Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

Background: Because the etiologies of bronchiectasis and related diseases vary significantly among different regions and ethnicities, this study aimed to develop a diagnostic bundle for bronchiectasis in South Korea. Methods: A modified Delphi method was used to develop expert consensus statements on a diagnostic bundle for bronchiectasis in South Korea. Initial statements proposed by a core panel, based on international bronchiectasis guidelines, were discussed in an online meeting and two email surveys by a panel of experts (≥70% agreement). Results: The study involved 21 expert participants, and 30 statements regarding a diagnostic bundle for bronchiectasis were classified as recommended, conditional, or not recommended. The consensus statements of the expert panel were as follows: A standardized diagnostic bundle is useful in clinical practice; diagnostic tests for specific diseases, including immunodeficiency and allergic bronchopulmonary aspergillosis, are necessary when clinically suspected; initial diagnostic tests, including sputum microbiology and spirometry, are essential in all patients with bronchiectasis, and patients suspected with rare causes such as primary ciliary dyskinesia should be referred to specialized centers. Conclusion Based on this Delphi survey, expert consensus statements were generated including specific diagnostic, laboratory, microbiological, and pulmonary function tests required to manage patients with bronchiectasis in South Korea.

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

PURPOSE: Although mild to moderate asthma is much more common, the morbidity and mortality of severe asthma are much higher. This study was performed to identify and analyze the clinical characteristics of severe asthma in Korea. METHODS: We registered patients with severe refractory asthma into the Severe Asthma Registry supported by the Severe Asthma Work Group of the Korean Academy of Asthma, Allergy and Clinical Immunology. Patients were enrolled since 2010 from the 15 university hospitals nationwide in Korea. Severe asthma was defined according to modified European Respiratory Society/American Thoracic Society criteria. Information on demographics, medical history, pulmonary function tests and skin prick tests was collected; the clinical characteristics of severe asthmatics were analyzed from the collected data. RESULTS: A total of 489 patients were enrolled with a mean age of 62.3; 45% are male. Sixty percent of patients received Global Initiative for Asthma step 4 treatment, and 30% received step 5 treatment. The most common comorbidities were allergic rhinitis (58.7%). Aspirin hypersensitivity was observed in 14.0%. Approximately half (53.9%) are non-smokers. Atopy was proven in 38.5% of the patients. Regarding asthma medications, inhaled corticosteroids and long-acting β-agonist combination inhalers were most commonly prescribed (96.5%), followed by leukotriene antagonists (71.0%). A recombinant anti-immunoglobulin E monoclonal antibody (omalizumab) has been used in 1.8% of the patients. The mean forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1) and FEV1/FVC were 78.7%, 67.5% and 67.9% of predicted values, respectively. The mean Asthma Control Test and quality of life questionnaire scores were 16.5 out of 25 and 59.5 out of 85, respectively. CONCLUSIONS: The baseline characteristics of severe asthma patients in the Korea Severe Asthma Registry were analyzed and reported for the first time. With this cohort, further prospective studies should be performed to search for ways to improve management of severe refractory asthma.
Adrenal Cortex Hormones ; Adult* ; Allergy and Immunology ; Aspirin ; Asthma* ; Cohort Studies ; Comorbidity ; Demography ; Forced Expiratory Volume ; Hospitals, University ; Humans ; Hypersensitivity ; Korea* ; Leukotriene Antagonists ; Male ; Mortality ; Nebulizers and Vaporizers ; Prospective Studies ; Quality of Life ; Respiratory Function Tests ; Rhinitis, Allergic ; Skin ; Vital Capacity

PURPOSE: The aim of this study was to evaluate the applicability of machine learning methods that combine data on age and prostate-specific antigen (PSA) levels for predicting prostate cancer. MATERIALS AND METHODS: We analyzed 943 patients who underwent transrectal ultrasonography (TRUS)-guided prostate biopsy at Chungnam National University Hospital between 2014 and 2018 because of elevated PSA levels and/or abnormal digital rectal examination and/or TRUS findings. We retrospectively reviewed the patients’ medical records, analyzed the prediction rate of prostate cancer, and identified 20 feature importances that could be compared with biopsy results using 5 different algorithms, viz., logistic regression (LR), support vector machine, random forest (RF), extreme gradient boosting, and light gradient boosting machine. RESULTS: Overall, the cancer detection rate was 41.8%. In patients younger than 75 years and with a PSA level less than 20 ng/mL, the best prediction model for prostate cancer detection was RF among the machine learning methods based on LR analysis. The PSA density was the highest scored feature importances in the same patient group. CONCLUSIONS: These results suggest that the prediction rate of prostate cancer using machine learning methods not inferior to that using LR and that these methods may increase the detection rate for prostate cancer and reduce unnecessary prostate biopsy, as they take into consideration feature importances affecting the prediction rate for prostate cancer.
Biopsy ; Chungcheongnam-do ; Digital Rectal Examination ; Forests ; Humans ; Logistic Models ; Machine Learning ; Medical Records ; Prostate ; Prostate-Specific Antigen ; Prostatic Neoplasms ; Retrospective Studies ; Support Vector Machine ; Ultrasonography

