1.A Multicenter Study to Identify the Respiratory Pathogens Associated with Exacerbation of Chronic Obstructive Pulmonary Disease in Korea
Hyun Woo LEE ; Yun Su SIM ; Ji Ye JUNG ; Hyewon SEO ; Jeong-Woong PARK ; Kyung Hoon MIN ; Jae Ha LEE ; Byung-Keun KIM ; Myung Goo LEE ; Yeon-Mok OH ; Seung Won RA ; Tae-Hyung KIM ; Yong il HWANG ; Chin Kook RHEE ; Hyonsoo JOO ; Eung Gu LEE ; Jin Hwa LEE ; Hye Yun PARK ; Woo Jin KIM ; Soo-Jung UM ; Joon Young CHOI ; Chang-Hoon LEE ; Tai Joon AN ; Yeonhee PARK ; Young-Soon YOON ; Joo Hun PARK ; Kwang Ha YOO ; Deog Kyeom KIM
Tuberculosis and Respiratory Diseases 2022;85(1):37-46
Background:
Although respiratory tract infection is one of the most important factors triggering acute exacerbation of chronic obstructive pulmonary disease (AE-COPD), limited data are available to suggest an epidemiologic pattern of microbiology in South Korea.
Methods:
A multicenter observational study was conducted between January 2015 and December 2018 across 28 hospitals in South Korea. Adult patients with moderate-to-severe acute exacerbations of COPD were eligible to participate in the present study. The participants underwent all conventional tests to identify etiology of microbial pathogenesis. The primary outcome was the percentage of different microbiological pathogens causing AE-COPD. A comparative microbiological analysis of the patients with overlapping asthma–COPD (ACO) and pure COPD was performed.
Results:
We included 1,186 patients with AE-COPD. Patients with pure COPD constituted 87.9% and those with ACO accounted for 12.1%. Nearly half of the patients used an inhaled corticosteroid-containing regimen and one-fifth used systemic corticosteroids. Respiratory pathogens were found in 55.3% of all such patients. Bacteria and viruses were detected in 33% and 33.2%, respectively. Bacterial and viral coinfections were found in 10.9%. The most frequently detected bacteria were Pseudomonas aeruginosa (9.8%), and the most frequently detected virus was influenza A (10.4%). Multiple bacterial infections were more likely to appear in ACO than in pure COPD (8.3% vs. 3.6%, p=0.016).
Conclusion
Distinct microbiological patterns were identified in patients with moderate-to-severe AE-COPD in South Korea. These findings may improve evidence-based management of patients with AE-COPD and represent the basis for further studies investigating infectious pathogens in patients with COPD.
2.Cerebrovascular Reservoir and Arterial Transit Time Changes Assessed by Acetazolamide-Challenged Multi-Phase Arterial Spin Labeling Perfusion MRI in Chronic Cerebrovascular Steno-Occlusive Disease
Inpyeong HWANG ; Chul-Ho SOHN ; Keun-Hwa JUNG ; Eung Koo YEON ; Ji Ye LEE ; Roh-Eul YOO ; Koung Mi KANG ; Tae Jin YUN ; Seung Hong CHOI ; Ji-hoon KIM
Journal of the Korean Radiological Society 2021;82(3):626-637
Purpose:
To explore cerebrovascular reservoir (CVR) and arterial transit time (ATT) changes using acetazolamide-challenged multi-phase arterial spin labeling (MP-ASL) perfusion-weighted MRI in chronic cerebrovascular steno-occlusive disease.
Materials and Methods:
This retrospective study enrolled patients with chronic steno-occlusion who underwent acetazolamide-challenged MP-ASL between June 2019 and October 2020.Cerebral blood flow, CVR, basal ATT, and ATT changes associated with severe stenosis, total occlusion, and chronic infarction lesions were compared.
