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1.
Tissue Engineering and Regenerative Medicine ; (6): 939-950, 2023.
Article in English | WPRIM | ID: wpr-1003176

ABSTRACT

BACKGROUND@#A protocol for using human endometrium derived induced pluripotent stem cells (iPSCs) to derive hematopoietic and erythroid lineages will be elaborated, through a two-phase culture system. @*METHODS@#Discarded endometrial tissues were obtained from women receiving hysterectomy in their 4th to 5th decade due to benign uterine conditions. pCE-Sox2, Oct4, Klf4, L-Myc and Lin28 episomal vectors were used to electrotransfect the endometrial stromal cells. The first 8 days involves commitment to hematopoietic stem cells through embryoid body with robust expansion on murine bone marrow stromal cells. The second phase involves feeder free conditions with hydrocortisone, stem cell factor, interleukin-3, and recombinant EPO. After 22 days of feeder free culture, the expression profiles of CD235a+ , CD34+ , CD43+ and CD 71+ were analyzed by flow cytometry and Wright-Giemsa staining for differential counting. The oxygen carrying capacity of cultured RBCs was measured using a hemoxanalyser. @*RESULTS@#As a result of inducing these cells via co-culture with murine stromal fibroblasts, all endometrium derived iPSCs were differentiated into erythroblasts with a stable yield of approximately 80% for polychromatic and orthochromatic normoblasts. The protocol for complete induction of erythroid lineage cells starting from human endometrial tissue via iPS cells has been optimized. @*CONCLUSION@#Successful directed erythroid differentiation has occurred from human endometrium-derived iPS cells. A comprehensive process of actually deriving iPS cells using discarded surgical hysterectomy specimens to the erythroid fate has significance in that the scope of using human iPSC cell lines for tissue regeneration could be expanded in the future.

2.
The Korean Journal of Internal Medicine ; : 651-660, 2023.
Article in English | WPRIM | ID: wpr-1003065

ABSTRACT

Background/Aims@#Recently, 1 L of polyethylene glycol (PEG) plus ascorbic acid (Asc) has been introduced in Korea as a colonoscopy preparation agent. Data on its efficacy and safety in older adults have been limited. We aimed to evaluate the safety and efficacy of 1 L PEG/Asc in older adults by comparing it with oral sulfate solution (OSS). @*Methods@#A prospective multicenter randomized study was conducted with subjects aged ≥ 65 years who underwent colonoscopy. The participants were randomized to receive 1 L PEG/Asc or OSS. The primary endpoint was successful bowel preparation, defined as total Boston Bowel Preparation Scale ≥ 6, and ≥ 2 at each segment. Patient satisfaction, adverse events, and renal function changes were compared between the groups. @*Results@#Among the 106 patients, 104 were finally included in the analysis. Overall, successful bowel preparation was achieved in 96.2% of both 1 L PEG/Asc and OSS groups. The satisfaction scores for taste, total amount ingested, overall feeling, and willingness to repeat the same regimen were not significantly different between the groups. Adverse events of moderate or higher severity occurred in 16 and 10 cases in the 1 L PEG/Asc and OSS group, respectively. There were no significant changes in electrolyte levels or renal function from baseline. @*Conclusions@#The successful bowel preparation rate was > 90% in both groups without severe adverse effects and significant changes in renal function. As a new low-dose preparation regimen for colonoscopy in older adults, 1 L PEG/Asc, is as effective and safe as OSS.

3.
Intestinal Research ; : 363-374, 2023.
Article in English | WPRIM | ID: wpr-1000586

ABSTRACT

Background/Aims@#Long-term immunosuppressive therapies used to treat inflammatory bowel disease (IBD) are associated with an increased risk of infections, many of which can be prevented by vaccination. We assessed physicians’ current approaches and clinical practices regarding vaccinations for IBD patients in different Asian countries/regions. @*Methods@#An internet-based survey was conducted among members of the Asian Organization for Crohn’s and Colitis from September 2020 to November 2020. The questionnaire consisted of 2 parts covering general opinion on the relevance of vaccinations and clinical practice of vaccination. @*Results@#Overall, 384 Asian medical doctors responded to the survey. The majority of respondents considered it very (57.6%) or sufficiently (39.6%) important to perform vaccinations as recommended by the guidelines. About half of the Asian physicians (52.6%) were usually or always performing vaccinations. The influenza vaccine was the most frequently recommended vaccine for IBD patients. Half of the respondents (51.3%) did not recommend hepatitis A vaccine, especially in China (61.6%) and Japan (93.6%). The diphtheria, tetanus, and pertussis vaccine were never (35.2%) or rarely (29.4%) recommended. @*Conclusions@#The findings of this survey indicated similarities among countries/regions in terms of the current approaches and practices regarding vaccination of IBD patients; however, there are some differences that might reflect each country’s domestic vaccination guidelines and health insurance particularly with certain vaccines in some countries/regions. Although Asian physicians largely recommend vaccination, more awareness among doctors and Asian consensus regarding differences in IBD vaccination among countries/regions may be required.

