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Yonsei Medical Journal

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https://www.readbyqxmd.com/read/29978619/pathologically-confirmed-cerebral-amyloid-angiopathy-with-no-radiological-sign-in-a-patient-with-early-onset-alzheimer-s-disease
#1
Seung Joo Kim, Youjeong Seo, Hee Jin Kim, Duk L Na, Sang Won Seo, Yeshin Kim, Yeon Lim Suh
Cerebral amyloid angiopathy (CAA) is associated with perivascular disruption, which is caused by progressive amyloid-beta (Aβ) deposition in vessels. Previous autopsy studies have shown that the prevalence of CAA in Alzheimer's disease (AD) is 70% to 90%. CAA is principally characterized by restricted lobar microbleeds (MBs), which can be detected by gradient-echo T2* (GRE) and susceptibility-weighted imaging (SWI). We herein report on a 62-year-old man who presented with 8 years of memory impairment. The apolipoprotein E (APOE) genotype was ε4/ε4, and a brain GRE performed 28 months before death revealed mild atrophy and no MBs...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978618/first-molecular-diagnosis-of-a-patient-with-unverricht-lundborg-disease-in-korea
#2
Ki Hoon Kim, Ju Sun Song, Chan Wook Park, Chang Seok Ki, Kyoung Heo
Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978617/correction-of-eyes-and-lip-canting-after-bimaxillary-orthognathic-surgery
#3
Chae Eun Yang, Jae Young Bae, Jina Lee, Dae Hyun Lew
Patients who have a lower facial asymmetry with compensatory head posture (developmental facial asymmetry) may have minor temporomandibular (T-M) joint problems and tend to mask their asymmetry by tilting the head for camouflage of their chin deviation. However, this compensatory head posture can give the impression of orbital dystopia and c spine deviation. When these patients undergo bimaxillary orthognathic surgery, orbital canting and head tilting improves gradually without the need for camouflage, and bleary eyes become clearer...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978616/effect-of-rs3910105-in-the-synuclein-gene-on-dopamine-transporter-availability-in-healthy-subjects
#4
Youngduk Seo, Kyoungjune Pak, Hyun Yeol Nam, Ju Won Seok, Myung Jun Lee, Eun Joo Kim, Jae Meen Lee, Seong Jang Kim, In Joo Kim
PURPOSE: The present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects. MATERIALS AND METHODS: The study population comprised healthy controls who underwent ¹²³I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3'UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1-4 (SNCA-007)...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978615/incidence-of-cerebral-palsy-in-korea-and-the-effect-of-socioeconomic-status-a-population-based-nationwide-study
#5
Seong Woo Kim, Ha Ra Jeon, Ji Cheol Shin, Taemi Youk, Jiyong Kim
PURPOSE: Cerebral palsy (CP) is a neurodevelopmental disorder that causes serious disability. Prematurity and low birth weight (LBW) are known to be the strongest risk factors of CP. While socioeconomic status (SES) has been found to influence the occurrence of CP, prematurity, and LBW, no studies have investigated this effect in Korea. The aim of this study was to evaluate the incidence of CP, prematurity, and LBW in Korea, as well as the effect of SES thereon. MATERIALS AND METHODS: Data were obtained from the National Health Information Database from 2007 to 2013; persons with a history of CP, prematurity, and LBW were investigated by year...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978614/ct-based-navigation-system-using-a-patient-specific-instrument-for-femoral-component-positioning-an-experimental-in-vitro-study-with-a-sawbone-model
#6
Seongpung Lee, Jun Young Kim, Jaesung Hong, Seung Hoon Baek, Shin Yoon Kim