Results:
There were 32 patients (5 with bilateral steno-occlusion) in our study sample. The CVR was significantly reduced during total occlusion compared with severe stenosis (26.2% ± 28.8% vs. 41.4% ± 34.1%, respectively, p = 0.004). The ATT changes were not significantly different (p = 0.717). The CVR was marginally lower in patients with chronic infarction (29.6% ± 39.1% vs. 38.9% ± 28.7%, respectively, p = 0.076). However, the ATT was less shortened in pa-tients with chronic infarction (-54 ± 135 vs. -117 ± 128 ms, respectively, p = 0.013).
Conclusion
Acetazolamide-challenged MP-ASL provides an MRI-based CVR evaluation tool for chronic steno-occlusive disease.
3.Cerebrovascular Reservoir and Arterial Transit Time Changes Assessed by Acetazolamide-Challenged Multi-Phase Arterial Spin Labeling Perfusion MRI in Chronic Cerebrovascular Steno-Occlusive Disease
Inpyeong HWANG ; Chul-Ho SOHN ; Keun-Hwa JUNG ; Eung Koo YEON ; Ji Ye LEE ; Roh-Eul YOO ; Koung Mi KANG ; Tae Jin YUN ; Seung Hong CHOI ; Ji-hoon KIM
Journal of the Korean Radiological Society 2021;82(3):626-637
Purpose:
To explore cerebrovascular reservoir (CVR) and arterial transit time (ATT) changes using acetazolamide-challenged multi-phase arterial spin labeling (MP-ASL) perfusion-weighted MRI in chronic cerebrovascular steno-occlusive disease.
Materials and Methods:
This retrospective study enrolled patients with chronic steno-occlusion who underwent acetazolamide-challenged MP-ASL between June 2019 and October 2020.Cerebral blood flow, CVR, basal ATT, and ATT changes associated with severe stenosis, total occlusion, and chronic infarction lesions were compared.
Results:
There were 32 patients (5 with bilateral steno-occlusion) in our study sample. The CVR was significantly reduced during total occlusion compared with severe stenosis (26.2% ± 28.8% vs. 41.4% ± 34.1%, respectively, p = 0.004). The ATT changes were not significantly different (p = 0.717). The CVR was marginally lower in patients with chronic infarction (29.6% ± 39.1% vs. 38.9% ± 28.7%, respectively, p = 0.076). However, the ATT was less shortened in pa-tients with chronic infarction (-54 ± 135 vs. -117 ± 128 ms, respectively, p = 0.013).
Conclusion
Acetazolamide-challenged MP-ASL provides an MRI-based CVR evaluation tool for chronic steno-occlusive disease.
4.Validation of the Korean Version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease Rating Scale
Ji-Hyun CHOI ; Jee-Young LEE ; Jin Whan CHO ; Seong-Beom KO ; Tae-Beom AHN ; Sang Jin KIM ; Sang-Myung CHEON ; Joong-Seok KIM ; Yoon-Joong KIM ; Hyeo-Il MA ; Jong Sam BAIK ; Phil Hyu LEE ; Sun Ju CHUNG ; Jong-Min KIM ; In-Uk SONG ; Han-Joon KIM ; Young-Hee SUNG ; Do Young KWON ; Jae-Hyeok LEE ; Ji-Young KIM ; Ji Sun KIM ; Ji Young YUN ; Hee Jin KIM ; Jin Yong HONG ; Mi-Jung Kim KIM ; Jinyoung YOUN ; Ji Seon Kim KIM ; Eung Seok OH ; Hui-Jun YANG ; Won Tae YOON ; Sooyeoun YOU ; Kyum-Yil KWON ; Hyung-Eun PARK ; Su-Yun LEE ; Younsoo KIM ; Hee-Tae KIM ; Mee Young PARK
Journal of Clinical Neurology 2020;16(2):245-253
Background:
and PurposeImpulse-control disorder is an important nonmotor symptom of Parkinson's disease (PD) that can lead to financial and social problems, and be related to a poor quality of life. A nationwide multicenter prospective study was performed with the aim of validating the Korean Version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease Rating Scale (K-QUIP-RS).