4.
The Korean Journal of Internal Medicine ; : 338-348, 2023.
Article in English | WPRIM | ID: wpr-977396

ABSTRACT

Background/Aims@#Chronic hepatitis C (CHC) is the second leading cause of liver-related mortality and is more prevalent in the elderly population in Korea. Decisions to initiate treatment and selection of proper antiviral agents may be challenging among elderly patients due to relevant comorbidities, comedications, and drug-drug interaction (DDI). It may be helpful to understand the current demographic status and comorbidities of CHC patients in the country. @*Methods@#Patients aged ≥ 18 years and diagnosed with CHC (KCD-7 code B18.2) were extracted from the Korean Health Insurance Review & Assessment Service database in 2018. Data on comorbidities and comedications were assessed and potential DDIs were analyzed. @*Results@#A total of 50,476 patients with CHC, with a mean age of 60.3 years and 46.7% male patients were identified. The proportion of patients with cirrhosis, hepatocellular carcinoma, and liver transplantation was 6.0%, 4.1%, and 0.3%, respectively and 37.2% of patients were more than 65 years of age. The three most common comorbidities were diseases of the digestive system (83.7%), respiratory system (58.2%), and musculoskeletal system and connective tissue (57.6%). The three most common comedications were analgesics (91.6%), gastrointestinal agents (85%), and antibacterials (80.3%). Lipid-lowering agents and anticonvulsants were prescribed in 28.5% and 14.8% of patients. Rate of potential DDI for contraindication was 2.2%, 13.1%, and 15.6% with sofosbuvir/velpatasvir, ledipasvir/sofosbuvir, and glecaprevir/pibrentasvir. @*Conclusions@#With the increasing age of patients with CHC, comorbidity, comedication, and potential DDI should be considered when choosing antivirals in Korea. Sofosbuvir-based regimens showed favorable DDI profiles among Korean patients.

5.
Korean Journal of Blood Transfusion ; : 1-11, 2023.
Article in English | WPRIM | ID: wpr-977191

ABSTRACT

Background@#The study aimed to review the initiatives and activities of the Korean Blood Safety Project Group (KBSPG) from 2012 to 2021 to present its work domestically and internationally, and to set up future directions for the KBSPG. @*Methods@#Details of the KBSPG’s projects were organized by task. This project was supported by the Korean Ministry of Health and Welfare. The final annual reports and data posted on the website of the KBSPG were used for analysis. @*Results@#The KBSPG completed 14 tasks, including training and sharing of the latest information with workers of blood centers and transfusion services in medical institutes, external proficiency surveys for donor blood screening tests, and maintenance of a national registration system. The results of these tasks have contributed to the fulfillment of work of the relevant national departments, the establishment and operation of related websites, the publication of annual reports, the implementation of workshops and training programs, the operation of regional networks for blood transfusion management, and the production and distribution of information leaflets and training videos.Additionally, the KBSPG has developed and revised guidelines and standards and published related papers. @*Conclusion@#The KBSPG’s continuous efforts improved the quality of blood centers and transfusion services in medical institutes, thus contributing to the national blood management services. To further improve blood management work and ensure blood safety, the KBSPG must expand its scope and continue to pursue its important mission. (Korean J Blood Transfus 2023;34:1-11)

6.
Annals of Dermatology ; : S34-S37, 2023.
Article in English | WPRIM | ID: wpr-976682

ABSTRACT

Palisaded neutrophilic and granulomatous dermatitis (PNGD) is an inflammatory dermatosis associated with systemic immune-mediated diseases such as rheumatoid arthritis, systemic sclerosis, lupus erythematosus, and ulcerative colitis. Histologically, serial development of leukocytoclastic vasculitis is shown from an early stage, which can progress to palisading granuloma in the fully developed stage and to fibrosis in the final stage. A 32-yearold man presented with ankylosing spondylitis showing multiple erythematous papules on his fingers, elbows, knees, and left auricle. Histologic examination from his skin lesion revealed a perforating palisading granuloma with leukocytoclastic vasculitis, which was consistent with PNGD. Therefore, this study reported a case of PNGD accompanied by ankylosing spondylitis as an initial presentation.

