GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student's t-tests or analysis of variance followed by Tukey's multiple comparison test was used as statistical analysis. Biochemical coupling was significantly reduced in connexin 26 (Cx26)-R75Q- and Cx26-V37I-transfected cells, with greater extent in Cx26-R75Q and Cx26-R75Q+V37I cells. Interestingly, our patient and his father with the mutations had more residual hearing compared with patients with the dominant mutation alone. Although the difference in hemichannel activity between R75Q alone and R75Q in combination with V37I failed to reach significance, it is of note that there is a possibility that V37I located upstream of R75Q might have the ability to ameliorate R75Q expression. Our study emphasizes the importance of cis mutations with R75Q, as the gene effect of R75Q can be modulated depending on the type of additional mutation.
Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group/genetics ; Child, Preschool ; Connexins/analysis/*genetics ; Female ; HEK293 Cells ; Hearing Loss/*genetics ; Humans ; Male ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Pedigree ; *Point Mutation

We aimed to examine whether there is a correlation between the health recovery of industrial accident victims and their perceived socioeconomic status. Data were obtained from the first Panel Study of Worker's Compensation Insurance, which included 2,000 participants. We performed multivariate regression analysis and determined the odds ratios for participants with a subjectively lower socioeconomic status and for those with a subjectively lower middle socioeconomic status using 95% confidence intervals. An additional multivariate regression analysis yielded the odds ratios for participants with a subjectively lower socioeconomic status and those with a subjectively upper middle socioeconomic class using 95% confidence intervals. Of all participants, 299 reported a full recovery, whereas 1,701 did not. We examined the odds ratio (95% confidence intervals) for participants' health recovery according to their subjective socioeconomic status while controlling for sex, age, education, tobacco use, alcohol use, subjective state of health prior to the accident, chronic disease, employment duration, recovery period, accident type, disability status, disability rating, and economic participation. The odds of recovery in participants with a subjectively lower middle socioeconomic status were 1.707 times greater (1.264-2.305) than that of those with a subjectively lower socioeconomic status. Similarly, the odds of recovery in participants with a subjectively upper middle socioeconomic status were 3.124 times greater (1.795-5.438) than that of those with a subjectively lower socioeconomic status. Our findings indicate that participants' perceived socioeconomic disparities extend to disparities in their health status. The reinforcement of welfare measures is greatly needed to temper these disparities.
Accidents, Occupational/psychology/*statistics & numerical data ; Adult ; Age Factors ; Cross-Sectional Studies ; Female ; Health Status Disparities ; Humans ; Insurance Benefits ; Male ; Middle Aged ; Odds Ratio ; Regression Analysis ; Republic of Korea ; Sex Factors ; *Social Class ; Workers' Compensation

We aimed to examine whether there is a correlation between the health recovery of industrial accident victims and their perceived socioeconomic status. Data were obtained from the first Panel Study of Worker's Compensation Insurance, which included 2,000 participants. We performed multivariate regression analysis and determined the odds ratios for participants with a subjectively lower socioeconomic status and for those with a subjectively lower middle socioeconomic status using 95% confidence intervals. An additional multivariate regression analysis yielded the odds ratios for participants with a subjectively lower socioeconomic status and those with a subjectively upper middle socioeconomic class using 95% confidence intervals. Of all participants, 299 reported a full recovery, whereas 1,701 did not. We examined the odds ratio (95% confidence intervals) for participants' health recovery according to their subjective socioeconomic status while controlling for sex, age, education, tobacco use, alcohol use, subjective state of health prior to the accident, chronic disease, employment duration, recovery period, accident type, disability status, disability rating, and economic participation. The odds of recovery in participants with a subjectively lower middle socioeconomic status were 1.707 times greater (1.264-2.305) than that of those with a subjectively lower socioeconomic status. Similarly, the odds of recovery in participants with a subjectively upper middle socioeconomic status were 3.124 times greater (1.795-5.438) than that of those with a subjectively lower socioeconomic status. Our findings indicate that participants' perceived socioeconomic disparities extend to disparities in their health status. The reinforcement of welfare measures is greatly needed to temper these disparities.
Accidents, Occupational/psychology/*statistics & numerical data ; Adult ; Age Factors ; Cross-Sectional Studies ; Female ; Health Status Disparities ; Humans ; Insurance Benefits ; Male ; Middle Aged ; Odds Ratio ; Regression Analysis ; Republic of Korea ; Sex Factors ; *Social Class ; Workers' Compensation

