• Journal of Periodontal and Implant Science
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• v.44 no.6
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• pp.293-299
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• 2014

Purpose: Systemic disease can manifest oral signs at an early phase, which may be crucial for the diagnosis and timing of treatment. This report describes two patients who presented with gingival enlargement as an early sign of acute leukemia. Methods: Two patients presented with oral symptoms including severe gingival enlargement. The progress of their symptoms was associated with underlying systemic disease. Results: The patients were transferred to the Department of Hematology and diagnosed with acute myelomonocytic leukemia. They received appropriate treatment and survived. Conclusions: Gingival enlargement can be caused by underlying systemic diseases. Accurate diagnosis and timely referral are important for preventing a fatal situation. It must be emphasized that some oral signs and symptoms may be closely correlated with systemic diseases.

• The Korean Journal of Medicine
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• v.99 no.1
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• pp.17-24
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• 2024

Premature atrial complex (PAC) and premature ventricular complex (PVC) are the most common arrhythmias. Most of them are benign, whereas some could be an initial sign of any underlying significant heart disease. Evaluation of daily burden and the presence of any association with underlying medical conditions are essential for proper assessment. Recently, newly developed electrocardiogram smart devices are widely available to document arrhythmias and identify correlations with symptoms. Management is required if the daily burden is high, patients are highly symptomatic, or significant structural heart disease is present. Antiarrhythmic drugs (AADs) are the first-line treatment, but if arrhythmias are drug-refractory or the patients are intolerable to AADs, catheter ablation is considered a good alternative in selected cases. In this paper, the proper diagnosis and management for PAC and PVC will be comprehensively reviewed.

• Korean Journal of Radiology
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• v.21 no.7
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• pp.929-930
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• 2020

• Journal of Dental Anesthesia and Pain Medicine
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• v.24 no.4
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• pp.297-299
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• 2024

• Journal of Yeungnam Medical Science
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• v.24 no.1
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• pp.11-23
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• 2007

Hirschsprung's disease is one of the most common causes of intestinal obstruction in neonates and infants. The underlying pathology of this disease is the absence of the ganglion cells in both the myenteric (Auerbach's) plexus and the submucosal (Meissner's) plexus. Since Hirschsprung's report in 1886, there have been thousands of papers on Hirschsprung's disease but the cause of the absence of the ganglion cells has not been identified. Hirschsprung's disease can be successfully treated with the Swenson, the Duhamel, and the Soave operations even though the pathogenesis is unknown. With the recent progress of molecular biology and genetics, a more detailed approach to the pathogenesis of Hirschsprung's disease can be undertaken. In addition, there have been recent developments in the surgical approach. In this review, recent advances in surgery for Hirschsprung's disease are presented.

• Journal of Korean Public Health Nursing
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• v.28 no.3
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• pp.495-508
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• 2014

Purpose: This study was conducted in order to evaluate the reliability, validity, sensitivity, and specificity of the Short Form of Bobath Memorial Hospital Fall Risk Assessment Scale (BMFRAS-SF). Methods: A validation study was conducted on 207 elderly patients aged over 65 who were admitted to Bobath Memorial Hospital. Fall risk scores of BMFRAS, composed of eight subscales (age, fall history, physical activity, consciousness level, communication, fall risk factors, underlying disease, and medications) were assessed from the electronic medical record. BMFRAS-SF was derived from eight subscales of the BMFRAS representing the significance between fallers and non-fallers (fall history, physical activity, fall risk factors, underlying disease, and medications). Internal consistency reliability and interrater reliability were assessed by Cronbach's alpha and kappa coefficient. Validity was assessed by Spearman correlation analysis, factor analysis. Sensitivity, specificity, positive predictive and negative predictive values, and a receiver-operating characteristic curve (ROC) were generated. Results: Fallers had significantly higher risk scores than non-fallers in fall history, physical activity, fall risk factors, underlying disease, and medication scales. The BMFRAS-SF demonstrated acceptable Cronbach's alpha (.706) and kappa coefficients of .95. The BMFRAS-SF subscales showed good convergent validity and construct validity. The BMFRAS-SF presented good sensitivity(86.7%), specificity(67.9%), positive predictive value(42.9%) and good negative predictive value(94.8%) at a cut-off score of 5. Areas under the ROC curves were .860 for the BMFRAS and .861 for the BMFRAS-SF. Conclusion: The BMFRAS-SF was proved to be reliable and valid. It could be used for time-saving assessment and evaluation of the high risks for falls in clinical practice settings.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Childhood Kidney Diseases
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• v.27 no.1
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• pp.34-39
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• 2023

