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1.
Allergy Asthma Immunol Res ; 15(6): 825-836, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37957798

ABSTRACT

PURPOSE: Atmospheric fungi are associated with respiratory allergies in humans, and some fungal spores can cause allergic diseases. Environmental and biological factors influence the concentrations of atmospheric spores. In this study, we evaluated the climate change-induced annual variations in fungal spore concentrations and allergic sensitization rates in the Seoul Metropolitan Area over a period of 25 years. METHODS: Fungal spores and pollen were obtained from Hanyang University Seoul and Guri Hospitals; they were identified and counted for 25 years (1998-2022). The study participants included patients who underwent tests for allergic diseases in both hospitals. Their allergenic sensitization rates were determined via allergic skin prick and serum tests, after which their sensitization rates to allergenic fungi and pollens were calculated. The daily climatic variables were obtained from the Korea Meteorological Administration. RESULTS: The total annual atmospheric fungal concentrations decreased in both areas during the period. Simultaneously, we recruited 21,394 patients with allergies (asthma, 1,550; allergic rhinitis, 5,983; and atopic dermatitis, 5,422) from Seoul and Guri Hospitals for allergenic fungal sensitization evaluations over the period. The allergenic fungal sensitization rates decreased annually in both areas over that time `+(Alternaria [3.5%] and Cladosporium [4.4%] in 1998; Alternaria [0.2%] and Cladosporium [0.2%] in 2022). In contrast, the annual pollen concentrations increased with the sensitization rates to pollen in children. CONCLUSIONS: The atmospheric fungal concentrations decreased annually, with allergic sensitization rate decreasing over the period of 25 years. Allergenic fungal sporulation could decrease with climate changes, such as desertification and drought. Extended monitoring periods and further large-scale studies are required to confirm the causality and to evaluate the impact of climate change.

2.
Article in English | MEDLINE | ID: mdl-37578483

ABSTRACT

BACKGROUND: The effect of probiotics in the treatment of atopic dermatitis (AD) is inconclusive, partially due to the heterogeneities of AD. OBJECTIVE: The aim of the present study was to investigate the efficacy of probiotics in the treatment of AD with a subgroup analysis according to country, severity of AD, duration of supplementation, and probiotic strain. METHODS: Original articles reporting the therapeutic efficacy of probiotics for AD were identified by searching PubMed, Cochrane Library databases, and Embase from inception to September 30, 2022. RESULTS: This meta-analysis included 1,382 patients with AD from 25 randomized controlled trials. Probiotic supplementation was effective for the treatment of AD, reflected in a significant decrease in the SCORing Atopic Dermatitis (SCORAD) index (SMD, -4.0; 95%CI, -7.3 to -0.7). The subgroup analysis showed a significant therapeutic effect for AD among patients with mild or moderate AD (SMD, -1.4; 95%CIs -2.2 to -0.7), in those supplemented for more than three months (SMD, -5.1; 95%CIs -9.7 to -0.4), and in those supplemented with a probiotic that contained Lactobacillus spp. strains combined with or without other strains (SMD, -4.4; 95%CIs -8.0 to -0.8). In addition, the therapeutic effects of probiotics showed differences according to country and geographic region. CONCLUSIONS: Probiotics can be beneficial for the treatment of AD, and their therapeutic effect may be individually tailored to improve it based on the severity of AD, strain of probiotics, duration of supplementation, and geographic region.

3.
Front Public Health ; 11: 1133312, 2023.
Article in English | MEDLINE | ID: mdl-37181696

ABSTRACT

Purpose: This study aimed to investigate associations of socioeconomic status (SES) with asthma exacerbation and asthma-related hospital utilization factors among children with asthma in the Republic of Korea. Methods: This study retrospectively analyzed population-level data from the Korean National Health Insurance Service, collected from 2013 through 2019. SES was classified into five categories according to the national health insurance premiums quantiles (0 [lowest] to 4 [highest]). The hazard ratios (HRs) for asthma exacerbation, emergency department (ED) visits, hospital admission, and intensive care unit (ICU) admission were analyzed with respect to SES. Results: Among the five SES groups, SES group 0 (medical aid), had the highest tallies and proportions of children who experienced asthma exacerbations (n = 1,682, 4.8%), ED visits (n = 932, 2.6%), hospital admission (n = 2,734, 7.7%) and ICU admission (n = 14, 0.04%). Compared with SES group 4, SES group 0 had adjusted HRs of 3.73 (p = 0.0113) and 1.04 (p < 0.0001) for ventilator support/tracheal intubation and administration of systemic corticosteroids, respectively. Relative to group 4, the adjusted HRs for ED visits, hospital admission, and ICU admission in group 0 were 1.88 (p < 0.0001), 2.20 (p < 0.0001), and 7.12 (p < 0.0001), respectively. In the survival analysis, group 0 had a significantly higher risk of ED presentation, hospital admission, and ICU admission than the other groups (log-rank p < 0.001). Conclusion: Compared with children of higher SES, those in the lowest SES group had increased risk of asthma exacerbation, hospital admission, and receiving treatment for severe asthma symptoms.


