• Journal of Gastric Cancer
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• v.10 no.4
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• pp.149-154
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• 2010

Purpose: Replication error is an important mechanism in carcinogenesis. The microsatellite instability (MSI-H) of colorectal cancers is associated with the development of multiple cancers. The influence of MSI-H on the development of multiple gastric cancers in sporadic gastric cancer patients has not been defined. This study was performed to reveal the association between the clinicopathologic features and MSI in sporadic gastric cancers. Materials and Methods: Between July 2004 and March 2009, the clinicopathologic characteristics, including MSI status, were evaluated in 128 consecutive patients with sporadic gastric cancers. None of the patients had hereditary non-polyposis colorectal cancer of familial gastric cancer. The markers that were recommended by the NCI to determine the MSI status for colorectal cancers were used Results: MSI-H cancers were found in 10.9% of the patients (14/128). Synchronous gastric cancers were shown in 4 patients (3.1%). Synchronous cancers were found in 2 of 14 patients with MSI-H gastric cancer (14.3%) and 2 of 114 patients with MSS gastric cancer (1.8%; P=0.059, Fisher's exact test). Among the patients with synchronous cancer 50% (2/4) had MSI-H cancer, but 9.7% of the patients (12/124) without synchronous cancer had MSI-H cancer. MSI-H (RR, 24.7; 95% CI, 1.5~398.9; P=0.024) was related with to synchronous gastric cancer, but age, gender, family history, histologic type, location, gross morphology, size, and stage were not related to synchronous gastric cancer. Conclusions: MSI is associated with the intestinal-type gastric cancer and the presence of multiple gastric cancers in patients with sporadic gastric cancer. Special attention to the presence of synchronous and the development of metachronous multiple cancer in patients with MSI-H gastric cancer is needed.

• Advances in pediatric surgery
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• v.6 no.2
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• pp.95-99
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• 2000

Thyroid carcinoma is relatively rare in children. Eight cases of thyroid carcinoma were among 18 patients operated upon for thyroid tumors at Pediatric Surgery, Asan Medical Center in 11 years' period between 1989 and 2000. Five patients were boys and three were girls. The age distribution ranged from 10 to 14 years with a median age of 11.6 years. We studied clinical presentations, diagnostic workup, pathology, treatment, and follow-up (recurrence, mortality, and survival). All patients presented with anterior neck mass but one with multiple cervical lymph nodes enlargement. Familial history of thyroid cancer was seen in one case. All patients had a cold nodule by 1-131 thyroid scan. Fine needle aspiration (FNA) biopsy was performed in all patients. The right lobe was involved in four patients and the left lobe in two. Two had both lobes involvement. Pathologically, six cases were papillary carcinoma, one was follicular carcinoma, and one insular carcinoma. Four patients underwent unilateral lobectomy and isthmectomy. Total thyroidectomy was performed in three patients. The insular carcinoma case was preoperatively diagnosed as follicular neoplasm by FNA. After confirmation of the pathology by initial right thyroid lobectomy, total thyroidectomy was subsequently done. Cervical lymph node metastases were presented in three cases (37.5%), and lung metastasis in two cases (25%). Three patients received postoperative I-131 ablation. After a median follow-up of 53 months, all patients were alive without evidence of recurrence. In conclusion, thyroid carcinoma in children is frequently associated with lymph nodes involvement and distant metastasis, however, the prognosis is relatively good.

• Annals of Clinical Neurophysiology
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• v.9 no.1
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• pp.5-10
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• 2007

Background: Bell's palsy (BP) is a self-limited rapid onset facial palsy that is non-life-threatening and has a generally favorable prognosis. Facial paralysis can be caused by numerous conditions, all of which should be excluded before the diagnosis of BP is reached. The etiopathogenesis and clinical course of BP are uncertain. So we analyzed the epidemiology and clinical course of BP patients. Methods: The subjects include 100 cases of BP examined during the period of 18 months. Careful clinical history, neurologic examinations, laboratory tests, electrophysiologic studies, and brain imaging were performed. Follow-up examinations were done once a week during the first month and subsequently once a month until normal function was restored or for up to 3 months. Facial nerve function was assessed by House-Brackman (HB) facial nerve grading scale and electrophysiologic studies. Results: Except 13 recurrent BP patients, we analyzed 87 BP patients. Forty-four (50.6%) were men and 43(49.4%) were women and the mean age was 51.0(${\pm}16.6$) years. Three (3.4%) patients showed a familial tendency. The initial examination within 1 week after attack revealed 35.2% was below HB grade 4 and 64.8% was above grade 3. The associated symptoms are as follows; postauricular pain, increase tear flow, taste change, hyperacusis and drooling. The initial facial nerve conduction study and blink reflex within 1 week after attack showed abnormal findings in 12.6% and 100%, respectively. Brain MRI was performed in 59(67.8%) patients and showed abnormal enhancement of affected nerve in 57(96.6%). Follow-up examination showed that 78.2% of the patients partially improved within 4 weeks and completely improved within 3 months. Finally 80.5% of the total patients obtained normal function in 3 months. Conclusions: We report epidemiologic, clinical, electrophysiologic and radiologic characteristics of BP patients.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.31 no.1
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• pp.71-80
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• 2018

