Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment.

Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients' values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.

Central Role of CT in Management of Pulmonary Fibrosis.

With the approval of antifibrotic medications to treat patients with idiopathic pulmonary fibrosis and progressive pulmonary fibrosis, radiologists have an integral role in diagnosing these entities and guiding treatment decisions. CT features of early pulmonary fibrosis include irregular thickening of interlobular septa, pleura, and intralobular linear structures, with subsequent progression to reticular abnormality, traction bronchiectasis or bronchiolectasis, and honeycombing. CT patterns of fibrotic lung disease can often be reliably classified on the basis of the CT features and distribution of the condition. Accurate identification of usual interstitial pneumonia (UIP) or probable UIP patterns by radiologists can obviate the need for a tissue sample-based diagnosis. Other entities that can appear as a UIP pattern must be excluded in multidisciplinary discussion before a diagnosis of idiopathic pulmonary fibrosis is made. Although the imaging findings of nonspecific interstitial pneumonia and fibrotic hypersensitivity pneumonitis can overlap with those of a radiologic UIP pattern, these entities can often be distinguished by paying careful attention to the radiologic signs. Diagnostic challenges may include misdiagnosis of fibrotic lung disease due to pitfalls such as airspace enlargement with fibrosis, paraseptal emphysema, recurrent aspiration, and postinfectious fibrosis. The radiologist also plays an important role in identifying complications of pulmonary fibrosis-pulmonary hypertension, acute exacerbation, infection, and lung cancer in particular. In cases in which there is uncertainty regarding the clinical and radiologic diagnoses, surgical biopsy is recommended, and a multidisciplinary discussion among clinicians, radiologists, and pathologists can be used to address diagnosis and management strategies. This review is intended to help radiologists diagnose and manage pulmonary fibrosis more accurately, ultimately aiding in the clinical management of affected patients. ©RSNA, 2024 Supplemental material is available for this article.

Measurement Variability of Same-Day CT Quantification of Interstitial Lung Disease: A Multicenter Prospective Study.

Purpose To investigate quantitative CT (QCT) measurement variability in interstitial lung disease (ILD) on the basis of two same-day CT scans. Materials and Methods Participants with ILD were enrolled in this multicenter prospective study between March and October 2022. Participants underwent two same-day CT scans at an interval of a few minutes. Deep learning-based texture analysis software was used to segment ILD features. Fibrosis extent was defined as the sum of reticular opacity and honeycombing cysts. Measurement variability between scans was assessed with Bland-Altman analyses for absolute and relative differences with 95% limits of agreement (LOA). The contribution of fibrosis extent to variability was analyzed using a multivariable linear mixed-effects model while adjusting for lung volume. Eight readers assessed ILD fibrosis stability with and without QCT information for 30 randomly selected samples. Results Sixty-five participants were enrolled in this study (mean age, 68.7 years ± 10 [SD]; 47 [72%] men, 18 [28%] women). Between two same-day CT scans, the 95% LOA for the mean absolute and relative differences of quantitative fibrosis extent were -0.9% to 1.0% and -14.8% to 16.1%, respectively. However, these variabilities increased to 95% LOA of -11.3% to 3.9% and -123.1% to 18.4% between CT scans with different reconstruction parameters. Multivariable analysis showed that absolute differences were not associated with the baseline extent of fibrosis (P = .09), but the relative differences were negatively associated (ß = -0.252, P < .001). The QCT results increased readers' specificity in interpreting ILD fibrosis stability (91.7% vs 94.6%, P = .02). Conclusion The absolute QCT measurement variability of fibrosis extent in ILD was 1% in same-day CT scans. Keywords: CT, CT-Quantitative, Thorax, Lung, Lung Diseases, Interstitial, Pulmonary Fibrosis, Diagnosis, Computer Assisted, Diagnostic Imaging Supplemental material is available for this article. © RSNA, 2024.

Human-airway surface mesh smoothing based on graph convolutional neural networks.

