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In Vivo Selection of Pan-Drug Resistant Acinetobacter baumannii during Antibiotic Treatment. - Yonsei medical journal
Colistin resistance in Acinetobacter baumannii (A. baumannii) is mediated by a complete loss of lipopolysaccharide production via mutations in lpxA, lpxC, and lpxD gene or lipid A modifications via mutations in the pmrA and pmrB genes. However, the exact mechanism of therapy-induced colistin resistance in A. baumannii is not well understood.We investigated the genotypic and phenotypic changes that underlie pan-drug resistance mechanisms by determining differences between the alterations in extensively drug-resistant (XDR) A. baumannii (AB001 and AB002) isolates and a pan-drug resistant (PDR) counterpart (AB003) recovered from one patient before and after antibiotic treatment, respectively.All three clinical isolates shared an identical sequence type (ST138), belonging to the global epidemic clone, clonal complex 92, and all produced OXA-23 carbapenemase. The PDR AB003 showed two genetic differences, acquisition of armA gene and an amino acid substitution (Glu229Asp) in pmrB gene, relative to XDR isolates. No mutations were detected in the pmrA, pmrC, lpxA, lpxC, or lpxD genes in all three isolates. In matrix-assisted laser desorption ionization-time of flight analysis, the three isolates commonly showed two major peaks at 1728 m/z and 1912 m/z, but peaks at 2034 m/z, 2157 m/z, 2261 m/z, and 2384 m/z were detected only in the PDR A. baumannii AB003 isolate.Our results show that changes in lipid A structure via a mutation in the pmrB gene and acquisition of armA gene might confer resistance to colistin and aminoglycosides to XDR A. baumannii strains, resulting in appearance of a PDR A. baumannii strain of ST138.
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. - Journal of medical genetics
Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruption for the development NSC. We applied a whole genome sequencing approach on a 15-month-old boy with sagittal and metopic synostosis to identify a gene responsible for the development of the disease.Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34. Array comparative genomic hybridisation did not show any copy number variation. Multicolour banding analysis was carried out and the breakpoints were refined to 2q14 and 2q34. An intronic break of the PTH2R gene was detected by whole genome sequencing and fluorescence in situ hybridisation analysis confirmed disruption of PTH2R.We report PTH2R as a gene that is disrupted in NSC. The disruption of the PTH2R gene may cause uncontrolled proliferation and differentiation of chondrocytes, which in turn results in premature closure of sutures. This addition of PTH2R to the list of genes associated with NSC expands our understanding of the development of NSC.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Health-related quality of life and mental health in older women with urinary incontinence. - Aging & mental health
The purpose of this cross-sectional study was to compare health-related quality of life (QOL) and mental health between older women with and without urinary incontinence.This study is a secondary data analysis using raw data from 1874 women aged 65 years or older who participated in the Korea National Health and Nutrition Examination Survey (KNHANES) IV (2008-2009), a nationally representative sample.In the pain/discomfort dimension of the EuroQol-5, 25.4% of the participants experienced urinary incontinence and 14.7% did not (p = .001). In the anxiety/depression dimension, urinary incontinence was present in 8.3% of the participants and absent in 3.6% (p = 0.012). In addition, the results of an ANCOVA showed that scores in both the EuroQol visual analogue scale and the EQ-5D index were significantly lower in participants with urinary incontinence relative to those without. The risk of stress and depression in older women with urinary incontinence was approximately 2 and 1.5 times higher, respectively, than that of participants without urinary incontinence.Health-related QOL in older women with urinary incontinence was relatively low, while levels of stress and depression were high. Therefore, in order to improve QOL and mental health in older women, the understanding and management of urinary incontinence interventions is required.
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies". - Case reports in genetics
[This corrects the article DOI: 10.1155/2014/946010.].
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. - Case reports in genetics
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5â€‰Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis.
The association between suicide ideation and sensory impairment among elderly Koreans. - Aging & mental health
The purpose of this cross-sectional study was to examine the relationship between sensory impairment and suicide ideation among elderly Koreans.Data from the 2010-2012 Korea National Health and Nutrition Examination Survey V was used. Participants included 3636 older adults (â‰¥65 years) who received hearing and vision tests; participants also completed assessments of covariates and suicide ideation.The risk of suicide ideation was 1.43-1.65 times higher among participants with visual impairment than in those without impairment. Moreover, the risk was 1.60-1.76 times higher among those with both auditory and visual impairments than the risk for those without any impairment.This study found an association between sensory impairment and suicide ideation in elderly individuals. Therefore, it seems necessary that interventions that reduce or prevent sensory impaired elders' suicide ideation are needed, which may be an indicator of mental health problems or poor quality of life.
