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Background@#Molecular cancer profiling may lead to appropriate trials for molecularly targeted therapies. Cell-free DNA (cfDNA) is a promising diagnostic and/or prognostic biomarker in gastric cancer (GC). We characterized somatic genomic alterations in cfDNA of patients with GC. @*Methods@#Medical records and cfDNA data of 81 patients diagnosed as having GC were reviewed. Forty-nine and 32 patients were tested using the Oncomine Pan-Cancer CellFree Assay on the Ion Torrent platform and AlphaLiquid 100 kit on the Illumina platform, respectively. @*Results@#Tier I or II alterations were detected in 64.2% (52/81) of patients. Biomarkers for potential targeted therapy were detected in 55.6% of patients (45/81), and clinical trials are underway. ERBB2 amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, TP53 mutation (38.3%, 35 variants in 31 patients, 31/81) and FGFR2 amplification (6.2%, 5/81) were detected the most. @*Conclusions@#Next-generation sequencing of cfDNA is a promising technique for the molecular profiling of GC. Evidence suggests that cfDNA analysis can provide accurate and reliable information on somatic genomic alterations in patients with GC, potentially replacing tissue biopsy as a diagnostic and prognostic tool. Through cfDNA analysis for molecular profiling, it may be possible to translate the molecular classification into therapeutic targets and predictive biomarkers, leading to personalized treatment options for patients with GC in the future.
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Background@#Marfan syndrome (MFS) is caused by fibrillin-1 gene (FBN1) variants. Mutational hotspots and/or well-established critical functional domains of FBN1 include cysteine residues, calcium-binding consensus sequences, and amino acids related to interdomain packaging. Previous guidelines for variant interpretation do not reflect the features of genes or related diseases. Using the Clinical Genome Resource (ClinGen) FBN1 variant curation expert panel (VCEP), we re-evaluated FBN1 germline variants reported as variants of uncertain significance (VUSs). @*Methods@#We re-evaluated 26 VUSs in FBN1 reported in 161 patients with MFS. We checked the variants in the Human Genome Mutation Database, ClinVar, and VarSome databases and assessed their allele frequencies using the gnomAD database. Patients’ clinical information was reviewed. @*Results@#Four missense variants affecting cysteines (c.460T > C, c.1006T > C, c.5330G > C, and c.8020T > C) were reclassified as likely pathogenic and were assigned PM1_strong or PM1. Two intronic variants were reclassified as benign by granting BA1 (stand-alone). Four missense variants were reclassified as likely benign. BP5 criteria were applied in cases with an alternate molecular basis for disease, one of which (c.7231G > A) was discovered alongside a pathogenic de novo COL3A1 variant (c.1988G > T, p.Gly633Val). @*Conclusions@#Considering the high penetrance of FBN1 variants and clinical variability of MFS, the detection of pathogenic variants is important. The ClinGen FBN1 VCEP encompasses mutational hotspots and/or well-established critical functional domains and adjusts the criteria specifically for MFS; therefore, it is beneficial not only for identifying pathogenic FBN1 variants but also for distinguishing these variants from those that cause other connective tissue disorders with overlapping clinical features.
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Purpose@#This study’s aim was to confirm the importance and performance of the clinical practice of nurses working in the general wards of a tertiary hospital and to analyze their educational needs. @*Methods@#The study employed a descriptive research design, and a self-reported questionnaire was developed and used for nurses in a tertiary hospital. Data were collected from July 22 to July 29, 2022, analyzed by an independent t-test, paired t-test, and one-way ANOVA for the importance and performance of each clinical nursing practice according to general characteristics, and then a post hoc verification was performed by Scheffé’s test. An Importance-Performance Analysis and Borich needs assessment model were used to analyze clinical nursing education needs. @*Results@#Clinical nursing practice performance showed a significant difference according to length of total clinical career, time working in current department, and preceptor experience. According to the results of the Importance-Performance Analysis, neurological evaluation, and nursing intervention, artificial respirator and high-flow oxygen inhalation nursing, chemotherapy, emergency nursing, and cardiopulmonary resuscitation were identified as belonging to the “concentrate here” quadrant. All these items ranked in the top 10 in the Borich needs assessment model. @*Conclusion@#Based on these results, the current education system should be reviewed, and short and long term education strategies based on educational needs should be established to strengthen the competence of nurses.
