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Huntington’s disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of huntingtin’s normal activities to the gain-of-function mechanism and what the effects of huntingtin-lowering might be are unclear. Here, we have re-investigated a rare family segregating two presumed HTT loss-of-function (LoF) variants associated with the developmental disorder, Lopes-Maciel-Rodan syndrome (LOMARS), using whole-genome sequencing of DNA from cell lines, in conjunction with analysis of mRNA and protein expression. Our findings correct the muddled annotation of these HTT variants, reaffirm they are the genetic cause of the LOMARS phenotype and demonstrate that each variant is a huntingtin hypomorphic mutation. The NM_002111.8: c.4469+1G>A splice donor variant results in aberrant (exon 34) splicing and severely reduced mRNA, whereas, surprisingly, the NM_002111.8: c.8157T>A NP_002102.4: Phe2719Leu missense variant results in abnormally rapid turnover of the Leu2719 huntingtin protein. Thus, although rare and subject to an as yet unknown LoF intolerance at the population level, bona fide HTT LoF variants can be transmitted by normal individuals leading to severe consequences in compound heterozygotes due to huntingtin deficiency.

Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G&gt, A, p.(Gly1078Asp) in Family 1 and c.1171G&gt, A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP.

Objective The suicide rate in South Korea was the second highest among the Organization for Economic Cooperation and Development countries in 2017. The purpose of this study is to understand the characteristics of people who died by suicide in Korea from 2013-2017 and to better prevent suicide. Methods This study was performed by the Korea Psychological Autopsy Center (KPAC), an affiliate of the Korea Ministry of Health and Welfare. According to the Korea National Statistical Office, the number of suicide victims nationwide was estimated to reach about 70,000 from 2013 to 2017. Comprehensive suicide records from all 254 police stations in South Korea were evaluated by 32 investigators who completed a 14-day didactic training program. Then, we evaluated the characteristics of suicide victims in association with disease data from the National Health Insurance Database (NHID), which is anonymously linked to personal information of suicide victims. Results Thirty-one of 254 police stations in the Seoul metropolitan area were analyzed by August 10, 2018. Findings showed that the characteristics of suicide victims differed according to the nature of the region. Conclusion Our results suggest that different strategies and methods are needed to prevent suicide by regional groups.

Objective To compare the risk of depressive symptoms in adults with physical disabilities between rehabilitationreceivers and non-receivers. Methods A total of 3,568 adults with physical disabilities were retrieved from the 2014 Korean National Survey on People with Disabilities database. Four covariate adjustment methods (a multivariable regression model, inverse probability of treatment weighting [IPTW] adjusted for normalized weight, IPTW with stabilized weight, and greedy algorithm with 1:1 propensity score matching) were used to estimate the odds of having depressive symptoms. The dependent variable was depressive symptoms and the independent variable was the use of rehabilitation services. Baseline covariates were 19 demographic variables and 10 chronic condition variables. Results The four covariate adjustment methods revealed that adults with physical disabilities receiving rehabilitation services had a higher risk of depressive symptoms than those who did not receive these services (adjusted odds ratio, 1.191-1.294). Conclusion Our findings suggest that adults with physical disabilities receiving rehabilitation services have higher risk of developing depressive symptoms. Therefore, rehabilitation professionals need to pay attention to depressive symptoms and establish therapeutic strategies that can reduce such risk in rehabilitation settings.

Objective The purpose of this study was to establish the prevalence of PTSD among North Korean defectors who visited the National Medical Center, Seoul, South Korea over a period of approximately 10 years by examining their medical records and to examine differences in the medical service usage patterns of patients with and without PTSD.Methods Data from North Korean defectors who used outpatient services at the National Medical Center during a period of 10 years and 3 months (January 1 2006 to February 28, 2016) were analyzed. The general characteristics of the defectors were analyzed by frequency analyses, and descriptive statistics were generated. Additionally, independent t-tests and chi square analyses were performed to examine differences between PTSD patients and those without PTSD. Linear regression analysis was performed to examine factors affecting the mental health of North Korean defectors suffering from PTSD.Results This study assessed the correlations between PTSD, the average number of outpatient visits, and the total revenue. The regression analysis showed a relationship between PTSD and the average number of outpatient visits. There was also a correlation between PTSD and total revenue. The average number of outpatient visits was 41.8 for PTSD patients, whereas it was 33.2 for those without PTSD. The. total revenue visit was 953.6 USD for PTSD sufferers and 231.1 USD for those without PTSD.Conclusion This study found that the majority of North Korean defectors visit psychiatry departments, and that PTSD patients use outpatient services more frequently and have higher total revenue than those without PTSD. Additionally, patients with PTSD used a greater variety of medical services. Considering the high medical care expenses of North Korean defectors residing in South Korea, future investigations should examine the medical service usage patterns of such patients, especially those diagnosed with PTSD, in greater detail.

