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Objectives We aimed to develop and validate the automatic quantification of COVID-19 pneumonia on CT images. Methods This retrospective study included 176 chest CT scans of 131 COVID-19 patients from 13 Korean and Chinese institutions. Two experienced radiologists semi-automatically drew pneumonia, preparing 49,830 positive and negative CT slices to develop the 2D U-Net for segmenting pneumonia. The 2D U-Net was distributed as downloadable software. External validation for quantifications’ accuracy was performed using Japanese, Italian, Radiopaedia, Chinese datasets. Primary measures for the accuracy of the network were correlation coefficients for extent (%) and weight (g) of pneumonia. Logistic regression analyses were performed to evaluate the clinical implication of the extent and weight regarding the presence of symptoms in the Japanese dataset and the occurrence of composite outcome in the Spanish dataset. Results In the internal validation dataset, the intraclass correlation coefficients between the 2D U-Net and reference values for the extent and weight were 0.990 and 0.993, respectively. In the Japanese dataset, the Pearson correlation coefficients between the U-Net outcomes and visual CT severity scores were 0.908 and 0.899, respectively. In the other external validation datasets, the intraclass correlation coefficients between the U-Net and reference values were between 0.951-0.970 (extent) and between 0.970-0.995 (weight), respectively. In multivariate logistic regression analyses, the extent and weight of pneumonia were independently associated with symptoms (OR, 4.142 and 4.434; p=.013 and .009, respectively), and poor prognosis (OR, 7.446 and 4.677; p=.004 and .029, respectively).Conclusions CT extent and weight of COVID-19 pneumonia were automatically quantifiable and independently associated with symptoms and prognosis.

ObjectiveTo examine the kinetic characteristics of platelet (PLT) destruction and thrombopoiesis by using mean platelet volume (MPV) and platelet distribution width (PDW).MethodsUsing the ADVIA2120i instrument, we measured PLT counts, MPV, and PDW in 153 healthy individuals, 35 patients with immune thrombocytopenic purpura (ITP), and 48 patients with essential thrombocytopenia (ET).ResultsIn the ITP group, the MPV and PDW were higher than those values in healthy individuals. In the ET group, the MPV was lower than in the ITP group and in healthy individuals, and the PDW was lower than in the ITP group. When the ITP group was subdivided (PLT counts ConclusionsIn ITP, the overall PLT composition varies, and PLT sequestration is nondiscriminatory. In ET, PLTs quickly shrink and remain small, resulting in a high proportion of small-sized PLTs.

BACKGROUND: Computed tomography (CT) screening for lung cancer has led to frequent findings of small anterior mediastinal masses. It is very hard to distinguish small thymomas from thymic cysts. The objective of this study was to develop a clinical model for predicting small thymomas (

Bone marrow necrosis (BMN) is a rare life-threatening condition in which the marrow is replaced by necrotic material. Half of BMN occurrences are attributed to chemotherapy or granulocyte-colony stimulating factor treatment in patients with hematolymphoid malignancies. However, we present a patient diagnosed with both multiple myeloma and extensive BMN despite being treatment-naïve. Our patient exhibited a

Thalassemia is the most common form of hereditary anemia. Here, we aimed to investigate the 13-year trend of the epidemiologic profiles and risk of comorbidities in thalassemia using a nationwide population-based registry in Korea. Diagnosis of thalassemia, the comorbidities and transfusion events in patients with thalassemia were identified in the Korean National Health Insurance database, which includes the entire population. The prevalence of thalassemia increased from 0.74/100,000 in 2006 to 2.76/100,000 in 2018. Notably, the incidence rate has nearly doubled in the last 2 years from 0.22/100,000 in 2016 to 0.41/100,000 in 2018. The annual transfusion rate gradually decreased from 34.7% in 2006 to 20.6% in 2018. Transfusion events in patients with thalassemia were significantly associated with the risk of comorbidities (diabetes: odds ratio [OR] = 3.68, 95% confidence interval [CI] = 2.59–5.22; hypertension: OR = 3.06, 95% CI = 2.35–4.00; dyslipidemia: OR = 1.72, 95% CI = 1.22–2.43; atrial fibrillation: OR = 3.52, 95% CI = 1.69–7.32; myocardial infarction: OR = 3.02, 95% CI = 1.09–8.38; stroke: OR = 3.32, 95% CI = 2.05–5.36; congestive heart failure: OR = 2.83, 95% CI = 1.62–4.97; end-stage renal disease: OR = 3.25, 95% CI = 1.96–5.37). Early detection of comorbidities and timely intervention are required for the management of thalassemia.

BackgroundBRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To minimise the proportion of VUS in BRCA1/2, we performed the multifactorial likelihood analysis and validated this method using an independent cohort of patients with breast cancer.MethodsWe used a data set of 2115 patients with breast cancer from the nationwide multicentre prospective Korean Hereditary Breast Cancer study. In total, 83 BRCA1/2 VUSs (BRCA1, n=26; BRCA2, n=57) were analysed. The multifactorial probability was estimated by combining the prior probability with the overall likelihood ratio derived from co-occurrence of each VUS with pathogenic variants, personal and family history, and tumour characteristics. The classification was compared with the interpretation according to the American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG/AMP) guidelines. An external validation was conducted using independent data set of 810 patients.ResultsWe were able to redefine 38 VUSs (BRCA1, n=10; BRCA2, n=28). The revised classification was highly correlated with the ACMG/AMP guideline-based interpretation (BRCA1, p for trend=0.015; BRCA2, p=0.001). Our approach reduced the proportion of VUS from 19% (154/810) to 8.9% (72/810) in the retrospective validation data set.ConclusionThe classification in this study would minimise the ‘uncertainty’ in clinical interpretation, and this validated multifactorial model can be used for the reliable annotation of BRCA1/2 VUSs.

A new varying coefficient model that relates functional response to functional predictors is proposed and studied. The model accommodates the influence of the functional predictors on the time-varying coefficient functions. A powerful kernel smoothing technique is developed for estimating the model with longitudinal observations of the functional response and predictors. The method involves a backfitting iteration that is based on alternating conditional expectation. The convergence of the algorithm is established and the asymptotic distribution of the coefficient function estimators is derived. It is shown that the method works well for finite sample sizes via simulation studies. The proposed model and method are also applied to analyzing an air quality dataset.

In this paper we discuss the estimation of a bivariate additive model where the multivariate regression function is expressed as a sum of unknown univariate and bivariate component functions. We discuss the identifiability of the component functions and show that each component function of the model can be estimated at the optimal rate in bivariate kernel smoothing.

Chronic lymphocytic leukaemia (CLL) exhibits differences between Asians and Caucasians in terms of incidence rate, age at onset, immunophenotype, and genetic profile. We performed genome-wide methylation profiling of CLL in an Asian cohort for the first time. Eight Korean patients without somatic immunoglobulin heavy chain gene hypermutations underwent methyl-CpG-binding domain sequencing (MBD-seq), as did five control subjects. Gene Ontology, pathway analysis, and network-based prioritization of differentially methylated genes were also performed. More regions were hypomethylated (2,062 windows) than were hypermethylated (777 windows). Promoters contained the highest proportion of differentially methylated regions (0.08%), while distal intergenic and intron regions contained the largest number of differentially methylated regions. Protein-coding genes were the most abundant, followed by long noncoding and short noncoding genes. The most significantly over-represented signalling pathways in the differentially methylated gene list included immune/cancer-related pathways and B-cell receptor signalling. Among the top 10 hub genes identified via network-based prioritization, four (UBC, GRB2, CREBBP, and GAB2) had no known relevance to CLL, while the other six (STAT3, PTPN6, SYK, STAT5B, XPO1, and ABL1) have previously been linked to CLL in Caucasians. As such, our analysis identified four novel candidate genes of potential significance to Asian patients with CLL.

