• Childhood Kidney Diseases
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• v.23 no.2
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• pp.111-115
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• 2019

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

• The Journal of Korean Society for School & Community Health Education
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• v.18 no.2
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• pp.97-105
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• 2017

Objectives: The purpose of this study is to investigate the knowledge, confidence and coping ability about emergency treatment, and the impact of right knowledge and confidence in practice on coping ability in part of dental hygienists. In addition, we suggest emergency treatment knowledge for develop substantive education program applicable to clinical as required data. Methods: This subjects were 259 dental hygienists working in dental setting Seoul, Gyeonggi-do from June 5 to July 20, 2016. We analyzed the data with frequency analysis, descriptive statistics, t-test, one-way ANOVA, pearson correlation coefficient, regression analysis by using SPSS. Results: Emergencies experienced by a dental hygienist in dental practice were fainting, local anesthetic allergies, and seizures. As a result of comparing the first aid knowledge, self-confidence, coping ability according to general characteristics of the study subjects, university graduation was higher than college and 3~5 years of working experience showed higher self confidence(F=3.837, p=0.023). The performance of self confidence and coping ability according to the characteristics of first aid showed high results in first aid training and dental hygienist having CPR license. Based on multiple regression analysis, confidence about emergency treatment is the biggest impact on coping ability(p<0.05). Conclusions: Dental hygienists need to develop and provide programs that can improve the ability of dental hygienists to respond appropriately and promptly in case of emergencies by recognizing the importance of first aid through conservative education.

• Korean Journal of Clinical Laboratory Science
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• v.53 no.4
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• pp.296-308
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• 2021

Electroencephalography (EEG) provides the most accurate and quickest diagnosis of epilepsy. It is also an important examination for the real-time evaluation of brain function and seizures, no matter where. In the field of epilepsy, it is appropriate for a clinical pathologist with considerable knowledge of EEG and clinical experience to perform the role of a Physician Assistant (PA). The electrode attachment method is based on the international 10-20 system. The EEG reading is mainly taken by longitudinal bipolar montage. However, a reading using only one montage may result in an error. Hence, two or more montages should be used for readings according to the clinical situation. In the EEG, electric potentials are seen as contour lines. The most important principle in EEG reading is under-reading, not over-reading. The higher the repetitions of the EEG recording, the greater the sensitivity of the reading. For a good reading, the EEG recording must be of good quality. So, the relationship between the neurologist and the EEG technician is very important. In the future, it is expected that the field of activities of the EEG technician with abundant EEG reading experience and clinical practical knowledge will be further expanded.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Journal of Digital Forensics
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• v.12 no.3
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• pp.83-96
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• 2018

Electronic medical records in the hospital information system are the important evidence related to the crime and are subject to search and seizure. In the case of a large general hospital, it is possible to search for seizures through cooperation of the staff, but it is impossible in small hospitals. The investigation agency copies the database of electronic medical records and then selects relevant content. This approach has an issue of excessive search and seizure. In this paper, we propose field selection procedures and methods for electronic medical records while ensuring integrity, reproducibility, and chain of custody. Currently, it is necessary to study the procedures and methods of search and seizure of medical information system so that it can respond to next changing cloud hospital information system.

• Clinical and Experimental Pediatrics
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• v.62 no.7
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• pp.281-285
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• 2019

Purpose: To evaluate the association between elevated S100B levels with brain tissue damage seen in abnormalities of head magnetic resonance imaging (MRI; diffusion tensor imaging [DTI] sequence) in patients with status epilepticus (SE). Methods: An analytical observational study was conducted in children hospitalized at Dr Soetomo Hospital, Surabaya, from July to December 2016. The patients were divided into 2 groups: SE included all children with a history of SE; control included all children with febrile seizure. Blood samples of patients were drawn within 24 hours after admission. SE patients also underwent cranial MRI with additional DTI sequencing. The Mann-Whitney test and Spearman test were used for statistical analysis. Results: Fifty-three patients were enrolled the study. In the 24 children with SE who met the inclusion criteria, serum S100B and cranial MRI findings were assessed. Twenty-two children admitted with febrile seizures became the control group. Most patients were male (66.7%); the mean age was 35.8 months (standard deviation, 31.09). Mean S100B values of the SE group ($3.430{\pm}0.141{\mu}g/L$) and the control group ($2.998{\pm}0.572{\mu}g/L$) were significantly different (P<0.05). A significant difference was noted among each level of encephalopathy based on the cranial MRI results with serum S100B levels and the correlation was strongly positive with a coefficient value of 0.758 (P<0.001). Conclusion: In SE patients, there is an increase of serum S100B levels within 24 hours after seizure, which has a strong positive correlation with brain damage seen in head MRI and DTI.

• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.387-391
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• 2018

Purpose: Subgaleal hemorrhage (SGH) is a rare but potentially fatal condition in newborns; however, few studies have reported on this condition. We aimed to identify the clinical characteristics and prognostic factors of SGH. Methods: We retrospectively reviewed the medical records of 20 neonates diagnosed with SGH between January 2000 and June 2017. Enrolled neonates were clinically diagnosed when they had tender fluctuant scalp swelling that crossed the suture lines. Results: Among 20 neonates with SGH, 12 were boys and 7 were girls; median hospitalization duration was $9.7{\pm}6.9days$. Fourteen neonates (70%) were born via vacuum-assisted vaginal delivery, and 4 via vacuum-assisted cesarean section. Of the neonates enrolled, half of them initially showed unstable vital signs, including apnea, desaturation, and cyanosis. Ten neonates had acidosis and 3 had asphyxia (pH<7.0). Intracranial lesions associated with SGH were observed in 15 neonates (75%), including subdural hemorrhage (50%), subarachnoid hemorrhage (15%), intraventricular hemorrhage (5%), cerebral infarct (15%), skull fracture (30%), and cephalohematoma (20%). Twelve neonates (60%) required transfusion, 5 (25%) had seizures, and 3 (15%) died. Eight neonates (40%) had hyperbilirubinemia (mean total bilirubin, $13.1{\pm}7.4$). The mean follow-up period was $8.4{\pm}7.5months$. At follow-up, 10 neonates (58.8%) were healthy with normal development, whereas 7 (41.2%) had neurological deficits. Conclusion: The morbidity rate was 41.2% due to severe metabolic acidosis. Anemia, hyperbilirubinemia, low Apgar scores, and subdural hemorrhage did not affect the prognosis. The long-term outcomes of neonates with SGH are generally good. Only arterial blood pH was significantly associated with death.

