Point Mutation of Hoxd12 in Mice

Purpose: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with chemical mutagen, N-ethyl-N-nitrosourea (ENU). We analyzed mutant mice exhibiting the specific microdactyly phenotype and examined the genes affected. Materials and Methods: We focused on phenotype characteristics including size, bone formation, and digit morphology of ENU-induced microdactyly mice. The expressions of several molecules were analyzed by genome-wide screening and quantitative real-time PCR to define the affected genes. Results: We report on limb phenotypes of an ENU-induced A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine conversion. Microdactyly mice exhibited growth defects in the zeugopod and autopod, shortening of digits, a missing tip of digit I, limb growth affected, and dramatic increases in the expressions of Fgf4 and Lmx1b. However, the expression level of Shh was not changed Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. The precise nature of the spectrum of differences requires further investigation.link_to_subscribed_fulltex

Comparative analysis of multiple classification models to improve PM10 prediction performance

With the increasing requirement of high accuracy for particulate matter prediction, various attempts have been made to improve prediction accuracy by applying machine learning algorithms. However, the characteristics of particulate matter and the problem of the occurrence rate by concentration make it difficult to train prediction models, resulting in poor prediction. In order to solve this problem, in this paper, we proposed multiple classification models for predicting particulate matter concentrations required for prediction by dividing them into AQI-based classes. We designed multiple classification models using logistic regression, decision tree, SVM and ensemble among the various machine learning algorithms. The comparison results of the performance of the four classification models through error matrices confirmed the f-score of 0.82 or higher for all the models other than the logistic regression model

Effects of informative and confirmatory feedback on brain activation during negative feedback processing

The current study compared the effects of informative and confirmatory feedback on brain activation during negative feedback processing. For confirmatory feedback trials, participants were informed that they had failed the task, whereas informative feedback trials presented task relevant information along with the notification of their failure. Fourteen male undergraduates performed a series of spatial-perceptual tasks and received feedback while their brain activity was recorded. During confirmatory feedback trials, greater activations in the amygdala, dorsal anterior cingulate cortex, and the thalamus (including the habenular) were observed in response to incorrect responses. These results suggest that confirmatory feedback induces negative emotional reactions to failure. In contrast, informative feedback trials elicited greater activity in the dorsolateral prefrontal cortex (DLPFC) when participants experienced failure. Further psychophysiological interaction (PPI) analysis revealed a negative coupling between the DLPFC and the amygdala during informative feedback relative to confirmatory feedback trials. These findings suggest that providing task-relevant information could facilitate implicit down-regulation of negative emotions following failure

mtDNAmanager: a Web-based tool for the management and quality analysis of mitochondrial DNA control-region sequences

BACKGROUND: For the past few years, scientific controversy has surrounded the large number of errors in forensic and literature mitochondrial DNA (mtDNA) data. However, recent research has shown that using mtDNA phylogeny and referring to known mtDNA haplotypes can be useful for checking the quality of sequence data. RESULTS: We developed a Web-based bioinformatics resource "mtDNAmanager" that offers a convenient interface supporting the management and quality analysis of mtDNA sequence data. The mtDNAmanager performs computations on mtDNA control-region sequences to estimate the most-probable mtDNA haplogroups and retrieves similar sequences from a selected database. By the phased designation of the most-probable haplogroups (both expected and estimated haplogroups), mtDNAmanager enables users to systematically detect errors whilst allowing for confirmation of the presence of clear key diagnostic mutations and accompanying mutations. The query tools of mtDNAmanager also facilitate database screening with two options of "match" and "include the queried nucleotide polymorphism". In addition, mtDNAmanager provides Web interfaces for users to manage and analyse their own data in batch mode. CONCLUSION: The mtDNAmanager will provide systematic routines for mtDNA sequence data management and analysis via easily accessible Web interfaces, and thus should be very useful for population, medical and forensic studies that employ mtDNA analysis. mtDNAmanager can be accessed at http://mtmanager.yonsei.ac.krope

Association between serum alanine aminotransferase level and obesity indices in Korean adolescents

