• Title/Summary/Keyword: Clinical characteristic

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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

  • Park, Jin-Mo;Lee, Yun Jeong;Park, Jin-Sung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.97-101
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    • 2018
  • Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Mechanisms and Control Strategies of Antibiotic Resistance in Pathological Biofilms

  • Luo, Ying;Yang, Qianqian;Zhang, Dan;Yan, Wei
    • Journal of Microbiology and Biotechnology
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    • v.31 no.1
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    • pp.1-7
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    • 2021
  • Bacterial biofilm is a community of bacteria that are embedded and structured in a self-secreted extracellular matrix. An important clinical-related characteristic of bacterial biofilms is that they are much more resistant to antimicrobial agents than the planktonic cells (up to 1,000 times), which is one of the main causes of antibiotic resistance in clinics. Therefore, infections caused by biofilms are notoriously difficult to eradicate, such as lung infection caused by Pseudomonas aeruginosa in cystic fibrosis patients. Understanding the resistance mechanisms of biofilms will provide direct insights into how we overcome such resistance. In this review, we summarize the characteristics of biofilms and chronic infections associated with bacterial biofilms. We examine the current understanding and research progress on the major mechanisms of antibiotic resistance in biofilms, including quorum sensing. We also discuss the potential strategies that may overcome biofilm-related antibiotic resistance, focusing on targeting biofilm EPSs, blocking quorum sensing signaling, and using recombinant phages.

The Immune Landscape in Nonalcoholic Steatohepatitis

  • Sowmya Narayanan;Fionna A. Surette;Young S. Hahn
    • IMMUNE NETWORK
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    • v.16 no.3
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    • pp.147-158
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    • 2016
  • The liver lies at the intersection of multiple metabolic pathways and consequently plays a central role in lipid metabolism. Pathological disturbances in hepatic lipid metabolism are characteristic of chronic metabolic diseases, such as obesity-mediated insulin resistance, which can result in nonalcoholic fatty liver disease (NAFLD). Tissue damage induced in NAFLD activates and recruits liver-resident and non-resident immune cells, resulting in nonalcoholic steatohepatitis (NASH). Importantly, NASH is associated with an increased risk of significant clinical sequelae such as cirrhosis, cardiovascular diseases, and malignancies. In this review, we describe the immunopathogenesis of NASH by defining the known functions of immune cells in the progression and resolution of disease.

A narrative review of genomic characteristics, serotype, immunogenicity, and vaccine development of Streptococcus pneumoniae capsular polysaccharide

  • Ratna Fathma Sari;Fadilah Fadilah;Yustinus Maladan;Rosantia Sarassari;Dodi Safari
    • Clinical and Experimental Vaccine Research
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    • v.13 no.2
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    • pp.91-104
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    • 2024
  • This narrative review describes genomic characteristic, serotyping, immunogenicity, and vaccine development of Streptococcus pneumoniae capsular polysaccharide (CPS). CPS is a primary virulence factor of S. pneumoniae. The genomic characteristics of S. pneumoniae CPS, including the role of biosynthetic gene and genetic variation within cps (capsule polysaccharide) locus which may lead to serotype replacement are still being investigated. One hundred unique serotypes of S. pneumoniae have been identified through various methods of serotyping using phenotypic and genotypic approach. The advantages and limitations of each method are various, emphasizing the need for accurate and comprehensive serotyping for effective disease surveillance and vaccine targeting. In addition, we elaborate the critical role of CPS in vaccine development by providing an overview of immunogenicity, ongoing research of pneumococcal vaccines, and the impact on disease burden.

Research trends and Efficacy Analysis of Surface Characteristics of Bone Grafts (골이식재의 표면 특성 연구 동향과 유효성 분석)

  • Yong-Hoon Jeong;Gye-Wook Lee;Tae-Gon Jung
    • Journal of the Korean institute of surface engineering
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    • v.57 no.4
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    • pp.234-253
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    • 2024
  • As the population ages, the importance of effective bone disease treatments is increasing, highlighting the role of bone grafts. Bone grafts are categorized into natural (autografts, allografts, xenografts) and synthetic (ceramics, polymers). Natural grafts have excellent regenerative abilities but pose biological risks, while synthetic grafts are biocompatible but less effective in regeneration. Various studies aim to enhance the safety and efficacy of bone grafts, significantly altering their surface properties. This review examines these studies and the resulting surface changes, aiming to guide future research and clinical applications.

