• Journal of Genetic Medicine
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• 제4권1호
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• pp.15-21
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• 2007

Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

• 대한한방내과학회지
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• 제20권1호
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• pp.33-47
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• 1999

Through a literal study upon the cause of epilepsy between east and west medicine, next conclusion have been abtained. 1. The cause epilepsy in the east medicine, congenital embryo disease is due to insufficiency of heart(心虛) or deficiency of heart energy(心氣虛), secondary cause is wind -evil(風), frightness(驚), phlegm(痰), fire(火) 2. The cause epilepsy in the west medicine is divided congenital disease and secondary cause, one is excessive discharge of electricity of the brain have on a central nerve, a digestive organ, a respiratory organ, hamatogenous functions, the other is hereditary it and pathological it. 3. The epilepsy is concerned about the abnormality in five viscera, liver, spleen, heart. 4. In comparison east and west medicine of epilepsy is native factor, or innate primary cause is added to outer cause of wind-evil(風), cold-evil(寒), summer-heat(署), wetness(濕), and inner cause of frightness-terror(驚-恐), seven modes of emotions(七情) and the epilepsy is occurred phlegm(痰), fire(火). It similar that the epilepsy is occurred to structural and functional obstacle in western hereditary and primary cause.

• Pediatric Infection and Vaccine
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• 제16권2호
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• pp.215-219
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• 2009

5-14세에 호발하는 마이코플라즈마 폐렴은 20-25%에서 폐외 증상을 일으키는 것으로 알려져 있으며 이 중 혈액계 질환에는 용혈성 빈혈, 혈소판 감소증, 혈구포식세포 증식증(hemophagocytosis) 등이 있다. 마이코플라즈마 폐렴에서의 냉항체에 의한 자가면역성 용혈로 용혈성 빈혈이 발생할 수 있으며, 이 때 항체의 역가와 용혈의 정도에 상관관계가 있을 수 있다. 저자들은 마이코플라즈마 폐렴에 의해 용혈성 빈혈이 발현된 유전성 구상 적혈구증 1례를 경험하였기에 보고하는 바이다.

• Imaging Science in Dentistry
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• 제38권3호
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• pp.183-187
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• 2008

17-year-old and 14-year-old brothers were referred for evaluation of the cystic lesions on the mandibular anterior area with no symptoms. Neither their mother nor the brothers could recall any past trauma to those areas. Panoramic and intraoral radiographs revealed moderately defined cystic lesions on their mandibular anterior areas. Biopsies on both lesions revealed simple bone cysts. Hereditary cause or familial history of simple bone cysts could not be found in literature review. This case may have been a coincidence. However, further investigation is needed to find the cause of simple bone cysts occurring in patients those are closely related.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5609-5614
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• 2013

Background: Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering that the relationship between SNPs with diseases is a concern, many researchers believed that they offer valuable markers for identifying genes responsible for susceptibility to common diseases. In some cases, they are direct causes of human disease. One SNP can increase risk of cancer, but when considering the rate of overlap and frequency of DNA repair pathways, it might be expected that SNP alone cannot affect the final result of cancer, although several SNPs together can exert a significant influence. Therefore identification of these SNPs is very important. The most important loci which include mutations are: MLH1, MSH2, PMS2, APC, MUTYH, SMAD7, STK11, $XRCC_3$, $DNMT_1$, MTHFR, Exo1, $XRCC_1$ and VDR. Presence of SNPs in these genes decreases or increases risk of colorectal cancer. Materials and Methods: In this article we reviewed the Genes and SNPs associated with non-hereditary and hereditary of colorectal cancer that recently were reported from candidate gene y, meta-analysis and GWAS studies. Results: As with other cancers, colorectal cancer is associated with SNPs in gene loci. Generally, by exploring SNPs, it is feasible to predict the risk of developing colorectal cancer and thus establishing proper preventive measures. Conclusions: SNPs of genes associated with colorectal cancer can be used as a marker SNP panel as a potential tool for improving cancer diagnosis and treatment planning.