BACKGROUND AND OBJECTIVE: A detailed representation of the airway geometry in the respiratory system is critical for predicting precise airflow and pressure behaviors in computed tomography (CT)-image-based computational fluid dynamics (CFD). The CT-image-based geometry often contains artifacts, noise, and discontinuities due to the so-called stair step effect. Hence, an advanced surface smoothing is necessary. The existing smoothing methods based on the Laplacian operator drastically shrink airway geometries, resulting in the loss of information related to smaller branches. This study aims to introduce an unsupervised airway-mesh-smoothing learning (AMSL) method that preserves the original geometry of the three-dimensional (3D) airway for accurate CT-image-based CFD simulations. METHOD: The AMSL method jointly trains two graph convolutional neural networks (GCNNs) defined on airway meshes to filter vertex positions and face normal vectors. In addition, it regularizes a combination of loss functions such as reproducibility, smoothness and consistency of vertex positions, and normal vectors. The AMSL adopts the concept of a deep mesh prior model, and it determines the self-similarity for mesh restoration without using a large dataset for training. Images of the airways of 20 subjects were smoothed by the AMSL method, and among them, the data of two subjects were used for the CFD simulations to assess the effect of airway smoothing on flow properties. RESULTS: In 18 of 20 benchmark problems, the proposed smoothing method delivered better results compared with the conventional or state-of-the-art deep learning methods. Unlike the traditional smoothing, the AMSL successfully constructed 20 smoothed airways with airway diameters that were consistent with the original CT images. Besides, CFD simulations with the airways obtained by the AMSL method showed much smaller pressure drop and wall shear stress than the results obtained by the traditional method. CONCLUSIONS: The airway model constructed by the AMSL method reproduces branch diameters accurately without any shrinkage, especially in the case of smaller airways. The accurate estimation of airway geometry using a smoothing method is critical for estimating flow properties in CFD simulations.

Deep Learning Classification of Usual Interstitial Pneumonia Predicts Outcomes.

Rationale: Computed tomography (CT) enables noninvasive diagnosis of usual interstitial pneumonia (UIP), but enhanced image analyses are needed to overcome the limitations of visual assessment. Objectives: Apply multiple instance learning (MIL) to develop an explainable deep learning algorithm for prediction of UIP from CT and validate its performance in independent cohorts. Methods: We trained an MIL algorithm using a pooled dataset (n = 2,143) and tested it in three independent populations: data from a prior publication (n = 127), a single-institution clinical cohort (n = 239), and a national registry of patients with pulmonary fibrosis (n = 979). We tested UIP classification performance using receiver operating characteristic analysis, with histologic UIP as ground truth. Cox proportional hazards and linear mixed-effects models were used to examine associations between MIL predictions and survival or longitudinal FVC. Measurements and Main Results: In two cohorts with biopsy data, MIL improved accuracy for histologic UIP (area under the curve, 0.77 [n = 127] and 0.79 [n = 239]) compared with visual assessment (area under the curve, 0.65 and 0.71). In cohorts with survival data, MIL-UIP classifications were significant for mortality (n = 239, mortality to April 2021: unadjusted hazard ratio, 3.1; 95% confidence interval [CI], 1.96-4.91; P < 0.001; and n = 979, mortality to July 2022: unadjusted hazard ratio, 3.64; 95% CI, 2.66-4.97; P < 0.001). Individuals classified as UIP positive by the algorithm had a significantly greater annual decline in FVC than those classified as UIP negative (-88 ml/yr vs. -45 ml/yr; n = 979; P < 0.01), adjusting for extent of lung fibrosis. Conclusions: Computerized assessment using MIL identifies clinically significant features of UIP on CT. Such a method could improve confidence in radiologic assessment of patients with interstitial lung disease, potentially enabling earlier and more precise diagnosis.

Structural and functional features of asthma participants with fixed airway obstruction using CT imaging and 1D computational fluid dynamics: A feasibility study.

Asthma with fixed airway obstruction (FAO) is associated with significant morbidity and rapid decline in lung function, making its treatment challenging. Quantitative computed tomography (QCT) along with data postprocessing is a useful tool to obtain detailed information on airway structure, parenchymal function, and computational flow features. In this study, we aim to identify the structural and functional differences between asthma with and without FAO. The FAO group was defined by a ratio of forced expiratory volume in 1 s (FEV1 ) to forced vital capacity (FVC), FEV1 /FVC <0.7. Accordingly, we obtained two sets of QCT images at inspiration and expiration of asthma subjects without (N = 24) and with FAO (N = 12). Structural and functional QCT-derived airway variables were extracted, including normalized hydraulic diameter, normalized airway wall thickness, functional small airway disease, and emphysema percentage. A one-dimensional (1D) computational fluid dynamics (CFD) model considering airway deformation was used to compare the pressure distribution between the two groups. The computational pressures showed strong correlations with the pulmonary function test (PFT)-based metrics. In conclusion, asthma participants with FAO had worse lung functions and higher-pressure drops than those without FAO.