Amelogenesis imperfecta (AI) is a collection of rare genetic conditions affecting tooth enamel. The affected enamel can be of insufficient quantity and/or altered quality, impacting structural content, surface integrity and coloration. Heterozygous mutations in ENAM result in hypoplastic AI without other syndromic phenotypes, with variable expressivity and reduced penetrance, unlike other AI-associated genes. In this study, we recruited a Caucasian family with hypoplastic AI. Mutational analysis (using whole exome sequencing) revealed a splicing donor site mutation (NM_031889.3: c. −61 + 1G > A). Mutational effects caused by this variant were investigated with a minigene splicing assay and in vitro expression analysis. The mutation resulted in a retention of intron 1 and exon 2 (a normally skipped exon), and this elongated 5′ UTR sequence attenuated the translation from the mutant mRNA. Structure and translation predictions raised the possibility that the long complex structures—especially a hairpin structure located right before the translation initiation codon of the mutant mRNA—caused reduced protein expression. However, there could be additional contributing factors, including additional uORFs. For the first time, we determined that a mutation altered the ENAM 5′ UTR, but maintained the normal coding amino acid sequence, causing hypoplastic AI.

Watermeal, Wolffia australiana, is the smallest known flowering monocot and is rich in protein. Despite its great potential as a biotech crop, basic research on Wolffia is in its infancy. Here, we generated the reference genome of a species of watermeal, W. australiana, and identified the genome-wide features that may contribute to its atypical anatomy and physiology, including the absence of roots, adaxial stomata development, and anaerobic life as a turion. In addition, we found evidence of extensive genome rearrangements that may underpin the specialized aquatic lifestyle of watermeal. Analysis of the gene inventory of this intriguing species helps explain the distinct characteristics of W. australiana and its unique evolutionary trajectory., Halim Park and Jin Hwa Park et al. report the nuclear genome sequence of the duckweed Wolffia australiana, the smallest known flowering plant. The genome assembly represents an improvement over a recently published genome and highlights genome rearrangements that may be linked to its specialized aquatic adaptations.

The availability of large-scale, collateral mRNA expression and RNAi data from diverse cancer cell types provides useful resources for the discovery of anticancer targets for which inhibitory efficacy can be predicted from gene expression. Here, we calculated bidirectional cross-association scores (predictivity and descriptivity) for each of approximately 18,000 genes identified from mRNA and RNAi (i.e., shRNA and sgRNA) data from colon cancer cell lines. The predictivity score measures the difference in RNAi efficacy between cell lines with high vs. low expression of the target gene, while the descriptivity score measures the differential mRNA expression between groups of cell lines exhibiting high vs. low RNAi efficacy. The mRNA expression of 90 and 74 genes showed significant (p &lt, 0.01) cross-association scores with the shRNA and sgRNA data, respectively. The genes were found to be from diverse molecular classes and have different functions. Cross-association scores for the mRNA expression of six genes (CHAF1B, HNF1B, HTATSF1, IRS2, POLR2B and SATB2) with both shRNA and sgRNA efficacy were significant. These genes were interconnected in cancer-related transcriptional networks. Additional experimental validation confirmed that siHNF1B efficacy is correlated with HNF1B mRNA expression levels in diverse colon cancer cell lines. Furthermore, KIF26A and ZIC2 gene expression, with which shRNA efficacy displayed significant scores, were found to correlate with the survival rate from colon cancer patient data. This study demonstrates that bidirectional predictivity and descriptivity calculations between mRNA and RNAi data serve as useful resources for the discovery of predictive anticancer targets.