Background The Korean Society of Thoracic Radiology (KSTR) recently constructed a nation-wide coronavirus disease 2019 (COVID-19) database and imaging repository, referred to the Korean imaging cohort of COVID-19 (KICC-19) based on the collaborative efforts of its members. The purpose of this study was to provide a summary of the clinico-epidemiological data and imaging data of the KICC-19. Methods The KSTR members at 17 COVID-19 referral centers retrospectively collected imaging data and clinical information of consecutive patients with reverse transcription polymerase chain reaction-proven COVID-19 in respiratory specimens from February 2020 through May 2020 who underwent diagnostic chest computed tomography (CT) or radiograph in each participating hospital. Results The cohort consisted of 239 men and 283 women (mean age, 52.3 years; age range, 11–97 years). Of the 522 subjects, 201 (38.5%) had an underlying disease. The most common symptoms were fever (n = 292) and cough (n = 245). The 151 patients (28.9%) had lymphocytopenia, 86 had (16.5%) thrombocytopenia, and 227 patients (43.5%) had an elevated CRP at admission. The 121 (23.4%) needed nasal oxygen therapy or mechanical ventilation (n = 38; 7.3%), and 49 patients (9.4%) were admitted to an intensive care unit. Although most patients had cured, 21 patients (4.0%) died. The 465 (89.1%) subjects underwent a low to standard-dose chest CT scan at least once during hospitalization, resulting in a total of 658 CT scans. The 497 subjects (95.2%) underwent chest radiography at least once during hospitalization, which resulted in a total of 1,475 chest radiographs. Conclusion The KICC-19 was successfully established and comprised of 658 CT scans and 1,475 chest radiographs of 522 hospitalized Korean COVID-19 patients. The KICC-19 will provide a more comprehensive understanding of the clinical, epidemiological, and radiologic characteristics of patients with COVID-19., Graphical Abstract

Background: We aimed to develop and distribute free artificial intelligence (AI) software for the automatic quantification of coronavirus disease 2019 (COVID-19) pneumonia on computed tomography (CT) images. Methods: We included 150 chest CT scans (17 CT scanners; five vendors) of 105 COVID-19 patients from 13 Korean and Chinese institutions. Two experienced radiologists semi-automatically drew lung opacities in every CT image, preparing 28,580 positive and negative CT slices to develop the 2D U-Net for segmenting pneumonia. The 2D U-Net was distributed as downloadable free software for local use on computers without data privacy concerns. External validation was performed using a Japanese single-institutional dataset and a public Italian dataset. Primary measures for the performance of the network were correlation coefficients for extent (%) and weight (g) of pneumonia. We surveyed user experiences. Findings: In the internal validation dataset, the intraclass correlation coefficients between the 2D U-Net and reference values for the extent and weight were 0·987 and 0·992, respectively. In the Japanese dataset, the Pearson correlation coefficients between the visual CT severity score and 2D U-Net outcomes were 0·906 and 0·916, respectively. In the Italian dataset, the intraclass correlation coefficients between the 2D U-Net and reference values for extent and weight were 0·921 and 0·970, respectively. The median satisfaction score was 9/10 and most respondents replied to use the software willingly. Interpretation: AI software for the automatic quantification of COVID-19 pneumonia on CT images was successfully developed and distributed freely worldwide. Funding Statement: There was no funding source for this study. Declaration of Interests: Sang Joon Park is the CEO of Medical IP. Gin Mo Goo has grants from Infinitt Healthcare, grants from Dongkook Lifescience, outside the submitted work. All the other authors have no potential conflicts of interest to disclose. Ethics Approval Statement: The institutional review board of the participating hospitals approved this retrospective study, and the requirement for patient consent was waived.

Circulating tumor DNA (ctDNA) is a promising prognostic biomarker in various cancers. Due to the high recurrence rate of resectable pancreatic ductal adenocarcinoma (PDAC), effective strategies for prognostic stratification are necessary. Yet, for resectable PDAC, prognostic impact of ctDNA lacks systemic evidence. We sought to investigate the prognostic significance of baseline ctDNA and postoperative ctDNA in patients with resectable PDAC. PubMed, EMBASE, and the Cochrane library were searched up to March 2019. Five studies met the inclusion criteria, and 375 patients were pooled for the meta-analysis. Positive ctDNA significantly indicated poor overall survival (at baseline, hazard ratio [HR] 2.27, 95% confidence interval [CI] 1.13–4.56; postoperative, HR 3.66, 95% CI 1.45–9.28). Patients with detectable ctDNA showed the trend to have higher risk for disease recurrence than those without detectable ctDNA (at baseline, HR 1.96, 95% CI 0.65–5.87; postoperative, HR 2.20, 95% CI 0.99–4.87). The results were consistent regardless of pre- or post-operative ctDNA. There was no significant heterogeneity among the included studies. In conclusion, our meta-analysis revealed that ctDNA, either at baseline or postoperative, might be a useful prognostic biomarker for stratifying risk of death and recurrence in resectable PDAC.