• Journal of Yeungnam Medical Science
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• 제37권4호
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• pp.341-344
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• 2020

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

• Clinics in Shoulder and Elbow
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• 제21권3호
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• pp.158-161
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• 2018

Hereditary multiple exostosis (HME) is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Although the lesions are benign in nature, exostoses are often associated with characteristic progressive skeletal deformity and displaying clinical symptoms such as mechanical irritation or impingement. We present the successful arthroscopic resection in a 24-year-old HME male with impingement syndrome and long head tendon tear of the biceps caused by osteochondroma arising from the distal clavicle.

• International Journal of Stem Cells
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• 제17권3호
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• pp.253-269
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• 2024

Pancreas serves endocrine and exocrine functions in the body; thus, their pathology can cause a broad range of irreparable consequences. Endocrine functions include the production of hormones such as insulin and glucagon, while exocrine functions involve the secretion of digestive enzymes. Disruption of these functions can lead to conditions like diabetes mellitus and exocrine pancreatic insufficiency. Also, the symptoms and causality of pancreatic cancer very greatly depends on their origin: pancreatic ductal adenocarcinoma is one of the most fatal cancer; however, most of tumor derived from endocrine part of pancreas are benign. Pancreatitis, an inflammation of the pancreatic tissues, is caused by excessive alcohol consumption, the bile duct obstruction by gallstones, and the premature activation of digestive enzymes in the pancreas. Hereditary pancreatic diseases, such as maturity-onset diabetes of the young and hereditary pancreatitis, can be a candidate for disease modeling using human pluripotent stem cells (hPSCs), due to their strong genetic influence. hPSC-derived pancreatic differentiation has been established for cell replacement therapy for diabetic patients and is robustly used for disease modeling. The disease modeling platform that allows interactions between immune cells and pancreatic cells is necessary to perform in-depth investigation of disease pathogenesis.

• Journal of Yeungnam Medical Science
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• 제41권4호
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• pp.269-278
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• 2024

Most cases of high blood pressure have no identifiable cause, termed essential hypertension; however, in approximately 15% of cases, hypertension occurs due to secondary causes. Primary aldosteronism (PA) and pheochromocytoma and paraganglioma (PPGL) are representative endocrine hypertensive diseases. The differentiation of endocrine hypertension provides an opportunity to cure and prevent target organ damage. PA is the most common cause of secondary hypertension, which significantly increases the risk of cardiovascular disease compared to essential hypertension; thus, patients with clinical manifestations suggestive of secondary hypertension should be screened for PA. PPGL are rare but can be fatal when misdiagnosed. PPGL are the most common hereditary endocrine tumors; therefore, genetic testing using next-generation sequencing panels is recommended. Herein, we aimed to summarize the characteristic clinical symptoms of PA and PPGL and when and how diagnostic tests and treatment strategies should be performed.

• 혜화의학회지
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• 제13권1호
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• pp.47-59
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• 2004

Objectives & Methods: We investigated 28 books to study etiology and pathology of Son-Bal Jeorim. Result and Conclusion 1. The eiology of Son-Bal Jeorim is same as it of Bee Jeung(痺症). 2. Generally speaking, the cause of Bee Jeung was distributed Wind(風), Coldness(寒), Wetness (濕) of meridian. Bee Jeung can be devided into SilBi(實痺) and HeoBi(虛痺). In SilBi(實痺) there are PungHanSeupBi(風寒濕痺) and YeolBi(熱痺). In HeoBi(虛痺), there are GiHyeolHeoBi(氣血虛痺), EumheoBi(陰虛痺) and YangHeoBi(陽虛痺). 3. Son-Bal Jeorim belong to peripheral neuropathy in western medicine. 4. Syndrome of acute motor paralysis with variable disturbance of sensory and autonomic function, subacute sensorymotor paralysis, syndrome of chronic sensorimotor polyneuropathy, neuropathy with mitochondrial disease, syndrome of mononeuropathy or nerve plexusopathy. 5. Peripheral neuropathy is caused by carpal tunnel syndrome, diabetic neuropathy, uremic neuropathy, hepatic neuropathy, hypothyroid neuropathy, hyperthyroid neuropathy, neuropathy due to malnutrition, neuropathy due to toxic material, neuropathy due to drug, paraneoplastic neuropathy, hereditary neuropathy, etc. 6. Cerebral apoplexy, myelopathy, peripheral circulatory disturbance, anxiety syndrome cause symptoms of peripheral neuropathy