As private tutoring has expanded worldwide, it has been noted that private tutoring and associated emotional distress can affect sleep duration and the health of adolescent students. However, the relationships between extra-school tutoring time, somatic symptoms, defined as physical symptoms of emotional distress, and sleep duration in adolescents has rarely been determined. The aim of this study was to identify these relationships in adolescent students. Data from the Korean Children and Youth Panel Survey were analyzed to address the research questions. Weekday sleep duration, extra-school tutoring time, and somatic symptoms were measured using adolescents&rsquo, self-report questionnaires. A multilevel, structural equation model was utilized to test the relationships between these variables and was deemed appropriate considering the repeated measure of the panel data. After controlling for respondent sex, parent working status and education level, and family structure, adolescents&rsquo, extra-school tutoring time and level of somatic symptoms were associated with sleep duration during weekdays. Furthermore, the association between extra-school tutoring time and sleep duration was partially mediated by somatic symptoms. Korean adolescent students slept less than the recommended duration. Intervention programs that increase parental interest and attention in adolescent students&rsquo, lives, not only focused on academic achievement but also emotional distress is needed. Researchers and policymakers should understand recommended age-appropriate sleep duration and the educational culture and provide balanced strategies between the consideration of the effect of private education on academic achievement and the need to guarantee physical and mental health in adolescent students.

Objectives To examine real-time relationships between social interactions and poststroke mood and somatic symptoms in participants’ daily environments. Design Prospective observational study using smartphone-based ecological momentary assessment (EMA) surveys 5 times a day for 2 weeks. Multilevel models were used to analyze data for concurrent and lagged associations. Setting Community. Participants Adults (N=48) with mild stroke. Interventions Not applicable. Main Outcome Measures EMA measures of self-appraisal of social interactions (confidence, satisfaction, and success), as well as mood (depression and anxiety) and somatic (pain and fatigue) symptoms. Results In concurrent associations, increased depressed mood was associated with reduced ratings of all aspects of social interactions. Fatigue was associated with reduced ratings of social satisfaction and success. In lagged associations, increased anxious mood preceded increased subsequent social confidence. Higher average social satisfaction, confidence, and success were related to lower momentary fatigue, anxious mood, and depressed mood at the next time point. Regarding clinicodemographic factors, being employed was concurrently related to increased social interactions. An increased number of comorbidities predicted higher somatic, but not mood, symptoms at the next time point. Conclusions This study provides preliminary evidence of dynamic relationships between social interactions and somatic and mood symptoms in individuals with mild stroke. Interventions to not only address the sequelae of symptoms, but also to promote participation in social activities in poststroke life should be explored.

OBJECTIVE: To compare the effectiveness of non-pharmacological interventions on depressive symptoms in people after stroke. DATA SOURCES: A literature search was performed through the following databases from January 2000 to August 2018: MEDLINE; CINAHL Plus; Scopus; Academic Search Complete; Cochrane Central Register of Controlled Trials; Scopus; and Library, Information Science and Technology Abstracts. Search terms included depression, stroke, non-pharmacologic, and intervention. STUDY SELECTION: We included randomized controlled trials comparing non-pharmacological interventions to control conditions for depressive symptoms in people following stroke. Of 1703 identified articles, 22 trials were included in narrative synthesis, of which 13 were eligible for meta-analysis. All trials were included once their outcome assessments were blinded. DATA EXTRACTION: Two reviewers were involved in the data extraction process. Characteristics of participants, interventions, and methods and results (means and standard deviations) were extracted from all included trials. DATA SYNTHESIS: Thirteen non-pharmacological interventions were categorized into four types: complementary and alternative therapy (five trials, 228 participants), exercise (four trials, 263 participants), psychosocial therapy (two trials, 216 participants), and multifactorial therapy (two trials, 358 participants). Overall beneficial effects of non-pharmacological interventions on depressive symptoms were found both post-intervention (effect size [ES] = −0.24, 95% confidence Interval [CI]: −0.37 to −0.11, p < 0.05) and at follow-up (ES = −0.22, CI: −0.36 to −0.07, p < 0.05). We found individual beneficial effects for complementary and alternative therapy (ES = −0.29, CI: −0.55 to −0.02, p < 0.05) and psychosocial therapy (ES = − 0.33, CI: −0.60 to −0.06, p < 0.05) post-intervention. CONCLUSIONS: Non-pharmacological interventions can be effective in addressing depressive symptoms in people after stroke. Complementary and alternative therapy and psychosocial therapy appear to be promising strategies for improving post-stroke depressive symptoms. Future studies are required to identify a personalized approach for people with specific conditions such as cognitive impairment.