The clinical phenotypes and prognoses of CALR-mutant myeloproliferative neoplasms depend on the mutation type. The 2 most common mutations, type 1 (52-bp deletion) and type 2 (5-bp insertion), account for 85% of CALR-mutated neoplasms. The former confers a myelofibrotic phenotype, and the latter is associated with a low risk of thrombosis and an indolent clinical course. Individual case reports for patients with novel pathogenic CALR mutations are rare. Herein, we present the first case in the literature, to our knowledge, of a 63-year old ethnic Korean man with essential thrombocythemia who was diagnosed with a novel +1-bp frameshift mutation in CALR, which was predicted to exhibit a type 2–like phenotype.

ObjectiveThe incidence rate of Parkinson’s disease (PD) is growing rapidly owing to the ageing population. We investigated the mortality rates and causes of death in South Korean patients with PD.DesignWe investigated a national cohort using the nationwide insurance database.SettingKorean Health Insurance Review and Assessment Service—National Sample Cohort database.ParticipantsWe included 3510 participants ≥60 years of age who were diagnosed with PD between 2002 and 2013, as well as 14 040 matched controls.InterventionsNonePrimary and secondary outcome measuresA stratified Cox proportional hazards model was used to evaluate patients with PD who were matched 1:4 with non-PD control subjects adjusted for age, sex, income and region of residence. The causes of death were grouped into 12 classifications.ResultsThe adjusted HR for mortality in the PD group was 2.09 (95% CI 1.94 to 2.24, pConclusionsWe demonstrated that PD in South Korean patients ≥60 years of age was associated with increased mortality in both sexes regardless of age.

Background Choosing the specimen type is the first step of the pre-analytical process. Previous reports suggested plasma as the optimal specimen for circulating tumor DNA (ctDNA) analysis. However, head-to-head comparisons between plasma and serum using platforms with high analytical sensitivity, such as droplet digital polymerase chain reaction (ddPCR), are limited, and several recent studies have supported the clinical utility of serum-derived ctDNA. This study aimed to compare the DNA profiles isolated from plasma and serum, characterize the effects of the differences between specimens on ctDNA measurement, and determine the major contributors to these differences. Methods We isolated cell-free DNA (cfDNA) from 119 matched plasma/serum samples from cancer patients and analyzed the cfDNA profiles by DNA fragment sizing. We then assessed KRAS mutations in ctDNA from matched plasma/serum using ddPCR. Results The amount of large DNA fragments was increased in serum, whereas that of cfDNA fragments (KRAS-mutated fraction in serum was significantly lower than that in plasma. The differences in ctDNA fractions between the two specimen types correlated well with the amount of large DNA fragments and white blood cell and neutrophil counts. Conclusions Our results provided detailed insights into the differences between plasma and serum using DNA fragment sizing and ddPCR, potentially contributing to ctDNA analysis standardization. Our study also suggested that using plasma minimizes the dilution of tumor-derived DNA and optimizes the sensitivity of ctDNA analysis. So, plasma should be the preferred specimen type.

BACKGROUND Platelets are large when young and immature and shrink as they age. The mean platelet volume (MPV) and platelet distribution width (PDW) reflect the volume and distribution of platelets, respectively. We compared the MPVs and PDWs of patients with immune thrombocytopenic purpura (ITP) or essential thrombocythemia (ET) to those of healthy individuals to test whether these values can reflect the pathomechanisms of these diseases. METHODS Platelet counts, MPVs, and PDWs were measured in 153 healthy individuals and in 20 and 34 patients with ITP and ET, respectively, using an XN-3000 instrument. RESULTS The MPVs and PDWs were significantly higher in ITP patients than in healthy individuals or ET patients. The MPVs were significantly lower in ET patients than in both ITP patients and healthy individuals; however, the PDWs in ET patients were similar to those in healthy individuals. The MPVs and PDWs did not correlate with platelet count in ITP or ET patients. CONCLUSIONS Our data suggested an increased production of young, large platelets and nondiscriminatory destruction of circulating platelets irrespective of their ages in ITP. Decreased MPVs and unelevated PDWs in ET suggest that clonal process-produced platelets remain small throughout their lifespans.

This paper discusses the estimation of a semiparametric structured density model that is very useful in forecasting the density on a region where the data are not observed. The model has many applications in actuarial science and mortality forecasting. It has a multiplicative structure with both parametric and nonparametric components that can be estimated based on the data at hand. The problem of estimating the parametric component is nonstandard since the information about the parametric component can be gathered through the derivative of the nonparametric components that are hard to estimate. We propose a simple procedure of estimating the parametric component, which may be used to construct estimators of the nonparametric components. We show that our estimator is consistent with a certain rate and also that it works quite well for finite sample sizes.