Subject(s)
Asthma , Social Class , Humans , Child , Retrospective Studies , Asthma/epidemiology , Asthma/therapy , Hospitalization , Republic of Korea/epidemiology
4.
Front Pediatr ; 11: 1028901, 2023.
Article in English | MEDLINE | ID: mdl-37187585

ABSTRACT

Purpose: Air pollutants contribute to asthma exacerbation, and the types of air pollutants involved in acute asthma exacerbation may differ depending on climate and environmental conditions. This study aimed to identify factors affecting asthma exacerbation in each of the four seasons so that to prevent acute asthma exacerbation and to establish effective treatment strategies for each season. Methods: Pediatric patients aged 0-18 years old hospitalized or admitted to the emergency room for asthma exacerbation at Hanyang University Guri Hospital between January 1, 2007, and December 31, 2019 were recruited. The number of asthma exacerbations comprised the total number of patients admitted to the emergency room or hospitalized for asthma and treated with systemic steroids. The association between the number of asthma exacerbations/week and average concentrations of atmospheric substances and meteorological elements in that week were analyzed. Multiple linear regression analyses were performed to examine the association between various atmospheric variables and the number of asthma exacerbations. Results: The number of asthma exacerbations was found to be associated with the concentration of particulate matter with an aerodynamic diameter of ≤10 µm in that week in autumn. No atmospheric variables exhibited an association in other seasons. Conclusions: Air pollutants and meteorological factors affecting asthma exacerbation vary by season. Moreover, their effects may change via their interaction with each other. The results of this study suggest that it will be helpful to establish differentiated measures for each season to prevent asthma exacerbation.

5.
Allergy Asthma Immunol Res ; 15(2): 262-270, 2023 Mar.
Article in English | MEDLINE | ID: mdl-37021510

ABSTRACT

Various therapeutic approaches, including supplemental nutritional support, have been tried for the treatment of atopic dermatitis (AD). Previous studies have reported the role of vitamin D in the treatment of AD with inconsistent results. The aim of this study was to evaluate the effectiveness of vitamin D in the treatment of AD, with considerations on the heterogeneities of AD. Randomized controlled trials (RCTs) on the efficacy of vitamin D supplementation for AD treatment, published before June 30, 2021 were identified in the PubMed, EMBASE, MEDLINE, and Cochrane Library databases. The quality of evidence was assessed using the Grading of Recommendations, Assessment, Development and Evaluation system. This meta-analysis included 5 RCTs with 304 cases of AD. We found that vitamin D supplementation did not decrease AD severity, even when AD was classified as severe vs non-severe. However, vitamin D supplementation was found to be effective in the treatment of AD in RCTs that included both children and adults, but not in those that included only children. Geographic location was associated with a significant difference in the therapeutic effect of vitamin D supplementation. Moreover, vitamin D supplementation of > 2,000 IU/day decreased AD severity, but supplementation ≤ 2,000 IU/day did not. Vitamin D supplementation, in general, was not effective for the treatment of AD. However, vitamin D supplementation might provide a therapeutic effect depending on the geographic location and dose of supplementation. The results of the present meta-analysis suggest that vitamin D supplementation might be targeted for patients with AD who may benefit from vitamin D supplementation.

