• Journal of Genetic Medicine
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• v.4 no.1
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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.

• The Journal of Internal Korean Medicine
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• v.20 no.1
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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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• v.16 no.2
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• pp.215-219
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• 2009

Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in children, with a peak incidence at 5-14 years. Extrapulmonary manifestations occur in 20-25% of patients with M. pneumoniae infection. Most auto-antibodies that cause immune hemolytic anemia in humans are cold agglutinins. The formation of cold agglutinins is frequently observed during M. pneumoniae infections, and cold agglutinin disease usually occurs during M. pneumoniae infections. Nevertheless, severe hemolysis is exceptional. If a patient has any underlying disease related to hemolysis, it is possible to accelerate hemolysis. Hereditary spherocytosis is a common cause of hereditary hemolytic anemia resulting from red blood cell membrane defects. Hemolysis of red cells may result from corpuscular abnormalities or extracorpuscular abnormalities, such as immune or non-immune mechanisms. We report a case of hereditary spherocytosis associated with severe hemolytic anemia due to Mycoplasma pneumonia.

• Imaging Science in Dentistry
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• v.38 no.3
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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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• v.14 no.10
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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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• v.37 no.4
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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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• v.21 no.3
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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.

• Journal of Haehwa Medicine
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• v.13 no.1
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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

• Tuberculosis and Respiratory Diseases
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• v.52 no.5
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• pp.545-549
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• 2002

A pulmonary arteriovenous fistula is an uncommon malformation. In pregnancy altered hemodynamics and hormones cause changes in a PAVM(pulmonary arteriovenous malformation) that predispose them to deterioration. Therefore, a PAVM can cause serious and life-threatening complications in pregnancy. Death often results from a cerebral abscess and a rupture of the malformation with a massive hemorrhage. Recently, we experienced a case of a multiple PAVM in pregnant 38 year old woman, which could not be observed in the old chest PA, 1 year ago. The PAVM was confirmed by CT and was angiography and treated by percutaneous embolization. The patient is suspected to have HHT (Hereditary hemorrhagic telangiectasia).

• Molecules and Cells
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• v.23 no.1
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• pp.39-48
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• 2007

Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are frequent forms of genetically heterogeneous peripheral neuropathies. Reciprocal unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-p12 is a major cause of CMT type 1A (CMT1A) and HNPP. The importance of a sensitive and rapid method for identifying the CMT1A duplication and HNPP deletion is being emphasized. In the present study, we established a molecular diagnostic method for the CMT1A duplication and HNPP deletion based on hexaplex PCR of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S918, D17S4A and D17S2230). The method is highly time-, cost- and sample-saving because the six markers are amplified by a single PCR reaction and resolved with a single capillary in 3 h. Several statistical and forensic estimates indicated that most of these markers are likely to be useful for diagnosing the peripheral neuropathies. Reproducibility, as determined by concordance between independent tests, was estimated to be 100%. The likelihood that genotypes of all six markers are homozygous in randomly selected individuals was calculated to be $1.6{\times}10^{-4}$, which indicates that the statistical error rate for this diagnosis of HNPP deletion is only 0.016%.