Anti-Müllerian hormone levels as a predictor of clinical pregnancy in in vitro fertilization/intracytoplasmic sperm injection-embryo transfer cycles in patients over 40 years of age

  • Park, Hyun Jong;Lyu, Sang Woo;Seok, Hyun Ha;Yoon, Tae Ki;Lee, Woo Sik
    • Clinical and Experimental Reproductive Medicine
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    • v.42 no.4
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    • pp.143-148
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    • 2015
  • Objective: The aim of the current study was to determine the predictive value of anti-$M{\ddot{u}}llerian$ hormone (AMH) levels for pregnancy outcomes in patients over 40 years of age who underwent in vitro fertilization or intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) cycles. Methods: We retrospectively analyzed the medical records of 188 women aged 40 to 44 years who underwent IVF/ICSI-fresh ET cycles due to unexplained infertility in the fertility center of CHA Gangnam Medical Center. Patients were divided into group A, with AMH levels <1.0 ng/mL (n=97), and group B, with AMH levels ${\geq}1.0ng/mL$ (n=91). We compared the clinical pregnancy rate (CPR) in the two groups and performed logistic regression analysis to identify factors that had a significant effect on the CPR. Results: The CPR was significantly lower in group A than group B (7.2% vs. 24.2%, p<0.001). In multivariate logistic regression analysis, AMH levels were the only factor that had a significant impact on the CPR (odds ratio, 1.510; 95% confidence interval, 1.172-1.947). The area under the receiver operating characteristic curve for AMH levels as a predictor of the CPR was 0.721. When the cut-off level of AMH was set at 1.90 ng/ mL, the CPR was 6.731-fold higher in the group with AMH levels ${\geq}1.90ng/mL$ than in the group with AMH levels <1.90 ng/mL (p<0.001). Conclusion: Our study showed that AMH levels were predictive of clinical pregnancy in infertility patients over 40 years of age. Further prospective studies should be conducted to validate the predictive capability of AMH levels for the outcome of clinical pregnancy.

Validation of Nursing Diagnose and Defining Characteristics for Patients with Cerebrovascular Accidents - Home Health Care Nursing (뇌혈관질환자와 관련된 간호진단 및 간호진단별 특성 규명과 타당성 조사연구 - 가정간호 대상자를 중심으로 -)

  • Kim, Hae-Young
    • Journal of Home Health Care Nursing
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    • v.2
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    • pp.35-51
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    • 1995
  • This study was done to define nursing diagnose and to test the validity of the characteristics for patients with cerebrovascular accidents being seen at home by home health care nurses. This study was a descriptive study. The sample consisted of 10 experts(professors and home health care nurses) who had had a variety of experience using nursing diagnoses in clinical practice, and 336 nurse progress notes for 18 patients with cerebrovascular accidents. First, 32 nursing diagnoses were defined by the analysis of 336 nurse progress notes, and ten nursing diagnoses were selected according to a criteria of frequency and four nursing diagnoses from home health care clinical practice. Second, content validity was examined by an expert group which considered the sign / symtoms of the fourteen nursing diagnoses. The instrument used for this was a checklist for sign / symtoms based on the nurse progress notes and literature : Carpenito(1993), Kim Cho Ja et al (1994), Lee Sun Ok et al.(1994), Kim Mae Ja et al. (1992), Seoul University Hospital (1993) , Kim Mi Ja et al. (1991). The data were collected from March 1995 to April 1995. Data were analyzed using Content Validity Incidence where if 80% or more of the expert group agreed, characteristics were defined as a major sign/symtoms, if between 50% and 79% of the expert group agreed with the characteristic it was defined as a minor sign / symtoms. The results of this study are summarized as follows : 1. Thirty-two nursing diagnoses related to patients with cerebrovascular accidents were defined. There was a high frequency for the following : 'Potential for disuse syndrome (61%)', 'Impaired physical mobility(50%)', 'Impaired skin integrity (44.4%)', Potential for aspiration(33.3%)', 'Potential for infection: respiration(33.3%)', 'Self-care deficit : bathing /hygine(27.8%)', 'Ineffective family coping(22.2%)', 'Potential for trauma(22.2%)', 'Alteration in nutrition: less than body requirements(22.2%)'. The following diagnoses were also used in home health care clinical practice : 'Anxiety in family (50%)', 'Caregiver fatigue(27.8%)', 'Ineffective treatment behavior (22.2%)', 'Ineffective Levin tube management and Levin tube feeding(22.2%)'. Fourteen nursing diagnoses were selected. 2. Ten of the nursing diagnoses for patients with cerebrovascular accident were listed as nursing diagnoses by NANDA but four nursing diagnoses were new nursing diagnoses used in home health care clinical practice. 3. Characteristics of the ten Nursing Diagnoses from NANDA were developed from the sign /symtoms in the literature and in the nurse progress notes. These characteristics was verified as major or minor sign / symtoms by the expert group. 4. Characteristics of the four nursing diagnoses used in home health care were not defined by the literature but only by the nurse progress notes and verified as major or minor signs /symtoms by the expert group. On the basis of the findings of this study, the following recommendations are made : 1. Continual study is necessary to identify other signs /symtoms not verified in this study. 2. It is necessary to use verified signs /symtoms in home health care clinical practice. 3. It is necessary to define related factors which define each diagnoses in this study. 4. It is necessary to develop of standardized nursing are plans which include defined signs and symtoms. 5. It is necessary to study the outcomes of the standardized nursing care plans.