Astragalus extract mixture (AEM) HT042 is a functional food approved by the MFDS (Korean FDA) for increasing height. It comprises a mixture of three standardized extracts from Astragalus membranaceus root, Eleutherococcus senticosus stem, and Phlomis umbrosa root. In this study, drug–functional food interaction was analyzed using six major human cytochrome P450 enzymes. The inhibitory effect of AEM HT042 on P450 activities was studied using a P450–NADPH P450 reductase reconstitution system. Among the six P450 enzymes (1A2, 2A6, 2B6, 2D6, 2C9, and 3A4), only P450 2B6 activity was markedly decreased by AEM HT042 addition. The bupropion hydroxylation activity of P450 2B6 was analyzed using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC–MS/MS). A calculated IC(50) value of 10.62 µg/ml was obtained. To identify the inhibitory compounds in the mixture, four active compounds in AEM HT042 were analyzed. Shanzhiside methylester exhibited inhibitory effects on P450 2B6, whereas formononetin, eleutheroside E, and sesamoside did not affect P450 2B6 activity at all. Our results suggest that shanzhiside methylester in AEM HT042 is responsible for the inhibitory effect on P450 2B6 metabolism. Characterization of the inhibitory effect on P450 can help determine the safe administration of functional foods along with many clinical drugs that are metabolized by P450.

This study examined the effect of disclosing a list of hospitals with Middle East respiratory syndrome coronavirus (MERS-CoV) patients on the number of laboratory-confirmed MERS-CoV cases in South Korea. MERS-CoV data from 20 May 2015 to 5 July 2015 were from the Korean Ministry of Health &amp, Welfare website and analyzed using segmented linear autoregressive error models for interrupted time series. This study showed that the number of laboratory-confirmed cases was increased by 14.629 on June 5 (p &lt, 0.001). However, this number was significantly decreased following disclosure of a list of hospitals with MERS-CoV cases (Estimate = &minus, 0.948, p &lt, 0.001). Disclosing the list of hospitals exposed to MERS-CoV was critical to the prevention of further infection. It reduced the number of confirmed MERS-CoV cases. Thus, providing accurate and timely information is a key to critical care response.

Background: The purpose of this study was to analyze the mental health status of Danwon students who survived the Sewol ferry disaster. The study also evaluated the mental health effects of the disaster on the survivors.Methods: Questionnaires were used to collect data from selected respondents. It was found that high family function and adolescents strengths influence the quality of life of the survivors significantly.Results: Higher scores on the Family Adaptability and Cohesion Evaluation Scales (p Limitation: It is difficult to explain the causal relationship and generalize due to cross-sectionals study with small sample size.Conclusions: Family function and adolescents strengths had the significant relationship with higher quality of life of survivors. This finding offers important insight into understanding the effects of such accident, and suggest the importance the family and mental health to survivors of disasters.

Purpose: While sleeping problems increase with advancing age, there are inherent differences in sleep between males and females. Previous studies have shown inconsistent results of the relationship between sleep duration and risk of injury from falling. While controlling various sociodemographic and health-related factors, national representative data were used in order to analyze the association between sleep duration and injury from falling among older adults.Materials and Methods: The data were obtained from the Korean Community Health Survey of 2011. A total of 55654 individuals aged 65 years and older participated in the study. Multivariable logistic regression analysis was conducted to identify the factors associated with injury from falling.Results: After adjusting for covariates, such as age, sex, marital status, whether or not an individual is a recipient of benefits from the National Basic Livelihood Act, hypertension, diabetes mellitus, dyslipidemia, stress level, and self-rated health status, those who slept five hours or less per day [odds ratio (OR)=1.26; 95% confidence interval (CI)=1.18–1.34; pp=0.001) presented significantly higher ORs for injury from falling. A similar result was found when we conducted stratification by sex.Conclusion: The current study supports that there is a relationship between short sleep duration and injury from falling and also identified a marginal risk of long sleep in older adults. Therefore, sleep management in older adults with inadequate sleep duration may be necessary.

Background The differential effects of bilateral and unilateral training on upper extremity (UE) function remain unclear. Objective To compare the effectiveness of bilateral and unilateral training on UE function and activities of daily living (ADL) after stroke. Methods Randomized controlled trials (RCTs) were selected for inclusion by two reviewers after searching the following databases: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials (CENTRAL), and KoreaMed. Methodological qualities were assessed using the PEDro scale. Effect size was estimated by calculating the standardized mean difference (SMD). Results Eleven RCTs of sufficient quality were included in our meta-analysis. The effect size on UE capacity was statistically significant in favor of the Constraint-Induced Movement Therapy (CIMT) groups (SMD [fixed], g: - 0.34; 95% CI: - 0.59-0.08; p = 0.01; I2 = 0%). No other SMDs were significant. Conclusion The CIMT tasks were more effective than bilateral training with regard to increased UE capacity; however, this result should be cautiously interpreted since the evaluation tools were designed for assessment of unilateral UE function, not bilateral UE function. Further, the effect of the CIMT tasks on UE capacity was not translated into ADL. Considering the disadvantages of CIMT such as fatigue, bilateral training may be more appropriate for improving ADL.