7.
Yonsei Medical Journal ; : 213-220, 2023.
Article in English | WPRIM | ID: wpr-968896

ABSTRACT

Purpose@#The purpose of this study was to compare patients who had undergone spine surgery (SS) and hip arthroplasty surgery (HAS) and to analyze how medical policies drawn from “The Evaluation of the Appropriate Use of Prophylactic Antibiotics” have affected length of hospital stay (LOS), direct medical costs (DMC), and the duration of antibiotics use in Korea. @*Materials and Methods@#This retrospective nationwide study identified subjects from the Korean National Health Insurance Review and Assessment Service database from January, 2011 to December, 2018. Evaluation of HAS (control group) was implemented in 2007, and that for SS (case group) was conducted for the first time in 2014 (intervention time). In our comparative interrupted time series analysis, we compared DMC, LOS, and use of antibiotics between both groups. @*Results@#177468 patients who underwent SS and 89372 patients who underwent HAS were included in the study. In 2016, DMC increased for HAS, compared to SS, by 1.03 times (p=0.041). However, cost changes during other observational periods for SS were not higher than those for HAS (p>0.05). SS incurred a reduced LOS of 3% in the first 2 years (p<0.05). Thereafter, LOS changes in SS were not smaller than those in HAS. A decrease in the usage of total antibiotics and broad spectrum antibiotics was observed for 5 years. @*Conclusion@#This medical policy was effective in terms of reducing usage and duration of antibiotics use, especially in the first 2 years after the implementation of the policy.

8.
The Korean Journal of Internal Medicine ; : 176-185, 2023.
Article in English | WPRIM | ID: wpr-968753

ABSTRACT

Background/Aims@#There have been little research on the cancer risks of patients with Peutz-Jeghers syndrome (PJS) in Korea. We aimed to investigate the clinical features of PJS patients and their cancer incidence rate. @*Methods@#Patients with PJS from nine medical centers were enrolled. In those patients diagnosed with cancer, data obtained included the date of cancer diagnosis, the tumor location, and the cancer stage. The cumulative risks of gastrointestinal cancers and extra-gastrointestinal cancers were calculated using the Kaplan-Meier method. @*Results@#A total of 96 PJS patients were included. The median age at diagnosis of PJS was 23.4 years. Cancer developed in 21 of the 96 patients (21.9%). The age of PJS diagnosis was widely distributed (0.9 to 72.4 years). The most common cancers were gastrointestinal cancer (n = 12) followed by breast cancer (n = 6). The cumulative lifetime cancer risk was calculated to be 62.1% at age 60. The cumulative lifetime gastrointestinal cancer risk was 47.1% at age 70. The cumulative lifetime extra- gastrointestinal cancer risk was 40.3% at age 60. @*Conclusions@#PJS onset may occur at any age and the risks of gastrointestinal and extra-gastrointestinal cancer are high. Thorough surveillance of PJS patients for malignancies is vital.

9.
Journal of the Korean Society of Maternal and Child Health ; : 14-23, 2023.
Article in Korean | WPRIM | ID: wpr-967900

ABSTRACT

Purpose@#This study examined the mediating effects of depression on the relationship between peer relationships and problematic smartphone use in female adolescents. @*Methods@#Secondary analysis was performed on data from the Korean Children and Youth Panel Survey in 2018, a national survey conducted by Korea’s National Youth Policy Institute. Data from 1,141 female adolescents were analyzed using descriptive statistics, with independent t-test and 1-way analysis of variance, Pearson correlation coefficient, and multiple linear regression analysis. The significance of the mediating effect was verified using PROCESS macro model 4. @*Results@#The direct effects of both positive and negative peer relationships increased problematic smartphone use in female adolescents. Negative peer relationships increased problematic smartphone use via the mediating effects of depression, whereas positive peer relationships reduced problematic smartphone use via the mediating effects of depression. @*Conclusion@#Problematic smartphone use among female adolescents can be reduced by lowering the incidence of depression and developing interventions aimed at helping them resolve conflicts with friends and cope with negative emotions.