Background We comprehensively profiled cytogenetic abnormalities in multiple myeloma (MM) and analyzed the relationship between cytogenetic abnormalities of undetermined prognostic significance and established prognostic factors. Methods The karyotype of 333 newly diagnosed MM cases was analyzed in association with established prognostic factors. Survival analysis was also performed. Results MM with abnormal karyotypes (41.1%) exhibited high international scoring system (ISS) stage, frequent IgA type, elevated IgG or IgA levels, elevated calcium levels, elevated creatine (Cr) levels, elevated β2-microglobulin levels, and decreased Hb levels. Structural abnormalities in chromosomes 1q, 4, and 13 were independently associated with elevated levels of IgG or IgA, calcium, and Cr, respectively. Chromosome 13 abnormalities were associated with poor prognosis and decreased overall survival. Conclusions This is the first study to demonstrate that abnormalities in chromosomes 1q, 4, and 13 are associated with established factors for poor prognosis, irrespective of the presence of other concurrent chromosomal abnormalities. Chromosome 13 abnormalities have a prognostic impact on overall survival in association with elevated Cr levels. Frequent centromeric breakpoints appear to be related to MM pathogenesis.

Hemolysis frequently causes preanalytical errors in laboratory measurements. We aimed to develop a quality improvement indicator for evaluating the extent of inappropriate procedures causing hemolysis in clinical samples collected in medical care units. We defined the threshold value of the hemolysis index (H index) causing significant interference with analyte measurement and analyzed the H index values of clinical samples in relation to the threshold. The H index threshold value causing a 10% bias in the measurement of lactate dehydrogenase was found to be 25. The monthly mean H index and monthly frequency of samples with an H index >25 were significantly different among the types of ward (P=0.001, respectively), and significantly decreased after replacement of a laboratory centrifuge lacking temperature control (20.6±0.58 vs 23.30±1.08, P=0.01; 23.4±1.69% vs 32.6±1.78%, P=0.01). The monthly mean H index and the monthly frequency of samples with an H index above a threshold value may be useful quality improvement indicators for detection of inappropriate procedures in the acquisition and handling of blood samples in medical care units.

Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes. Here, we present an infant from a consanguineous union with both ectrodactyly and autopsy confirmed acinar dysplasia. SNP array and whole-exome sequencing analyses of the affected infant identified a novel homozygous Fibroblast Growth Factor Receptor 2 (FGFR2) missense mutation (p.R255Q) in the IgIII domain (D3). Expression studies of Fgfr2 in development show localization to the affected limbs and organs. Molecular modeling and genetic and functional assays support that this mutation is at least a partial loss-of-function mutation, and contributes to ectrodactyly and acinar dysplasia only in homozygosity, unlike previously reported heterozygous activating FGFR2 mutations that cause Crouzon, Apert, and Pfeiffer syndromes. This is the first report of mutations in a human disease with ectrodactyly with pulmonary acinar dysplasia and, as such, homozygous loss-of-function FGFR2 mutations represent a unique syndrome.

SRY (Sex Determining Region Y)-Box 4 or Sox4 is an important regulator of the pan-neuronal gene expression during post-mitotic cell differentiation within the mammalian brain. Sox4 gene locus has been previously characterized with multiple sense and overlapping natural antisense transcripts [1,2]. Here we provide accompanying data on various analyses performed and described in Ling et al. [2]. The data include a detail description of various features found at Sox4 gene locus, additional experimental data derived from RNA-Fluorescence in situ Hybridization (RNA-FISH), Western blotting, strand-specific reverse-transcription quantitative polymerase chain reaction (RT-qPCR), gain-of-function and in situ hybridization (ISH) experiments. All the additional data provided here support the existence of an endogenous small interfering- or PIWI interacting-like small RNA known as Sox4_sir3, which origin was found within the overlapping region consisting of a sense and a natural antisense transcript known as Sox4ot1. Keywords: Endogenous siRNA, Brain development, Natural antisense transcripts