Chronic Lung Injury after COVID-19 Pneumonia: Clinical, Radiologic, and Histopathologic Perspectives.

With the COVID-19 pandemic having lasted more than 3 years, concerns are growing about prolonged symptoms and respiratory complications in COVID-19 survivors, collectively termed post-COVID-19 condition (PCC). Up to 50% of patients have residual symptoms and physiologic impairment, particularly dyspnea and reduced diffusion capacity. Studies have also shown that 24%-54% of patients hospitalized during the 1st year of the pandemic exhibit radiologic abnormalities, such as ground-glass opacity, reticular opacity, bronchial dilatation, and air trapping, when imaged more than 1 year after infection. In patients with persistent respiratory symptoms but normal results at chest CT, dual-energy contrast-enhanced CT, xenon 129 MRI, and low-field-strength MRI were reported to show abnormal ventilation and/or perfusion, suggesting that some lung injury may not be detectable with standard CT. Histologic patterns in post-COVID-19 lung disease include fibrosis, organizing pneumonia, and vascular abnormality, indicating that different pathologic mechanisms may contribute to PCC. Therefore, a comprehensive imaging approach is necessary to evaluate and diagnose patients with persistent post-COVID-19 symptoms. This review will focus on the long-term findings of clinical and radiologic abnormalities and describe histopathologic perspectives. It also addresses advanced imaging techniques and deep learning approaches that can be applied to COVID-19 survivors. This field remains an active area of research, and further follow-up studies are warranted for a better understanding of the chronic stage of the disease and developing a multidisciplinary approach for patient management.

Giant Fibrovascular Polyp Mimicking Esophageal Malignancy on 18 F-FDG PET/CT.

ABSTRACT: A 52-year-old man presented with continuous dull pain from the throat to the epigastric region with dysphagia. Initial endoscopy misdiagnosed a subepithelial tumor causing external compression of the esophagus. A CT scan visualized a 14.0 × 4.0-cm pedunculated mass inside the esophagus. Subsequent 18 F-FDG PET/CT identified an intense FDG-avid area in the mass, which strongly suggested esophageal cancer. Total mass excision was performed, and fibrovascular polyp with chronic ulcerative inflammation was finally confirmed on histologic examination.

External validation of deep learning-based automated detection algorithm for chest radiograph: practical issues in outpatient clinic.

BACKGROUND: There have been no reports on diagnostic performance of deep learning-based automated detection (DLAD) for thoracic diseases in real-world outpatient clinic. PURPOSE: To validate DLAD for use at an outpatient clinic and analyze the interpretation time for chest radiographs. MATERIAL AND METHODS: This is a retrospective single-center study. From 18 January 2021 to 18 February 2021, 205 chest radiographs with DLAD and paired chest CT from 205 individuals (107 men and 98 women; mean ± SD age: 63 ± 8 years) from an outpatient clinic were analyzed for external validation and observer performance. Two radiologists independently reviewed the chest radiographs by referring to the paired chest CT and made reference standards. Two pulmonologists and two thoracic radiologists participated in observer performance tests, and the total amount of time taken during the test was measured. RESULTS: The performance of DLAD (area under the receiver operating characteristic curve [AUC] = 0.920) was significantly higher than that of pulmonologists (AUC = 0.756) and radiologists (AUC = 0.782) without assistance of DLAD. With help of DLAD, the AUCs were significantly higher for both groups (pulmonologists AUC = 0.853; radiologists AUC = 0.854). A greater than 50% decrease in mean interpretation time was observed in the pulmonologist group with assistance of DLAD compared to mean reading time without aid of DLAD (from 67 s per case to 30 s per case). No significant difference was observed in the radiologist group (from 61 s per case to 61 s per case). CONCLUSION: DLAD demonstrated good performance in interpreting chest radiographs of patients at an outpatient clinic, and was especially helpful for pulmonologists in improving performance.

Quantitative CT Analysis Based on Smoking Habits and Chronic Obstructive Pulmonary Disease in Patients with Normal Chest CT.