10.
Journal of the Korean Neurological Association ; : 18-30, 2023.
Article in Korean | WPRIM | ID: wpr-967818

ABSTRACT

Background@#Korea recently established 70 emergency medical service areas. However, there are many concerns that medical resources for stroke could not be evenly distributed through the country. We aimed to compare the treatment quality and outcomes of acute stroke among the emergency medical service areas. @*Methods@#This study analyzed the data of 28,800 patients admitted in 248 hospitals which participated in the 8th acute stroke quality assessment by Health Insurance Review and Assessment Service. Individual hospitals were regrouped into emergency service areas according to the address of the location. Assessment indicators and fatality were compared by the service areas. We defined the appropriate hospital by the performance of intravenous thrombolysis. @*Results@#In seven service areas, there were no hospitals which received more than 10 stroke patients for 6 months. In nine service areas, there were no patients who underwent intravenous thrombolysis (IVT). Among 167 designated emergency medical centers, 50 hospitals (29.9%) responded that IVT was impossible 24 hours a day. There are 97 (39.1%) hospitals that meet the definitions of appropriate hospital. In 23 service areas (32.9%) had no appropriate or feasible hospitals. The fatality of service areas with stroke centers were 6.9% within 30 days and 15.6% within 1 year from stroke onset than those without stroke centers (7.7%, 16.9%, respectively). @*Conclusions@#There was a wide regional gap in the medical resource and the quality of treatments for acute stroke among emergency medical service areas in Korea. The poststroke fatality rate of the service areas which have stroke centers or appropriate hospitals were significantly low.

11.
Journal of the Korean Neurological Association ; : 44-47, 2023.
Article in Korean | WPRIM | ID: wpr-967814

ABSTRACT

Vitamin B12 deficiency causes a variety of symptoms in the hematologic, gastrointestinal tract, and neurologic deficit. We report a rare case of progressive gait disturbance, bradykinesia and dysarthria which was that vitamin B12 deficiency was diagnosed as the cause, and symptoms improved after intramuscular cobalamin treatment. Vitamin B12, homocysteine, and methylmalonic acid tests are recommended for patients with progressive gait disturbance, even in the absence of obvious anemia symptoms.

12.
Intestinal Research ; : 43-60, 2023.
Article in English | WPRIM | ID: wpr-967005

ABSTRACT

Crohn’s disease (CD) is a relapsing and progressive condition characterized by diarrhea, abdominal pain, weight loss, and hematochezia that results in serious complications such as perforations, fistulas, and abscesses. Various medications, interventions, and surgical treatments have been used to treat CD. The Korean guidelines for CD management were distributed in 2012 and revised in 2017 by the Inflammatory Bowel Disease (IBD) Research Group of the Korean Association for the Study of Intestinal Diseases. Substantial progress in mucosal immunologic research has elucidated the pathophysiology of IBD, leading to development of biological agents for treatment of CD. The first developed biologic agent, tumor necrosis factor-α agents, were shown to be efficacious in CD, heralding a new era in management of CD. Subsequently, vedolizumab, a monoclonal antibody against integrin α4β7, and ustekinumab, a human monoclonal antibody that inhibits the common p40 subunit of interleukin-12 and interleukin-23, were both approved for clinical use and are efficacious and safe for both induction and maintenance of remission in moderate-to-severe CD patients. Moreover, a recent study showed the non-inferiority of CT-P13, an infliximab biosimilar, compared with infliximab in CD patients. The third Korean guidelines for CD management provide updated information regarding treatment of moderate-to-severe CD patients with biologic agents.

13.
The Korean Journal of Pain ; : 59-65, 2022.
Article in English | WPRIM | ID: wpr-919289

ABSTRACT

Background@#There is still unmet need in treating neuropathic pain and increasing awareness regarding the use of drug combinations to increase the effectiveness of treatment and reduce adverse effects in patients with neuropathic pain. @*Methods@#This study was performed to determine the individual and combined effects of pregabalin, tianeptine, and clopidogrel in a rat model of neuropathic pain.The model was created by ligation of the L5-L6 spinal nerve in male Sprague–Dawley rats; mechanical allodynia was confirmed using von Frey filaments. Drugs were administered to the intrathecal space and mechanical allodynia was assessed; drug interactions were estimated by isobolographic or fixed-dose analyses. @*Results@#Intrathecal pregabalin and tianeptine increased the mechanical withdrawal threshold in a dose-dependent manner, but intrathecal clopidogrel had little effect on the mechanical withdrawal threshold. An additive effect was noted between pregabalin and tianeptine, but not between pregabalin and clopidogrel. @*Conclusions@#These findings suggest that intrathecal coadministration of pregabalin and tianeptine effectively attenuated mechanical allodynia in the rat model of neuropathic pain. Thus, pregabalin plus tianeptine may be a valid option to enhance the efficacy of neuropathic pain treatment.