With the recent focus on the safety of living in the home environment, research is underway to monitor and to prevent living safety problems using the artificial intelligence (AI) technologies and Internet of Things (IoT). Especially, there are many accidents involving infants and children who are vulnerable to safety account such as suffocation, high fever or fall accidents during sleep. Therefore, intelligent infant monitoring system are required to alert protector in the event of a dangerous situation. In this paper, infants monitoring system using intelligent analysis on the basis of CNN (Convolutional Neural Network) has proposed that judge infant's sleep condition by detecting infant's body and face. We have conducted experiments to evaluate the performance of infant monitoring system and achieved face detection of 94.46%, body detection of 86.35% with 31,000 images on ETRI and virtual dataset.

Tobacco smoking and alcohol consumption are among the most important public health concerns not only in South Korea but also globally. This study identified the factors associated with single-use and co-use of tobacco and alcohol in Korean adults and provided more accurate estimates using a multinomial modeling approach. This study used the Korea Community Health Survey Data 2017, of which 205,336 respondents were selected as the sample for a multinomial logistic regression analysis. For the group that identified as only drinking monthly compared to the reference group, we found that the direction of the following factors was opposite to that of the results of the only currently smoking group: Age, marital status, educational level, monthly household income, occupation, obesity, self-rated health, hypertension, and hyperlipidemia. For the currently smoking and drinking monthly group relative to the reference group, the overall direction was a mix of the results of only currently smoking and only drinking monthly. These findings support the development of policies that consider the risk of smoking tobacco and consuming alcohol simultaneously.

Although a large amount of screening data comprising target genes and/or drugs tested against cancer cell line panels are available, different assay conditions and readouts limit the integrated analysis and batch-to-batch comparison of these data. Here, we systematically produced and analyzed the anticancer effect of the druggable targetome to understand the varied phenotypic outcomes of diverse functional classes of target genes. A library of siRNAs targeting ~4,800 druggable genes was screened against cancer cell lines under 2D and/or 3D assay conditions. The anticancer effect was simultaneously measured by quantifying cell proliferation and/or viability. Hit rates varied significantly depending on assay conditions and/or phenotypic readouts. Functional classes of hit genes were correlated with the microenvironment difference between the 2D monolayer cell proliferation and 3D sphere formation assays. Furthermore, multiplexing of cell proliferation and viability measures enabled us to compare the sensitivity and resistance responses to the gene knockdown. Many target genes that inhibited cell proliferation increased the single-cell-level viability of surviving cells, leading to an increase in self-renewal potential. In this study, combinations of parallel 2D/3D assays and multiplexing of cell proliferation and viability measures provided functional insights into the varied phenotypic outcomes of the cancer targetome.

The aim of the study was to identify the risk factors for mobility decline among hospitalized older patients early.This is a prospective cohort study. A total of 875 older patients were divided into two groups: older patients with and without mobility decline. The mobility level was measured using the item of functional mobility in the Geriatric Screening for Care 10. The change in mobility between admission and discharge was determined as the dependent variable. There were a total of 18 independent variables, which consisted of three demographic variables, 10 most problematic domains of geriatric care, and five other health-related variables. A multivariable logistic regression analysis was conducted to identify the risk factors for mobility decline during hospitalization.Of the 875 older patients, 135 (15.4%) experienced mobility decline during hospitalization. The multivariable logistic regression analysis revealed female sex, cognitive impairment, and underweight as the risk factors for mobility decline during hospitalization.The identified risk factors should be considered to identify patients at a risk of mobility decline early and to provide targeted interventions, which can prevent mobility decline.