Purpose: To assess normal CT scans with quantitative CT (QCT) analysis based on smoking habits and chronic obstructive pulmonary disease (COPD). Materials and Methods: From January 2013 to December 2014, 90 male patients with normal chest CT and quantification analysis results were enrolled in our study [non-COPD never-smokers (n = 38) and smokers (n = 45), COPD smokers (n = 7)]. In addition, an age-matched cohort study was performed for seven smokers with COPD. The square root of the wall area of a hypothetical bronchus of internal perimeter 10 mm (Pi10), skewness, kurtosis, mean lung attenuation (MLA), and percentage of low attenuation area (%LAA) were evaluated. Results: Among patients without COPD, the Pi10 of smokers (4.176 ± 0.282) was about 0.1 mm thicker than that of never-smokers (4.070 ± 0.191, p = 0.047), and skewness and kurtosis of smokers (2.628 ± 0.484 and 6.448 ± 3.427) were lower than never-smokers (2.884 ± 0.624, p = 0.038 and 8.594 ± 4.944, p = 0.02). The Pi10 of COPD smokers (4.429 ± 0.435, n = 7) was about 0.4 mm thicker than never-smokers without COPD (3.996 ± 0.115, n = 14, p = 0.005). There were no significant differences in MLA and %LAA between groups (p > 0.05). Conclusion: Even on normal CT scans, QCT showed that the airway walls of smokers are thicker than never-smokers regardless of COPD and it preceded lung parenchymal changes.

Correction: Deep Learning With Chest Radiographs for Making Prognoses in Patients With COVID-19: Retrospective Cohort Study.

[This corrects the article DOI: 10.2196/42717.].

Erratum: Correction of Affiliations in the Article "Establishment of a Nationwide Korean Imaging Cohort of Coronavirus Disease 2019".

This corrects the article on p. e413 in vol. 35, PMID: 33258333.

Interstitial Lung Abnormalities at CT in the Korean National Lung Cancer Screening Program: Prevalence and Deep Learning-based Texture Analysis.

Background Interstitial lung abnormalities (ILAs) are associated with worse clinical outcomes, but ILA with lung cancer screening CT has not been quantitatively assessed. Purpose To determine the prevalence of ILA at CT examinations from the Korean National Lung Cancer Screening Program and define an optimal lung area threshold for ILA detection with CT with use of deep learning-based texture analysis. Materials and Methods This retrospective study included participants who underwent chest CT between April 2017 and December 2020 at two medical centers participating in the Korean National Lung Cancer Screening Program. CT findings were classified by three radiologists into three groups: no ILA, equivocal ILA, and ILA (fibrotic and nonfibrotic). Progression was evaluated between baseline and last follow-up CT scan. The extent of ILA was assessed visually and quantitatively with use of deep learning-based texture analysis. The Youden index was used to determine an optimal cutoff value for detecting ILA with use of texture analysis. Demographics and ILA subcategories were compared between participants with progressive and nonprogressive ILA. Results A total of 3118 participants were included in this study, and ILAs were observed with the CT scans of 120 individuals (4%). The median extent of ILA calculated by the quantitative system was 5.8% for the ILA group, 0.7% for the equivocal ILA group, and 0.1% for the no ILA group (P < .001). A 1.8% area threshold in a lung zone for quantitative detection of ILA showed 100% sensitivity and 99% specificity. Progression was observed in 48% of visually assessed fibrotic ILAs (15 of 31), and quantitative extent of ILA increased by 3.1% in subjects with progression. Conclusion ILAs were detected in 4% of the Korean lung cancer screening population. Deep learning-based texture analysis showed high sensitivity and specificity for detecting ILA with use of a 1.8% lung area cutoff value. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Egashira and Nishino in this issue.

Deep Learning With Chest Radiographs for Making Prognoses in Patients With COVID-19: Retrospective Cohort Study.