To retrospectively evaluate the chest computed tomography (CT) findings of coronavirus disease 2019 (COVID-19) in patients with mild clinical symptoms at a single hospital in South Korea.CT scans of 87 COVID-19 patients [43 men and 44 women; median age: 41 years (interquartile range: 26.1-51.0 years)] with mild clinical symptoms (fever38℃ and no dyspnea) were evaluated.CT findings were normal in 39 (44.8%) and abnormal in 48 (55.2%) patients. Among the 48 patients with lung opacities, 17 (35.4%) had unilateral disease and 31 (64.6%) had bilateral disease. One (2.1%) patient showed subpleural distribution, 9 (18.8%) showed peribronchovascular distribution, and 38 (79.2%) showed subpleural and peribronchovascular distributions. Twenty-two (45.8%) patients had pure ground-glass opacities (GGOs) with no consolidation, 17 (35.4%) had mixed opacities dominated by GGOs, and 9 (18.8%) had mixed opacities dominated by consolidation. No patients demonstrated consolidation without GGOs.The most common CT finding of COVID-19 in patients with mild clinical symptoms was bilateral multiple GGO-dominant lesions with subpleural and peribronchovascular distribution and lower lung predilection. The initial chest CT of almost half of COVID-19 patients with mild clinical symptoms showed no lung parenchymal lesions. Compared to relatively severe cases, mild cases were more likely to manifest as unilateral disease with pure GGOs or GGO-dominant mixed opacities and less likely to show air bronchogram.경증의 임상 소견을 보이는 coronavirus disease 2019 (이하 COVID-19) 환자들의 흉부 CT 소견에 대하여 후향적으로 평가하고자 한다.경증의 임상 소견(발열38℃ 호흡 곤란 없음)을 보이는 87명의 COVID-19 환자의 흉부 CT 소견을 평가하였다.39명(44.8%)의 환자는 정상 CT 소견을 보였으며, 48명(55.2%)은 비정상 CT 소견을 보였다. 폐 실질 병변이 있는 48명의 환자 중 17명(35.4%)이 일측성 분포 보였으며, 31명(64.6%)이 양측성 분포를 보였다. 1명(2.1%)의 환자는 흉막하 분포를 보였고, 9명(18.8%)은 기관지 혈관 주위 분포를 보였으며, 38명(79.2%)은 흉막하 및 기관지 혈관 주위 분포를 보였다. 22명(45.8%)의 환자는 경화 없는 순수 간유리 음영 병변을 보였고, 17명(35.4%)은 간유리 음영이 우세한 혼합 밀도의 병변을 보였고, 9명(18.8%)은 경화가 우세한 혼합 밀도의 병변을 보였다. 간유리 음영 없는 경화 병변을 보인 환자는 없었다.경증의 임상 소견을 보이는 COVID-19 환자의 가장 흔한 CT 소견은 흉막 하 및 기관지 혈관 주위 분포를 보이는 양측성 다발성 간유리 음영 우세 병변이었다. 경증의 임상 소견을 보이는 COVID-19 환자의 거의 절반의 초기 흉부 CT상 폐 실질 병변을 보이지 않았다. 경증의 COVID-19는 상대적으로 중증의 COVID-19과 비교하여 일측성 병변의 비율이 높고, 순수 간 유리 음영이나 간유리 음영 우세 병변의 비율이 높으며, 공기기관지 음영의 비율은 낮다.

Myelodysplastic syndromes (MDS) with basophilia or eosinophilia are very rare and portend poor prognoses. We present a rare patient who had MDS with excess blasts as well as peripheral basophilia and concurrent bone marrow (BM) basophilia/eosinophilia. She had a complex karyotype including 5q and 7q deletions; however, no oncogenic mutations were observed on next-generation sequencing of 54 genes known to be frequently mutated in acute myeloid leukemia/MDS. Peripheral basophilia resolved after decitabine treatment. Ours is the first report to describe a genome-wide analysis and the use of decitabine to successfully treat basophilia in an MDS patient with concurrent BM basophilia/eosinophilia.

Quantitative opacity mass and three-dimensional opacity volume on CT were quantifiable metrics affecting the visibility of COVID-19–related opacities on chest radiographs.