OBJECTIVES: This study aimed to identify the group with high risk of suicide in general hospital inpatient by comparing the depression, anxiety, and distress and their clinical characteristics. METHODS: The study included all patients admitted to a general hospital between January 2016 and December 2017, and the final 41,249 patients were analyzed. Distress thermometer (DT) and hospital anxiety-depression scale (HADS) were used for emotional state evaluation. Group with high risk of suicide was defined as showing more than 4 in the DT and more than 8 in one of the two subscales (anxiety and depression) of the HADS. RESULTS: Among the subjects, 3,603 patients (8.7%) met the high-risk criteria for suicide. The group with high risk of suicide experienced more severe pain than the control patient group, and it was found that there was more underlying disease. Patients who reported pain showed higher scores than those who reported no pain on the DT and HADS subscales. CONCLUSIONS: Group with high risk of suicide showed more severe pain and more underlying disease. Therefore, suicide prevention program specifically targeted for the group with high risk of suicide should be developed according to the risk of the patient evaluated at the time of the admission.
Anxiety ; Depression ; Hospitals, General ; Humans ; Inpatients ; Suicide ; Thermometers

PURPOSE: Severe asthma and asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) are difficult to control and are often associated with poor clinical outcomes. However, much is not understood regarding the diagnosis and treatment of severe asthma and ACOS. To evaluate the current perceptions of severe asthma and COPD among asthma and COPD specialists, we designed an e-mail and internet-based questionnaire survey. METHODS: Subjects were selected based on clinical specialty from among the members of the Korean Academy of Asthma, Allergy and Clinical Immunology and the Korean Academy of Tuberculosis and Respiratory Diseases. Of 432 subjects who received an e-mail invitation to the survey, 95 subjects, including 58 allergists and 37 pulmonologists, responded and submitted their answers online. RESULTS: The specialists estimated that the percentage of severe cases among total asthma patients in their practice was 13.9%±11.0%. Asthma aggravation by stepping down treatment was the most common subtype, followed by frequent exacerbation, uncontrolled asthma despite higher treatment steps, and serious exacerbation. ACOS was estimated to account for 20.7% of asthma, 38.0% of severe asthma, and 30.1% of COPD cases. A history of smoking, persistently low forced expiratory volume in 1 second (FEV1), and low FEV1 variation were most frequently classified as the major criteria for the diagnosis of ACOS among asthma patients. Among COPD patients, the highly selected major criteria for ACOS were high FEV1 variation, positive bronchodilator response, a personal history of allergies and positive airway hyperresponsiveness. Allergists and pulmonologists showed different assessments and opinions on asthma phenotyping, percentage, and diagnostic criteria for ACOS. CONCLUSIONS: Specialists had diverse perceptions and clinical practices regarding severe asthma and ACOS patients. This heterogeneity must be considered in future studies and strategy development for severe asthma and ACOS.
Allergy and Immunology ; Asthma* ; Diagnosis ; Electronic Mail ; Forced Expiratory Volume ; Humans ; Hypersensitivity ; Lung Diseases, Obstructive ; Population Characteristics ; Pulmonary Disease, Chronic Obstructive ; Smoke ; Smoking ; Specialization* ; Tuberculosis