14.
The Korean Journal of Gastroenterology ; : 4-11, 2022.
Article in English | WPRIM | ID: wpr-918974

ABSTRACT

With emerging more effective drugs, the therapeutic goal of inflammatory bowel disease (IBD) has progressed from clinical remission to mucosal healing. Although the inflammation could be controlled more effectively than before, symptoms such as abdominal pain and bowel habit change is still bothersome to some IBD patients. Recently, these “refractory functional gastrointestinal symptoms” in quiescent IBD patients has been paid more attention. The pathophysiology could be multifactorial with genetics, change in gut motility associated with post inflammatory condition, increased permeability, impaired colorectal function, visceral hypersensitivity and gut microbiota. Because both IBD and functional gastrointestinal disease (FGID) could share similar symptoms and some pathophysiology, it is sometimes challenging to distinguish them exactly. However, to reduce the risk of overtreatment or insufficient control of inflammation, exact diagnosis of functional disease or symptoms in quiescent IBD patients is important. Because there is limited randomized controlled trials or prospective study currently, most of the therapeutic approach in IBD patients are empirical or referred to those of functional gastrointestinal disorders. However, approaches based on pathophysiological mechanisms could give appropriate therapies for both IBD and FGIDs.

15.
Journal of Neurogastroenterology and Motility ; : 28-42, 2022.
Article in English | WPRIM | ID: wpr-915759

ABSTRACT

Fecal microbiota transplantation (FMT) is a highly efficacious and safe modality for the treatment of recurrent or refractory Clostridioides difficile infection (CDI), with overall success rates of 90%. Thus, FMT has been widely used for 10 years. The incidence and clinical characteristics of CDI, the main indication for FMT, differ between countries. To date, several guidelines have been published. However, most of them were published in Western countries and therefore cannot represent the Korean national healthcare systems. One of the barriers to performing FMT is a lack of national guidelines. Accordingly, multidisciplinary experts in this field have developed practical guidelines for FMT. The purpose of these guidelines is to aid physicians performing FMT, which can be adapted to treat CDI and other conditions.

16.
Journal of Korean Medical Science ; : e14-2022.
Article in English | WPRIM | ID: wpr-915531

ABSTRACT

Background@#Preventive measures are needed to reduce the risk of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among healthcare workers (HCWs). Notably, hospital staff are usually exposed when they are unmasked. There are limited data on the risk of transmission during mealtimes at hospital staff cafeterias. We aimed to evaluate the risk of transmission in cafeterias. @*Methods@#From January 2020 through September 2021, we analyzed the risk of SARS-CoV-2 transmission through closed-circuit television and radio-frequency identification tracking and follow-up testing when 33 HCWs, who were eventually diagnosed as coronavirus disease 2019 (COVID-19), ate in staff cafeterias during the infectious period. The seats were arranged so the HCWs would sit on either side without facing each other. There were no plastic barriers installed, and HCWs were encouraged not to talk during meals. @*Results@#Three of the 119 individuals who ate at seats next (about 30 cm) to index during the period of transmission and underwent follow-up SARS-CoV-2 polymerase chain reaction tests were diagnosed with COVID-19 (2.5%; 95% confidence interval, 0.5–7.4%). Among the 98 HCWs who were investigated about talking during meals, there was a higher attack rate among those who spoke with each other than among those who did not (12.5% [3/24] vs. 0% [0/74], P = 0.013). @*Conclusion@#The risk of transmission in a hospital’s employee cafeterias is not high with sideby-side seating, especially in the absence of conversation.

