PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. MATERIALS AND METHODS: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. RESULTS: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. CONCLUSION: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.
Anus, Imperforate ; Chromosomes, Human, Pair 15 ; Cytogenetics ; Genetic Association Studies ; Genetic Counseling ; Hearing ; Humans ; Phenotype ; Strabismus

Illegally paid blood donation was a risk factor for HIV acquisition exclusively in Henan and Hubei Provinces of China, and not in Shanghai. Nucleotide sequences in the gag and env genes of HIV-1 were compared between isolates from Henan and Shanghai regions of China to test whether an expected higher degree of a common source of infections from this unique blood donation transmission risk would be evident as decreased variation among Henan isolates in an exploratory cross-sectional analysis. Among 38 isolates studied, 23 of 23 (100%) from Henan and 8 of 15 (54%) from Shanghai were subtype B. In addition, fewer sequence differences were found in gp41 of subtype B isolates from Henan than from Shanghai isolates. Further studies with additional controls are therefore warranted to confirm the role of the degree of a common source of infections in differences in HIV variation across populations.

Fixed-dose combinations development requires pharmacokinetic drugdrug interaction (DDI) studies between active ingredients. For some drugs, pharmacokinetic properties such as long half-life or delayed distribution, make it difficult to conduct such clinical trials and to estimate the exact magnitude of DDI. In this study, the conventional (non-compartmental analysis and bioequivalence [BE]) and modelbased analyses were compared for their performance to evaluate DDI using amlodipine as an example. Raw data without DDI or simulated data using pharmacokinetic models were compared to the data obtained after concomitant administration.Regardless of the methodology, all the results fell within the classical BE limit. It was shown that the model-based approach may be valid as the conventional approach and reduce the possibility of DDI overestimation. Several advantages (i.e., quantitative changes in parameters and precision of confidence interval) of the model-based approach were demonstrated, and possible application methods were proposed. Therefore, it is expected that the model-based analysis is appropriately utilized according to the situation and purpose.

The interplay between host cell genetics and Epstein-Barr virus (EBV) infection contributes to the development of nasopharyngeal carcinoma (NPC). Understanding the host genetic and epigenetic alterations and the influence of EBV on cell signaling and host gene regulation will aid in understanding the molecular pathogenesis of NPC and provide useful biomarkers and targets for diagnosis and therapy. In this review, we provide an update of the oncogenes and tumor suppressor genes associated with NPC, as well as genes associated with NPC risk including those involved in carcinogen detoxification and DNA repair. We also describe the importance of host genetics that govern the human leukocyte antigen (HLA) complex and immune responses, and we describe the impact of EBV infection on host cell signaling changes and epigenetic regulation of gene expression. High-power genomic sequencing approaches are needed to elucidate the genetic basis for inherited susceptibility to NPC and to identify the genes and pathways driving its molecular pathogenesis.
Carcinoma ; Epigenesis, Genetic ; Epstein-Barr Virus Infections ; Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; Herpesvirus 4, Human ; genetics ; Humans ; Nasopharyngeal Neoplasms ; etiology ; Oncogenes ; Signal Transduction

Anesthesia for a patient with a large mediastinal mass is a challenge for anesthesiologists, given the risk of airway collapse and hemodynamic compromise. Moreover, there are very few reports on the anesthetic management of non-intubated video-assisted thoracoscopic surgery (VATS). Thus, in the following case report, we provide an account of the successful anesthetic management and excisional biopsy of a large anterior mediastinal mass (measuring 13 × 10 cm) utilizing non-intubated VATS. The patient was kept awake, maintaining consciousness and spontaneous respiration throughout the procedure, in order to prevent devastating airway collapse and pain control and cough prevention were achieved by thoracic epidural analgesia and lidocaine nebulization.
Analgesia, Epidural ; Anesthesia ; Anesthesia, Epidural* ; Biopsy* ; Consciousness ; Cough ; Hemodynamics ; Humans ; Lidocaine ; Respiration ; Thoracic Surgery, Video-Assisted