Methods:
The K-QUIP-RS was constructed using forward and backward translation, and pretesting of the prefinal version. PD patients on stable medical condition were recruited from 27 movement-disorder clinics. Participants were assessed using the K-QUIP-RS and evaluated for parkinsonian motor and nonmotor statuses and for PD-related quality of life using a predefined evaluation battery. The test–retest reliability of the K-QUIP-RS was assessed over an interval of 10–14 days, and correlations between the KQUIP-RS and other clinical scales were analyzed.
Results:
This study enrolled 136 patients. The internal consistency of the K-QUIP-RS was indicated by a Cronbach's α coefficient of 0.846, as was the test–retest reliability by a Guttman split-half coefficient of 0.808. The total K-QUIP-RS score was positively correlated with the scores for depression and motivation items on the Unified PD Rating Scale (UPDRS), Montgomery-Asberg Depression Scale, and Rapid-Eye-Movement Sleep-Behavior-Disorders Questionnaire. The total K-QUIP-RS score was also correlated with the scores on part II of the UPDRS and the PD Quality of Life-39 questionnaire, and the dopaminergic medication dose.
Conclusions
The K-QUIP-RS appears to be a reliable assessment tool for impulse-control and related behavioral disturbances in the Korean PD population.
5.Subtypes of Sleep Disturbance in Parkinson's Disease Based on the Cross-Culturally Validated Korean Version of Parkinson's Disease Sleep Scale-2
Hui Jun YANG ; Han Joon KIM ; Seong Beom KOH ; Joong Seok KIM ; Tae Beom AHN ; Sang Myung CHEON ; Jin Whan CHO ; Yoon Joong KIM ; Hyeo Il MA ; Mee Young PARK ; Jong Sam BAIK ; Phil Hyu LEE ; Sun Ju CHUNG ; Jong Min KIM ; In Uk SONG ; Ji Young KIM ; Young Hee SUNG ; Do Young KWON ; Jae Hyeok LEE ; Jee Young LEE ; Ji Seon KIM ; Ji Young YUN ; Hee Jin KIM ; Jin Yong HONG ; Mi Jung KIM ; Jinyoung YOUN ; Ji Sun KIM ; Eung Seok OH ; Won Tae YOON ; Sooyeoun YOU ; Kyum Yil KWON ; Hyung Eun PARK ; Su Yun LEE ; Younsoo KIM ; Hee Tae KIM ; Sang Jin KIM
Journal of Clinical Neurology 2020;16(1):66-74
BACKGROUND:
AND PURPOSE: This study aimed to determine the clinimetric properties of the Korean version of Parkinson's Disease Sleep Scale-2 (K-PDSS-2) and whether distinct subtypes of sleep disturbance can be empirically identified in patients with Parkinson's disease (PD) using the cross-culturally validated K-PDSS-2.
METHODS:
The internal consistency, test–retest reliability, scale precision, and convergent validity of K-PDSS-2 were assessed in a nationwide, multicenter study of 122 patients with PD. Latent class analysis (LCA) was used to derive subgroups of patients who experienced similar patterns of sleep-related problems and nocturnal disabilities.
RESULTS:
The total K-PDSS-2 score was 11.67±9.87 (mean±standard deviation) at baseline and 12.61±11.17 at the retest. Cronbach's α coefficients of the total K-PDSS-2 scores at baseline and follow-up were 0.851 and 0.880, respectively. The intraclass correlation coefficients over the 2-week study period ranged from 0.672 to 0.848. The total K-PDSS-2 score was strongly correlated with health-related quality of life measures and other corresponding nonmotor scales. LCA revealed three distinct subtypes of sleep disturbance in the study patients: “less-troubled sleepers,â€â€œPD-related nocturnal difficulties,†and “disturbed sleepers.â€
CONCLUSIONS
K-PDSS-2 showed good clinimetric attributes in accordance with previous studies that employed the original version of the PDSS-2, therefore confirming the cross-cultural usefulness of the scale. This study has further documented the first application of an LCA approach for identifying subtypes of sleep disturbance in patients with PD.