Two commonly used treatment planning systems (TPS) are compared for the planning of spine stereotactic body radiotherapy (SBRT). The main purpose is to highlight relative advantages and disadvantages of each system and propose a methodologic approach for comparisons. Twenty clinical plans were inversely planned with step-and-shoot intensity-modulated radiotherapy (IMRT) each using 9 to 11 beams, referred to as IMRT_P. The prescription dose was 24 Gy in 2 fractions, and the plans were generated following our institutional protocol using the Pinnacle3 v9.2. Each case was replanned using a 2-arc volumetric modulated arc therapy (VMAT) approach, referred as VMAT_P. CT and structure sets were DICOM exported to Monaco v5.10 and planned in 2 different ways: IMRT (IMRT_M) and VMAT (VMAT_M) using the same prescription dose. Dose volume histograms (DVH) and other dose statistics of planning target volumes (PTV) and organ-at-risk (OAR) were analyzed and compared between plans. The gradient index (GI = ratio of 50% isodose volume to prescribed isodose volume) was used to measure dose fall-off outside of the PTV. Another metric – Gradient Index Inner (GIinner = the rate (in Gy/mm) – at which the dose changes from the level of the spinal cord/thecal sac toward the prescription dose) was developed and compared. All plans were considered clinically acceptable by institutional guidelines and achieved all of the OAR dose constraints. VMAT_M and IMRT_M showed comparable dose statistics for the PTV when compared to VMAT_P and IMRT_P, respectively. For IMRT plans, the median GIinner was 1.88 Gy/mm vs 1.52 Gy/mm for IMRT_M and IMRT_P respectively (p

Urinary N-acetyl-β-D-glucosaminidase (NAG) is an early marker for kidney injury. To explore the utility of urinary NAG in assessing kidney damage associated with metabolic syndrome (MetS), we investigated associations between urinary NAG levels and MetS factors. The study included 95 healthy controls, 51 hypertension (HTN) outpatients, 96 with type 2 diabetes mellitus (DM), and 80 with comorbidity of HTN and DM. We measured the NAG/creatinine (Cr), albumin/Cr, and protein/Cr ratios in urine, and collected data for MetS factors from the medical records. The urinary NAG/Cr ratio showed a significant increase in the HTN and DM groups than in the control (3.8, 3.6, and 2.8 IU/g·Cr, respectively). The urinary NAG/Cr ratio was significantly higher in normoalbuminuric DM patients (3.8 IU/g·Cr) than in the control (2.8 IU/g·Cr). Among MetS factors, high blood pressure, high fasting blood glucose, and low HDL-cholesterol were associated with high urinary NAG/Cr ratio in study subjects. Moreover, the subjects with 3 or 4 factors exhibited a higher urinary NAG/Cr ratio than those with less than 3 factors (7.4 vs. 3.3 IU/g·Cr). These results suggest that the urinary NAG/Cr ratio is a sensitive indicator for early injury of the kidney in association with MetS including DM.

Reliable biomarkers are required to evaluate and manage pancreatic ductal adenocarcinoma. Circulating tumor cells and circulating tumor DNA are shed into blood and can be relatively easily obtained from minimally invasive liquid biopsies for serial assays and characterization, thereby providing a unique potential for early diagnosis, forecasting disease prognosis, and monitoring of therapeutic response. In this review, we provide an overview of current technologies used to detect circulating tumor cells and circulating tumor DNA and describe recent advances regarding the multiple clinical applications of liquid biopsy in pancreatic ductal adenocarcinoma.

We used a data set of 2115 patients with breast cancer from the nationwide multicentre prospective Korean Hereditary Breast Cancer study. In total, 83We were able to redefine 38 VUSs (The classification in this study would minimise the 'uncertainty' in clinical interpretation, and this validated multifactorial model can be used for the reliable annotation of

Background The use of laboratory reference intervals based on younger populations is of questionable validity in older populations. We established reference intervals for 16 complete blood count (CBC) parameters in healthy elderly Koreans aged ≥60 years and compared them to those of individuals aged 20–59 years. Methods Among 64,532 individuals (39,609 men and 24,923 women) aged ≥20 years who underwent medical checkups, 8151 healthy subjects (12.6%, 5270 men and 2881 women, including 675 and 511, respectively, who were ≥60 years of age) were enrolled based on stringent criteria including laboratory, imaging and endoscopy results; previous medical history; and medication history. CBC parameters were measured using an Advia2120i instrument. Results Overall, healthy individuals aged ≥60 years did not require separate reference intervals from those aged Conclusions Healthy elderly Koreans can use the same reference intervals as younger populations. Thus, abnormal CBC results may not necessarily be attributable to physiologic changes but possible underlying diseases that should be investigated.