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The gut microbiota has been reported to exert a significant influence on various physiological responses of hosts. Extensive evidence has recently emerged linking metabolic and cardiovascular disorders to the gut microbiota. Nonalcoholic fatty liver disease (NAFLD) is the most common underlying metabolic disorder, and its prevalence is increasing worldwide. In this study, we aim to review the relationship between the gut microbiota and NAFLD, and explore the potential of the gut microbiota as a novel target for NAFLD treatment.
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Background@#Following success of the phase III PROfound trial, the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib was approved by the US Food and Drug Administration in May 2020 for adult patients with deleterious homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). As locally adopted multigene panel next-generation sequencing (NGS) assays for selecting PARP inhibitor candidates have not been thoroughly evaluated, we compared the analytical performance of the FoundationOne CDx (Foundation Medicine, Inc., Cambridge, MA, USA) (central laboratory) and other NGS assays (local laboratory) with samples from the PROfound trial in Korea. @*Methods@#One hundred PROfound samples (60 HRR mutation [HRRm] cases and 40 non-HRRm cases) were analyzed. The results of HRR gene mutation analysis were compared between the FoundationOne CDx and two other NGS assays [SureSelect Custom Design assay (Agilent Technologies, Inc., Santa Clara, CA, USA) and Oncomine Comprehensive assay (Thermo Fisher Scientific, Inc., Waltham, MA, USA)]. @*Results@#The positive percent agreement for single nucleotide variants (SNVs) and insertion/deletions (indels) between the central laboratory and local laboratory was 98.7%–100.0%. The negative percent agreement and overall percent agreement (OPA) for SNVs and indels between central and local laboratories were both 100%. Compared with that of the FoundationOne CDx assay, the OPA for copy number variations of the Oncomine Comprehensive and SureSelect Custom assays reached 99.8%–100%. Most mCRPC patients harboring a deleterious genetic variant were successfully identified with both local laboratory assays. @*Conclusions@#The NGS approach at a local laboratory showed comparable analytical performance for identifying HRRm status to the FoundationOne CDx assay used at the central laboratory.
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Background@#Intestinal protozoan infection is one of the main causes of gastrointestinal diseases. Protozoa are usually detected by direct smear microscopy, concentration techniques, or special stains; however, these techniques are labor-intensive and require well-trained technicians. Therefore, molecular techniques involving polymerase chain reaction (PCR) have been developed to satisfy the need for unbiased and rapid analytical methods with high sensitivity and specificity. In this study, the BD MAXTM Enteric Parasite Panel (EPP) (Becton, Dickinson and Company, USA), designed to detect Cryptosporidium parvum and/or hominis, Giardia lamblia, and Entamoeba histolytica, and the AllplexTM Gastrointestinal Parasite Assays (AGPA) (Seegene Inc., Korea), designed to detect Cryptosporidium species, G. lamblia, E. histolytica, Blastocystis hominis, Dientamoeba fragilis, and Cyclospora cayetanensis were compared to determine whether any of these assays could become a useful tool for detecting intestinal protozoan infections in Korea. @*Methods@#We investigated 295 fecal samples using EPP and AGPA. Then we confirmed the positive results with the conventional and nested PCR. Consistent detection by conventional PCR, nested PCR, and one of the multiplex panels was considered “true positive.” @*Results@#Out of 295 samples, 17 were true positives for B. hominis and 2 were true positives for E. histolytica. EPP detected parasites in only two samples owing to its design; however, its true positive detection rate was 100% (2/2). AGPA detected parasites in 24 samples with 79.2% (19/24) true positives. @*Conclusions@#The incidence of protozoan, especially B. hominis, infection may be more prevalent than expected. AGPA could be an effective tool for screening protozoan infections.
摘要
Subject(s)
Female , Humans , Young Adult , Anemia , Antibodies , Blood Transfusion , Erythrocytes , Intellectual Disability , Iron , Isoantibodies , Korea , Mass Screening , P Blood-Group System , Phenotype , Polymerase Chain Reaction , Prevalence , Rehabilitation , Serologic Tests摘要
Appropriate reference intervals of serum insulin-like growth factor I (IGF-I) is important for diagnosing and monitoring patients with growth hormone-related diseases. To establish reference intervals, adult individuals (n=1,334, 680 men and 654 women) were divided into six age groups (20–29, 30–39, 40–49, 50–59, 60–69, ≥70). Serum IGF-I was measured by chemiluminescence immunoassay (Liaison). Concordance of patient classification based on reference intervals, manufacturer’s intervals, and standard deviation score (SDS) was evaluated. New reference intervals had higher upper and lower limits than those specified by the manufacturer. The agreement between classification using new reference interval and the manufacturer’s reference interval, and that using new reference interval and SDS was 75.0% (weighted kappa, 0.17), 91.9% (weighted kappa, 0.51) in men and 91.0% (weighted kappa, 0.41), 92.5% (weighted kappa, 0.53) in women, respectively. Reference intervals should be established not only based on age and sex, but also on ethnicity and assay method.