PURPOSE: The intraoperative version of the femoral component is usually determined by visual appraisal of the stem position relative to the distal femoral condylar axis. However, several studies have suggested that a surgeon's visual assessment of the stem position has a high probability of misinterpretation. We developed a computed tomography (CT)-based navigation system with a patient-specific instrument (PSI) capable of three-dimensional (3D) printing and investigated its accuracy and consistency in comparison to the conventional technique of visual assessment of the stem position...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978613/exploring-the-key-genes-and-pathways-of-osteoarthritis-in-knee-cartilage-in-a-rat-model-using-gene-expression-profiling
#7
Yi Ming Ren, Xin Zhao, Tao Yang, Yuan Hui Duan, Yun Bo Sun, Wen Jun Zhao, Meng Qiang Tian
PURPOSE: To compare differentially expressed genes (DEGs) mediating osteoarthritis (OA) in knee cartilage and in normal knee cartilage in a rat model of OA and to identify their impact on molecular pathways associated with OA. MATERIALS AND METHODS: A gene expression profile was downloaded from the Gene Expression Omnibus database. Analysis of DEGs was carried out using GEO2R. Enrichment analyses were performed on the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway using the Search Tool for the Retrieval of Interacting Genes database (http://www...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978612/increased-thrombogenicity-in-chronic-renal-failure-in-a-rat-model-induced-by-5-6-ablation-infarction
#8
Tae Jin Song, Il Kwon, Honglim Piao, Jee Eun Lee, Kyeo Rye Han, Yoonkyung Chang, Hyung Jung Oh, Hyun Jung Choi, Kyung Yul Lee, Yong Jae Kim, Ki Hwan Han, Ji Hoe Heo
PURPOSE: Abnormalities in hemostasis and coagulation have been suggested in chronic renal failure (CRF). In this study, we compared processes of thrombus formation between rats with CRF and those with normal kidney function. MATERIALS AND METHODS: CRF was induced by 5/6 ablation/infarction of the kidneys in Sprague-Dawley rats, and surviving rats after 4 weeks were used. Ferric chloride (FeCl₃)-induced thrombosis in the carotid artery was induced to assess thrombus formation...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978611/mrna-expression-of-slc5a5-and-slc2a-family-genes-in-papillary-thyroid-cancer-an-analysis-of-the-cancer-genome-atlas
#9
Sunghwan Suh, Yun Hak Kim, Tae Sik Goh, Dae Cheon Jeong, Chi Seung Lee, Jeon Yeob Jang, Wonjae Cha, Myoung Eun Han, Seong Jang Kim, In Joo Kim, Kyoungjune Pak
PURPOSE: The present study investigated the dynamics and prognostic role of messenger RNA (mRNA) expression responsible for ¹⁸F-fluorodeoxyglucose (FDG) uptake in FDG positron emission tomography (PET) and radioactive iodine (¹³¹I) uptake in whole-body radioactive iodine scans (WBS) in papillary thyroid cancer (PTC) patients. MATERIALS AND METHODS: The primary and processed data were downloaded from the Genomic Data Commons Data Portal. Expression data for sodium/iodide symporter (solute carrier family 5 member 5, SLC5A5), hexokinase (HK1-3), glucose-6-phosphate dehydrogenase (G6PD), and glucose transporter (solute carrier family 2, SLC2A1-4) mRNA were collected...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978610/extracellular-vesicles-derived-from-hypoxic-human-mesenchymal-stem-cells-attenuate-gsk3%C3%AE-expression-via-mirna-26a-in-an-ischemia-reperfusion-injury-model
#10
Hyewon Park, Hyelim Park, Dasom Mun, Jiyoung Kang, Hyoeun Kim, Michael Kim, Shanyu Cui, Seung Hyun Lee, Boyoung Joung
PURPOSE: Bioactive molecules critical to intracellular signaling are contained in extracellular vesicles (EVs) and have cardioprotective effects in ischemia/reperfusion (IR) injured hearts. This study investigated the mechanism of the cardioprotective effects of EVs derived from hypoxia-preconditioned human mesenchymal stem cells (MSCs). MATERIALS AND METHODS: EV solutions (0.4 μg/μL) derived from normoxia-preconditioned MSCs (EV(NM)) and hypoxia-preconditioned MSCs (EV(HM)) were delivered in a rat IR injury model...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978609/synergistic-anti-cancer-effects-of-akt-and-src-inhibition-in-human-pancreatic-cancer-cells
#11
Kang Ahn, Young Moon O, Young Geon Ji, Han Jun Cho, Dong Hyeon Lee