6.Executive Summary of Stroke Statistics in Korea 2018: A Report from the Epidemiology Research Council of the Korean Stroke Society
Jun Yup KIM ; Kyusik KANG ; Jihoon KANG ; Jaseong KOO ; Dae Hyun KIM ; Beom Joon KIM ; Wook Joo KIM ; Eung Gyu KIM ; Jae Guk KIM ; Jeong Min KIM ; Joon Tae KIM ; Chulho KIM ; Hyun Wook NAH ; Kwang Yeol PARK ; Moo Seok PARK ; Jong Moo PARK ; Jong Ho PARK ; Tai Hwan PARK ; Hong Kyun PARK ; Woo Keun SEO ; Jung Hwa SEO ; Tae Jin SONG ; Seong Hwan AHN ; Mi Sun OH ; Hyung Geun OH ; Sungwook YU ; Keon Joo LEE ; Kyung Bok LEE ; Kijeong LEE ; Sang Hwa LEE ; Soo Joo LEE ; Min Uk JANG ; Jong Won CHUNG ; Yong Jin CHO ; Kang Ho CHOI ; Jay Chol CHOI ; Keun Sik HONG ; Yang Ha HWANG ; Seong Eun KIM ; Ji Sung LEE ; Jimi CHOI ; Min Sun KIM ; Ye Jin KIM ; Jinmi SEOK ; Sujung JANG ; Seokwan HAN ; Hee Won HAN ; Jin Hyuk HONG ; Hyori YUN ; Juneyoung LEE ; Hee Joon BAE
Journal of Stroke 2019;21(1):42-59
Despite the great socioeconomic burden of stroke, there have been few reports of stroke statistics in Korea. In this scenario, the Epidemiologic Research Council of the Korean Stroke Society launched the “Stroke Statistics in Korea” project, aimed at writing a contemporary, comprehensive, and representative report on stroke epidemiology in Korea. This report contains general statistics of stroke, prevalence of behavioral and vascular risk factors, stroke characteristics, pre-hospital system of care, hospital management, quality of stroke care, and outcomes. In this report, we analyzed the most up-to-date and nationally representative databases, rather than performing a systematic review of existing evidence. In summary, one in 40 adults are patients with stroke and 232 subjects per 100,000 experience a stroke event every year. Among the 100 patients with stroke in 2014, 76 had ischemic stroke, 15 had intracerebral hemorrhage, and nine had subarachnoid hemorrhage. Stroke mortality is gradually declining, but it remains as high as 30 deaths per 100,000 individuals, with regional disparities. As for stroke risk factors, the prevalence of smoking is decreasing in men but not in women, and the prevalence of alcohol drinking is increasing in women but not in men. Population-attributable risk factors vary with age. Smoking plays a role in young-aged individuals, hypertension and diabetes in middle-aged individuals, and atrial fibrillation in the elderly. About four out of 10 hospitalized patients with stroke are visiting an emergency room within 3 hours of symptom onset, and only half use an ambulance. Regarding acute management, the proportion of patients with ischemic stroke receiving intravenous thrombolysis and endovascular treatment was 10.7% and 3.6%, respectively. Decompressive surgery was performed in 1.4% of patients with ischemic stroke and in 28.1% of those with intracerebral hemorrhage. The cumulative incidence of bleeding and fracture at 1 year after stroke was 8.9% and 4.7%, respectively. The direct costs of stroke were about ₩1.68 trillion (KRW), of which ₩1.11 trillion were for ischemic stroke and ₩540 billion for hemorrhagic stroke. The great burden of stroke in Korea can be reduced through more concentrated efforts to control major attributable risk factors for age and sex, reorganize emergency medical service systems to give patients with stroke more opportunities for reperfusion therapy, disseminate stroke unit care, and reduce regional disparities. We hope that this report can contribute to achieving these tasks.
Adult
;
Aged
;
Alcohol Drinking
;
Ambulances
;
Atrial Fibrillation
;
Cerebral Hemorrhage
;
Emergency Medical Services
;
Emergency Service, Hospital
;
Epidemiology
;
Female
;
Hemorrhage
;
Hope
;
Humans
;
Hypertension
;
Incidence
;
Korea
;
Male
;
Mortality
;
Prevalence
;
Reperfusion
;
Risk Factors
;
Smoke
;
Smoking
;
Stroke
;
Subarachnoid Hemorrhage
;
Writing
7.The Prevalence of Cerebral Microbleeds in Non-Demented Parkinson's Disease Patients.
