. METHOD: We performed a morphometric analysis of the acetabulum in patients with CP using multiplanar reformation of computed tomography data. The three directional acetabular indices (anterosuperior, superolateral, and posterosuperior) were used to evaluate acetabular dysplasia. Consequently, linear mixed-effects models were used to adjust for related factors such as age, sex, GMFCS level, and migration percentage. RESULTS: A total of 176 patients (mean age 9y 5mo, range 2y 4mo-19y 6mo; 104 males, 72 females) with CP and 55 typically developing individuals (mean age 13y 6mo, range 2y 5mo-19y 10mo; 37 males, 18 females) in a comparison group were enrolled in this study. Statistical modelling showed that all three directional acetabular indices independently increased with GMFCS level (p<0.001) and migration percentage (p<0.001). INTERPRETATION: Acetabular dysplasia was independently affected by both the amount of hip displacement and the GMFCS level. Thus, physicians should consider not only the migration percentage but also three-dimensional evaluation in patients at high GMFCS levels.

Lacinutrix chionocetis sp. nov., isolated from gut of a red snow crab.

A Gram-negative, aerobic, non-motile, rod-shaped bacterial strain, designated MAB-07T, was isolated from the gut of a red snow crab. The novel strain grew optimally at 20 °C, pH 7.0-8.0, and in the presence of 3% (w/v) NaCl. A phylogenetic analysis based on the 16S rRNA gene sequence indicated that the strain MAB-07T belongs to the type strains of species of the genus Lacinutrix. Strain MAB-07T exhibited 16S rRNA gene sequence similarity values of 95.5-97.8% with the type strains of species of the genus Lacinutrix. The predominant cellular fatty acids of strain MAB-07T were iso-C15:1 G (27.5%) and iso-C15:0 (21.7%). The major respiratory quinine was identified as MK-6. The polar lipids consisted of phosphatidylethanolamine, four unidentified aminolipids, and two unidentified lipids. The genomic DNA G + C content was determined to be 33.3%, and its DNA-DNA relatedness values with the type strains of L. venerupis, L. mariniflava, L. jangbogonensis, L. algicola, and Olleya aquimaris were 28-32%. Based on the data from this polyphasic taxonomic study, strain MAB-07T is considered to represent a novel species of the genus Lacinutrix, for which the name L. chionocetis sp. nov. is proposed. The type strain is MAB-07T (=KCTC 42767T = JCM 30988T).

Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans.

PURPOSE: Lynch syndrome, the commonest hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair (MMR) genes. Three recently developed prediction models for MMR gene mutations based on family history and clinical features (MMRPredict, PREMM(1,2,6), and MMRPro) have been validated only in Western countries. In this study, we propose validating these prediction models in the Korean population. MATERIALS AND METHODS: We collected MMR gene analysis data from 188 individuals in the Korean Hereditary Tumor Registry. The probability of gene mutation was calculated using three prediction models, and the overall diagnostic value of each model compared using receiver operator characteristic (ROC) curves and area under the ROC curve (AUC). Quantitative test characteristics were calculated at sensitivities of 90%, 95%, and 98%. RESULTS: Of the individuals analyzed, 101 satisfied Amsterdam criteria II, and 87 were suspected hereditary nonpolyposis colorectal cancer. MMR mutations were identified in 62 of the 188 subjects (33.0%). All three prediction models showed a poor predictive value of AUC (MMRPredict, 0.683; PREMM(1,2,6), 0.709; MMRPro, 0.590). Within the range of acceptable sensitivity (> 90%), PREMM(1,2,6) demonstrated higher specificity than the other models. CONCLUSION: In the Korean population, overall predictive values of the three models (MMRPredict, PREMM(1,2,6), MMRPro) for MMR gene mutations are poor, compared with their performance in Western populations. A new prediction model is therefore required for the Korean population to detect MMR mutation carriers, reflecting ethnic differences in genotype-phenotype associations.

Jejuia marina nov., isolated from gravel adjacent to Geommeolle beach on Udo Island, South Korea.

A bacterial strain, JH03(T), was isolated from gravel adjacent to Geommeolle beach on Udo Island, South Korea. The cells were Gram-stain-negative, aerobic, non-motile and rod shaped. The ranges of temperature, pH and NaCl concentration for growth of the bacterium were 10-45 °C, pH 6.0-9.5 and 0.5-5.0 % (w/v), respectively. The major fatty acids of the bacterium were iso-C(15:0) (15.4 %), iso-C(15:1) G (14.1 %), iso-C(16:0) 3-OH (14.1 %), iso-C(17:0) 3-OH (11.5 %) and anteiso-C(15:0) (11.3 %). The major isoprenoid quinone was MK-6. The polar lipids included phosphatidylethanolamine, two unidentified amino lipids and three unidentified lipids. The DNA G+C content was 34.2 mol%. The phylogenetic analysis of the 16S rRNA gene sequences showed that strain JH03(T) was most closely related to Jejuia pallidilutea EM39(T) (96.5 % sequence similarity). Based on the polyphasic analysis, strain JH03(T) is a novel species of the genus Jejuia, for which the name Jejuia marina sp. nov. is proposed. The type strain is JH03(T) (= KCTC 42342(T) = JCM 30601(T)).