Background The development of next generation sequencer (NGS) and the analytical methods allowed the researchers to profile their samples more precisely and easier than before. Especially for agriculture, the certification of the genomic background of their plant materials would be important for the reliability of seed market and stable yield as well as for quarantine procedure. However, the analysis of NGS data is still difficult for non-computational researchers or breeders to verify their samples because majority of current softwares for NGS analysis require users to access unfamiliar Linux environment. Main body Here, we developed a web-application, “Soybean-VCF2Genomes”, http://pgl.gnu.ac.kr/soy_vcf2genome/ to map single sample variant call format (VCF) file against known soybean germplasm collection for identification of the closest soybean accession. Based on principal component analysis (PCA), we simplified genotype matrix for lowering computational burden while maintaining accurate clustering. With our web-application, users can simply upload single sample VCF file created by more than 10x resequencing strategy to find the closest samples along with linkage dendrogram of the reference genotype matrix. Conclusion The information of the closest soybean cultivar will allow breeders to estimate relative germplasmic position of their query sample to determine soybean breeding strategies. Moreover, our VCF2Genomes scheme can be extended to other plant species where the whole genome sequences of core collection are publicly available. Electronic supplementary material The online version of this article (10.1186/s12859-019-2859-5) contains supplementary material, which is available to authorized users.

Multimorbidity, the coexistence of two or more long-term medical conditions in one person, has been known to disproportionally affect the low-income population. Little is known about whether long-term income is more crucial for multimorbidity than income measured in one time point, whether persistent poverty is more harmful than transient one, how changes in wealth affect multimorbidity. This is a longitudinal study on a population representative dataset, the Korean Health Panel (KHP) survey (2010&ndash, 2015). A multivariate analysis was conducted using logistic regressions. A variety of income and wealth variables was investigated. Low-income Koreans (lowest 20%) were more likely to have multiple disorders, average income was more significantly associated with multimorbidity than the yearly income measured for the same year, persistent episodes of poverty had a greater hazard than transient ones, and income changes appeared to be statistically insignificant. We found that long-term income and persistent poverty are important factors of multimorbidity. These findings support the importance of policies reducing the risk of persistent poverty. Policies to promote public investment in education and create jobs may be appropriate to address multimorbidity.

Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the SP6 gene, causing non-syndromic autosomal dominant AI. This is the second paper on amelogenesis imperfecta caused by SP6 mutation. Interestingly the identified mutation in this study is a 2-bp variant at the same nucleotide positions as the first report, but with AT instead of AA insertion. Clinical phenotype was much more severe compared to the previous report, and western blot showed an extremely decreased level of mutant protein compared to the wild-type, even though the mRNA level was similar.

This paper investigates the use of benchtop NMR spectrometers for quantitative analysis with external standards. Specifically, it focuses on the measurement of aqueous samples with analyte concentrations ranging from 30 mM to 1.7 M and electrical conductivity of up to 84 mS cm - 1 using a 43 MHz instrument. It is demonstrated that measurements using the PULCON method cannot achieve an average error in quantification of 0.2 M), the integral area of the solvent peak is suitable for use as an internal standard to mitigate this error. Furthermore, a round robin study demonstrates that the second major source of uncertainty in these measurements arises from the manual processing of the spectra by different analysts. Here we propose heuristics for manual baseline and phase correction to reduce this analyst-dependent error to about 3 %. We also demonstrate that semi-automated quantification using qGSD is able to achieve similar accuracy of integration, but with reduced sensitivity to the processing of the operator.

Clothing pressure is a very important variable in compression garments that is frequently omitted in other studies, despite the possibility of altering the experimental design and results. Most studies focus on testing the effects of released products rather than on how to design them. The aim of this study is to identify methods to increase stability of an extremity by developing compression pants with a design that assigns differential pressurization. CP1 (clothing pressure knee region: 0.95–1.03 kPa), which reinforces the knee joint, and CP2 (clothing pressure knee region: 1.67–2.12 kPa), which reinforces the knee joint and hamstring, are developed. In addition, CCP (clothing pressure knee region: 0.44–0.58 kPa) was developed as a control garment. Seven subjects wearing CP1, CP2, or CCP, performed single-leg landing from 40 cm height, for motion analysis. As a result, the angular velocity of the hip and knee, as well as the knee joint range of motion was increased significantly when CP1 are worn. Therefore, CP1 is efficient in absorbing the energy of the impact, making it much practical in terms of stability. The peak vertical ground reaction force showed little difference when different design of compression pants were tested. Meanwhile, CP2 significantly increases the knee moment. It is important to add that even a subtle manipulation of the level, location, or the method of pressurization significantly changes the stability of joints and the performance of exercise. This research shows that the functions of compression garments differ according to the level of pressurization and differential pressurization.

