• Journal of Genetic Medicine
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• v.12 no.1
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• pp.1-5
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• 2015

De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

• Annals of Clinical Neurophysiology
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• v.16 no.1
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• pp.1-7
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• 2014

Iron is an important element for brain oxygen transport, myelination, DNA synthesis and neurotransmission. However, excessive iron can generate reactive oxygen species and contribute neurotoxicity. Although brain iron deposition is the natural process with normal aging, excessive iron accumulation is also observed in various neurological disorders such as neurodegeneration with brain iron accumulation, Parkinson's disease, Alzheimer's disease, multiple sclerosis, Friedreich ataxia, and others. Magnetic resonance image (MRI) is a useful method for detecting iron deposits in the brain. It can be a powerful tool for diagnosis and monitoring, while furthering our understanding of the role of iron in the pathophysiology of a disease. In this review, we will introduce the mechanism of iron toxicity and the basics of several iron-related MRI techniques. Also, we will summarize the previous results concerning the clinical application of such MR imagings in various neurological disorders.

• The Journal of Korean Medical History
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• v.24 no.1
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• pp.73-96
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• 2011

The BianMaiFa chapter, which is the first chapter of SongBon ShangHanLun, is the scholarly description(專論) of the pulse and pathological mechanism but has not been studied and published yet. This study is about article 11-23 which is the second part of The BianMaiFa chapter. We compared the original texts within the editions, comparing and analyzing the annotations of successive dynastic medical group. The articles of The SongBon ShangHanLun BianMaiFa chapter 11-23 is consisted as is shown: article 11 12 13 state about a dignosis of yin-yang, deficiency-excess, fluid-humor from difference of a pulse shape and a sign of recovery from a disease, article 14 states about a prognosis of a disease according to a pulse, article 15 states about a pulse from which we predict a recovery, article 16 states about normal pulse according to season, article 17 states about ups and downs of a disease according to yin-yang of day and night, article 18 states about a location of a disease in connection with a pulse, article 19 states about a pathological mechanism of a diarrhea through a anterior tibial pulse(趺陽脈), a lesser yin pulse(少陰脈), article 20 states about a cause of disease, a symptom, a therapy about a floating and tight pulse(浮緊脈), article 21 states about a pathological mechanism of symptoms through a anterior tibial pulse(趺陽脈), article 22 states about a pulse, a pathological mechanism, symptoms caused by erroneous treatment, article 23 states about a pulse, a symptom, a therapy with internal heat. The BianMaiFa chapter 11-23 discussed a diagnosis, a prognosis of a disease, understanding of pathological mechanism through pulse. And The BianMaiFa suggests a various use of pulse.

• The Journal of Korean Medicine
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• v.21 no.3
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• pp.3-8
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• 2000

1. Definition : Bee-venom therapy does not involve actual bee-stings: it is a treatment method with acquired bee-venom extract through the electric stimulus on the bee, It is injected subcutaneusly on the acupuncture point after refining, according to the diagnosis of constitution and disease. 2. History : Around 2000 B.C., records that Bee-venom was used for therapy were written in the medical book of Babylonia and Papirus of ancient Egypt. Hippocrates, who is called the father of Medicine, said that Bee-venom is Arcanum, which means mysteric medicine. In Oriental medicine, B.C. 200, there was a clinical record that the meat suspended in front of the bee house on the tree in order to get bee-venom, was attached on the lesion. 3. Mechanism of Action : There are two aspects: 1) The effect of stimulating acupunture point It is similar to the chemical moxa. I think that there are several methods of stimulating the acupuncture point： For example, a simple needle is a mechanical stimulus, Moxa is a heating stimulus and electric and Raser acupunture etc. And another stimulus: in the ancient orient, a chemical stimulus called Chungu(Tianjiu), is attached to the lesions by using grinded insects (ex. Mylaris phalerate PALL.) which have toxin. So Bee venom therapy is similar to this. 2) The effect of biochemical ingredients Bee venom consists of 40 kinds of ingredients. For example, me Iii tin, Apamin, Pospholipase A2, MCD peptide, Adolapin and so on. They have effects which have been proven through experimentation l) tonifying mechanism of the body through increasing hormon secretion 2) tonifying immune system through proliferation of WBC, lymphocytes, macrophage 3) anti-inflammatory reaction Therefore Bee venom therapy is the representative 3rd Medicine, which combined East & West medicine. 4. Application of disease : L.B.P and HIVD, O.A, R.A, degenerative arthritis, shoulder pain and other pain diseases. 5. Therapic methods : According to constitution and disease, proper concentration of bee venom is injected on acupunture point, 2 times a week. Generally one term is consisted of 15times. 6. Contraindication : Heart disease, TBc, DM, kidney disease(nephritis), pregnancy, woman in menstruation 3-4 persons per 100,000 persons may have severe allergic reaction.