Kyeong Joon KIM ; Yun Jung BAE ; Jong Min KIM ; Beom Joon KIM ; Eung Seok OH ; Ji Young YUN ; Ji Seon KIM ; Han Joon KIM
Journal of Korean Medical Science 2018;33(46):e289-
BACKGROUND: Cerebral microbleeds (CMBs) are associated with cerebrovascular risk factors and cognitive dysfunction among patients with Parkinson's disease (PD). However, whether CMBs themselves are associated with PD is to be elucidated. METHODS: We analyzed the presence of CMBs using 3-Tesla brain magnetic resonance imaging in non-demented patients with PD and in age-, sex-, and hypertension-matched control subjects. PD patients were classified according to their motor subtypes: tremor-dominant, intermediate, and postural instability-gait disturbance (PIGD). Other cerebrovascular risk factors and small vessel disease (SVD) burdens were also evaluated. RESULTS: Two-hundred and five patients with PD and 205 control subjects were included. The prevalence of CMBs was higher in PD patients than in controls (16.1% vs. 8.8%; odds ratio [OR], 2.126; P = 0.019); CMBs in the lobar area showed a significant difference between PD patients and controls (11.7% vs. 5.9%; OR, 2.234; P = 0.032). According to the motor subtype, CMBs in those with PIGD type showed significant difference from controls with respect to the overall brain area (21.1% vs. 8.9%; OR, 2.759; P = 0.010) and lobar area (14.6% vs. 4.9%; OR, 3.336; P = 0.016). Among PD patients, those with CMBs had higher age and more evidence of SVDs than those without CMBs. CONCLUSION: We found that CMBs are more frequent in PD patients than in controls, especially in those with the PIGD subtype and CMBs on the lobar area. Further study investigating the pathogenetic significance of CMBs is required.
Brain
;
Humans
;
Magnetic Resonance Imaging
;
Odds Ratio
;
Parkinson Disease*
;
Prevalence*
;
Risk Factors
8.Validation of the Korean Version of the Scales for Outcomes in Parkinson's Disease-Sleep
Young Hee SUNG ; Hee Jin KIM ; Seong Beom KOH ; Joong Seok KIM ; Sang Jin KIM ; Sang Myung CHEON ; Jin Whan CHO ; Yoon Joong KIM ; Hyeo Il MA ; Mee Young PARK ; Jong Sam BAIK ; Phil Hyu LEE ; Sun Ju CHUNG ; Jong Min KIM ; In Uk SONG ; Han Joon KIM ; Ji Young KIM ; Do Young KWON ; Jae Hyeok LEE ; Jee Young LEE ; Ji Seon KIM ; Ji Young YUN ; Jin Yong HONG ; Mi Jung KIM ; Jinyoung YOUN ; Ji Sun KIM ; Eung Seok OH ; Hui Jun YANG ; Won Tae YOON ; Sooyeoun YOU ; Kyum Yil KWON ; Hyung Eun PARK ; Su Yun LEE ; Younsoo KIM ; Hee Tae KIM ; Tae Beom AHN
Journal of Korean Medical Science 2018;33(2):e14-
BACKGROUND: Sleep problems commonly occur in patients with Parkinson's disease (PD), and are associated with a lower quality of life. The aim of the current study was to translate the English version of the Scales for Outcomes in Parkinson's Disease-Sleep (SCOPA-S) into the Korean version of SCOPA-S (K-SCOPA-S), and to evaluate its reliability and validity for use by Korean-speaking patients with PD. METHODS: In total, 136 patients with PD from 27 movement disorder centres of university-affiliated hospitals in Korea were enrolled in this study. They were assessed using SCOPA, Hoehn and Yahr Scale (HYS), Unified Parkinson's Disease Rating Scale (UPDRS), Parkinson's Disease Sleep Scale 2nd version (PDSS-2), Non-motor Symptoms Scale (NMSS), Montgomery Asberg Depression Scale (MADS), 39-item Parkinson's Disease Questionnaire (PDQ39), Neurogenic Orthostatic Hypotension Questionnaire (NOHQ), and Rapid Eye Movement Sleep Behaviour Disorder Questionnaire (RBDQ). The test-retest reliability was assessed over a time interval of 10–14 days. RESULTS: The internal consistency (Cronbach's α-coefficients) of K-SCOPA-S was 0.88 for nighttime sleep (NS) and 0.75 for daytime sleepiness (DS). Test-retest reliability was 0.88 and 0.85 for the NS and DS, respectively. There was a moderate correlation between the NS sub-score and PDSS-2 total score. The NS and DS sub-scores of K-SCOPA-S were correlated with motor scale such as HYS, and non-motor scales such as UPDRS I, UPDRS II, MADS, NMSS, PDQ39, and NOHQ while the DS sub-score was with RBDQ. CONCLUSION: The K-SCOPA-S exhibited good reliability and validity for the assessment of sleep problems in the Korean patients with PD.
