• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.21-25
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• 2018

Fabry disease is a hereditary lysosomal storage disorder caused by the reduction or absence of lysosomal enzyme alpha-galactosidase A and the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3), in various organs, including the heart. The prevention of cardiac involvement in Fabry disease can only be achieved by enzyme replacement therapy (ERT), and the method of assessing the efficacy of ERT should be confirmed. Changes in the electrocardiogram, such as the shortening of PQ interval, prolongation of QTc and repolarization abnormalities as well as left ventricular hypertrophy in voltage criteria, can be used to identify Fabry disease patients; however, the usefulness of electrocardiograms for evaluating the efficacy of ERT is limited. The assessment of left ventricular hypertrophy using echocardiography has been established to evaluate the efficacy of ERT during long-term period. A new technique involving speckled tracking method might be useful for detecting early cardiac dysfunction and identifying the effect of ERT for a relatively short period. The estimation of left ventricular hypertrophy using cardiac magnetic resonance (CMR) is also useful for assessing the efficacy of ERT. Identifying late gadolinium enhancement in CMR may affect the effectiveness of ERT, and the new technique of T1 mapping might be useful for monitoring the accumulation of Gb3 during ERT. Histopathology in cardiac biopsy specimens is another potentially useful method for identifying the accumulation of GB3; however, the use of histopathology to evaluate of the efficacy of ERT is limited because of the invasive nature of an endomyocardial biopsy.

• Pediatric Infection and Vaccine
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• v.4 no.2
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• pp.303-307
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• 1997

Hand-Foot-Mouth disease, which has a various enanthem-exanthem complex at the tongue, buccal mucosa, hands and feets and buttock area with febrile illness, is usually caused by Coxscakie virus type A(16). Generally, this disease shows self limited course and good prognosis without neurologic manifestations. However, enterovirus 71, which was newly discovered and reported in 1974, can cause the striking features of Hand-Foot-Mouth disease outbreaks and has neuropathogenic potentials of polio-like paralytic illness including aseptic meningitis, meningoencephalitis and respiratory disease. We experienced a case of Hand-Foot-Mouth disease with polyradiculitis manifestations, and a case of Hand-Foot-Mouth disease with meningoencephalitis. Therfore, we report these cases with brief review of related literatures.

• BMB Reports
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• v.42 no.6
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• pp.356-360
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• 2009

In the present study we have examined human-mouse homologous intronless disease and non-disease genes alongside their extent of sequence conservation, tissue expression, domain and gene ontology composition to get an idea regarding evolutionary and functional attributes. We show that selection has significantly discriminated between the two groups and the disease associated genes in particular exhibit lower $K_{a}$ and $K_{a}/K_{s}$ while $K_{s}$ although smaller is not significantly different. Our analyses suggest that majority of disease related intronless human genes have homology limited to eukaryotic genomes and their expression is localized. Also we observed that different classes of intronless disease related genes have experienced diverse selective pressures and are enriched for higher level functionality that is essentially needed for developmental processes in complex organisms. It is expected that these insights will enhance our understanding of the nature of these genes and also improve our ability to identify disease related intronless genes.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.26 no.3
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• pp.165-172
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• 2023

Crohn's disease (CD) is a chronic, incurable and relapsing disease involving any part of the gastrointestinal tract and exclusive enteral nutrition (EEN) is first-line therapy. Few studies have examined the patient experience of EEN. The aim of this study was to assess the child's experiences of EEN, to identify problematic themes and understand the child's mindset. Children with CD who previously completed EEN were recruited to complete a survey. All data were analyzed using Microsoft Excel and reported as N (%). Forty-four children (mean age 11.3 years) consented to participate. Sixty-eight percent of children reported limited formula flavors as the most challenging aspect and 68% of children identified 'support' to be important. This study highlights the psychological impact of chronic disease and its therapies on children. Providing adequate support is essential to insure EEN is successful. Further studies are required to determine psychological support strategies for children taking EEN.

• Nuclear Medicine and Molecular Imaging
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• v.42 no.sup1
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• pp.116-120
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• 2008

Prostate cancer is the second leading cause of cancer death of men in western countries and the death related to this disease in Korea is also getting increased. Although anatomic imaging tools such as transrectal US or MRI have been playing a great role in detection of primary prostate lesion, the evaluation of regional lymph node or distant organ metastasis using these modalities is not successful. $^{18}F-FDG-PET$ scan is emerging diagnostic tool for various malignancies. Considering the usual characteristics of prostate cancer such as slow growing and osteoblastic metastasis, the application of FDG PET scan to this disease might be limited. However, in advanced prostate cancer refractory to chemotherapy, FDG PET scan show strong FDG uptake and SUV changes in serial PET scan can be a good indicator of treatment response. Although FDG PET can be useful only in limited cases of prostate cancer, its indication can be widened in future owing to rapid technical improvement and accumulated experiences in this field.

