• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.23-27
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• 2001

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in the GLUT 2 gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine, and kidney. This disease is characterized by hepatorenal glycogen accumulation, both fasting hypoglycemia as well as postprandial hyperglycemia and hyperglactosemia, and generalized proximal renal tubular dysfunctions. We report the first Korean patient with FBS diagnosed based on clinical manifestations and identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed having a neonatal diabetes mellitus due to hyperglycemia and glycosuria at 3 days after birth. In addition, newborn screening for galactosemia revealed hypergalactosemia. Thereafter, she has been managed with lactose free milk, insulin therapy. However, she failed to grow and her liver has been progressively enlarging. Her liver functions were progressively deteriorated with increased prothrombin time. Liver biopsy done at age 9 months indicated micronodular cirrhosis with marked fatty changes. She succubmed to hepatic failiure with pneumonia at 10 months of age. Laboratory tests indicated she had generalized proximal renal tubular dysfuctions; renal tubular acidosis, hypophosphatemic rickets, and generalized aminoaciduria. Given aforementioned findings, the diagnosis of FBS was appreciated at age of 2 months. The DNA sequencing analysis of the GLUT 2 gene using her genomic DNA showed a novel mutation at 5th codon; Lysine5 Stop (K5X).

• Tuberculosis and Respiratory Diseases
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• v.44 no.6
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• pp.1382-1389
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• 1997

Hantavirus pulmonary syndrome(HPS) is a systemic disease that is caused by a newly discorved and characterized virus of the Hantavirus genus, which is most frequently referred to as the sin nombre virus. The clinical syndrome resembles other hantavirus syndromes worldwide, except that it is characterized by a brief prodromal illness followed by rapidly progressive, noncardiogenic edema, and that it is more deadly than any previously recognized hantavirus infection. The clinical manifestations of HPS are characterized by four clinical phases : prodrome, pulmonary edema and shock, diuresis, and convalescence. Mortality is greatest in the first 24 hours of the pulmonary edema and shock phase of the illness. These phases are strikingly similar to the clinical phases of Hemorrhagic fever with renal syndrome(HFRS) induced by Hantaan virus, except that HPS has not been associated with renal failure and Disseminated intravascular coagulation(DIC). We here report a case of hantavirus pulmonary syndrome developed in a 58 year-old man. He had a flu-like illness followed by the rapid onset of respiratory failure due to noncardiogenic pulmonary edema. HPS was diagnosed by clinical manifestations, identification of high titer antibody to Hantaan virus antigen and histologic finding of transbronchial lung biopsy (TBLB) specimen. The patient was treated with mechanical ventilation and initial corticosteroid pulse therapy resulting in successful outcome.

• Journal of Korean Medicine for Obesity Research
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• v.21 no.2
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• pp.80-94
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• 2021

Objectives: The purpose of this study is to re-evaluate the importance of questions of obesity syndrome differentiation (OSD) questionnaire based on real-world survey and to explore the possibility of simplifying OSD types. Methods: The OSD frequency was identified, and variance threshold feature selection was performed to filter the questions. Filtered questions were clustered by K-means clustering and hierarchical clustering. After principal component analysis (PCA), the distribution patterns of the subjects were identified and the differences in the syndrome distribution were compared. Results: The frequency of OSD in spleen deficiency, phlegm (PH), and blood stasis (BS) was lower than in food retention (FR), liver qi stagnation (LS), and yang deficiency. We excluded 13 questions with low variance, 7 of which were related to BS. Filtered questions were clustered into 3 groups by K-means clustering; Cluster 1 (17 questions) mainly related to PH, BS syndromes; Cluster 2 (11 questions) related to swelling, and indigestion; Cluster 3 (11 questions) related to overeating or emotional symptoms. After PCA, significant different patterns of subjects were observed in the FR, LS, and other obesity syndromes. The questions that mainly affect the FR distribution were digestive symptoms. And emotional symptoms mainly affect the distribution of LS subjects. And other obesity syndrome was partially affected by both digestive and emotional symptoms, and also affected by symptoms related to poor circulation. Conclusions: In-depth data mining analysis identified relatively low importance questions and the potential to simplify OSD types.