6.
World J Clin Cases ; 11(4): 972-978, 2023 Feb 06.
Article in English | MEDLINE | ID: mdl-36818623

ABSTRACT

BACKGROUND: Omental infarction (OI) is a surgical abdominal disease that is not common in adults and is very rare in children. Similar to various acute abdominal pain diseases including appendicitis, diagnosis was previously achieved by diagnostic laparotomy but more recently, ultrasonography or computed tomography (CT) examination has been used. CASE SUMMARY: A 6-year-old healthy boy with no specific medical history visited the emergency room with right lower abdominal pain. He underwent abdominal ultrasonography by a radiologist to rule out acute appendicitis. He was discharged with no significant sonographic finding and symptom relief. However, the symptoms persisted for 2 more days and an outpatient visit was made. An outpatient abdominal CT was used to make a diagnosis of OI. After laparoscopic operation, his symptoms resolved. CONCLUSION: In children's acute abdominal pain, imaging studies should be performed for appendicitis and OI.

7.
Clin Exp Pediatr ; 66(3): 134-141, 2023 03.
Article in English | MEDLINE | ID: mdl-36550772

ABSTRACT

BACKGROUND: Human coronaviruses (HCoV) cause mild upper respiratory infections; however, in 2019, a novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), emerged, causing an acute respiratory disease pandemic. Coronaviruses exhibit marked epidemiological and clinical differences. PURPOSE: This study compared the clinical, laboratory, and radiographic findings of children infected with SARS-CoV-2 versus HCoV. METHODS: SARS-CoV-2 data were obtained from the Korea Disease Control and Prevention Agency (KDCA) registry and 4 dedicated coronavirus disease 2019 (COVID-19) hospitals. Medical records of children admitted with a single HCoV infection from January 2015 to March 2020 were collected from 10 secondary/tertiary hospitals. Clinical data included age, sex, underlying disease, symptoms, test results, imaging findings, treatment, and length of hospital stay. RESULTS: We compared the clinical characteristics of children infected with HCoV (n=475) to those of children infected with SARS-CoV-2 (272 from KDCA, 218 from COVID-19 hospitals). HCoV patients were younger than KDCA patients (older than 9 years:3.6% vs. 75.7%; P<0.001) and patients at COVID-19 hospitals (2.0±2.9 vs 11.3±5.3; P<0.001). Patients with SARS-CoV-2 infection had a lower rate of fever (26.6% vs. 66.7%; P<0.001) and fewer respiratory symptoms than those with HCoV infection. Clinical severity, as determined by oxygen therapy and medication usage, was worse in children with HCoV infection. Children and adolescents with SARS-CoV-2 had less severe symptoms. CONCLUSION: Children and adolescents with COVID-19 had a milder clinical course and less severe disease than those with HCoV in terms of symptoms at admission, examination findings, and laboratory and radiology results.

8.
Genes Genomics ; 45(2): 145-156, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36472766

ABSTRACT

BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. DFNB genes are very diverse in their types and functions, making molecular diagnosis difficult. DFNB is particularly frequent in Pakistan, which may be partly due to consanguinity. OBJECTIVE: This study was performed to determine the genetic causes in Pakistani DFNB families with prelingual onset and to establish genotype-phenotype correlation. METHODS: Whole exome sequencing and subsequent genetic analysis were performed for 11 Pakistani DFNB families including eight consanguineous families. RESULTS: We identified eight pathogenic or likely pathogenic mutations in LOXHD1, GJB2, SLC26A4, MYO15A, and TMC1 from six families. The GJB2 mutations were identified in two families each with compound heterozygous mutations and a homozygous mutation. The compound heterozygous mutations in LOXHD1 ([p.D278Y] + [p.D1219E]) and GJB2 [p.M1?] + [p.G12Vfs*2]) were novel. The four missense or start-loss mutations were located at well conserved residues, and most in silico analysis predicted their pathogenicity. In addition to causative mutations, we found compound heterozygous mutations in PTPRQ as variants of uncertain significance. CONCLUSION: This study identified biallelic mutations as the underlying cause of early onset DFNB in six Pakistani families. This study will be helpful in providing an exact molecular diagnosis and treatment of prelingual onset deafness patients.