Aestuariibaculum scopimerae sp. nov., isolated from the globular ghost crab, Scopimera globosa.

A Gram-staining-negative, non-motile, catalase- and oxidasepositive bacterium, designated strain I-15(T), was isolated from a crab of the Yellow Sea, Korea. On the basis of a 16S rRNA gene sequence analysis, strain I-15(T) was shown to belong to Bacteroidetes, related to the genus Aestuariibaculum. Sequence similarity between strain I-15(T) and the only type strain of the genus Aestuariibaculum, Aestuariibaculum suncheonense SC17(T), was 96.7%. Strain I-15(T) grew at 0.5-6.0% (w/v) NaCl, at 10-42°C and at pH 4.5-8.0. It could hydrolyze starch and Tweens 80. Menaquinone-6 was the only respiratory quinone, and summed features 3 (C16:1 ω7c/C16:1 ω6c) (16.4%), iso-C15:0 (15.6%), and iso-C15:1 G (12.6%) were the major cellular fatty acids. The major polar lipids were phosphatidylethanolamine, two unidentified aminolipids and two unidentified lipids. The DNA G+C content was 39.0 mol%. Polyphasic data allowed genotypic and phenotypic distinction of strain I-15(T) from the only validly published Aestuariibaculum species. Therefore, the organism is considered a novel species of the genus Aestuariibaculum, for which the name Aestuariibaculum scopimerae sp. nov. is proposed. The type strain is I-15(T) (=KCTC 32459(T) =JCM 19486(T)).

Sunxiuqinia dokdonensis sp. nov., isolated from deep sub-seafloor sediment.

A novel facultatively anaerobic strain DH1(T) was isolated from deep sub-seafloor sediment at a depth of 900 m below the seafloor off Seo-do (the west part of Dokdo Island) in the East Sea of the Republic of Korea. The new strain was characterized using polyphasic approaches. The isolate was Gram-stain-negative, motile by gliding, non-spore-forming rods, oxidase-negative, and catalase-positive; and formed colonies of orange-red color. The NaCl range for growth was 0.5-7.0% (w/v) and no growth was observed in the absence of NaCl. The isolate grew optimally at 30°C, with 2% (w/v) NaCl and at pH 7. The cell-wall hydrolysates contained ribose as a major sugar. The DNA G+C content was 40.8 mol%. The closest related strains are Sunxiuqinia faeciviva JAM-BA0302(T) and Sunxiuqinia elliptica DQHS-4(T) (97.9 and 96.3% sequence similarity, respectively). The level of DNA-DNA relatedness between strain DH1(T) and S. faeciviva JAM-BA0302(T) was around 41% (but only 6% between DH1T and S. elliptica DQHS-4(T)). The major cellular fatty acids of the isolate were contained iso-C15:0 (25.9%), anteiso-C15:0 (16.7%), and summed feature 9 (comprising C16:0 3-OH and/or unknown fatty acid of dimethylacetal ECL 17.157; 13.2%). The predominant menaquinone was MK-7. On the basis of polyphasic evidence from this study, the isolate was considered to represent a novel species of the genus Sunxiuqinia, for which the name Sunxiuqinia dokdonensis sp. nov. is proposed; the type strain is DH1(T) (=KCTC 32503(T) =CGMCC 1.12676(T) =JCM 19380(T)).

Human adipose tissue-derived mesenchymal stem cells improve postnatal neovascularization in a mouse model of hindlimb ischemia.

BACKGROUND/AIM: It has been reported that adipose tissue contain progenitor cells with angiogenic potential and that therapy based on adipose tissue-derived progenitor cells administration may constitute a promising cell therapy in patients with ischemic disease. In this study we evaluated the effect of culture-expanded mesenchymal stem cells (MSC) derived from adipose tissue on neovascularization and blood flow in an animal model of limb ischemia in immunodeficient mice. METHODS: MSC were cultured from human adipose tissue by collagenase digestion. Hindlimb ischemia was created by ligating the proximal femoral artery of male nude mice. Human adipose tissue stromal cells (hADSC) were transplanted one day or 7 days after ligation. RESULTS: During culture expansion of hADSC CD34 expression was downregulated. The laser Doppler perfusion index was significantly higher in the CD34(-), Flk-1(-), CD31(-) ADSC-transplanted group than in the control group, even when cells were transplanted 7 days after hindlimb ischemia. Histological examination showed that hADSC transplantation recovered muscle injury and increased vascular density, compared with the control group. The effect of hADSC was correlated with the number of transplanted cells, but not with the ratio of CD34 expression. In vitro, hADSC can form vessel-like structure and express von Willibrand Factor. Conditioned media from hADSC increased proliferation and inhibited apoptotic cell death in of human aortic endothelial cells. CONCLUSION: This study showed that hADSC can be an ideal source for therapeutic angiogenesis in ischemic disease.