• The Journal of Internal Korean Medicine
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• v.36 no.2
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• pp.122-152
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• 2015

Objectives: This study was designed to develop a standard tool for pattern identification of gastroesophageal reflux disease (GERD) patients. Methods: Korean and Chinese literature was selected that mentioned pattern identification of GERD. We gathered the pattern identification and their symptoms and a Chinese medical doctor proficient in Korean translated the Chinese characters into Korean. A Korean linguist then confirmed the translation results to develop a draft of the standard tool for pattern identification of gastroesophageal reflux disease (PIGERD). The final PIGERD was developed after assessment by an expert committee composed of professors from the Korean Medicine University, using the following items: inclusion of the pattern identification and its symptoms, importance of items, and validity of translation. Results: Six pattern identifications and 94 symptoms were selected from 45 references and translated into Korean. Four pattern identifications [pattern/syndrome of liver qi invading the stomach (肝胃不和), spleen-stomach weakness (脾胃虛弱), spleen-stomach dampness-heat (脾胃濕熱), and stomach yin deficiency (胃陰不足)] and 49 symptoms were then selected through the Delphi method by the expert committee. The final standard PIGERD tool was completed after the assessment of translation validity and reflection of individual opinions by the expert committee. This tool consists of 40 items including tongue and pulse diagnosis. The weighted value was also computed from assessment of the importance of items. Conclusions: We developed a standard tool for pattern identification of gastroesophageal reflux disease (PIGERD) to clarify the pattern identification of patients with gastroesophageal reflux disease for standardized diagnosis.

• Journal of Physiology & Pathology in Korean Medicine
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• v.25 no.4
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• pp.697-701
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• 2011

The purpose of this study was to fine proteins, which have significantly different level in plasma between Qi-deficiency and Fire-heat group of Korean Oriental Stroke pattern identification (PI) among Korean stroke patients. Eighteen stroke patients with Qi-deficiency and forty nine patients with Fire-heat, which had critical syndrome of each PI, were participated in this study. Plasma protein pattern were analyzed by SELDI-TOF MS using Q10 strong anion exchange chip and Mass spectral data (m/z) statistically determined. The expression level of proteins, which were different between Qi-deficiency and Fire-heat in the results by SELDI-TOF MS, were confirmed by western blot. As a result of analyzing plasma protein by SELDI-TOF MS, six protein peaks were significantly higher in Fire-heat group than Qi-deficiency group. Two peaks among of them, M15003 and M15745, were respectively identified as hemoglobin alpha and beta in previous study. Expression level of plasma free hemoglobin of Fire-heat group was also confirmed higher in Fire-heat group than in Qi-deficiency group. These findings suggest that plasma free hemoglobin is a candidate for discriminating Qi-deficiency and Fire-heat group according to pattern identification (PI) of stroke.

• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.5
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• pp.1071-1077
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• 2008

Hwa-byung is a form of psychogenic illness among people in Korea and is listed as a culture-bound syndrome of Korea in the DSM-IV. Despite increased clinical researches for Hwa-byung in the oriental medicine of Korea, there has been no agreement of pattern identification for Hwa-byung. The purpose of this study is to develop a standard instrument of pattern identification for Hwa-byung which will be applied to clinical research. The items and structure of the instrument were based on review of published literature. The advisor committee on this study was organized by 15 neuropsychiatry professors of 11 oriental medical colleges nationwide. The experts attended 2 consultation meetings and discussed developing the instrument. and we also took professional advices by e-mail. The results were as follows; First, we divided the symptoms and signs of Hwa-byung into five pattern identification - stagnation of liver Qi, flare-up of the liver fire, disharmony between heart and kidney, deficiency of both Qi and blood, malfunction of gallbladder due to phlegm stagnation. Second, we got the mean weights to each symptom of five pattern identification which had been scored on a 5-point scale - ranging from 0 to 4 by the 15 experts. Third, we made out the Korean instrument of the pattern identification for Hwa-byung. It was composed of 34 questions and decided on question-and-answer form. Though there are some limits in this study, the instrument of pattern identification for Hwa-byung is meaningful and expected to be applied to the subsequent research. And also, we hope to improve the instrument and make up for this study through various research and discussion.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.3
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• pp.425-429
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• 2003