Subject(s)
Deafness , Humans , Pakistan , Deafness/genetics , Mutation , Homozygote , Receptor-Like Protein Tyrosine Phosphatases, Class 3/genetics
9.
J Clin Med ; 11(19)2022 Sep 20.
Article in English | MEDLINE | ID: mdl-36233364

ABSTRACT

Anaphylaxis is a severe allergic reaction that requires immediate recognition and intervention. This study investigated the factors related to the timely administration of epinephrine in cases of pediatric anaphylaxis. We performed a retrospective chart review of 107 patients who visited a pediatric emergency center with anaphylaxis between 2015 and 2017. In total, 76 patients received epinephrine injections. We analyzed factors including allergy history, anaphylaxis signs and symptoms, allergen sensitization, anaphylaxis triggers, and time of epinephrine injection. Anaphylactic patients who received epinephrine took a median of 50 min to arrive at the hospital, and patients who did not receive epinephrine took a median of 94 min. Epinephrine administration was significantly delayed by more than 60 min from symptom onset in patients <2 years old. Patients presenting with wheezing symptoms or history of bronchial asthma were significantly more likely to receive epinephrine within 60 min of symptoms onset, while patients with food allergen sensitization were significantly more likely to receive epinephrine within 30 min of hospital arrival. Wheezing, history of asthma, age (≥2 years old), food triggers, and food allergen sensitivity were significant factors for the rapid administration of epinephrine. An immediate diagnosis of anaphylaxis and a rapid administration of epinephrine are essential.

10.
Arch Craniofac Surg ; 23(4): 171-177, 2022 Aug.
Article in English | MEDLINE | ID: mdl-36068692

ABSTRACT

BACKGROUND: The treatment of zygoma complex fractures is of crucial importance in the field of plastic surgery. However, surgical methods to correct zygoma complex fractures, including the number of fixation sites, differ among operators. Although several studies have compared two-point and three-point fixation, no comparative research has yet been conducted on one-point versus two-point fixation using computed tomography scans of surgical results. Therefore, the present study aimed to address this gap in the literature by comparing surgical results between one-point and two-point fixation procedures. METHODS: In this study, we randomly selected patients to undergo surgery using one of two surgical methods. We analyzed patients with unilateral zygoma complex fractures unaccompanied by other fractures according to whether they underwent one-point fixation of the zygomaticomaxillary buttress or two-point fixation of the zygomaticomaxillary buttress and the zygomaticofrontal suture. We then made measurements at three points-the zygomaticofrontal suture, inferior orbital wall, and malar height-using 3-month postoperative computed tomography images and performed statistical analyses to compare the results of the two methods. RESULTS: All three measurements (zygomaticofrontal suture, inferior orbital wall, and malar height) showed significant differences (p < 0.05) between one-point and two-point fixation. Highly significant differences were found for the zygomaticofrontal suture and malar height parameters. The difference in the inferior wall measurements was less meaningful, even though it also reached statistical significance. CONCLUSION: Using three parameters in a statistical analysis of imaging findings, this study demonstrated significant differences in treatment outcomes according to the number of fixations. The results indicate that bone alignment and continuity can be achieved to a greater extent by two-point fixation instead of one-point fixation.

11.
Allergy Asthma Proc ; 43(5): e25-e30, 2022 09 25.
Article in English | MEDLINE | ID: mdl-35879023

ABSTRACT

Background: In Korea, the number of households with indoor pets is rapidly increasing in parallel with changes in cultural lifestyles. The sensitization rate of pet allergens is also increasing in Korea. Objective: We evaluated the effectiveness of washing machines to remove dog and cat hair and their allergens. In addition, this study aimed to investigate whether only a mechanical dryer without mechanical washing could be used for pet allergen removal. Method: We brushed cats and dogs, and thereafter collected their hair and used a residential vacuum cleaner to obtain dust and other particulate matter from a household. The contents of the vacuum bag were sifted through a 300-µm sieve filter. Some of the contents were placed in phosphate-buffered saline solution with 0.5% Tween 20 to make a liquid extract. Hair, dust, and liquid extract-contaminated fabric samples after mechanical washing or after drying without mechanical washing were analyzed for pet allergens (Fel d l [cat], Can f 1 [dog]) by using a two-site enzyme-linked immunosorbent assay. We assessed the remaining allergens in the contaminated fabrics after mechanical drying and washing. Results: The mean Fel d l and mean Can f 1 removal ratios after mechanical washing with detergent were > 99.99% for the dust, hair, and liquid extract. The removal ratios after mechanical washing without a detergent were lower for both Fel d 1 and Can f 1, for hair, dust, and their respective liquid extracts (p < 0.05). Mechanical drying was just as effective as mechanical washing with detergent for removing Can f 1 but was less effective for Fel d 1 (p < 0.05). Conclusion: Mechanical washing with detergent is important to remove pet allergens from contaminated fabrics. If washing is difficult, then using just a dryer without washing can be an alternative method to remove allergens from contaminated bedding or clothing.