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.
Aged, 80 and over ; Antigens, CD5/*metabolism ; Bone Marrow/immunology/metabolism ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Gene Rearrangement ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, Mantle-Cell/*diagnosis/genetics/immunology ; Male ; Oncogene Proteins, Fusion/*genetics ; Proto-Oncogene Proteins c-myc/*genetics ; Translocation, Genetic

The publisher wishes to apologize for incorrectly displaying the author (Ju Hyung Lee) name.

BACKGROUND: Equol, a metabolite of diadzein, is produced by some intestinal bacteria. Equol acts as an estrogen receptor agonist and has been reported to have several beneficial health effects. Leukocytes play an important role in the pathogenesis of autoimmune, metabolic, and cardiovascular diseases. Decreased leukocyte mitochondrial DNA (mtDNA) content, as an index of mitochondrial function, is associated with metabolic syndrome, bone mineral density, and aging. The possible association between equol production and leukocyte mitochondrial function has not been studied to date. Therefore, we investigated whether equol production is associated with leukocyte mtDNA copy number in postmenopausal women. METHODS: This observational cross-sectional study included 71 postmenopausal women. They completed a lifestyle questionnaire and medical history. In addition, a dietary assessment using a 24-hour recall method and food frequency questionnaire, anthropometric evaluation, and blood sampling were conducted. Serum equol concentration was measured in the fasting state. Leukocyte mtDNA copy number was measured by real-time polymerase chain reaction. RESULTS: Among older females, 33.8% were equol producers. The leukocyte mtDNA copy number was lower in non-equol producers versus equol producers. Furthermore, the leukocyte mtDNA copy number was positively associated with the serum equol concentration (r=0.42, P<0.01). Stepwise multiple regression analysis showed that equol production (beta=47.864, P<0.01) was an independent factor associated with mtDNA copy number. CONCLUSIONS: Equol production was associated with elevated mtDNA content in the peripheral blood of postmenopausal women. This finding suggests that the beneficial health effects of equol in postmenopausal women may be related to increased mitochondrial function.
Aging ; Bacteria ; Bone Density ; Cardiovascular Diseases ; Cross-Sectional Studies ; DNA ; DNA, Mitochondrial* ; Equol* ; Estrogens ; Fasting ; Female ; Humans ; Leukocytes* ; Life Style ; Mitochondria ; Postmenopause ; Real-Time Polymerase Chain Reaction

Mediastinal tuberculous lymphadenitis rarely mimics esophageal submucosal tumor, particularly in the case of multidrug-resistant tuberculosis (MDR-TB). Herein, we report the case of a 61-year-old woman who visited a local hospital complaining of odynophagia. An initial esophagogastroduodenoscopy revealed an esophageal submucosal tumor, and subsequent chest computed tomography showed subcarinal lymphadenopathy with an esophagomediastinal fistula. The patient was then referred to Samsung Medical Center, and a second esophagogastroduodenoscopy showed deep central ulceration, as well as a suspicious fistula in the esophageal submucosal tumor-like lesion. A biopsy examination of the ulcerative lesion confirmed focal inflammation only. Next, an endobronchial, ultrasound-guided lymph node biopsy was performed, and TB was confirmed. The patient initially began a course of isoniazid, rifampicin, ethambutol, and pyrazinamide. However, after a drug sensitivity test, she was diagnosed with MDR-TB, and second-line anti-TB medications were prescribed. She recovered well subsequently.
Biopsy ; Endoscopy, Digestive System ; Esophageal Fistula ; Ethambutol ; Female ; Fistula* ; Humans ; Inflammation ; Isoniazid ; Lymph Nodes ; Lymphadenitis* ; Lymphatic Diseases ; Middle Aged ; Pyrazinamide ; Rifampin ; Thorax ; Tuberculosis ; Tuberculosis, Lymph Node ; Tuberculosis, Multidrug-Resistant ; Ulcer