• Genomics & Informatics
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• v.17 no.1
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• pp.7.1-7.10
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• 2019

Cysticercosis, a parasitic disease caused by Taenia solium metacestode (TsM), has a major global public health impact in terms of disability-adjusted life years. The parasite preferentially infects subcutaneous tissue, but may invade the central nervous system, resulting in neurocysticercosis (NC). NC is an important neglected tropical disease and an emerging disease in industrialized countries due to immigration from endemic areas. The prevalence of taeniasis in Korea declined from 0.3%-12.7% during the 1970s to below 0.02% since the 2000s. A survey conducted from 1993 to 2006 revealed that the percentage of tested samples with high levels of specific anti-TsM antibody declined from 8.3% to 2.2%, suggesting the continuing occurrence of NC in Korea. Modern imaging modalities have substantially improved the diagnostic accuracy of NC, and recent advances in the molecular biochemical characterization of the TsM cyst fluid proteome also significantly strengthened NC serodiagnosis. Two glycoproteins of 150 and 120 kDa that induce strong antibody responses against sera from patients with active-stage NC have been elucidated. The 150 kDa protein showed hydrophobic-ligand binding activities and might be critically involved in the acquisition of host-derived lipid molecules. Fasciclin and endophilin B1, both of which play roles in the homeostatic functions of TsM, showed fairly high antibody responses against calcified NC cases. NC is now controllable and manageable. Further studies should focus on controlling late-onset intractable seizures and serological diagnosis of NC patients infected with few worms. This article briefly overviews diagnostic approaches and discusses current issues relating to NC serodiagnosis.

• Journal of The Korean Society of Clinical Toxicology
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• v.18 no.2
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• pp.94-101
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• 2020

Purpose: This study examined the clinical and epidemiological characteristics of intensive care unit (ICU) patients admitted or died in the emergency medical center with acute-poisoning to investigate the variables related to the prognosis. Methods: The data were collected from poisoning patients admitted or died in the emergency medical center of a general hospital located in Seoul, from January 2014 to February 2020. The subjects of this study were 190 patients. The medical records were screened retrospectively, and the clinical and epidemiological characteristics of the patients in the emergency room (ER) and ICU were examined to investigate the contributing factors that influence the poor prognosis. Results: The study analyzed 182 patients who survived after being admitted to the intensive care unit (ICU). The results are as follows. The mental change (87.4%) was the most common symptom. Sedative poisoning (49.5%) was the commonest cause. For most patients, pneumonia (26.9%) was the most common complication. Hypotension (23.7%), tachycardia (42.1%), fever (15.8%), seizures (10.5%), dyspnea (2.6%), high poisoning severity score (PSS), type of toxic material, mechanical ventilator application (39.5%), inotropes application (39.5%), and pneumonia (55.3%) were correlated the LOS over 5 days in the ICU. 8 patients died. In the case of death pesticides and carbon monoxide were the main toxic materials; tachycardia, bradycardia, and hypotension were the main symptoms, and a mechanical ventilator and inotropes were applied. Conclusion: Patients with unstable vital signs, high PSS, and non-pharmaceutical poisoning had a prolonged LOS in the ICU and a poor prognosis.

• Journal of Korean Neurosurgical Society
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• v.65 no.1
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• pp.123-129
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• 2022

Objective : Chronic subdural hematoma (CSDH) is one of the most common pathology in daily neurosurgical practice and incidence increases with age. The aim of this study was to evaluate the prognostic factors and surgical outcome of CSDH in patients aging over 90 years compared with a control group of patients aging under 90 years. Methods : This study reviewed 25 patients with CSDH aged over 90 years of age treated in our department. This group was compared with a younger group of 25 patients aged below their eighties. At admission past medical history was recorded concerning comorbidities (hypertension, dementia, ictus cerebri, diabetes, and heart failure or attack). History of alcohol abuse, anticoagulant and antiplatelet therapy, head trauma and seizures were analyzed. Standard neurological examination and Markwalder score at admission, 48 hours after surgery and 1-6 months follow-up, radiologic data including location and CSDH maximum thickness were also evaluated. Results : Their mean age was 92.8 years and the median was 92.4 years (range, 90-100 years). In older group, the Markwalder evaluation at one month documented the complete recovery of 24 patients out of 25 without statistical difference with the younger group. This data was confirmed at 6-month follow-up. One patient died from cardiovascular failure 20 days after surgery. The presence of comorbidities, risk factors (antiplatelet therapy, anticoagulant therapy, history of alcohol abuse, and head trauma), preoperative symptoms, mono or bilateral CSDH, maximum thickness of hematoma, surgical time and recurrence were similar and statistically not significant in both groups. Conclusion : In this study, we demonstrate that surgery for very old patients above 90 years of age affected by CSDH is safe and allows complete recovery. Comparing two groups of patients above and under 90 years old we found that complication rate and recovery were similar in both groups.