Depression
;
Humans
;
Hypotension, Orthostatic
;
Korea
;
Movement Disorders
;
Parkinson Disease
;
Quality of Life
;
Reproducibility of Results
;
Sleep, REM
;
Weights and Measures
9.Validation of the Korean Version of the Scale for Outcomes in Parkinson's Disease-Autonomic.
Ji Young KIM ; In Uk SONG ; Seong Beom KOH ; Tae Beom AHN ; Sang Jin KIM ; Sang Myung CHEON ; Jin Whan CHO ; Yun Joong KIM ; Hyeo Il MA ; Mee Young PARK ; Jong Sam BAIK ; Phil Hyu LEE ; Sun Ju CHUNG ; Jong Min KIM ; Han Joon KIM ; Young Hee SUNG ; Do Young KWON ; Jae Hyeok LEE ; Jee Young LEE ; Ji Sun KIM ; Ji Young YUN ; Hee Jin KIM ; Jin Young HONG ; Mi Jung KIM ; Jinyoung YOUN ; Ji Seon KIM ; Eung Seok OH ; Hui Jun YANG ; Won Tae YOON ; Sooyeoun YOU ; Kyum Yil KWON ; Hyung Eun PARK ; Su Yun LEE ; Younsoo KIM ; Hee Tae KIM ; Joong Seok KIM
Journal of Movement Disorders 2017;10(1):29-34
OBJECTIVE: Autonomic symptoms are commonly observed in patients with Parkinson's disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients. METHODS: For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days. RESULTS: The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach's α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson's Disease Rating Scale part II) and quality of life [the Korean version of Parkinson's Disease Quality of Life 39 (K-PDQ39)]. CONCLUSION: The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.
Activities of Daily Living
;
Humans
;
Korea
;
Movement Disorders
;
Parkinson Disease
;
Quality of Life
;
Reproducibility of Results
10.Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
Noo Ri LEE ; Na Young YOON ; Minyoung JUNG ; Ji Yun KIM ; Seong Jun SEO ; Hye young WANG ; Hyeyoung LEE ; Young Bae SOHN ; Eung Ho CHOI
Journal of Korean Medical Science 2016;31(8):1307-1318
X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.
Adolescent
;
Adult
;
Asian Continental Ancestry Group/*genetics
;
Child
;
Chromosomes, Human, X
;
Comparative Genomic Hybridization
;
Cytokines/metabolism
;
Humans
;
Hydrogen-Ion Concentration
;
Ichthyosis/diagnosis/*genetics/pathology
;
In Situ Hybridization, Fluorescence
;
Intermediate Filament Proteins/genetics
;
Kallikreins/*genetics
;
Male
;
Polymorphism, Single Nucleotide
;
Proteinase Inhibitory Proteins, Secretory/genetics
;
Republic of Korea
;
Skin/metabolism/*pathology
;
Young Adult

Result Analysis
Print
Save
E-mail