Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14.

The diagnosis of Alzheimer's disease (AD) is still obscure even to specialists. To improve the diagnostic accuracy, to find at-risk people as early as possible, to predict the efficacy or adverse reactions of pharmacotherapy on an individual basis, to attain more reliable results of clinical trials by recruiting better defined participants, to prove the disease-modifying ability of new candidate drugs, to establish prognosis-based therapeutic plans, and to do more, is now increasing the need for biomarkers for AD. Among AD-related biochemical markers, cerebrospinal beta-amyloid and tau have been paid the most attention since they are materials directly interfacing the brain interstitium and can be obtained through the lumbar puncture. Level of beta-amyloid is reduced whereas tau is increased in cerebrospinal fluid of AD patients relative to cognitively normal elderly people. Remarkably, such information has been found to help predict AD conversion of mild cognitive impairment. Despite inconsistent findings from previous studies, plasma beta-amyloid is thought to be increased before the disease onset, but show decreasing change as the disease progress. Regarding other peripheral biochemical markers, omics tools are being widely used not only to find useful biomarkers but also to generate novel hypotheses for AD pathogenesis and to lead new personalized future medicine.
Aged ; Alzheimer Disease ; Biomarkers ; Brain ; Humans ; Mild Cognitive Impairment ; Plasma ; Specialization ; Spinal Puncture

Purpose: We aimed to investigate the relationship between the tri-ponderal mass index (TMI), a new indirect measure of fat mass, and insulin-like growth factor (IGF)-I/IGF binding protein (IGFBP)-3. Methods: The study included 1,630 children and adolescents who visited Jeonbuk National University Children's Hospital. Each patient’s medical record was retrospectively reviewed for age, sex, height, weight, body mass index (BMI), TMI, and IGF-1 and IGFBP-3 levels. Study participants were divided by sex and then categorized by age, BMI, and TMI. Finally, the correlations of TMI with IGF-1 level, IGF-1 standard deviation score (SDS), IGFBP-3 level, IGFBP-3 SDS, and IGF-1/IGFBP-3 ratio were investigated. Results: All participants were <19 years of age. BMI correlated with IGF-1 and IGFBP-3 levels in both sexes; however, the relationship with TMI differed by sex. TMI correlated with IGF-1 and IGFBP-3 SDS in boys and with IGF-1, IGFBP-3, and IGFBP-3 SDS in girls across all ages. In boys, BMI and TMI significantly correlated with IGF-1, IGF-1 SDS, IGFBP-3, IGFBP-3 SDS, and the IGF-1/IGFBP-3 ratio in the normal-weight group. TMI also correlated with IGF-1, IGFBP-3, and IGFBP-3 SDS in the overweight group. In girls, BMI significantly correlated with IGF-1, IGF-1 SDS, IGFBP-3, IGFBP-3 SDS, and the IGF-1/IGFBP-3 ratio in the normal-weight group and with IGFBP-3 and IGFBP-3 SDS in the overweight group, while TMI correlated with IGF-1, IGF-1 SDS, and the IGF-1/IGFBP-3 ratio in the normal-weight group; with IGF-1, IGFBP-3, and IGFBP-3 SDS in the overweight group; and with IGFBP-3 SDS in the obese group. Conclusion TMI may more strongly correlate with IGFBP-3 level than BMI in overweight boys and with IGFBP-3 SDS in overweight and obese girls. The correlation of IGFBP-3 SDS with TMI may be helpful for evaluating weight status in adolescent girls.

BACKGROUND: Prostatitis, one of the most common diseases of the prostate, is a complex disease with various clinical features. This study aims to analyze the utilization and prescribing patterns of antibiotics in Korean patients with prostatitis between 2008 and 2015. METHODS: We used the National Health Insurance Database complied from the Health Insurance Review and Assessment Service (HIRA). The outcomes included the number of claims, number of patients, medical cost, and length of stay for each year. In addition, the prescribing patterns of antibiotics, including fluoroquinolone, and low-dose use of ciprofloxacin and levofloxacin were investigated. RESULTS: The total number of patients and medical cost increased by 9.5% and 51.7% from 2008 to 2015, respectively. Most prostatitis patients were classified as chronic prostatitis patients. The prescribing proportion of antibiotics for chronic prostatitis outpatients decreased from 71.0% to 66.9% from 2008 to 2015, and fluoroquinolone accounted for more than half of the total antibiotics. Over 80% of prescription of levofloxacin and ciprofloxacin was identified to be for low-dose use. CONCLUSION: Most of the patients with prostatitis experienced pain relief and condition improvement after antibiotic treatment; however, chronic prostatitis and chronic pelvic pain syndrome recur easily. Therefore, active disease management and further studies are needed to enhance our understanding of effective treatment for prostatitis.
Anti-Bacterial Agents* ; Ciprofloxacin ; Disease Management ; Humans ; Insurance, Health ; Korea* ; Length of Stay ; Levofloxacin ; National Health Programs ; Outpatients ; Pelvic Pain ; Prescriptions ; Prostate ; Prostatitis*

In an effort to improve the blood safety management system, Korea Centers for Disease Control and Prevention visited the national agencies and blood centers of foreign countries. In Japan, the management system for Human T-lymphotropic virus positive donors is operated. In Germany, Red Cross Blood Centers provide 75~80% of national blood consumption, and hospital blood centers provided 15~20%. In addition, the Paul Ehrlich Institut is engaged in blood center management and blood product safety, and the Robert Koch Institut manages transfusion-transmitted infection. The standard temperature of RBC transport is 1~10degrees C. In Austria, haemovigilance is operated by the National Blood Authority and adverse reactions following transfusion are investigated by Blood Centers. In Britain, blood is provided by National Health Service Blood and Transplant, and the Serious Hazards of Transfusion, haemovigilance system is operated. Universal leukoreduction has been performed since 1999 in order to prevent transmission of variant Creutzfeldt-Jakob disease.
Austria ; Blood Safety* ; Centers for Disease Control and Prevention (U.S.) ; Creutzfeldt-Jakob Syndrome ; Germany ; Humans ; Japan ; Korea ; National Health Programs ; Red Cross ; Tissue Donors ; Viruses

No abstract available.

