Cereblon (CRBN), a negative modulator of AMP-activated protein kinase (AMPK), is highly expressed in the retina. We confirmed the expression of CRBN in ARPE-19 human retinal cells by Western blotting. We also demonstrated that CRBN knock-down (KD) could effectively downregulate IL-6 and MCP-1 protein and gene expression in LPS-stimulated ARPE-19 cells. Additionally, CRBN KD increased the phosphorylation of AMPK/acetyl-coenzyme A carboxylase (ACC) and the expression of heme oxygenase-1 (HO-1) in ARPE-19 cells. Furthermore, CRBN KD significantly reduced LPS-induced nuclear translocation of NF-κB p65 and activation of NF-κB promoter activity. However, these processes could be inactivated by compound C (inhibitor of AMPK) and zinc protoporphyrin-1 (ZnPP-1; inhibitor of HO-1). In conclusion, compound C and ZnPP-1 can rescue LPS-induced levels of proinflammatory cytokines (IL-6 and MCP-1) in CRBN KD ARPE-19 cells. Our data demonstrate that CRBN deficiency negatively regulates proinflammatory cytokines via the activation of AMPK/HO-1 in the retina.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma α-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.
Angiokeratoma ; Child ; Cornea ; Fabry Disease* ; Humans ; Hypertrophy, Left Ventricular ; Hypohidrosis ; Lysosomal Storage Diseases ; Male* ; Mothers ; Neurologic Manifestations ; Plasma ; Siblings

Oak tree death caused by symbiosis of an ambrosia beetle, Platypus koryoensis, and an ophiostomatoid filamentous fungus, Raffaelea quercus-mongolicae, has been a nationwide problem in Korea since 2004. In this study, we surveyed the yeast species associated with P. koryoensis to better understand the diversity of fungal associates of the beetle pest. In 2009, a total of 195 yeast isolates were sampled from larvae and adult beetles (female and male) of P. koryoensis in Cheonan, Goyang, and Paju; 8 species were identified by based on their morphological, biochemical and molecular analyses. Meyerozyma guilliermondii and Candida kashinagacola were found to be the two dominant species. Among the 8 species, Candida homilentoma was a newly recorded yeast species in Korea, and thus, its mycological characteristics were described. The P. koryoensis symbiont R. quercusmongolicae did not show extracelluar CM-cellulase, xylanase and avicelase activity that are responsible for degradation of wood structure; however, C. kashinagacola and M. guilliermondii did show the three extracellular enzymatic activities. Extracelluar CM-cellulase activity was also found in Ambrosiozyma sp., C. homilentoma, C. kashinagacola, and Candida sp. Extracelluar pectinase activity was detected in Ambrosiozyma sp., C. homilentoma, Candida sp., and M. guilliermondii. All the 8 yeast species displayed compatible relationships with R. quercus-mongolicae when they were co-cultivated on yeast extract-malt extract plates. Overall, our results demonstrated that P. koryoensis carries the yeast species as a symbiotic fungal associate. This is first report of yeast diversity associated with P. koryoensis.
Adult ; Ambrosia* ; Beetles* ; Candida ; Cellulases ; Chungcheongnam-do ; Fungi ; Humans ; Korea* ; Larva ; Platypus* ; Polygalacturonase ; Quercus* ; Symbiosis ; Wood ; Yeasts*

BACKGROUND AND OBJECTIVES: The purpose of this study is to evaluate the validity and reliability of the whispered voice test, which has been suggested as a screening test tool for hearing in the elderly group. SUBJECTS AND METHOD: A prospective multicenter trial has been designed. One hundred and seventy two elderly subjects from four university hospitals were included in this study. A whispered voice test using a number list and number/word list was performed by two testers for each elderly subject. To evaluate their test-retest reliability, a second whispered voice test was done 1-2 weeks later. The result of the whispered voice test was analyzed with the criteria of 26 dB and 40 dB hearing level, checked by pure tone audiometry. Sensitivity, specificity, and cut-off point of whispered voice test at each gold standard, inter-observer reliability and test-retest reliability have been investigated. RESULTS: There were significant differences with respect to correctly answered numbers in the whispered voice test between the normal and impaired hearing group at both criteria of 26 dBHL and 40 dBHL. With the 26 dB criteria of hearing level which showed higher inter-observer reliability of the number/word list, the whispered voice test has 86.0% sensitivity and 58.9% specificity with the cut-off point of 3 out of six on the number set. The test-retest reliability of whispered voice test using the number list was as high as 0.9 of correlation coefficient. However, the inter-observer reliability of whispered voice test was less than 0.6 (Cohen's kappa value). CONCLUSION: As a screening test for hearing in the elderly group, the whispered voice test has quite high sensitivity and test-retest reliability. The environmental sound level and test method for each tester, however, should be monitored to get better specificity and inter-observer reliability.
Aged ; Audiometry ; Hearing ; Hospitals, University ; Humans ; Mass Screening ; Prospective Studies ; Reproducibility of Results ; Sensitivity and Specificity ; Voice

