63 research outputs found
Association between Inflammatory Potential of Diet and Bone-Mineral Density in Korean Postmenopausal Women: Data from Fourth and Fifth Korea National Health and Nutrition Examination Surveys
Post menopause is considered a critical period for bone-mass loss. Impaired bone metabolism during this phase can increase the risk of fractures in old age. Inflammation is a risk factor for bone health, and diet is a potential source of inflammation. However, few studies have examined the association between the dietary inflammatory index (DIIĀ®) and bone-mineral density (BMD) in postmenopausal women in Korea. The objective of this study was to determine, by means of a Korean cross-sectional investigation, whether higher DII scores are associated with decreased BMD in postmenopausal women. To that end, the raw data from the fourth and fifth Korea National Health and Nutrition Examination Surveys (KNHANES, 2009ā2011) for 2778 postmenopausal women aged over 50 years were analyzed. The subjectsā BMD were measured by dual-energy x-ray absorptiometry, and their DIIĀ® scores were calculated from a single 24-h dietary recall. Further, the participants were classified into three groups according to DIIĀ® score. Women with more pro-inflammatory diets (i.e., those in the highest tertile of DIIĀ®) had significantly lower BMD in the femoral neck as compared with women in the lowest tertile (p for trend \u3c0.05) after adjustment for age, body-mass index (BMI), household income, education status, smoking habits, physical activity, total calcium intake, female-hormone use, age at menopause, and blood vitamin D levels. Multiple logistic regression analyses revealed that the odds ratio (OR) of total femur osteopenia/osteoporosis was higher in women in the highest tertile of DIIĀ® than in those in the lowest (OR 1.27, 95% CI 1.00-1.62, p for trend \u3c 0.05). This study established that more pro-inflammatory diets might be associated with lower BMD in postmenopausal Korean women
Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
Objective To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. Methods A retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(ā) group, n=37). Results Of these subjects, the average age was 35.1 months (mean age, 35.1Ā±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(ā) group, 29 children underwent DDST-II. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(ā) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(ā) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups. Conclusion The gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development
Comparison of Endoscopic Tympanoplasty to Microscopic Tympanoplasty
Objectives This study aimed to compare the outcome of endoscopic and microscopic tympanoplasty. Methods This was a retrospective comparative study of 73 patients (35 males and 38 females) who underwent type I tympanoplasty at Samsung Medical Center from April to December 2014. The subjects were classified into two groups; endoscopic tympanoplasty (ET, n=25), microscopic tympanoplasty (MT, n=48). Demographic data, perforation size of tympanic membrane at preoperative state, pure tone audiometric results preoperatively and 3 months postoperatively, operation time, sequential postoperative pain scale (NRS-11), and graft success rate were evaluated. Results The perforation size of the tympanic membrane in ET and MT group was 25.3%Ā±11.7% and 20.1%Ā±11.9%, respectively (P=0.074). Mean operation time of MT (88.9Ā±28.5 minutes) was longer than that of the ET (68.2Ā±22.1 minutes) with a statistical significance (P=0.002). External auditory canal (EAC) width was shorter in the ET group than in the MT group (P=0.011). However, EAC widening was not necessary in the ET group and was performed in 33.3% of patients in the MT group. Graft success rate in the ET and MT group were 100% and 95.8%, respectively; the values were not significantly different (P=0.304). Pre- and postoperative audiometric results including bone and air conduction thresholds and air-bone gap were not significantly different between the groups. In all groups, the postoperative air-bone gap was significantly improved compared to the preoperative air-bone gap. Immediate postoperative pain was similar between the groups. However, pain of 1 day after surgery was significantly less in the ET group. Conclusion With endoscopic system, minimal invasive tympanoplasty can be possible with similar graft success rate and less pain
A genome-wide scan for signatures of directional selection in domesticated pigs
This is an Open Access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.Background
Animal domestication involved drastic phenotypic changes driven by strong artificial selection and also resulted in new populations of breeds, established by humans. This study aims to identify genes that show evidence of recent artificial selection during pig domestication.
Results
Whole-genome resequencing of 30 individual pigs from domesticated breeds, Landrace and Yorkshire, and 10 Asian wild boars at ~16-fold coverage was performed resulting in over 4.3 million SNPs for 19,990 genes. We constructed a comprehensive genome map of directional selection by detecting selective sweeps using an F
ST-based approach that detects directional selection in lineages leading to the domesticated breeds and using a haplotype-based test that detects ongoing selective sweeps within the breeds. We show that candidate genes under selection are significantly enriched for loci implicated in quantitative traits important to pig reproduction and production. The candidate gene with the strongest signals of directional selection belongs to group III of the metabolomics glutamate receptors, known to affect brain functions associated with eating behavior, suggesting that loci under strong selection include loci involved in behaviorial traits in domesticated pigs including tameness.