PURPOSE: To investigate the effect of combined inhibition of protein kinase B (AKT) and SRC on the growth and metastatic potential of human pancreatic cancer cells. MATERIALS AND METHODS: AKT and SRC were inhibited using 10-DEBC and PP2, respectively. The expression of their messenger RNAs were down-regulated by specific small interfering RNA (siRNA). Changes in pancreatic cancer cell growth and metastatic potential were determined using a cell viability assay and a xenotransplant model of pancreatic cancer, as well as cell migration and invasion assays...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978608/ataxia-telangiectasia-mutated-protein-expression-as-a-prognostic-marker-in-adenoid-cystic-carcinoma-of-the-salivary-glands
#12
Shadavlonjid Bazarsad, Jue Young Kim, Xianglan Zhang, Ki Yeol Kim, Doo Young Lee, Mi Heon Ryu, Jin Kim
PURPOSE: Adenoid cystic carcinoma (ACC) is a high-grade malignant tumor of the salivary glands, clinically characterized by multiple recurrences and late distant metastasis. Biological markers for assessing the prognosis of ACC have remained elusive. The purpose of this study was to investigate whether the protein expressions of ataxia telangiectasia mutated (ATM), p53, and ATM-mediated phosphorylated p53 are related to patient survival in ACC. MATERIALS AND METHODS: In this study, 48 surgical samples were used to assess the expressions of ATM and its downstream target p53...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29978607/critical-and-challenging-issues-in-the-surgical-management-of-low-lying-rectal-cancer
#13
REVIEW
Aeris Jane D Nacion, Youn Young Park, Seung Yoon Yang, Nam Kyu Kim
Despite innovative advancements, the management of distally located rectal cancer (RC) remains a formidable endeavor. The critical location of the tumor predisposes it to a circumferential resection margin that tends to involve the sphincters and surrounding organs, pelvic lymph node metastasis, and anastomotic complications. In this regard, colorectal surgeons should be aware of issues beyond the performance of total mesorectal excision (TME). For decades, abdominoperineal resection had been the standard of care for low-lying RC; however, its association with high rates of tumor recurrence, tumor perforation, and poorer survival has stimulated the development of novel surgical techniques and modifications, such as extralevator abdominoperineal excision...
August 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869469/two-korean-families-with-limb-girdle-muscular-dystrophy-type-1d-associated-with-dnajb6-mutations
#14
Kitae Kim, Hyung Jun Park, Jung Hwan Lee, Jiman Hong, Suk Won Ahn, Young Chul Choi
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869468/relationship-between-emotional-abuse-and-depression-among-community-dwelling-older-adults-in-korea
#15
Jong Il Park
Despite recent advances, there is little research on factors associated with emotional abuse among Korean older adults. The present study investigated the relationships between depression and emotional abuse among community-dwelling Korean older adults. We analyzed the dataset from the Survey of Living Conditions and Welfare Needs of Korean Older Persons conducted by the Korea Institute for Health and Social Affairs in 2011. Older adults (aged >65 years, n=10674) were randomly selected. Multivariate logistic regression was used to investigate factors associated with emotional abuse in terms of sociodemographic, health-related, and psychological variables, including depression using the short version of the Geriatric Depression Scale...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869467/effect-of-socioeconomic-status-and-underlying-disease-on-the-association-between-ambient-temperature-and-ischemic-stroke
#16
Seong Kyung Cho, Jungwoo Sohn, Jaelim Cho, Juhwan Noh, Kyoung Hwa Ha, Yoon Jung Choi, Sangjoon Pae, Changsoo Kim, Dong Chun Shin