Successful treatment of localized cutaneous infection caused by Mycobacterium scrofulaceum with clarithromycin.

Cutaneous infection arising from Mycobacterium scrofulaceum, a nontuberculous mycobacteria, has rarely been reported, and most of the reported infections were disseminated forms in patients with AIDS or other immunocompromising illness. We describe an occurrence of localized mycobacterial skin infection caused by M. scrofulaceum in a previously healthy child that manifested as a red nodule on the cheek. A biopsy specimen of the lesion demonstrated granulomatous infiltration in the dermis. M. scrofulaceum was isolated from culture of a tissue specimen. Polymerase chain reaction amplified specific fragments for M. scrofulaceum. The patient was treated successfully with clarithromycin as monotherapy for 6 months, leading to complete healing without recurrence during a follow-up period of 2 years.

Human adipose stromal cells expanded in human serum promote engraftment of human peripheral blood hematopoietic stem cells in NOD/SCID mice.

Human mesenchymal stem cells (hMSC), that have been reported to be present in bone marrow, adipose tissues, dermis, muscles, and peripheral blood, have the potential to differentiate along different lineages including those forming bone, cartilage, fat, muscle, and neuron. Therefore, hMSC are attractive candidates for cell and gene therapy. The optimal conditions for hMSC expansion require medium supplemented with fetal bovine serum (FBS). Some forms of cell therapy will involve multiple doses, raising a concern over immunological reactions caused by medium-derived FBS proteins. In this study, we cultured human adipose stromal cells (hADSC) and bone marrow stroma cells (HBMSC) in human serum (HS) during their isolation and expansion, and demonstrated that they maintain their proliferative capacity and ability for multilineage differentiation and promote engraftment of peripheral blood-derived CD34(+) cells mobilized from bone marrow in NOD/SCID mice. Our results indicate that hADSC and hBMSC cultured in HS can be used for clinical trials of cell and gene therapies, including promotion of engraftment after allogeneic HSC transplantation.

Intralesional interferon alfa-2b treatment of keratoacanthomas.

BACKGROUND: Complete excision is not always easy when a keratoacanthoma is large or located in certain anatomic areas. An effective nonsurgical treatment would be desirable in such cases. OBJECTIVE: This was a pilot study of the effects of intralesional interferon alfa-2b in the treatment of rapidly growing keratoacanthomas. METHODS: A total of 4 large, rapidly growing keratoacanthomas, which were located on the lower lip, neck, and cheeks of the 4 different patients, were treated with intralesional interferon alfa-2b injection weekly. Serial photographs were taken to observe the course of responses. RESULTS: All lesions resolved completely in 5 to 7 weeks with acceptable cosmetic results. CONCLUSION: Intralesional interferon alfa-2b can be a treatment modality of these difficult lesions.

A case of foul genital odor treated with botulinum toxin A.

BACKGROUND: Genital odor is an uncommon condition characterized by an offensive and malodorous smell in the genital area. Although the etiology of foul genital odor is multifactorial, an important cause is sweat secretion and decomposition of sweat components by bacteria. Different methods are effective in reducing body odor secondary to bromhidrosis. Conservative methods only act for a short period of time, and more invasive surgical methods carry risk of complications or are inapplicable for the genital region. METHODS: A patient with localized foul odor in the genital hair bearing area was treated with botulinum toxin A. RESULTS: Botulinum toxin A was effective in creating an odorless and anhydrous response in the genital region, and no major adverse effects were noted during a follow-up of 9 months after injection. CONCLUSION: Local injection of botulinum toxin A appears to be a useful treatment for foul genital odor related to sweat glands activity.

Multiple basal cell carcinomas arising in a port-wine stain with a remote history of therapeutic irradiation.

The coexistence of a basal cell carcinoma and a port-wine stain is a very rare condition that may be associated with previous treatments. We present a case of multiple basal cell carcinomas developing within the boundaries of a port-wine stain, which had been treated with a tholium X and argon laser. Our case suggests that port-wine stains which were previously treated with irradiation or argon laser should be examined carefully and regularly by both physician and patient, because they may hide basal cell carcinomas.

A case of porocarcinoma from pre-existing hidroacanthoma simplex: need of early excision for hidroacanthoma simplex?

BACKGROUND: Hidroacanthoma simplex (HAS) is an uncommon eccrine neoplasm of the skin. It is a benign neoplasm, but some cases of malignant change were reported in the literature. OBJECTIVE: To describe a rare case of porocarcinoma in a relatively short period from pre-existing HAS on the abdomen. METHODS: Wide local excision was performed on this neoplasm. RESULTS: There was no recurrence for 72 months after wide excision. CONCLUSION. : We recommend an early excision and careful attention in the case of HAS because of its potential malignant change.