摘要
Appropriate reference intervals of serum insulin-like growth factor I (IGF-I) is important for diagnosing and monitoring patients with growth hormone-related diseases. To establish reference intervals, adult individuals (n=1,334, 680 men and 654 women) were divided into six age groups (20–29, 30–39, 40–49, 50–59, 60–69, ≥70). Serum IGF-I was measured by chemiluminescence immunoassay (Liaison). Concordance of patient classification based on reference intervals, manufacturer’s intervals, and standard deviation score (SDS) was evaluated. New reference intervals had higher upper and lower limits than those specified by the manufacturer. The agreement between classification using new reference interval and the manufacturer’s reference interval, and that using new reference interval and SDS was 75.0% (weighted kappa, 0.17), 91.9% (weighted kappa, 0.51) in men and 91.0% (weighted kappa, 0.41), 92.5% (weighted kappa, 0.53) in women, respectively. Reference intervals should be established not only based on age and sex, but also on ethnicity and assay method.
摘要
Halitosis is a very common disease that affects the majority of the population and is characterized by unpleasant odor during expiration. Anaerobic bacteria produce a range of malodorous substances including volatile sulfur compounds. To reduce oral malodor, the amount of oral microorganisms should be managed through brushing, scraping, and use of antibacterial agents. In this study, a mouthwash containing 0.05% cetylpyridinium chloride was tested on 22 candidates with oral malodor for two weeks to confirm oral malodor reduction through the use of antibacterial mouthwashes. Volatile sulfur compound measurements were significantly lower after using the mouthwash than before using it; thus, the mouthwash effectively reduced oral malodor.
Subject(s)
Anti-Bacterial Agents , Bacteria , Bacteria, Anaerobic , Cetylpyridinium , Halitosis , Mouth , Mouthwashes , Odorants , Sterilization , Sulfur , Sulfur Compounds摘要
The purpose of this study was to survey opinions and to gather data of private psychiatric practitioners in Korea about their quality of life, business environment, and government policy of interest. The questionnaire was composed of 14 categories and 53 questions were administered to approximately 150 private psychiatric practitioners by E-mail and post mail concerning the present state, critique and prediction about their practice, business, and government policy. A total of 47 practitioners responded and we could gather meaningful data. Their responses regarding quality of life and satisfaction as a specialist were "a little" and they had many complaints of lack of income, stress of practice, anxieties of government control, and too much work. They had various adaptation skills to these "bad" situations and asked active plan to Korean Psychiatric Practitioners Association and government for present and future development of practice environment. These results provide meaningful data for understanding private psychiatric practitioners' opinions and behavioral patterns to adapt to their business area, and also suggest present and future direction for development of a medium and long-term plan against government policy and market change. This study will provide the basis for further investigation and projects in the near future.
Subject(s)
Anxiety , Commerce , Electronic Mail , Evaluation Studies as Topic , Korea , Postal Service , Quality of Life , Surveys and Questionnaires , Specialization摘要
This paper describes a web-based pulse wave information management system that applies the web solution to the pulse wave extraction and management of the patient's bio-signals. In the oriental medicine, the abnormal arterial pulse wave signals generated from the specific point of body are thought to be related to certain disease conditions of specific internal organs. Therefore, evaluating the pulse wave signals has long been used a major diagnostic means. Numerous studies have been carried out on the development of the pulse wave measuring instruments that c an simply check the one's pulse waves on the radial artery, however, fewer researches have been performed to analyze pulse waves and manage the information in association with the oriental medical information system. Recently, as the usage of instrumental pulse wave analysis is increasing in the practice of the oriental medicine, needs of the pulse wave information management system that can be interfaced with the oriental medical information system are also inc reasing. The web-based pulse wave information management system provides ea sy acc ess, analysis and management of the pulse waves at anywhere one just connects the pulse wave analyser and web browser with the server system and it can also provide the high availability of the pulse wave data. All pulse wave data were easily managed with XML based communication for interchange of the pulse wave data among the existing oriental medicine information systems.