Purpose: This article was to collect data on the safety of coronavirus disease 2019 (COVID-19) vaccines in children with underlying medical conditions. Methods: We constructed a prospective cohort of children and adolescents aged 5 to 19 years who had received at least one dose of COVID-19 vaccine. Patients diagnosed with and treated for chronic kidney disease, autoimmune disease, or other chronic conditions at the Seoul National University Children's Hospital were recruited from June to December 2022. A mobile survey questionnaire was sent to their guardians. The presence of adverse events on the day (day 0), 3 weeks (day 21), and 6 months (day 180) after the 1st dose of COVID-19 vaccine was recorded by the guardians. Results: A total of 73 children participated. The median age was 14 years, and 64.4% of the patients were male. On the day of immunization, 65.8% of the patients reported at least one adverse event. Pain at the injection site, fatigue, headache, arthralgia, and myalgia were the most common symptoms. The prevalence of adverse events decreased over time (65.8% on day 0, 27.4% between days 0 and 21, and 24.6% between days 21 and 180). Severe acute respiratory syndrome coronavirus 2 infection after the 1st dose occurred in 17 patients (23.3%) and one of the patients (5.88%) was hospitalized due to infection. Conclusions: Adverse events after COVID-19 vaccination were generally mild in children and adolescents with underlying medical conditions. Our findings provide evidence for the safety of COVID-19 vaccination in the vulnerable pediatric population.

• Journal of Chest Surgery
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• v.28 no.12
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• pp.1132-1138
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• 1995

From 1991 to 1994, we experienced 24 cases of neonatal pneumothorax who were admitted to the Neonatal Intensive Care Unit[NICU , Chosun University Hospital. The Following results were obtained.1 The incidence of neonatal pneumothorax was 0.70%, and there were 8 spontaneous pneumothoraces and 16 secondary pneumothoraces. 2 The clinical manifestation of neonatal pneumothorax was as followed. Male infant was dominant[M:F=2:1 , the onset was within 24 hours in the majority[83% , and the right side[62% was more frequent than the left side. The gestation duration and birth weight show no correlation with underlying neonatal pneumothorax. The pulmonary diseases were meconium aspiration syndrome and hyaline membrane disease, and the incidence of those was 58%. Meconium aspiration syndrome occurred earlier than hyaline membrane disease. Symptoms and signs were tachypnea[46% , cyanosis[21% , irritability[13% , chest retraction[8% and apnea[8% .3 The treatments performed were oxygen therapy[17% , thoracentesis[4% and closed thoracostomy with underwater seal drainage[79% . The Mean duration of air leakage was 11.7 hours, and the mean drainage time was 4.35$\pm$1.3day. 4 The overall hospital mortality was 33%, and the rate of complication was 46%. The complications were metabolic acidosis, atelectasis, pleural effusion, pulmonary hemorrhage and pneumonia. We concluded that the prognosis was related to the underlying pulmonary disease.

• Proceedings of the Korean Society of Applied Pharmacology
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• 2008.04a
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• pp.49-52
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• 2008

Parkinson's disease is characterized by motor disturbances and dopaminergic neurodegeneration. parkin and PINK1, two most critical Parkinson's disease-associated genes, have been intensively studied to address the underlying molecular pathogenesis of the disease, but our understanding still remains unclear. Through generation and characterization of Drosophila mutants for PINK1, we show that PINK1 is required for mitochondrial integrity and function in both indirect flight muscles and dopaminergic neurons. Surprisingly, we find that PINK1 mutants share striking phenotypic similarities with parkin mutants. Indeed, transgenic expression of parkin dramatically ameliorates all PINK1 loss-of-function phenotypes, but not vice versa, implicating that Parkin acts downstream of PINK1 in maintaining mitochondrial integrity and function in both muscles and dopaminergic neurons. With the establishment of the PINK1-Parkin pathway, we are trying to further investigate the detailed molecular relationship between PINK1 and Parkin using both mammalian dopaminergic neuronal cells for biochemical analysis and Drosophila model animal for genetic analysis. We believe that elucidating the molecular function of Parkinson's disease-associated genes will be of big help for the ultimate understanding of the pathogenic mechanism of this disease and also for the development of effective drugs for Parkinson's disease.