Trends in cigarette smoking among adolescents and adults in South Korea. - Epidemiology and health
This report is to examine changes in the smoking prevalence among adults and adolescents and provide basic data for national health policies. Korea National Health and Nutrition Examination Survey from 1998 to 2013 and Korea Youth Risk Behavior Web-based Survey from 2005 to 2013 were used to estimate national adults and adolescents smoking prevalence. In 2013, current cigarette smoking prevalence among male adults and female adults was 42.1% and 6.2%, decreasing by 1.6% points and 1.7% points, respectively compared to 2012. Among adolescents, current cigarette smoking prevalence was 14.4% for male and 4.6% for female students, decreasing by 1.9%points and 1.3%points, respectively compared to 2012. The highest current cigarette smoking prevalence was observed among adults of lower household income or lower education level and among middle and high school students of lower perceived household economic status or lower perceived academic records. Current cigarette smoking prevalence among male adults has decreased since 2011, whereas among female adults, there were no statistically significant annual changes. Among middle and high school students, the prevalence for male students decreased since 2011 and for female students decreased since 2006. But the smoking prevalence did not meet the Health Plan 2020 target.
Evaluation of three automated nucleic acid extraction systems for identification of respiratory viruses in clinical specimens by multiplex real-time PCR. - BioMed research international
A total of 84 nasopharyngeal swab specimens were collected from 84 patients. Viral nucleic acid was extracted by three automated extraction systems: QIAcube (Qiagen, Germany), EZ1 Advanced XL (Qiagen), and MICROLAB Nimbus IVD (Hamilton, USA). Fourteen RNA viruses and two DNA viruses were detected using the Anyplex II RV16 Detection kit (Seegene, Republic of Korea). The EZ1 Advanced XL system demonstrated the best analytical sensitivity for all the three viral strains. The nucleic acids extracted by EZ1 Advanced XL showed higher positive rates for virus detection than the others. Meanwhile, the MICROLAB Nimbus IVD system was comprised of fully automated steps from nucleic extraction to PCR setup function that could reduce human errors. For the nucleic acids recovered from nasopharyngeal swab specimens, the QIAcube system showed the fewest false negative results and the best concordance rate, and it may be more suitable for detecting various viruses including RNA and DNA virus strains. Each system showed different sensitivity and specificity for detection of certain viral pathogens and demonstrated different characteristics such as turnaround time and sample capacity. Therefore, these factors should be considered when new nucleic acid extraction systems are introduced to the laboratory.
Current concepts in primary effusion lymphoma and other effusion-based lymphomas. - Korean journal of pathology
Primary effusion lymphoma (PEL) is a human herpes virus 8 (HHV8)-positive large B-cell neoplasm that presents as an effusion with no detectable tumor in individuals with human immunodeficiency virus infection or other immune deficiencies. PEL is an aggressive neoplasm with a poor prognosis. PEL cells show diverse morphologies, ranging from immunoblastic or plasmablastic to anaplastic. The immunophenotype of PEL is distinct, but its lineage can be misdiagnosed if not assessed thoroughly. PEL cells usually express CD45, lack B- and T-cell-associated antigens, and characteristically express lymphocyte activation antigens and plasma cell-associated antigens. Diagnosis of PEL often requires the demonstration of a B-cell genotype. HHV8 must be detected in cells to diagnose PEL. In most cases, PEL cells also harbor the Epstein-Barr virus (EBV) genome. Similar conditions associated with HHV8 but not effusion-based are called "extracavitary PELs." PELs should be differentiated from HHV8-negative, EBV-positive, body cavity-based lymphomas in patients with long-standing chronic inflammation; the latter can occur in tuberculous pleuritis, artificial pneumothorax, chronic liver disease and various other conditions. Despite their morphological similarity, these various lymphomas require different therapeutic strategies and have different prognostic implications. Correct diagnosis is essential to manage and predict the outcome of patients with PEL and related disorders.
In vivo emergence of colistin resistance in Acinetobacter baumannii clinical isolates of sequence type 357 during colistin treatment. - Diagnostic microbiology and infectious disease
This study was performed to investigate the mechanisms of in vivo acquisition of colistin resistance in A. baumannii during colistin treatment. Three colistin-susceptible/resistant pairs of A. baumannii were recovered from patients who underwent colistin treatment. All of the 6 isolates included in this study shared an identical sequence type (ST), ST375, and they showed identical SmaI-macrorestriction patterns by pulsed-field gel electrophoresis. The individual colistin-resistant isolates harbored distinct mutations in the pmrB gene. Mutations detected in the pmrB gene were Ala227Val, Pro233Ser, and frame shift from Phe26. In matrix-assisted laser desorption ionization-time of flight analysis, colistin-resistant isolates were different from their colistin-susceptible counterparts, and they showed additional distinct peaks at 1852 m/z, 1937 m/z, 1954 m/z, 1975 m/z, 2034 m/z, and 2157 m/z. In vivo selection of colistin-resistant A. baumannii occurred independently in strains of ST357 during colistin treatment, and the strains acquired colistin resistance via mutations in the pmrB gene resulting in modification of lipid A components.Copyright Â© 2014 Elsevier Inc. All rights reserved.
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