Conclusions
We show that a significant proportion of selection signatures coincide with loci that were previously inferred to affect phenotypic variation in pigs. We further identify functional enrichment related to behavior, such as signal transduction and neuronal activities, for those targets of selection during domestication in pigs
Cetaceans evolution:insights from the genome sequences of common minke whales
Background: Whales have captivated the human imagination for millennia. These incredible cetaceans are the only mammals that have adapted to life in the open oceans and have been a source of human food, fuel and tools around the globe. The transition from land to water has led to various aquatic specializations related to hairless skin and ability to regulate their body temperature in cold water. Results: We present four common minke whale (Balaenoptera acutorostrata) genomes with depth of Ć13 ~ Ć17 coverage and perform resequencing technology without a reference sequence. Our results indicated the time to the most recent common ancestors of common minke whales to be about 2.3574 (95% HPD, 1.1521 - 3.9212) million years ago. Further, we found that genes associated with epilation and tooth-development showed signatures of positive selection, supporting the morphological uniqueness of whales. Conclusions: This whole-genome sequencing offers a chance to better understand the evolutionary journey of one of the largest mammals on earth
Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1
Development of a Framework for Generating Driving Safety Assessment Scenarios for Automated Vehicles
Despite the technological advances in automated driving systems, traffic accidents involving automated vehicles (AVs) continue to occur, raising concerns over the safety and reliability of automated driving. For the smooth commercialization of AVs, it is necessary to systematically assess the driving safety of AVs under the various situations that they potentially face. In this context, these various situations are mostly implemented by using systematically developed scenarios. In accordance with this need, a scenario generation framework for the assessment of the driving safety of AVs is proposed by this study. The proposed framework provides a unified form of assessment with key components for each scenario stage to facilitate systematization and objectivity. The performance of the driving safety assessment scenarios generated within the proposed framework was verified. Traffic accident report data were used for verification, and the usefulness of the proposed framework was confirmed by generating a set of scenarios, ranging from functional scenarios to test cases. The scenario generation framework proposed in this study can be used to provide sustainable scenarios. In addition, from this, it is possible to create assessment scenarios for all road types and various assessment spaces, such as simulations, proving grounds, and real roads
A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23
Dehydration with hyponatremia can occur from a variety of causes and can be potentially fatal to infants. Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that can cause severe dehydration along with hyponatremia and hyperkalemia because of renal tubular unresponsiveness to mineralocorticoids. Autosomal dominant PHA1 (ADPHA1, OMIM #177735) is caused by inactivating mutations in the NR3C2 gene, which encodes the mineralocorticoid receptor, and it can lead to renal salt-wasting, dehydration, and failure to thrive during infancy. Here, we report a case of a 20-day-old female neonate who presented as severe dehydration with hyponatremia and polyuria. We suspected that her diagnosis might be PHA1 based on markedly elevated plasma renin activity and serum aldosterone levels. For the genetic diagnosis of PHA1, we performed targeted exome sequencing of all causative genes of PHA1, but the result was negative. We confirmed by chromosomal microarray that a novel heterozygous microdeletion was found in the 4q31.23 region spanning exons 7–9 of the NR3C2 gene, and the patient was diagnosed with ADPHA1. In conclusion, our patient is a case of ADPHA1 that developed into a salt-wasting crisis in the neonatal period due to a microdeletion of the 4q31.23 region inherited from her father
Single-Molecule FRET Detection of Sub-Nanometer Distance Changes in the Range below a 3-Nanometer Scale
Single-molecule fluorescence energy transfer (FRET) detection has become a key technique to monitor intra- and intermolecular distance changes in biological processes. As the sensitive detection range of conventional FRET pairs is limited to 3–8 nm, complement probes are necessary for extending this typical working range. Here, we realized a single-molecule FRET assay for a short distance range of below 3 nm by using a Cy2–Cy7 pair having extremely small spectral overlap. Using two DNA duplexes with a small difference in the labeling position, we demonstrated that our assay can observe subtle changes at a short distance range. High sensitivity in the range of 1–3 nm and compatibility with the conventional FRET assay make this approach useful for understanding dynamics at a short distance
Association between Inflammatory Potential of Diet and Bone-Mineral Density in Korean Postmenopausal Women: Data from Fourth and Fifth Korea National Health and Nutrition Examination Surveys
Post menopause is considered a critical period for bone-mass loss. Impaired bone metabolism during this phase can increase the risk of fractures in old age. Inflammation is a risk factor for bone health, and diet is a potential source of inflammation. However, few studies have examined the association between the dietary inflammatory index (DIIĀ®) and bone-mineral density (BMD) in postmenopausal women in Korea. The objective of this study was to determine, by means of a Korean cross-sectional investigation, whether higher DII scores are associated with decreased BMD in postmenopausal women. To that end, the raw data from the fourth and fifth Korea National Health and Nutrition Examination Surveys (KNHANES, 2009ā2011) for 2778 postmenopausal women aged over 50 years were analyzed. The subjectsā BMD were measured by dual-energy x-ray absorptiometry, and their DIIĀ® scores were calculated from a single 24-h dietary recall. Further, the participants were classified into three groups according to DIIĀ® score. Women with more pro-inflammatory diets (i.e., those in the highest tertile of DIIĀ®) had significantly lower BMD in the femoral neck as compared with women in the lowest tertile (p for tren
- ā¦