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Differential Diagnosis of Chemical-induced Hepatobiliary Toxicities Using a New Hepatobiliary Imaging Agent in Mice

  • Ryu, Chong-Kun;Pie, Jae-Eun;Choe, Jae-Gol;Cheon, Joon;Sohn, Jeong-Won;Jurgen Seidel;David S. Paik;Michael V. Green;Chang H. Paik;Kim, Meyoung-Kon
    • Environmental Mutagens and Carcinogens
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    • v.21 no.1
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    • pp.1-8
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    • 2001
  • We have synthesized $^{99m}$Tc-mercaptoacetyltriglycine (MAG3)-biocytin as a new imaging agent for hepatobiliary scintigraphy. The aim of this study was to evaluate the usefulness of $^{99m}$Tc-MAG3-biocytin scintigraphy in differentiating carbon tetrachloride ( $CCl_4$)-induced hepatotoxicity from $\alpha$-naphthylisothiocyanate (ANIT)-induced cholestasis in mice, which reflecting the differential diagnosis of neonatal jaundice caused by neonatal hepatitis from congenital biliary atresia in humans. Methods: Balb/c mice (female, 20 g, n=4-6) were pretreated with $CCl_4$(0.5 or $1.0m\ell$/kg) and ANIT ($150 or 300 m\ell$/kg) 18 h before scintigraphy. Biochemical and histopathological examinations showed a pattern of typical acute hepatitis (increase of transaminases and hepatocellular necnsis) in $CCl_4$-treated mice and cholestasis (increase of alkaline phosphatase and ${\gamma}$-glutamyltransferase, and biliary hyperplasia) in ANIT-treated mice, respectively, Mice were fasted at least 4 hr prior to the intravenous injection of $^{99m}$Tc-MAG3-biocytin (18.5 MBq/20$\mu\textrm{g}$) in 2% human serum albumin in saline. Scintigraphy was performed with a ${\gamma}$-camera equipped with a 1-mm diameter pin-hole collimator for 30 min and images were acquired every 15 s. We compared the values of physical parameters, such as peak liver/heart ratio ($${\gamma}$_{max}$) and peak ratio time ($t_{max}$) far $^{99m}$Tc-MAG3-biocytin scintigraphy. Results: Scintigraphic parameters of the $CCl_4$-pretreated (0.5 $m\ell$/kg) group showed a 81.9% decrease of r$_{max}$, and 42.2% decrease of $t_{max}$, whereas the ANIT-pretreated ( $150m\ell$/kg) group showed a 53% decrease of $r_{max}$, and 2.36-fold increase of $t_{max}$, (P<0.05). These results demonstrate that the decrease of $r_{max}$ and the shortening of $t_{max}$ are characteristic features for hepatotoxicity, in contrast to the increase of $t_{max}$ and decrease of $r_{max}$ for biliary hyperplasia. Conclusion: $^{99m}$Tc-MAG3-biocytin hepatobiliary scintigraphy can distinguish hepatitis from cholestasis in mice model and may be similarly useful in humans which differentiating the cause of neonatal jaundice in clinical study.cal study.cal study.cal study.