• KSII Transactions on Internet and Information Systems (TIIS)
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• v.17 no.2
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• pp.504-519
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• 2023

Heart disease is becoming the top reason of death all around the world. Diagnosing cardiac illness is a difficult endeavor that necessitates both expertise and extensive knowledge. Machine learning (ML) is becoming gradually more important in the medical field. Most of the works have concentrated on the prediction of cardiac disease, however the precision of the results is minimal, and data integrity is uncertain. To solve these difficulties, this research creates an Integrated Accurate-Secure Heart Disease Prediction (IAS) Model based on Deep Convolutional Neural Networks. Heart-related medical data is collected and pre-processed. Secondly, feature extraction is processed with two factors, from signals and acquired data, which are further trained for classification. The Deep Convolutional Neural Networks (DCNN) is used to categorize received sensor data as normal or abnormal. Furthermore, the results are safeguarded by implementing an integrity validation mechanism based on the hash algorithm. The system's performance is evaluated by comparing the proposed to existing models. The results explain that the proposed model-based cardiac disease diagnosis model surpasses previous techniques. The proposed method demonstrates that it attains accuracy of 98.5 % for the maximum amount of records, which is higher than available classifiers.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.436-439
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• 2015

The majority of clinical studies on moyamoya disease (MMD) have focused on anterior circulation. The disease involvement of posterior circulation in MMD, mainly in the posterior cerebral artery (PCA), has been mentioned since the early 1980s, and it has been repeatedly emphasized as one of the most important factors related to poor prognosis in MMD. However, its clinical features and outcome have only been elucidated during the last few years. In this review, the angiographic definition of PCA stenosis is summarized. The clinical features are elucidated as being either early-onset or delayed-onset, according to the time of PCA stenosis diagnosis in reference to the anterior circulation revascularization surgeries. The surgical strategy and hypothesis on the mechanism of PCA stenosis is also briefly mentioned. It appears that some MMD patients may show PCA stenosis during the early or late course of the disease and that the presenting symptoms may vary. Because the hemodynamic compromise caused by PCA stenosis may respond well to surgical treatment, clinicians should be aware of the condition, especially during follow-up of MMD patients.

• BMB Reports
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• v.40 no.2
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• pp.135-141
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• 2007

Conjugation of the methyl group at the fifth carbon of cytosines within the palindromic dinucleotide 5'-CpG-3' sequence (DNA methylation) is the best studied epigenetic mechanism, which acts together with other epigenetic entities: histone modification, chromatin remodeling and microRNAs to shape the chromatin structure of DNA according to its functional state. The cancer genome is frequently characterized by hypermethylation of specific genes concurrently with an overall decrease in the level of 5-methyl cytosine, the pathological implication of which to the cancerous state has been well established. While the latest genome-wide technologies have been applied to classify and interpret the epigenetic layer of gene regulation in the physiological and disease states, the epigenetic testing has also been seriously explored in clinical practice for early detection, refining tumor staging and predicting disease recurrence. This critique reviews the latest research findings on the use of DNA methylation in cancer diagnosis, prognosis and staging/classification.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.sup1
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• pp.127-135
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• 2008

According to the hygiene hypothesis, westernized and urbanized life style leads to the increase of allergic disease. This hypothesis supports the use of probiotic therapy for the prevention or treatment of food allergy. The probiotics which contains potentially beneficial microorganism have been used for the treatment of some gastrointestinal disorders and atopic disease as dietary supplements. Many results of studies support the immunologic bases of probiotics therapy. The most important mechanism is that probiotics suppress Th2-skewed immunity as the stimulation of regulatory T cell. The difficulties of diagnosis of food allergy, variable symptoms, many kinds of microorganism, diet style and non-standardized study designs are attributed to the variety and controversy of the effectiveness of probiotics in food allergy with infant and children. More studies is needed to confirm the efficacy of probiotics in infant and children with food allergy.

• Journal of Physiology & Pathology in Korean Medicine
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• v.24 no.1
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• pp.35-41
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• 2010

Dang Jonghae put in order symptoms to volume one of Uihakgyeonneung by the attack region of illness, to volume two of Uihakgyeonneung by systemic symptoms, and ones peculiar to gynecology and pediatrics to volume three of Uihakgyeonneung. He presented the basis of a differential diagnosis by Yin-Yang, heat and cold, weakness and firmness. He seized the cause and mechanism of a disease obviously and took measures to cope with a disease. These were the result of his rationality that he integrated the Chinese and Western medicine. That is to say, he summarized the voluminous medical books and extracted the essential ones to utilize conveniently, and he made us grasp the essence of medicine to make symptoms concrete. Therefore, we can study this book as the fundamental courses to make use of basic research and clinical medicine.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.8-11
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• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.