17.
Intestinal Research ; : 3-10, 2022.
Article in English | WPRIM | ID: wpr-914738

ABSTRACT

During the coronavirus disease 2019 (COVID-19) pandemic, many unpredictable changes have occurred in the medical field. Risk of COVID-19 does not seem to increase in patients with inflammatory bowel disease (IBD) considering based on current reports. Current medications for IBD do not increase this risk; on the contrary, some of these might be used as therapeutics against COVID-19 and are under clinical trial. Unless the patients have confirmed COVID-19 and severe pneumonia or a high oxygen demand, medical treatment should be continued during the pandemic, except for the use of high-dose corticosteroids. Adherence to general recommendations such as social distancing, wearing facial masks, and vaccination, especially for pneumococcal infections and influenza, is also required. Patients with COVID-19 need to be withhold immunomodulators or biologics for at least 2 weeks and treated based on both IBD and COVID-19 severity. Prevention of IBD relapse caused by sudden medication interruption is important because negative outcomes associated with disease flare up, such as corticosteroid use or hospitalization, are much riskier than medications. The outpatient clinic and infusion center for biologics need to be reserved safe spaces, and endoscopy or surgery should be considered in urgent cases only.

18.
Gut and Liver ; : 81-91, 2022.
Article in English | WPRIM | ID: wpr-914380

ABSTRACT

Background/Aims@#This study aimed to investigate the perceptions and behaviors of patients with inflammatory bowel disease (IBD) during the early coronavirus disease 2019 (COVID-19) pandemic in the major epidemic area in Korea. @*Methods@#Between April and May 2020, a cross-sectional survey was performed at two tertiary hospitals in Daegu, South Korea, on patients’ experiences, coping strategies and perceptions. @*Results@#Most of the 544 patients participating in the survey strictly adhered to personal protection guidance against COVID-19. In the early COVID-19 crisis, many patients canceled or postponed hospital visits (57.5%) and rescheduled biologics administrations (26.4%). Although 13.6% utilized telemedicine, the frequency of individuals leaving their homes remained unchanged. Although 50.4% were concerned about their susceptibility to COVID-19, 72.2% adhered to their treatment for IBD. In patients taking biologics or Janus kinase inhibitors, 86.8% disagreed that they should discontinue their medication as a preventative measure against COVID-19, but 21.9% actually discontinued their medications. Of those with discordance between the perception of IBD drug adherence and active behaviors, 5.4% of all and 39.4% of biologics or Janus kinase inhibitors withheld drugs specifically due to fear of COVID-19. Only 7% of all patients discussed drug safety with their physicians. The level of concern for COVID-19 depended on the type of drug used. @*Conclusions@#Patients with IBD showed concerns about the increased risk of COVID-19 due to IBD or their medications, and a considerable number of patients withheld their medications without consulting medical staff. Enhanced active communications with patients with IBD and appropriate health-related education should be provided.

19.
Clinical and Molecular Hepatology ; : 67-76, 2022.
Article in English | WPRIM | ID: wpr-913978

ABSTRACT

Background/Aims@#We aimed to investigate the silent atherosclerotic burden of cervicocephalic vessels in cirrhotic patients compared with the general population, as well as the relevant risk factors including coronary parameters. @*Methods@#This study included 993 stroke-free patients with liver cirrhosis (LC) who underwent magnetic resonance angiography (MRA) of the head and neck as a pre-liver transplant assessment and 6,099 health checkup participants who underwent MRA examination. The two cohorts were matched for cerebrovascular risk factors, and the prevalence of atherosclerosis in major intracranial and extracranial arteries was compared in 755 matched pairs. Moreover, traditional, hepatic, and coronary variables related to cerebral atherosclerosis were assessed in cirrhotic patients. @*Results@#Overall, intracranial atherosclerosis was significantly less prevalent in the LC group than in the matched control group (2.3% vs. 5.4%, P=0.002), whereas the prevalence of extracranial atherosclerosis was similar (4.4% vs. 5.8%, P=0.242). These results were maintained in multivariate analyses of the pooled samples, with corresponding adjusted odds ratios [ORs] of LC of 0.56 and 0.77 (95% confidence intervals [CIs], 0.36–0.88 and 0.55–1.09). In the LC group, lower platelet count was inversely correlated with intracranial atherosclerosis (adjusted OR, 0.31; 95% CI, 0.13–0.76). Coronary artery calcium (CAC) score ≥100 was the only predictive factor for both intracranial and extracranial atherosclerosis (adjusted ORs, 4.06 and 5.43, respectively). @*Conclusions@#LC confers protection against intracranial atherosclerosis, and thrombocytopenia may be involved in this protective effect. High CAC score could serve as a potential surrogate for cervicocerebral vascular screening in asymptomatic cirrhotic patients.

20.
Journal of Genetic Medicine ; : 100-104, 2022.
Article in English | WPRIM | ID: wpr-967172

ABSTRACT

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12).This is a rare case report of CS with DEE-SWAS in a Korean patient.

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