Staphylococcus aureus is a major pathogen for cattle, causing various forms of subclinical and clinical mastitis and could be a causative agent of food poisoning, it produces various superantigenic exotoxins which have a great public health significance. A total of 72 S. aureus clinical isolates from dairy farms located in Kyunggi Province Korea were examined for the species identification by biochemical method, and for the detection of $\beta$-lactamase, enterotoxin and other exotoxins genes by PCR. The results of species identification by biochemical method agreed with those of PCR done with species specific primer STA-AU. $\beta$-lactamase is an enzyme closely associated with the resistance to antibiotic penicillin, which is an important means of treatment of mastitis, all the isolates were positive for the presence of genes encoding $\beta$-lactamase, which were reproduced in penicillin susceptibility disc assay. Six types of toxin genes, Staphylococcal enterotoxin (SE)A, SEB, SEC, SEE, toxic shock syndrome toxin (TSST-1) and exfoliative toxin A (ET A) were detected in 72 isolates by PCR associated genotypic method in this study, none of the isolates carried the genes for enterotoxin D (SED) and exfoliative toxin B (ETB). The occurrence rate of exotoxin genes rated as 12.5%, and the precision of the PCR identification results has been confirmed using the reference strains.

• Journal of Acupuncture Research
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• v.36 no.2
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• pp.100-106
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• 2019

Background: In Korean medicine, carpal tunnel syndrome is treated by stimulating the acupoints around the wrist. Although a deep understanding of anatomy and guidance is needed to stimulate these acupoints to avoid undesirable side-effects, currently there are no published guidelines for acupotomy treatment. The aim of this study is to evaluate the effectiveness and safety of fluoroscopy-guided acupotomy compared with conventional acupotomy treatment. Methods: This is a randomized, patient-assessor, patient blind, parallel clinical trial. A total of 30 patients will be enrolled at Wonkwang University Gwangju Hospital, and will be allocated to either an experimental group or a control group. The experimental group will be treated using fluoroscopy-guided acupotomy and the control group will be treated using the conventional acupotomy method. Results: The primary outcome measure will be identification of a cross-section area of the median nerve measured by ultrasonography, and the secondary outcome measure will be the alleviation of pain measured by the Visual Analogue Scale, improvement in the Nerve Conduction Study, Tinel test, Phalen's test, EuroQol 5-dimension scale, and Boston Carpal Tunnel Questionnaire score. Safety components will be measured by monitoring vital signs, electrocardiographs, blood tests, general chemical tests, urine tests and pregnancy tests. In addition, observations for adverse effects will be performed during the trial. Conclusion: This study will provide a more effective, and less harmful way of treating carpal tunnel syndrome compared with conventional acupotomy. Fluoroscopy-guided acupotomy will help practitioners to be accurate in direction and depth of the needle for treating carpal tunnel syndrome.

• Clinical and Experimental Pediatrics
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• v.57 no.8
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• pp.337-344
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• 2014

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.

• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.94-97
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• 2017

Trimethylaminuria (TMAuria), known as "fish odor syndrome," is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3). Most TMAuria cases are caused by missense mutations, but nonsense mutations have also been reported in these cases. Here, we describe the identification of a novel FMO3 gene mutation in a patient with TMAuria and her family. A 3-year-old girl presented with a strong corporal odor after ingesting fish. Genomic DNA sequence analysis revealed that she had compound heterozygous FMO3 mutations; One mutation was the missense mutation p.Val158Ile in exon 3, and the other was a novel nonsense mutation, p.Ser364X, in exon 7 of the FMO3 gene. Familial genetic analyses showed that the p.Val158Ile mutation was derived from the same allele in the father, and the p.Ser364X mutation was derived from the mother. This is the first description of the p.Ser364X mutation, and the first report of a Korean patient with TMAuria caused by novel compound heterozygous mutations.