Respiratory involvement in Crohn disease (CD) is rare condition with only about a dozen reported cases. We report the first case of CD with tracheal involvement in Korea. An 18-year-old woman with CD was hospitalized because of coughing, dyspnea, and fever sustained for 3 weeks. Because she had stridor in her neck, we performed computed tomography of the neck, which showed circumferential wall thickening of the larynx and hypopharynx. Bronchoscopy revealed mucosal irregularity, ulceration, and exudates debris in the proximal trachea, and bronchial biopsy revealed chronic inflammation with granulation tissue. Based on these findings, we suspected CD with tracheal involvement and began administering intravenous methylprednisolone at 1 mg/kg per day, after which her symptoms and bronchoscopic findings improved.
Adolescent ; Biopsy ; Bronchoscopy ; Cough ; Crohn Disease* ; Dyspnea ; Exudates and Transudates ; Female ; Fever ; Granulation Tissue ; Humans ; Hypopharynx ; Inflammation ; Inflammatory Bowel Diseases ; Korea* ; Larynx ; Methylprednisolone ; Neck ; Respiratory Sounds ; Trachea ; Ulcer

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious zoonosis caused by the SFTS virus. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome associated with excessive immune activation. Cytokine storms are often seen in both SFTS and HLH, resulting in rapid disease progression and poor prognosis. The aim of this study was to identify whether SFTS cases complicated by HLH are related to higher rates of mortality. Descriptive analysis of the frequency of clinical and laboratory data, complications, treatment outcomes, and HLH-2004 criteria was performed. Cases presenting with five or more clinical or laboratory findings corresponding to the HLH-2004 diagnostic criteria were defined as SFTS cases complicated by HLH. Eighteen cases of SFTS were identified during a 2-year study period, with a case-fatality proportion of 22.2% (4 among 18 cases, 95% confidence interval 9%–45.2%). SFTS cases complicated by HLH were identified in 33.3% (6 among 18 cases). A mortality rate of 75% (3 among 4 cases) was recorded among SFTS cases complicated by HLH. Although there were no statistically significant differences in outcomes, fatal cases exhibited more frequent correlation with HLH-2004 criteria than non-fatal cases [3/14 (21.4%) vs. 3/4 (75%), p=0.083]. In conclusion, the present study suggests the possibility that SFTS cases complicated by HLH are at higher risk of poor prognosis.
Disease Progression ; Fatal Outcome ; Fever ; Lymphohistiocytosis, Hemophagocytic ; Mortality ; Prognosis ; Thrombocytopenia

Human embryonic stem cell (hESC) culture system has been changing culture conditions from conventional to xeno-free for therapeutic cell applications, and N-glycolylneuraminic acid (Neu5Gc) could be a useful indicator of xenogeneic contaminations in hESCs because human cells can no longer produce it genetically. We set up the humanized culture condition using commercially available humanized materials and two different adaptation methods: sequential or direct. SNUhES4 and H1 hESC lines, previously established in conventional culture conditions, were maintained using the humanized culture condition and were examined for the presence of Neu5Gc. The hESCs showed the same morphology and character as those of the conventional culture condition. Moreover, they were negative for Neu5Gc within two passages without loss of pluripotency. This study suggested that this method can effectively cleanse previously established hESC lines, bringing them one step closer to being clinical-grade hESCs.
Human Embryonic Stem Cells* ; Humans* ; Methods