Subject(s)
Cat Diseases , Dog Diseases , Allergens , Animals , Cats , Detergents , Dogs , Dust , Glycoproteins , Humans
13.
Sci Rep ; 12(1): 10252, 2022 06 17.
Article in English | MEDLINE | ID: mdl-35715479

ABSTRACT

This study analyzed the effect of parental supervision of infants at age 4 to 6 months on injuries at age 4 to 12 months. Among all Korean children born during 2008-2009, 464,326 (50.6%) infant had parents who responded to a questionnaire that surveyed their safety and supervision when infant were 4 to 6 months-old. Based on questionnaire score, infant were divided into "safe" or "unsafe" group. 1:1 propensity score matching was used to balance the groups, and injury diagnosis and treatments were analyzed. After matching, we examined the records of 405,862 infant. The unsafe group had significantly increased risk ratios (RRs) for injury of head/neck (RR: 1.06), trunk/abdominopelvic region (RR: 1.12), upper extremities (RR: 1.04), and from burn and frostbite (RR: 1.10). The risks of a wound and fracture and foreign body injury were significantly greater in infant whose parents sometimes left them alone (RR: 1.15 and 1.06, respectively), and whose parents did not always keep their eyes on them (RR: 1.04 and 1.13, respectively). Infant whose parents had a hot drink when carrying them had an increased risk of burn injuries (RR: 1.21). Injuries were less common in infant whose parents provided more supervision.


Subject(s)
Burns , Parents , Child , Humans , Infant
14.
Allergy Asthma Immunol Res ; 14(3): 289-299, 2022 May.
Article in English | MEDLINE | ID: mdl-35557494

ABSTRACT

PURPOSE: Concerns about the spread of infectious diseases have increased due to the coronavirus disease pandemic. Knowing the factors that exacerbate or increase the contagiousness of a virus could be a key to pandemic prevention. Therefore, we investigated whether the pandemic potential of infectious diseases correlates with the concentration of atmospheric substances. We also investigated whether environmental deterioration causes an increase in viral infections. METHODS: Pediatric patients (0-18 years old; n = 6,223) were recruited from those hospitalized for aggravated respiratory symptoms at Hanyang University Guri Hospital between January 1, 2015 and December 31, 2019. The number of viral infections was defined as the total number of virus-infected patients hospitalized for respiratory symptoms. We analyzed the association between the number of viral infections/week and the average concentrations of atmospheric substances including particulate matter (PM)10, PM2.5, O3, NO2, CO, SO2, and allergenic pollen) for that week. The cross-correlation coefficient between the weekly measures of pollens and viral infections was checked to determine which time point had the most influence. The association of atmospheric substances in that time, with the number of viral infections/week was investigated using multiple linear regression analysis to identify factors with the greatest influence. RESULTS: In spring the tree pollen average concentration one week earlier (t-1) had the greatest correlation with the average virus infection of a given week (t) (ρXY (h) =0.5210). The number of viral infections showed a statistically significant correlation with especially tree pollen concentration of 1 week prior (adj R²=0.2280). O3 concentration was correlated to the number of viral infections within that week (adj R²=0.2552) in spring, and weed pollen and CO concentration correlated (adj R²=0.1327) in autumn. CONCLUSIONS: Seasonal co-exposure to air pollutants and allergenic pollens may enhance respiratory viral infection susceptibility in children. Therefore, reducing the concentrations of air pollutants and pollens may help prevent future epidemics.