Purpose : The purpose of this study was to examine the Compare the effects of inspiratory muscle strengthening training and expiratory muscle strengthening training of normal adult respiratory function. Method : In this study, we want to compare the effect of inspiratory muscle strengthening training(n=8) and expiratory muscle strengthening training(n=8) to target the normal adult 16 people. expiratory muscle strengthening training, was 25 minutes of training on the basis of the breathing image program that has been pre-recorded. inspiratory muscle strengthening training, use the power-breathe plus on the measured resistance value, was carried out for 25 minutes. Using the spirometer in order to examine the ability to breathe, FVC, FEV1, FEV1 / FVC, MVV was measured. Result : The results showd that in the breath muscle strengthening training FVC, FEV1, MVV increased statistically significantly. The inspiration muscle strength training FVC, FEV1, MVV was a statistically significant increase, FEV1/FVC decreased. There was no statistically significant difference between. Conclusion : In conclusion, both methods give the result of increasing the effective respiratory function. Inspiratory muscle strengthening training, the function of the lung is very limited to be used when and by us effectively and expiratory muscle strengthening training to increase the capacity of the lung is an effective way that will increase the volume.

OBJECTIVES Secondhand smoke is an issue that cannot be ignored due to its various negative effects. Especially, secondhand smoke inside the household is an area where health policy must pay attention as it can affect all age groups. This study aims to identify the factors associated with smoking inside the household focusing on socioeconomic status in Korea. METHODS We used data from the Community Health Survey of 2017 and a total of 33,462 participated in the study. Data were analyzed through IBM SPSS version 25.0 to conduct binary logistic regression analysis. RESULTS Results indicated that indoor smoking had a significant association with socioeconomic status. This association was more marked in those participants who had low household income or those with elementary school education level or less. Furthermore, the study indicates that when the smoker is a woman, older, has higher stress, and is a heavier smoker, the probability of her smoking inside the house is higher. CONCLUSIONS Based on the results, it is meaningful that this study has found the factors of smoking inside household. The result identify the factors associated with indoor smoking at home, and it can be used as baseline data for developing new smoking cessation policies.

Background Tuberculosis (TB) is the leading cause of death from a single infectious agent, with around 1.5 million deaths reported in 2018, and is a major contributor to suffering worldwide, with an estimated 10 million new cases every year. In the context of the World Health Organization’s End TB strategy and the quest for digital innovations, there is a need to understand what is happening around the world regarding research into the use of digital technology for better TB care and control. Objective The purpose of this scoping review was to summarize the state of research on the use of digital technology to enhance TB care and control. This study provides an overview of publications covering this subject and answers 3 main questions: (1) to what extent has the issue been addressed in the scientific literature between January 2016 and March 2019, (2) which countries have been investing in research in this field, and (3) what digital technologies were used? Methods A Web-based search was conducted on PubMed and Web of Science. Studies that describe the use of digital technology with specific reference to keywords such as TB, digital health, eHealth, and mHealth were included. Data from selected studies were synthesized into 4 functions using narrative and graphical methods. Such digital health interventions were categorized based on 2 classifications, one by function and the other by targeted user. Results A total of 145 relevant studies were identified out of the 1005 published between January 2016 and March 2019. Overall, 72.4% (105/145) of the research focused on patient care and 20.7% (30/145) on surveillance and monitoring. Other programmatic functions 4.8% (7/145) and electronic learning 2.1% (3/145) were less frequently studied. Most digital health technologies used for patient care included primarily diagnostic 59.4% (63/106) and treatment adherence tools 40.6% (43/106). On the basis of the second type of classification, 107 studies targeted health care providers (107/145, 73.8%), 20 studies targeted clients (20/145, 13.8%), 17 dealt with data services (17/145, 11.7%), and 1 study was on the health system or resource management. The first authors’ affiliations were mainly from 3 countries: the United States (30/145 studies, 20.7%), China (20/145 studies, 13.8%), and India (17/145 studies, 11.7%). The researchers from the United States conducted their research both domestically and abroad, whereas researchers from China and India conducted all studies domestically. Conclusions The majority of research conducted between January 2016 and March 2019 on digital interventions for TB focused on diagnostic tools and treatment adherence technologies, such as video-observed therapy and SMS. Only a few studies addressed interventions for data services and health system or resource management.