Background Methicillin-resistant Staphylococcus aureus (MRSA) bacteremia with a vancomycin minimum inhibitory concentration (MIC) of 2 µg/mL presents a high rate of therapeutic failure in response to vancomycin. In addition, polymorphism in accessory gene regulator (agr) is associated with vancomycin therapeutic effects. The association between agr polymorphism and vancomycin MICs was investigated in MRSA isolates. Methods Agr group-specific PCR was conducted on 118 MRSA bloodstream isolates. Vancomycin susceptibility tests were conducted, while E-test GRD (bioMérieux SA, France) was used to detect heterogeneous vancomycin-intermediate S. aureus (hVISA). Results Of the 118 MRSA isolates, 59 (50.0%), 43 (36.4%), and 10 (8.5%) isolates belonged to agr group I, II, and III, respectively. Six isolates could not be classified. Twenty-six, 73, and 19 isolates presented a vancomycin MIC of 2, 1, and 0.5 µg/mL, respectively. Nine (34.6%), 14 (53.8%), and 2 (7.7%) isolates with MICs of 2 µg/mL belonged to agr group I, II, and III, respectively. Thirty-seven (50.6%), 26 (35.6%), and 6 (8.2%) isolates with MICs of 1 µg/mL belonged to agr group I, II, and III, respectively. Thirteen (68.4%), 3 (15.8%), and 2 (10.5%) isolates with MICs of 0.5 µg/mL belonged to agr group I, II, and III, respectively. The agr group II presented more isolates with MIC of 2 µg/mL (32.6%) than the agr non-group II (16%). Four isolates tested positive for hVISA. Three of them belonged to agr group II. Conclusions MRSA isolates with vancomycin MIC of 2 µg/mL were more common in agr group II than in agr non-group II.

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone

It is known that CD3 and CD20 are homogenously expressed in T lineage and B lineage lymphoma, respectively; however, there are no standard guidelines to interpret immunohistochemistry findings. In this study, we investigated CD3 and CD20 immunohistochemical staining patterns of bone marrow (BM)-infiltrating lymphoma cells.Among 297 patients diagnosed with malignant lymphoma, the BM biopsy slides of all 39 cases found to have BM infiltration (T lineage: 11; B lineage: 28) were reviewed. We specifically investigated the immunohistochemical staining patterns of CD3 and CD20.All 11 T lineage lymphoma cases showed homogenous immunohistochemical staining patterns. In the 28 B lineage lymphoma cases, 15 (53.6%) showed a homogenous pattern while 13 (46.4%) showed a heterogeneous pattern. Ten cases in the latter group showed additional evidence of BM infiltration by lymphoma cells in separate laboratory analyses or imaging studies. There were no differences in overall or progression-free survival rates in patients exhibiting homogeneous vs. heterogeneous staining patterns (A considerable number of B lineage cases showed heterogeneous patterns with evidence of BM infiltration. Thus, heterogeneous immunohistochemical staining patterns (particularly in B lineage lymphomas) may signify malignant lymphoma cell infiltration into the BM.

OBJECTIVE: This study presents a preliminary report on the chest radiographic and computed tomography (CT) findings of the 2019 novel coronavirus disease (COVID-19) pneumonia in Korea. MATERIALS AND METHODS: As part of a multi-institutional collaboration coordinated by the Korean Society of Thoracic Radiology, we collected nine patients with COVID-19 infections who had undergone chest radiography and CT scans. We analyzed the radiographic and CT findings of COVID-19 pneumonia at baseline. Fisher's exact test was used to compare CT findings depending on the shape of pulmonary lesions. RESULTS: Three of the nine patients (33.3%) had parenchymal abnormalities detected by chest radiography, and most of the abnormalities were peripheral consolidations. Chest CT images showed bilateral involvement in eight of the nine patients, and a unilobar reversed halo sign in the other patient. In total, 77 pulmonary lesions were found, including patchy lesions (39%), large confluent lesions (13%), and small nodular lesions (48%). The peripheral and posterior lung fields were involved in 78% and 67% of the lesions, respectively. The lesions were typically ill-defined and were composed of mixed ground-glass opacities and consolidation or pure ground-glass opacities. Patchy to confluent lesions were primarily distributed in the lower lobes (p = 0.040) and along the pleura (p < 0.001), whereas nodular lesions were primarily distributed along the bronchovascular bundles (p = 0.006). CONCLUSION: COVID-19 pneumonia in Korea primarily manifested as pure to mixed ground-glass opacities with a patchy to confluent or nodular shape in the bilateral peripheral posterior lungs. A considerable proportion of patients with COVID-19 pneumonia had normal chest radiographs.