15.
J Clin Med ; 11(2)2022 Jan 08.
Article in English | MEDLINE | ID: mdl-35054002

ABSTRACT

Mycoplasma pneumoniae is a major causative pathogen of community-acquired pneumonia in children, and the treatment of choice is macrolides. There is an increasing trend in reports of refractory clinical responses despite macrolide treatment due to the emergence of macrolide-resistant M. pneumoniae. Early discrimination of macrolide-refractory M. pneumoniae pneumonia (MrMP) from macrolide-sensitive M. pneumoniae pneumonia (MSMP) is vital; however, testing for macrolide susceptibility at the time of admission is not feasible. This study aimed to identify the characteristics of MrMP in Korean children, in comparison with those of MSMP. In this multicenter study, board-certified pediatric pulmonologists at 22 tertiary hospitals reviewed the medical records from 2010 to 2015 of 5294 children who were hospitalized with M. pneumoniae pneumonia and administered macrolides as the initial treatment. One-way analysis of variance and the Kruskal-Wallis test were used to compare differences between groups. Of 5294 patients (mean age, 5.6 years) included in this analysis, 240 (4.5%), 925 (17.5%), and 4129 (78.0%) had MrMP, macrolide-less effective M. pneumoniae pneumonia, and MSMP, respectively. Compared with the MSMP group, the MrMP group had a longer fever duration, overall (13.0 days) and after macrolide use (8.0 days). A higher proportion of MrMP patients had respiratory distress, pleural effusion, and lobar pneumonia. The mean aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and C-reactive protein levels were the highest in the MrMP group, along with higher incidences of extrapulmonary manifestations and atelectasis (during and post infection). Pre-existing conditions were present in 17.4% (n = 725/4159) of patients, with asthma being the most common (n = 334/4811, 6.9%). This study verified that MrMP patients show more severe initial radiographic findings and clinical courses than MSMP patients. MrMP should be promptly managed by agents other than macrolides.

16.
Front Pediatr ; 9: 651375, 2021.
Article in English | MEDLINE | ID: mdl-34169047

ABSTRACT

Background and Objectives: Anaphylaxis, a severe allergic disease, can be triggered by various causes. This study investigated the association between allergic sensitization and anaphylactic symptoms and the severity of anaphylaxis in children. Patients and Methods: A retrospective review of 107 pediatric patients with anaphylaxis was performed between January 1, 2015, and December 31, 2017; 74 patients underwent allergen testing for specific immunoglobulin E. Allergic sensitizations and associations with anaphylactic symptoms and severity were investigated. Results: Overall, 64 (86.5%) patients were sensitized to food or inhalant allergens. In children under 2 years of age, 90.5% were sensitized to food (P = 0.001); in those over 6 years of age, 84.6% were sensitized to inhalant allergens (P = 0.001). Milk sensitization was significantly associated with severe anaphylaxis (P = 0.036). The following symptoms showed significant associations with certain allergen sensitizations: facial edema with food; wheezing with milk; dyspnea with mite, etc. Certain allergen sensitizations presenting as risk factors for anaphylactic symptoms: wheat (adjusted odds ratio [aOR] = 4.644, P = 0.044) and nuts (aOR=3.614, P = 0.041) for wheezing, nuts (aOR=5.201, P = 0.026) for dyspnea, and milk (aOR=4.712, P = 0.048) for vomiting. Conclusion: The allergen sensitization status differed according to the age of the children experiencing anaphylaxis. The severity, symptoms, and signs of anaphylaxis differed depending on the allergen sensitization status.

17.
Mol Genet Genomic Med ; 9(6): e1678, 2021 06.
Article in English | MEDLINE | ID: mdl-33825325

ABSTRACT

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelinating, axonal, and intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane protein of the Schwann cells as a major component of peripheral myelin have been reported to cause various type of CMT. METHODS: This study screened MPZ mutations in Korean CMT patients (1,121 families) by whole exome sequencing and targeted sequencing. RESULTS: We identified 22 pathogenic or likely pathogenic MPZ mutations in 36 families as the underlying cause of the CMT1B, CMTDID, or CMT2I subtypes. Among them, five mutations were novel. The frequency of CMT patients with the MPZ mutations was similar or slightly lower compared to other ethnic groups. CONCLUSIONS: We showed that the median onset ages and clinical phenotypes varied by subtypes: the most severe in the CMT1B group, and the mildest in the CMT2I group. This study also observed a clear correlation that earlier onsets cause more severe symptoms. We believe that this study will provide useful reference data for genetic and clinical information on CMT patients with MPZ mutations in Korea.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Myelin P0 Protein/genetics , Phenotype , Adolescent , Adult , Charcot-Marie-Tooth Disease/pathology , Female , Humans , Male , Mutation , Republic of Korea
18.
Mol Cells ; 44(2): 79-87, 2021 Feb 28.
Article in English | MEDLINE | ID: mdl-33658433