• Clinical and Experimental Pediatrics
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• v.64 no.4
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• pp.157-164
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• 2021

Since the emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in December 2019, a small number of coronavirus disease 2019 (COVID-19) cases in neonates have been reported worldwide. Neonates currently account for only a minor proportion of the pediatric population affected by COVID-19. Thus, data on the epidemiological and clinical features of COVID-19 in neonates are limited. Approximately 3% of neonates born to mothers with COVID-19 reportedly tested positive for SARS-CoV-2. Current limited data on neonates with COVID-19 suggest that neonatal COVID-19 shows a relatively benign course despite a high requirement for mechanical ventilation. However, neonates with pre-existing medical conditions and preterm infants appear to be at a higher risk of developing severe COVID-19. The greatest perinatal concern of the COVID-19 pandemic is the possibility of vertical transmission, especially transplacental transmission of SARS-CoV-2. Although direct evidence of the vertical transmission of SARS-CoV-2 is lacking, its possibility during late pregnancy cannot be ruled out. This review summarizes available case studies on COVID-19 in neonates and introduces what is currently known about neonatal COVID-19 with focus on its vertical transmission.

• Childhood Kidney Diseases
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• v.27 no.2
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• pp.70-75
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• 2023

Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice. A diagnosis is clinically suspected in patients with low-molecular-weight proteinuria, hypercalciuria, and one of the following: hematuria, nephrolithiasis, nephrocalcinosis, hypophosphatemia, or chronic kidney disease. Inheritance is X-linked recessive, meaning, these symptoms are generally only found in males; female carriers may have mild phenotypes. Genetic testing is only a method to confirm the diagnosis, approximately 25% to 35% of patients have neither the CLCN5 nor OCRL1 pathogenic variants (Dent disease 3), making diagnosis more challenging. The genotype-phenotype correlations are not evident with the limited clinical data available. As with many other genetic diseases, the management of patients with Dent disease concentrates on symptom relief rather than any causative process. The current treatments are mainly supportive to reduce hypercalciuria and prevent nephrolithiasis. Chronic kidney disease progresses to end-stage between the ages of the third to fifth decades in 30% to 80% of affected males. In this review, we aimed to summarize the literature on Dent disease and reveal the clinical characteristics and molecular basis of Korean patients with Dent disease.

• Journal of Korean Medicine Rehabilitation
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• v.15 no.1
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• pp.143-161
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• 2005

Objectives : Among the patients at Seoul Veterans Hospital, there is a great demand for oriental medical treatments, and the number of patients of oriental medical part is on the increase. The purpose of this study is to show patients inclination statistically. Methods : The study was carried out on the 1045 patients came to Seoul veterans hospital from April 2003 to May 2004. Results & Conclusions : 1. Most of men patients were veterans. They had neurological disorder or cerebrovascular disease that was ongoing for 1~5 years before diagnosis and they were treated less than 10 times. 2. Most of women patients were nursing their family. They had musculoskeletal disease that was ongoing 1 week before diagnosis and they were treated less than 10 times. 3. Under the current system, only acupuncture and other limited treatments are provided to patients due to the limited funding from the government. There were few patients who had an internal disease because they needed to be herbal treated. If the government funding were provided, they would be able to be treated.

• Journal of Preventive Medicine and Public Health
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• v.53 no.5
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• pp.302-306
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• 2020

Objectives: In this paper, we aimed to investigate the evolving debate over border closure in Korea during the coronavirus disease 2019 (COVID-19) pandemic, to address the main themes associated with border closure, and to discuss the factors that need to be considered when making such decisions. Methods: We collated and reviewed previously conducted review studies on border closures during infectious disease outbreaks to derive relevant themes and factors. Results: According to our systematic review on border closures and travel restrictions, the effects of such containment efforts are limited. We suggest considering the following factors when determining whether to impose border closure measures: (1) disease characteristics, (2) timeliness of implementation, (3) transmission delay and the basic reproduction number, (4) globalization and pandemics, and (5) social and economic costs. Conclusions: Our assessment indicates that the effects of border closures are at best temporary and limited. Alternative measures must be contemplated and implemented to suppress the spread of COVID-19 in particular and infectious diseases more broadly.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.26-30
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• 2019

PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child's development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.