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Factors Influencing the Satisfaction of In-School Clinical Practice Due to COVID-19 (COVID-19로 인한 교내 임상실습 영향요인)

  • Seung-Ju Kang;Chung-Sin Shim
    • Journal of Industrial Convergence
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    • v.20 no.12
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    • pp.245-250
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    • 2022
  • This study aims to identify the factors that affect the satisfaction of practice among nursing students who participated after replacing it with on-campus practice in a situation where practice was not possible due to COVID-19. Data were collected from 144 nursing students who participated in the clinical practice alternative campus practice conducted from September 13 to December 3, 2021 at a university located in G province. Data analysis was analyzed by ANOVA, Pearson's correlation coefficient, and hierarchical multiple regression analysis. The subject's satisfaction with practice is a general characteristic, self-efficacy (r=.540, p=.000), self-leadership (r=.553, p=.000), and critical thinking ability (r=.382, p=.000). , there was a significant correlation between major satisfaction (r= .248, p=.003). Variables that affect the clinical performance of the subjects were self-efficacy 20.4% (𝛽=.266, p=.047), self-leadership 51.2% (𝛽=.271, p=.047), and satisfaction with practice The explanatory power of the variables was 33.8%. Therefore, it is necessary to develop and apply a curriculum that can increase self-leadership and self-efficacy in order to increase the satisfaction of nursing students' practice.

Development and Validation of a Model Using Radiomics Features from an Apparent Diffusion Coefficient Map to Diagnose Local Tumor Recurrence in Patients Treated for Head and Neck Squamous Cell Carcinoma

  • Minjae Kim;Jeong Hyun Lee;Leehi Joo;Boryeong Jeong;Seonok Kim;Sungwon Ham;Jihye Yun;NamKug Kim;Sae Rom Chung;Young Jun Choi;Jung Hwan Baek;Ji Ye Lee;Ji-hoon Kim
    • Korean Journal of Radiology
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    • v.23 no.11
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    • pp.1078-1088
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    • 2022
  • Objective: To develop and validate a model using radiomics features from apparent diffusion coefficient (ADC) map to diagnose local tumor recurrence in head and neck squamous cell carcinoma (HNSCC). Materials and Methods: This retrospective study included 285 patients (mean age ± standard deviation, 62 ± 12 years; 220 male, 77.2%), including 215 for training (n = 161) and internal validation (n = 54) and 70 others for external validation, with newly developed contrast-enhancing lesions at the primary cancer site on the surveillance MRI following definitive treatment of HNSCC between January 2014 and October 2019. Of the 215 and 70 patients, 127 and 34, respectively, had local tumor recurrence. Radiomics models using radiomics scores were created separately for T2-weighted imaging (T2WI), contrast-enhanced T1-weighted imaging (CE-T1WI), and ADC maps using non-zero coefficients from the least absolute shrinkage and selection operator in the training set. Receiver operating characteristic (ROC) analysis was used to evaluate the diagnostic performance of each radiomics score and known clinical parameter (age, sex, and clinical stage) in the internal and external validation sets. Results: Five radiomics features from T2WI, six from CE-T1WI, and nine from ADC maps were selected and used to develop the respective radiomics models. The area under ROC curve (AUROC) of ADC radiomics score was 0.76 (95% confidence interval [CI], 0.62-0.89) and 0.77 (95% CI, 0.65-0.88) in the internal and external validation sets, respectively. These were significantly higher than the AUROC values of T2WI (0.53 [95% CI, 0.40-0.67], p = 0.006), CE-T1WI (0.53 [95% CI, 0.40-0.67], p = 0.012), and clinical parameters (0.53 [95% CI, 0.39-0.67], p = 0.021) in the external validation set. Conclusion: The radiomics model using ADC maps exhibited higher diagnostic performance than those of the radiomics models using T2WI or CE-T1WI and clinical parameters in the diagnosis of local tumor recurrence in HNSCC following definitive treatment.