ABSTRACT

Chromatin dynamics is essential for maintaining genomic integrity and regulating gene expression. Conserved bromodomain-containing AAA+ ATPases play important roles in nucleosome organization as histone chaperones. Recently, the high-resolution cryo-electron microscopy structures of Schizosaccharomyces pombe Abo1 revealed that it forms a hexameric ring and undergoes a conformational change upon ATP hydrolysis. In addition, single-molecule imaging demonstrated that Abo1 loads H3-H4 histones onto DNA in an ATP hydrolysis-dependent manner. However, the molecular mechanism by which Abo1 loads histones remains unknown. Here, we investigated the details concerning Abo1-mediated histone loading onto DNA and the Abo1- DNA interaction using single-molecule imaging techniques and biochemical assays. We show that Abo1 does not load H2A-H2B histones. Interestingly, Abo1 deposits multiple copies of H3-H4 histones as the DNA length increases and requires at least 80 bp DNA. Unexpectedly, Abo1 weakly binds DNA regardless of ATP, and neither histone nor DNA stimulates the ATP hydrolysis activity of Abo1. Based on our results, we propose an allosteric communication model in which the ATP hydrolysis of Abo1 changes the configuration of histones to facilitate their deposition onto DNA.


Subject(s)
ATPases Associated with Diverse Cellular Activities/metabolism , Histones/metabolism , Schizosaccharomyces pombe Proteins/metabolism , Schizosaccharomyces/metabolism , Single Molecule Imaging , DNA, Fungal/metabolism , Photobleaching , Protein Binding , Protein Multimerization
19.
Pediatr Allergy Immunol ; 32(5): 872-879, 2021 07.
Article in English | MEDLINE | ID: mdl-33583098

ABSTRACT

INTRODUCTION: Children with allergies are at greater risk of becoming sensitized to allergenic pollens in response to environmental changes. This study investigated the relationship between changes in pollination associated with meteorologic changes and the sensitization rates of children to tree pollen allergens in the metropolitan area of Seoul, Korea. METHODS: The study population consisted of 8,295 children who visited the pediatric allergy clinics at Hanyang University Seoul and Guri Hospital for allergy symptoms between January 1, 1998, and December 31, 2019. Pollen was collected at the two hospitals during the study using a Burkard 7-day sampler. Meteorologic data were obtained from the National Weather Service. RESULTS: Among the major tree pollens, the largest increase in allergic sensitization was to oak, hazel, and alder pollens (0.28% annually). The pollen-sensitization rates increased annually within younger age groups. The duration of the pollen season was 98 days in 1998 and 140 days in 2019. Positive correlations were determined between the duration of the pollen season and the rates of sensitization to tree pollens, as well as between the pollen-sensitization rates and increasing temperature. CONCLUSIONS: This study demonstrated the correlation between weather changes and the resulting changes in the pollen season with sensitization rates to allergenic pollens in children living in the Seoul metropolitan area. An annual increase in sensitization rates in younger children was determined. This pattern is expected to continue due to continuing climate change.


Subject(s)
Hypersensitivity , Trees , Adolescent , Allergens , Child , Humans , Hypersensitivity/epidemiology , Pollen , Republic of Korea/epidemiology , Seasons , Seoul/epidemiology
20.
J Clin Neurol ; 17(1): 52-62, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33480199

ABSTRACT

BACKGROUND AND PURPOSE: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations are very rare in most countries, but not in certain Mediterranean countries. The purpose of this study was to identify the clinical and neuroimaging characteristics of Korean CMT patients with GDAP1 mutations. METHODS: Gene sequencing was applied to 1,143 families in whom CMT had been diagnosed from 2005 to 2020. PMP22 duplication was found in 344 families, and whole-exome sequencing was performed in 699 patients. Magnetic resonance imaging (MRI) were obtained using either a 1.5-T or 3.0-T MRI system. RESULTS: We found ten patients from eight families with GDAP1 mutations: five with autosomal dominant (AD) CMT type 2K (three families with p.R120W and two families with p.Q218E) and three with autosomal recessive (AR) intermediate CMT type A (two families with homozygous p.H256R and one family with p.P111H and p.V219G mutations). The frequency was about 1.0% exclusive of the PMP22 duplication, which is similar to that in other Asian countries. There were clinical differences among AD GDAP1 patients according to mutation sites. Surprisingly, fat infiltrations evident in lower-limb MRI differed between AD and AR patients. The posterior-compartment muscles in the calf were affected early and predominantly in AD patients, whereas AR patients showed fat infiltration predominantly in the anterolateral-compartment muscles. CONCLUSIONS: This is the first cohort report on Korean patients with GDAP1 mutations. The patients with AD and AR inheritance routes exhibited different clinical and neuroimaging features in the lower extremities. We believe that these results will help to expand the knowledge of the clinical, genetic, and neuroimaging features of CMT.

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