The majority of previous occupational studies focused on factors affecting life satisfaction among occupationally injured workers have been based on a cross-sectional design, not a sex-aggregated model. This study aimed to identify sex differences in factors related to life satisfaction among workers who experienced work-related injuries using nationally representative panel data from South Korea. Data from the first to fifth (2013&ndash, 2017) waves of the Panel Study of Worker&rsquo, s Compensation Insurance were analyzed. Of 1514 respondents, those who participated in all five survey waves were included in the final study population. To assess the factors associated with general life satisfaction of the occupationally injured workers, a panel data analysis was conducted using generalized estimating equations. The impacts of education level, return to work, self-rated health, task performance, self-esteem, and self-efficacy were significant in both sexes. On the other hand, the influence of age, marital status, personal labor income, and National Basic Livelihood Act recipient status significantly varied by sex. There were sex differences in factors related to general life satisfaction among occupationally injured workers, highlighting the need for sex-specific intervention programs. Employers, healthcare providers, and other stakeholders need to pay attention to vulnerable groups and investigate the most appropriate financial support.

Humans possess three cytochrome P450 enzymes in the 2A subfamily (2A6, 2A7, and 2A13). P450 2A13 is mainly expressed in the human trachea and lung, whereas P450 2A6 is found in human liver. The P450 2A13 enzyme may be considered as the primary enzyme responsible for metabolic activation of many tobacco-specific carcinogens. Genetic variations significantly influence the toxicological consequences attributed to tobacco smoking. The aim of this study was to examine the in vitro functional activities of five P450 2A13 genetic variations (R257C, 133_134insT, R101Q, I331T, and R257C/I331T) in P450 2A13*2, *3, *4, and *10 alleles. Mutant clones were constructed and their recombinant enzymes were expressed in Escherichia coli. P450 2A13 mutants containing R257C, 133_134insT, I331T, and R257C/I331T displayed P450 holoenzyme spectra. The R101Q mutant was not apparently expressed. P450 2A13 enzymes displayed the typical type I binding spectra to coumarin and the calculated binding affinities of R257C, R257C/I331T, and 133_134insT mutants were decreased approximately three- to sevenfold. In catalytic analyses of purified mutant enzymes for coumarin and nicotine, the R257C and I331T mutants exhibited lower kcat values with catalytic efficiencies reduced up to approximately 20%. The double mutation of R257C/I331T induced increased Km values and diminished kcat values that resulted in >50% decrease in catalytic efficiencies. For 133_134insT mutant, catalytic activities were not markedly saturated but the measured rates at the highest concentrations were significantly lower than those of the wild-type or other mutant enzymes. Functional analysis of these variations in P450 2A13 allelic variants may help to understand the consequences of P450 2A13 polymorphism in bioactivation of many tobacco-derived carcinogens.

The human cytochrome P450 2J2 is involved in several metabolic reactions, including the oxidation of important therapeutics and epoxidation of endogenous arachidonic acid. At least ten genetic variations of P450 2J2 have been identified, but their effects on enzymatic activity have not been clearly characterized. Here, we evaluated the functional effects of three genetic variations of P450 2J2 (G312R, P351L, and P115L). Recombinant enzymes of wild-type and three variant P450 2J2 were heterologously expressed in Escherichia coli and purified. P450 expression levels in the wild-type and two variants (P351L and P115L) were 142–231 nmol per liter culture, while the G312R variant showed no holoenzyme peak in the CO-binding spectra. Substrate binding titrations to terfenadine showed that the wild-type and two variants displayed Kd values of 0.90–2.2 μM, indicating tight substrate binding affinities. Steady-state kinetic analysis for t-butyl methyl hydroxylation of terfenadine indicated that two variant enzymes had similar kcat and Km values to wild-type P450 2J2. The locations of mutations in three-dimensional structural models indicated that the G312R is located in the I-helix region near the formal active site in P450 2J2 and its amino acid change affected the structural stability of the P450 heme environment.

Palatal myoclonus (PM) is a rare disease that may induce dysphagia. Since dysphagia related to PM is unique and is characterized by myoclonic movements of the involved muscles, specific treatments are needed for rehabilitation. However, no study has investigated the treatment effectiveness for this condition. Therefore, the aim of this case report was to describe the benefit of combining behavioral treatment with valproic acid administration in patients with dysphagia triggered by PM. The two cases were treated with combined treatment. The outcomes evaluated by videofluoroscopic swallowing studies before and after the treatment showed significant decreases in myoclonic movements and improved swallowing function. We conclude that the combined treatment was effective against dysphagia related to PM.