BACKGROUND: An artificial intelligence (AI) model using chest radiography (CXR) may provide good performance in making prognoses for COVID-19. OBJECTIVE: We aimed to develop and validate a prediction model using CXR based on an AI model and clinical variables to predict clinical outcomes in patients with COVID-19. METHODS: This retrospective longitudinal study included patients hospitalized for COVID-19 at multiple COVID-19 medical centers between February 2020 and October 2020. Patients at Boramae Medical Center were randomly classified into training, validation, and internal testing sets (at a ratio of 8:1:1, respectively). An AI model using initial CXR images as input, a logistic regression model using clinical information, and a combined model using the output of the AI model (as CXR score) and clinical information were developed and trained to predict hospital length of stay (LOS) ≤2 weeks, need for oxygen supplementation, and acute respiratory distress syndrome (ARDS). The models were externally validated in the Korean Imaging Cohort of COVID-19 data set for discrimination and calibration. RESULTS: The AI model using CXR and the logistic regression model using clinical variables were suboptimal to predict hospital LOS ≤2 weeks or the need for oxygen supplementation but performed acceptably in the prediction of ARDS (AI model area under the curve [AUC] 0.782, 95% CI 0.720-0.845; logistic regression model AUC 0.878, 95% CI 0.838-0.919). The combined model performed better in predicting the need for oxygen supplementation (AUC 0.704, 95% CI 0.646-0.762) and ARDS (AUC 0.890, 95% CI 0.853-0.928) compared to the CXR score alone. Both the AI and combined models showed good calibration for predicting ARDS (P=.079 and P=.859). CONCLUSIONS: The combined prediction model, comprising the CXR score and clinical information, was externally validated as having acceptable performance in predicting severe illness and excellent performance in predicting ARDS in patients with COVID-19.

An unsupervised image registration method employing chest computed tomography images and deep neural networks.

BACKGROUND: Deformable image registration is crucial for multiple radiation therapy applications. Fast registration of computed tomography (CT) lung images is challenging because of the large and nonlinear deformation between inspiration and expiration. With advancements in deep learning techniques, learning-based registration methods are considered efficient alternatives to traditional methods in terms of accuracy and computational cost. METHOD: In this study, an unsupervised lung registration network (LRN) with cycle-consistent training is proposed to align two acquired CT-derived lung datasets during breath-holds at inspiratory and expiratory levels without utilizing any ground-truth registration results. Generally, the LRN model uses three loss functions: image similarity, regularization, and Jacobian determinant. Here, LRN was trained on the CT datasets of 705 subjects and tested using 10 pairs of public CT DIR-Lab datasets. Furthermore, to evaluate the effectiveness of the registration technique, target registration errors (TREs) of the LRN model were compared with those of the conventional algorithm (sum of squared tissue volume difference; SSTVD) and a state-of-the-art unsupervised registration method (VoxelMorph). RESULTS: The results showed that the LRN with an average TRE of 1.78 ± 1.56 mm outperformed VoxelMorph with an average TRE of 2.43 ± 2.43 mm, which is comparable to that of SSTVD with an average TRE of 1.66 ± 1.49 mm. In addition, estimating the displacement vector field without any folding voxel consumed less than 2 s, demonstrating the superiority of the learning-based method with respect to fiducial marker tracking and the overall soft tissue alignment with a nearly real-time speed. CONCLUSIONS: Therefore, this proposed method shows significant potential for use in time-sensitive pulmonary studies, such as lung motion tracking and image-guided surgery.

Prevalence and Long-term Outcomes of CT Interstitial Lung Abnormalities in a Health Screening Cohort.

Background The association between interstitial lung abnormalities (ILAs) and long-term outcomes has not been reported in Asian health screening populations. Purpose To investigate ILA prevalence in an Asian health screening cohort and determine rates and risks for ILA progression, lung cancer development, and mortality within the 10-year follow-up. Materials and Methods This observational, retrospective multicenter study included patients aged 50 years or older who underwent chest CT at three health screening centers over a 4-year period (2007-2010). ILA status was classified as none, equivocal ILA, and ILA (nonfibrotic or fibrotic). Progression was evaluated from baseline to the last follow-up CT examination, when available. The log-rank test was performed to compare mortality rates over time between ILA statuses. Multivariable Cox proportional hazards models were used to assess factors associated with hazards of ILA progression, lung cancer development, and mortality. Results Of the 2765 included patients (mean age, 59 years ± 7 [SD]; 2068 men), 94 (3%) had a finding of ILA (35 nonfibrotic and 59 fibrotic ILA) and 119 (4%) had equivocal ILA. The median time for CT follow-up and the entire observation was 8 and 12 years, respectively. ILA progression was observed in 80% (48 of 60) of patients with ILA over 8 years. Those with fibrotic and nonfibrotic ILA had a higher mortality rate than those without ILA (P < .001 and P = .01, respectively) over 12 years. Fibrotic ILA was independently associated with ILA progression (hazard ratio [HR], 10.3; 95% CI: 6.4, 16.4; P < .001), lung cancer development (HR, 4.4; 95% CI: 2.1, 9.1; P < .001), disease-specific mortality (HR, 6.7; 95% CI: 3.7, 12.2; P < .001), and all-cause mortality (HR, 2.5; 95% CI: 1.6, 3.8; P < .001) compared with no ILA. Conclusion The prevalence of interstitial lung abnormalities (ILAs) in an Asian health screening cohort was approximately 3%, and fibrotic ILA was an independent risk factor for ILA progression, lung cancer development, and mortality. © RSNA, 2022 Online supplemental material is available for this article. See also the editorial by Hatabu and Hata in this issue.