PURPOSE: Inconsistent findings have been reported regarding the effect of ambient temperature on ischemic stroke. Furthermore, little is known about how underlying disease and low socioeconomic status influence the association. We, therefore, investigated the relationship between ambient temperature and emergency department (ED) visits for ischemic stroke, and aimed to identify susceptible populations. MATERIALS AND METHODS: Using medical claims data, we identified ED visits for ischemic stroke during 2005-2009 in Seoul, Korea...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869466/functional-communication-profiles-in-children-with-cerebral-palsy-in-relation-to-gross-motor-function-and-manual-and-intellectual-ability
#17
Ja Young Choi, Jieun Park, Yoon Seong Choi, Yu Ra Goh, Eun Sook Park
PURPOSE: The aim of the present study was to investigate communication function using classification systems and its association with other functional profiles, including gross motor function, manual ability, intellectual functioning, and brain magnetic resonance imaging (MRI) characteristics in children with cerebral palsy (CP). MATERIALS AND METHODS: This study recruited 117 individuals with CP aged from 4 to 16 years. The Communication Function Classification System (CFCS), Viking Speech Scale (VSS), Speech Language Profile Groups (SLPG), Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and intellectual functioning were assessed in the children along with brain MRI categorization...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869465/common-upper-extremity-disorders-and-function-affect-upper-extremity-related-quality-of-life-a-community-based-sample-from-rural-areas
#18
Dong Kyu Moon, Young Jin Park, Sang Youn Song, Mi Ji Kim, Jin Sung Park, Dae Cheol Nam, Dong Hee Kim, Jae Boem Na, Sang Il Lee, Sun Chul Hwang, Ki Soo Park
PURPOSE: Upper extremity musculoskeletal disorders (UEMDs), such as rotator cuff tear, epicondylitis, and hand osteoarthritis, have a negative impact on quality of life (QOL). In this study, we evaluated the prevalence of rotator cuff tear, lateral and medial epicondylitis, and hand osteoarthritis in the dominant side and the impact of these UEMDs on the disabilities of the arm, shoulder, and hand (DASH) outcome measure, which assesses upper extremity-related QOL. MATERIALS AND METHODS: In 2013-2015, 987 participants from rural areas completed a questionnaire and underwent physical examinations, laboratory tests, simple radiographic evaluations of bilateral upper extremities, and magnetic resonance imaging studies of bilateral shoulders...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869464/comparison-of-the-panarray-hpv-genotyping-chip-test-with-the-cobas-4800-hpv-and-hybrid-capture-2-tests-for-detection-of-hpv-in-ascus-women
#19
COMPARATIVE STUDY
Eun Young Ki, Yoon Kyung Lee, Ahwon Lee, Jong Sup Park
PURPOSE: This study aimed to evaluate the performance of the PANArray human papilloma virus (HPV) test, a PCR-based DNA microarray assay, in detecting HPV from patient samples and its concordance with the cobas 4800 HPV and Hybrid Capture 2 (HC2) tests. MATERIALS AND METHODS: The PANArray HPV, cobas 4800 HPV, and HC2 tests were performed on 504 cervical swab samples from patients with atypical cells of undetermined significance at five hospitals. The samples that were interpreted as 'HPV-other' type positive in the PANArray HPV test were confirmed by direct sequencing...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29869463/a-new-integrated-newborn-screening-workflow-can-provide-a-shortcut-to-differential-diagnosis-and-confirmation-of-inherited-metabolic-diseases
#20
Jung Min Ko, Kyung Sun Park, Yeeok Kang, Seong Hyeuk Nam, Yoonjung Kim, Inho Park, Hyun Wook Chae, Soon Min Lee, Kyung A Lee, Jong Won Kim
PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants. MATERIALS AND METHODS: Ten patients in Group 1 were diagnosed clinically using biochemical assays only, and 10 newborns in Group 2 were diagnosed with suspected inherited metabolic disease (IMD) in NBS...
July 2018: Yonsei Medical Journal
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