Abnormal aggregation of α-synuclein is a key element in the pathogenesis of several neurodegenerative diseases, including Parkinson’s disease (PD), dementia with Lewy bodies, and multiple system atrophy. α-synuclein aggregation spreads through various brain regions during the course of disease progression, a propagation that is thought to be mediated by the secretion and subsequent uptake of extracellular α-synuclein aggregates between neuronal cells. Thus, aggregated forms of this protein have emerged as promising targets for disease-modifying therapy for PD and related diseases. Here, we generated and characterized conformation-specific antibodies that preferentially recognize aggregated forms of α-synuclein. These antibodies promoted phagocytosis of extracellular α-synuclein aggregates by microglial cells and interfered with cell-to-cell propagation of α-synuclein. In an α-synuclein transgenic model, passive immunization with aggregate-specific antibodies significantly ameliorated pathological phenotypes, reducing α-synuclein aggregation, gliosis, inflammation, and neuronal loss. These results suggest that conformation-specific antibodies targeting α-synuclein aggregates are promising therapeutic agents for PD and related synucleinopathies.

Background: Although coronavirus disease 2019 (COVID-19) is a viral infection, antibiotics are often prescribed due to concerns about accompanying bacterial infection. Therefore, we aimed to analyze the number of patients with COVID-19 who received antibiotic prescriptions, as well as factors that influenced antibiotics prescription, using the National Health Insurance System database. Methods: We retrospectively reviewed claims data for adults aged ≥ 19 years hospitalized for COVID-19 from December 1, 2019 to December 31, 2020. According to the National Institutes of Health guidelines for severity classification, we calculated the proportion of patients who received antibiotics and the number of days of therapy per 1,000 patient-days. Factors contributing to antibiotic use were determined using linear regression analysis. In addition, antibiotic prescription data for patients with influenza hospitalized from 2018 to 2021 were compared with those for patients with COVID-19, using an integrated database from Korea Disease Control and Prevention Agency-COVID19-National Health Insurance Service cohort (K-COV-N cohort), which was partially adjusted and obtained from October 2020 to December 2021. Results: Of the 55,228 patients, 46.6% were males, 55.9% were aged ≥ 50 years, and most patients (88.7%) had no underlying diseases. The majority (84.3%; n = 46,576) were classified as having mild-to-moderate illness, with 11.2% (n = 6,168) and 4.5% (n = 2,484) having severe and critical illness, respectively. Antibiotics were prescribed to 27.3% (n = 15,081) of the total study population, and to 73.8%, 87.6%, and 17.9% of patients with severe, critical, and mild-to-moderate illness, respectively. Fluoroquinolones were the most commonly prescribed antibiotics (15.1%; n = 8,348), followed by third-generation cephalosporins (10.4%; n = 5,729) and beta-lactam/beta-lactamase inhibitors (6.9%; n = 3,822). Older age, COVID-19 severity, and underlying medical conditions contributed significantly to antibiotic prescription requirement. The antibiotic use rate was higher in the influenza group (57.1%) than in the total COVID-19 patient group (21.2%), and higher in severe-to-critical COVID-19 cases (66.6%) than in influenza cases. Conclusion Although most patients with COVID-19 had mild to moderate illness, more than a quarter were prescribed antibiotics. Judicious use of antibiotics is necessary for patients with COVID-19, considering the severity of disease and risk of bacterial co-infection.

Background: The coronavirus disease 2019 (COVID-19) pandemic is an emerging threat worldwide. It remains unclear how comorbidities affect the risk of infection and severity of COVID-19. Methods: This is a nationwide retrospective case-control study of 219,961 individuals, aged 18 years or older, whose medical costs for COVID-19 testing were claimed until May 15, 2020. COVID-19 diagnosis and infection severity were identified from reimbursement data using diagnosis codes and on the basis of respiratory support use, respectively. Odds ratios (ORs) were estimated using multiple logistic regression, after adjusting for age, sex, region, healthcare utilization, and insurance status. Results: The COVID-19 group (7,341 of 219,961) was young and had a high proportion of female. Overall, 13.0% (954 of 7,341) of the cases were severe. The severe COVID-19 group had older patients and a proportion of male ratio than did the non-severe group. Diabetes (odds ratio range [ORR], 1.206–1.254), osteoporosis (ORR, 1.128–1.157), rheumatoid arthritis (ORR, 1.207–1.244), substance use (ORR, 1.321–1.381), and schizophrenia (ORR, 1.614–1.721) showed significant association with COVID-19. In terms of severity, diabetes (OR, 1.247; 95% confidential interval, 1.009–1.543), hypertension (ORR, 1.245–1.317), chronic lower respiratory disease (ORR, 1.216–1.233), chronic renal failure, and end-stage renal disease (ORR, 2.052–2.178) were associated with severe COVID-19. Conclusion We identified several comorbidities associated with COVID-19. Health care workers should be more careful while diagnosing and treating COVID-19 when patients have the abovementioned comorbidities.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.