PurposeTo analyze the correlation between serum alanine aminotransferase (ALT) and obesity indices including body mass index (BMI), body fat percentage (BFP), total fat mass (FM), truncal fat mass (TFM), waist circumference (WC), and waist-to-height ratio (WHtR) in Korean adolescents.MethodsThis was a cross-sectional study based on data derived from the 2010-2011 Korean National Health and Nutrition Examination Surveys (KNHANES). Subjects were Korean adolescents aged 10-18 years (871 total; 475 boys and 396 girls) who participated in KNHANES.ResultsIn both sexes, BMI, FM, TFM, WC, and WHtR were higher when ALT levels were in the 4th quartile. In boys, there was a significant positive correlation between ALT level and BMI, BFP, FM, TFM, WC, and WHtR (r=0.55, P<0.0001 for BMI; r=0.52, P<0.0001 for BFP; r=0.58, P<0.0001 for FM; r=0.61, P<0.0001 for TFM; and r=0.56, P<0.0001 for WC; r=0.62, P<0.0001 for WHtR), and the correlation coefficient was higher than that in girls.ConclusionOur results suggest a significant positive association between serum ALT level and obesity indices in male adolescents

The Benefits and Risks of Prophylactic Central Neck Dissection for Papillary Thyroid Carcinoma: Prospective Cohort Study

Objectives. This study evaluated the benefits of performing prophylactic central neck dissection (CND) with total thyroidectomy (TT) in management of papillary thyroid carcinoma (PTC) patients who were clinically node-negative at presentation. Methods. A total of 257 patients with stage T1 or T2 PTC and without preoperative evidence of lymph node involvement (N0) were enrolled in this prospective study. The patients were randomly assigned to two groups: (1) a total thyroidectomy (TT) group (n=104) or (2) a TT plus CND group (n=153). The two groups were compared for their perioperative data, complication rates, disease recurrence rates, and clinical outcomes. Results. The two groups of patients were similar in age, sex ratio, follow-up duration, and tumor size (P=0.227, 0.359, 0.214, and 0.878, resp.). The two groups showed similar rates of disease recurrence (3.9% in the TT group versus 3.3% in the TT plus CND group); however, complications occurred more frequently in the TT plus CND group; especially transient hypocalcemia (P=0.043). Conclusions. Patients treated with TT plus CND had a higher rate of complications with similar recurrence rate. We believe that CND may not be routinely recommended when treating patients with PTC

Could Fractional Exhaled Nitric Oxide Test be Useful in Predicting Inhaled Corticosteroid Responsiveness in Chronic Cough? A Systematic Review

© 2016 Background Fractional exhaled nitric oxide (FENO) is a safe and convenient test for assessing T H 2 airway inflammation, which is potentially useful in the management of patients with chronic cough. Objective To summarize the current evidence on the diagnostic usefulness of FENO for predicting inhaled corticosteroid (ICS) responsiveness in patients with chronic cough. Methods A systematic literature review was conducted to identify articles published in peer-reviewed journals up to February 2015, without language restriction. We included studies that reported the usefulness of FENO (index test) for predicting ICS responsiveness (reference standard) in patients with chronic cough (target condition). The data were extracted to construct a 2 × 2 accuracy table. Study quality was assessed with Quality Assessment of Diagnostic Accuracy Studies 2. Results We identified 5 original studies (2 prospective and 3 retrospective studies). We identified considerable heterogeneities in study design and outcome definitions, and thus were unable to perform a meta-analysis. The proportion of ICS responders ranged from 44% to 59%. Sensitivity and specificity ranged from 53% to 90%, and from 63% to 97%, respectively. The reported area under the curve ranged from abou t 0.60 to 0.87; however, studies with a prospective design and a lower prevalence of asthma had lower area under the curve values. None measured placebo effects or objective cough frequency. Conclusions We did not find strong evidence to support the use of FENO tests for predicting ICS responsiveness in chronic cough. Further studies need to have a randomized, placebo-controlled design, and should use validated measurement tools for cough. Standardization would facilitate the development of clinical evidence