BACKGROUND: Invasive and life-threatening infections such as meningitis, pericarditis, peritonitis, empyema, and septic arthritis are diagnosed via culture of relevant body fluids (BFs). The blood culture system (BCS) has been reported to be a useful alternative for BFs culture to enhance recovery of fastidious microorganisms and reduce detection time. The aim of this study was to evaluate the diagnostic performance of BCS as compared to conventional culture method (CCM) in terms of culture yield. METHODS: The samples collected between October 2011 and September 2012 were processed using CCM, while those collected between October 2012 and September 2013 were processed using BCS. The 2 processes were compared in terms of total number of requests, recovery rate, turnaround time (TAT), and detection time. RESULTS: The positive rate using CCM was 18.2% (575/3,151), where 845 isolates were recovered from 575 specimens. Using BCS, the positive rate was 28.3% (922/3,260), where 1,472 isolates were recovered from 922 specimens. While comparing the 2 methods on terms of yield of clinically significant isolates, a greater number of fungi (1.2%) and anaerobic bacteria (1.4%) were recovered using BCS as compared to using CCM. The difference in TAT for positive samples was 24 hours and 40 minutes, where BCS had a shorter TAT than CCM. The mean detection time of 951 positive samples by BCS was 19 hours and 56 minutes. Growth of clinically significant isolates was detected within 24 hours. CONCLUSIONS: BCS for culture of BFs showed an improvement in recovery rate, number of isolates, and TAT as compared to CCM. Thus, BCS is a suitable alternative for culture of BFs.
Arthritis, Infectious ; Bacteria, Anaerobic ; Body Fluids* ; Empyema ; Fungi ; Meningitis ; Pericarditis ; Peritonitis

PURPOSE: We compared the predictive and prognostic values of leukocyte differential counts, systemic inflammatory (SIR) markers and cancer antigen 125 (CA-125) levels, and identified the most useful marker in patients with ovarian clear cell carcinoma (OCCC). MATERIALS AND METHODS: The study included 109 patients with OCCC who did not have any inflammatory conditions except endometriosis, and underwent primary debulking surgery between 1997 and 2012. Leukocyte differential counts (neutrophil, lymphocyte, monocyte, eosinophil, basophil, and platelet), SIR markers including neutrophil to lymphocyte ratio (NLR), monocyte to lymphocyte ratio (MLR), and platelet to lymphocyte ratio (PLR), and CA-125 levels were estimated to select potential markers for clinical outcomes. RESULTS: Among potential markers (neutrophil, monocyte, platelet, NLR, MLR, PLR, and CA-125 levels) selected by stepwise comparison, CA-125 levels were best at predicting advanced stage disease, suboptimal debulking and platinum-resistance (cut-off values, > or = 46.5, > or = 11.45, and > or = 66.4 U/mL; accuracies, 69.4%, 78.7%, and 68.5%) while PLR > or = 205.4 predicted non-complete response (CR; accuracy, 71.6%) most accurately. Moreover, PLR < 205.4 was an independent factor for the reduced risk of non-CR (adjusted odds ratio, 0.17; 95% confidence interval [CI], 0.04 to 0.69), and NLR < 2.8 was a favorable factor for improved progression-free survival (PFS; adjusted hazard ratio, 0.49; 95% CI, 0.25 to 0.99) despite lack of a marker for overall survival among the potential markers. CONCLUSION: CA-125 levels may be the most useful marker for predicting advanced-stage disease. Suboptimal debulking and platinum-resistance, and PLR and NLR may be most effective to predict non-CR and PFS in patients with OCCC.
Adenocarcinoma, Clear Cell ; Basophils ; Blood Platelets ; CA-125 Antigen ; Cohort Studies* ; Disease-Free Survival ; Endometriosis ; Eosinophils ; Female ; Humans ; Leukocytes ; Lymphocytes ; Monocytes ; Neutrophils ; Odds Ratio ; Ovarian Neoplasms

Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe a der(X)t(X;Y)(p22.31;q11.22) translocation, detected by conventional cytogenetic analysis, in a male fetus at a gestational age of 16 weeks. Chromosomal analysis of parental blood confirmed that this chromosomal aberration had been maternally inherited. Array comparative genomic hybridization (CGH) analysis of fetal blood further indicated a nullisomy of Xp22.31-pter and a breakpoint between the STS and KAL1 genes. The STS, NLGN4, ARSE, CSF2RA, and SHOX genes are present in the region that was deleted, and are known to be related to conditions such as X-linked ichthyosis, chondrodysplasia punctata, mental retardation, and facial dysmorphism in humans. Prenatal ultrasonographic findings and autopsy results were consistent with Xp22.31-pter deletion phenotypes. Genetic counseling was provided for the mother. The observations from this case study indicate that advanced molecular techniques can provide a more precise prenatal diagnosis of chromosomal anomalies than conventional cytogenetics can.
Autopsy ; Chondrodysplasia Punctata ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Cytogenetics ; Fetal Blood ; Fetus ; Genetic Counseling ; Gestational Age ; Humans ; Ichthyosis ; Intellectual Disability ; Male ; Mothers ; Parents ; Phenotype ; Prenatal Diagnosis

PURPOSE: Although combining aromatase inhibitors (AI) with gonadotropin-releasing hormone agonists (GnRHa) is becoming more common, it is still not clear if GnRHa is as effective as bilateral salpingo-oophorectomy (BSO). MATERIALS AND METHODS: We retrospectively analyzed data of 66 premenopausal patients with hormone receptor– positive, human epidermal growth factor receptor 2–negative recurrent and metastatic breast cancer who had been treated with AIs in combination with GnRHa or BSO between 2002 and 2015. RESULTS: The median patient age was 44 years. Overall, 24 (36%) received BSO and 42 (64%) received GnRHa. The clinical benefit rate was higher in the BSO group than in the GnRHa group (88% vs. 69%, p=0.092). Median progression-free survival (PFS) was longer in the BSO group, although statistical significance was not reached (17.2 months vs. 13.3 months, p=0.245). When propensity score matching was performed, the median PFS was 17.2 months for the BSO group and 8.2 months for the GnRHa group (p=0.137). Multivariate analyses revealed that the luminal B subtype (hazard ratio, 1.67; 95% confidence interval [CI], 1.08 to 2.60; p=0.022) and later-line treatment (≥ third line vs. first line; hazard ratio, 3.24; 95% CI, 1.59 to 6.59; p=0.001) were independent predictive factors for a shorter PFS. Incomplete ovarian suppression was observed in a subset of GnRHa-treated patients whose disease showed progression, with E2 levels higher than 21 pg/mL. CONCLUSION: Both BSO and GnRHa were found to be effective in our AI-treated premenopausal metastatic breast cancer patient cohort. However, further studies in larger populations are needed to determine if BSO is superior to GnRHa.
Aromatase Inhibitors* ; Aromatase* ; Breast Neoplasms* ; Breast* ; Cohort Studies ; Disease-Free Survival ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Multivariate Analysis ; Ovariectomy ; Phenobarbital ; Premenopause ; Propensity Score ; Receptor, Epidermal Growth Factor ; Retrospective Studies

Upon his untimely death, Michal Boym (1612-1659) left behind an enormous written legacy; covering a diverse range of interests in fields such as Chinese linguistics, cartography, botany, zoology, philosophy and medicine. This article attempts to examine Boym's De indiciis morborum ex linguae coloribus & affectionibus (The signs of disease on the tongue, colors and affections), a translation of a previously unidentified Chinese text. The text specifically deals with the subject of tongue diagnosis, in relation to contagious diseases that were still raging in the 17th century China. Arriving to China at the end of the Ming Dynasty (1368-1644), Boym was able to personally witness the early development of tongue examination as an independent specialty; he recognized its significance and tried to incorporate it into his ultimately unfinished Chinese medical corpus. Boym's work eventually facilitated the assimilation of tongue observation in European medicine during the 19th century.