Pet dogs have been considered to be involved in the contamination of indoor air by serving as a source of providing molds at houses. Currently, information on the molds originated from pet dogs is rarely available in Korea. The present study was carried out to obtain basic information on the fungi present on pet dogs. For this, fungal isolation was performed to the skin and hairs of 70 pet dogs at different houses and veterinary hospitals. A total of 44 fungal isolates were obtained from skin (27 isolates) and hairs (17 isolates) of the dogs investigated. Based on the observation of microstructures and colony morphology, and the ITS rDNA sequence analysis, the fungal isolates were identified at the level of genus. The identified isolates belong to the genera of Alternaria, Aspergillus, Beauveria, Chrysosporium, Cladosporium, Penicillium, Scopulariopsis, and Trichoderma. Among these genera, Aspergillus (25%), Cladosporium (23%) and Penicillium (20.5%) were 3 major genera. 63% of the 44 isolates showed color changes on dermatophyte test medium (DTM). When we tested the growth ability of 44 isolates at 37degrees C, 45% of the isolates were able to grow. These results show that pet dogs could carry fungi having a potentiality of affecting on human health.
Alternaria ; Animals ; Arthrodermataceae ; Aspergillus ; Beauveria ; Chrysosporium ; Cladosporium ; DNA, Ribosomal ; Dogs* ; Fungi* ; Hair ; Hospitals, Animal ; Humans ; Korea ; Penicillium ; Scopulariopsis ; Sequence Analysis ; Skin ; Trichoderma

PURPOSE: To demonstrate the effectiveness of the conservative treatment which was introduced to the extraarticular triplane fractures of the distal tibia. MATERIALS AND METHODS: We reviewed radiographs and medical records of eight patients with extraarticular triplane fractures of the tibia. Four patients were treated with closed reduction and internal fixation and the others with closed reduction and plaster. RESULTS: In all patients, the union of fractures was obtained. Although the physes were closed early, there was no angular deformity or leg length discrepancy. CONCLUSION: In case of extraarticular triplane fracture, except for open fracture or failure of closed reduction, conservative treatment yield good result.
Child* ; Congenital Abnormalities ; Fractures, Open ; Humans ; Leg ; Medical Records ; Tibia*

A case with carcinoid tumor of the appendix was encountered incidentally during an elective abdominal surgery for borderline mucinous ovarian tumor in a 16-year old female. Carcinoid tumor of appendix is the most common neoplasm of the gastrointestinal tract in childhood and adolesence. They are usually regarded as a benign neoplasm and an uncommon source of metastasis and recurrence. We report this case with reference to the value of grosss examination of the appendix and incidental appendectomy during gynecologic abdominal operations.
Adolescent ; Appendectomy ; Appendix* ; Carcinoid Tumor* ; Female ; Gastrointestinal Tract ; Humans ; Mucins* ; Neoplasm Metastasis ; Recurrence

Uterine lipoleiomyoma are rare benign tumors consisting of smooth muscle and mature adipose tissue. Because of their rarity, fat content, and variable gross morphology, they may be mistaken on radiodiagnosis for the much more common benign cystic ovarian teratoma. The key to differentiate these lesions is the identification of the organ of origin. A mass that arises from the uterus is most likely a lipomatous uterine tumors. Because malignant degeneration occurs in 1-2% of benign cystic ovarian teratomas, their differentiation can be clinically significant. While these tumors are treated by surgical excision, asymptomatic lipomatous uterine tumors and benign pelvic lipomas may require no therapy. The fatty nature of the lipoleiomyoma was demonstrated with standard spin-echo Magnetic resonance imaging (MRI) and further supported using fat- suprressed inversion recovery MRI. MRI also clearly depicted the intrauterine location of the tumor. We report a case in which a preoperative diagnosis of a uterine lipoleiomyoma was made with MRI and fat suppressed MRI.
Adipose Tissue ; Diagnosis ; Lipoma ; Magnetic Resonance Imaging ; Muscle, Smooth ; Teratoma ; Uterus

Total abdominal hystrectomy is the most common surgery of Gynecology. It's complication are taken very important. Although neuropathy, especially femoral nerve injury, is rare, recently we have experienced a case of femoral neuropathy after total abdominal hystrectomy. We present this case with a brief review of literature.
Femoral Nerve* ; Femoral Neuropathy ; Gynecology

In the management of the traumatized gravid and her fetus, diagnostic tests and therapy should be directed primarily at the care of the mother and should not be delayed or compromised because of the pregnancy. Because many factors can damage when the mother is unconscious, fetal well-being should be assessed by serial biophysical profile scoring. If the mother's condition is stable as in the chronic vegetative state, elective delivery might best be performed at a gestational age of 32 to 34 weeks.
Diagnostic Tests, Routine ; Fetus ; Gestational Age ; Humans ; Mothers ; Persistent Vegetative State* ; Pregnancy*