OBJECTIVE: To quantitatively measure hepatic fibrosis on gadoxetic acid-enhanced magnetic resonance (MR) in chronic hepatitis B (CHB) patients and identify the correlations with aspartate aminotransferase-to-platelet ratio index (APRI) and fibrosis-4 index (FIB-4) values. MATERIALS AND METHODS: This study on gadoxetic acid-enhanced 3T MR imaging included 81 patients with CHB infection. To quantitatively measure hepatic fibrosis, MR images were analyzed with an aim to identify inhomogeneous signal intensities calculated from a coefficient of variation (CV) map in the liver parenchyma. We also carried out a comparative analysis between APRI and FIB-4 based on metaregression results. The diagnostic performance of the CV map was evaluated using a receiver-operating characteristic (ROC) curve. RESULTS: In the MR images, the mean CV values in control, groups I, II, and III based on APRI were 4.08 ± 0.92, 4.24 ± 0.80, 5.64 ± 1.11, and 5.73 ± 1.28, respectively (p < 0.001). In CHB patients grouped by FIB-4, the mean CV values of groups A, B, and C were 4.22 ± 0.95, 5.40 ± 1.19, and 5.71 ± 1.17, respectively (p < 0.001). The mean CV values correlated well with APRI (r = 0.392, p < 0.001) and FIB-4 (r = 0.294, p < 0.001). In significant fibrosis group, ROC curve analysis yielded an area under the curve of 0.875 using APRI and 0.831 using FIB-4 in HB, respectively. CONCLUSION: Gadoxetic acid-enhanced MR imaging for calculating a CV map showed moderate correlation with APRI and FIB-4 values and could be employed to quantitatively measure hepatic fibrosis in patients with CHB.
Aspartate Aminotransferases* ; Aspartic Acid* ; Blood Platelets* ; Fibrosis* ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Liver ; Magnetic Resonance Imaging* ; ROC Curve

In order to investigate the status of intestinal helminthic infections in Cambodia, epidemiological surveys were carried out on a national scale, including 19 provinces. A total of 32,201 fecal samples were collected from schoolchildren and adults between 2006 and 2011 and examined once by the Kato-Katz thick smear technique. The overall egg positive rate of intestinal helminths was 26.2%. The prevalence of hookworms was the highest (9.6%), followed by that of Opisthorchis viverrini/minute intestinal flukes (Ov/MIF) (5.7%), Ascaris lumbricoides (4.6%), and Trichuris trichiura (4.1%). Other types of parasites detected were Enterobius vermicularis (1.1%), Taenia spp. (0.4%), and Hymenolepis spp. (0.2%). The northwestern regions such as the Siem Reap, Oddar Meanchey, and Banteay Meanchey Provinces showed higher prevalences (17.4-22.3%) of hookworms than the other localities. The southwestern areas, including Koh Kong and Preah Sihanouk Provinces showed higher prevalences of A. lumbricoides (17.5-19.2%) and T. trichiura (6.1-21.0%). Meanwhile, the central and southern areas, in particular, Takeo and Kampong Cham Provinces, showed high prevalences of Ov/MIF (23.8-24.0%). The results indicate that a considerably high prevalence of intestinal helminths has been revealed in Cambodia, and thus sustained national parasite control projects are necessary to reduce morbidity due to parasitic infections in Cambodia.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Cambodia/epidemiology ; Child ; Feces/*parasitology ; Female ; Helminthiasis/*epidemiology ; Helminths/*classification/*isolation & purification ; Humans ; Intestinal Diseases, Parasitic/*epidemiology ; Male ; Middle Aged ; Prevalence ; Topography, Medical ; Young Adult

A survey was performed to investigate the infection status of freshwater fish with zoonotic trematode metacercariae in Phnom Penh and Pursat Province, Cambodia. All collected fish with ice were transferred to our laboratory and examined using the artificial digestion method. In fish from Phnom Penh, 2 kinds of metacercariae (Opisthorchis viverrini and Haplorchis yokogawai) were detected. O. viverrini metacercariae were positive in 37 (50.0%) of 74 fish in 11 species (average no. metacercariae/fish, 18.6). H. yokogawai metacercariae were detected in 23 (57.5%) of 40 fish in 5 species (average no. metacercariae/fish, 21.0). In fish from Pursat Province, 5 kinds of metacercariae (O. viverrini, H. yokogawai, Haplorchis pumilio, Centrocestus formosanus, and Procerovum sp.) were detected; O. viverrini metacercariae (n=3) in 2 fish species (Henicorhynchus lineatus and Puntioplites falcifer), H. yokogawai metacercariae (n=51) in 1 species (P. falcifer), H. pumilio metacercariae (n=476) in 2 species (H. lineatus and Pristolepis fasciata), C. formosanus metacercariae (n=1) in 1 species (H. lineatus), and Procerovum sp. metacercariae (n=63) in 1 species (Anabas testudineus). From the above results, it has been confirmed that various freshwater fish play the role of a second intermediate host for zoonotic trematodes (O. viverrini, H. yokogawai, H. pumilio, C. formosanus, and Procerovum sp.) in Cambodia.
Animals ; Cambodia/epidemiology ; Fish Diseases/*epidemiology/*parasitology ; Humans ; Metacercariae/classification/isolation & purification ; Prevalence ; Trematoda/*classification/*isolation & purification ; Trematode Infections/epidemiology/parasitology/*veterinary