A Radiomics Approach on Chest CT Distinguishes Primary Lung Cancer from Solitary Lung Metastasis in Colorectal Cancer Patients.

PURPOSE: This study utilized a radiomics approach combined with a machine learning algorithm to distinguish primary lung cancer (LC) from solitary lung metastasis (LM) in colorectal cancer (CRC) patients with a solitary pulmonary nodule (SPN). MATERIALS AND METHODS: In a retrospective study, 239 patients who underwent chest computerized tomography (CT) at three different institutions between 2011 and 2019 and were diagnosed as primary LC or solitary LM were included. The data from the first institution were divided into training and internal testing datasets. The data from the second and third institutions were used as an external testing dataset. Radiomic features were extracted from the intra and perinodular regions of interest (ROI). After a feature selection process, Support vector machine (SVM) was used to train models for classifying between LC and LM. The performances of the SVM classifiers were evaluated with both the internal and external testing datasets. The performances of the model were compared to those of two radiologists who reviewed the CT images of the testing datasets for the binary prediction of LC versus LM. RESULTS: The SVM classifier trained with the radiomic features from the intranodular ROI and achieved the sensitivity/specificity of 0.545/0.828 in the internal test dataset, and 0.833/0.964 in the external test dataset, respectively. The SVM classifier trained with the combined radiomic features from the intra- and perinodular ROIs achieved the sensitivity/specificity of 0.545/0.966 in the internal test dataset, and 0.833/1.000 in the external test data set, respectively. Two radiologists demonstrated the sensitivity/specificity of 0.545/0.966 and 0.636/0.828 in the internal test dataset, and 0.917/0.929 and 0.833/0.929 in the external test dataset, which were comparable to the performance of the model trained with the combined radiomics features. CONCLUSION: Our results suggested that the machine learning classifiers trained using radiomics features of SPN in CRC patients can be used to distinguish the primary LC and the solitary LM with a similar level of performance to radiologists.

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation.

Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF). Here, we report the first case of familial schwannomatosis with regard to the segmental/generalized phenotype, in which the proband and the daughter present a distinct phenotype in this classification. The proband presents a generalized, painless, extradural type of schwannomatosis, while the daughter shows a segmental, painful, intradural type of schwannomatosis. Whole-exome sequencing of the affected individuals revealed a shared novel SMARCB1 gene mutation (c.92A > G, p.Glu31Gly) despite the clinical variability. We thus suggest two points in the diagnosis of familial schwannomatosis: The identified novel germline SMARCB1 variant can be reflective of a phenotypical progression from a segmental to a generalized type of schwannomatosis, or an intrafamilial variability in inherited schwannomatosis, which was not reported in previous literature. The specific combination of somatic NF2 mutations may be a major factor in regulating the severity and scope of the resulting phenotype in schwannomatosis.

Characterizing Subjects Exposed to Humidifier Disinfectants Using Computed-Tomography-Based Latent Traits: A Deep Learning Approach.

Around nine million people have been exposed to toxic humidifier disinfectants (HDs) in Korea. HD exposure may lead to HD-associated lung injuries (HDLI). However, many people who have claimed that they experienced HD exposure were not diagnosed with HDLI but still felt discomfort, possibly due to the unknown effects of HD. Therefore, this study examined HD-exposed subjects with normal-appearing lungs, as well as unexposed subjects, in clusters (subgroups) with distinct characteristics, classified by deep-learning-derived computed-tomography (CT)-based tissue pattern latent traits. Among the major clusters, cluster 0 (C0) and cluster 5 (C5) were dominated by HD-exposed and unexposed subjects, respectively. C0 was characterized by features attributable to lung inflammation or fibrosis in contrast with C5. The computational fluid and particle dynamics (CFPD) analysis suggested that the smaller airway sizes observed in the C0 subjects led to greater airway resistance and particle deposition in the airways. Accordingly, women appeared more vulnerable to HD-associated lung abnormalities than men.