Objectives : The purpose of this study is to evaluate the clinical aspects of patients with Soyangin vitiligo. Methods : This clinical investigation was made with 148 Soyangin Vitiligo patients who visited Haneulmaeum Oriental Medicine Clinic (Incheon) from July 1st 2007 to June 30th 2017. Results & Conclusions : 1. There were 73 males(49.3%) and 75 females(50.7%). 2. The Mean age at the first visit was 36.1 years(male: 36.4, female: 35.8). 3. The Mean age of onset was 27.9 years(male: 28.6, female: 27.4). 4. The mean duration of the disease was 8.0 years(male: 7.8, female: 8.3). 5. Of the 148 patients, 41(27.7%) had the symmetric lesions and 107(72.3%) had the asymmetric vitiligo lesions. Of the patients with asymmetric vitiligo lesions, 46(31.1%) had the localized lesions and 26(17.6%) had the segmental lesions and 35(24.3%) had the multiple lesions. 6. The most common site of initial involvement of the vitiligo was the face (39.2%). 7. The most common site of the vitiligo lesions was the face(49.3%). 8. Familial history was obtained in 12 patients(8.1%). 9. There was no known precipitating factor in most cases(89.4%). 10. Thyroid disease was the most common associated disease. 11. The progression of vitiligo was present in 92 patients(62.2%).

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• Journal of Preventive Medicine and Public Health
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• v.37 no.2
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• pp.166-173
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• 2004

Objectives : Cervical cancer is the second most frequent cancer among women in Busan. The Pap smear test could have a significant effect on detecting cervical cancer, and enhancing their rate of use is an important strategy for reducing the incidence and mortality of cervical cancer. This study aimed to evaluate the factors associated with the past use of the Pap smear test in Korean women. Methods : A population-based survey was carried out in Busan between November 1999 and March 2000. 1,673 participants were randomly selected from 2,684 women in Busan, using a 2-stage cluster sampling method, and interviewed in their homes. Their socio-demographic characteristics, smoking, drinking, familial cancer history, Pap smear screening history, reproductive and menstrual factors, sexual habits and use of contraceptive methods data were collected by a trained interviewer using a questionnaire. The use of the screening test was defined by a self-report from the participants on how many times they had had a Pap smear test in their lifetime, and when they had received their latest examination. Results : Of the 1,673 respondents (62.3% response rate), 57.6% had had a Pap smear test during her life (mean number, 2.3). Among the health examination participants(1,064), 961(90.3%) reported having sexual experience and 70.9% of these had had a Pap smear test. In a multiple logistic regression analysis, statistically significant relationships were observed for age groups and the Pap smear test rate (odds ratio, OR for 35-44 years=2.45; OR for 45-54 years=3.41; OR for 55 years=2.60; reference, under 34 years). The married or cohabiting women were more likely to have used the Pap smear test than those separated or widowed (OR=1.73). Among the reproductive behavioral measures, the number of births (OR for 3 births=4.22; OR for 2 births=3.95; OR for 1 births=3.38; reference, 0 births) and husband's extra-marital affairs (OR=1.50) were associated with the rates of use of Pap smear tests. Conclusion : It appears that the most important contributing factors to cervical cancer screening were age, marital status and number of births. A positive association was also observed for the husband's extra-marital affairs. This study enabled us to systematically assess the relationship between Pap smear rates and risk factors for cervical cancer. It is hoped that this study will make a significant contribution to the accumulating scientific evidence on the identification of factors associated with cervical cancer screening in Korea.

• The Journal of the Korean life insurance medical association
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• v.2 no.1
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• pp.218-232
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• 1985

Congenital hereditary disease is in devided into Infantile type and Adult type, Adult type is hidden for many years and keeps normal renal function till middle age. Cyst is stimultaneously made in both sides and becomes lowered in renal function in 30's to 40's. Infantile type is generally born with the big kidneys, renal failure, undergrowth of intrahepatic bile duct. Both infantile and childhood type have ureteral dilatation and portal hypertension In infantile type, it is mostly developed into renal failure, but generally faces death as a result of hepatic disease. The reason of death is that an abnormal condition of recessive autosome affects the liver and kidneys. While the incidence of infantile type is rare as $0.017{\sim}0.07%$ and it is autosomal recessive heredity, Adult type can rarely exist in infantile period. Though it exists in middle period, 50% of patients can live for 2-4 years after the first symptom incidence and 25% can less than 2 years. It is hard to cure completely in medicine and surgery. Three difficulties in familial incidence are comparative decrease of the donor who have no affection on renal transplantation. For another consideration it is to show the family history for several generations. We, the Med. Dept. of Dae Han Kyouk Life Insurance Co. Ltd., used the ultrasonic apparatus in diagnosing the one case of adult type bilateral polycystic kidney and then doubted the family history. As a result of inspecting the family we experienced bilateral polycystic kidney from 3 persons out of 4 who can be inspected. The results are as follows: 1) We could confirm the polycystic kidney from 3 persons out of 4(75%). 2) Then when they came for check up, chief complaint was the pain in all 3 cases(100%). 3) Accompanying disease was hypertension in 2 cases(67%). 4) In early disease incidence, we couldn't observe the specific change in pathological opinion. 5) All 3 cases are not accompanied with cystic lesion in liver, spleen, pancreas.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.6
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• pp.2675-2680
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• 2014

Background: To investigate differentiated thyroid cancer risk factors in natives of French Polynesia is of interest because of the very high incidence of this cancer in the archipelago. Materials and Methods: To assess the role of various potential risk factors of thyroid cancer in the natives of French Polynesia we performed a case-control study. The study included almost all the French Polynesians diagnosed with differentiated thyroid carcinoma between 1981 and 2003 (n=229) and 373 French Polynesian control individuals from the general population without cancer. Results: Thyroid radiation dose received from nuclear fallout before the age of 15, a personal history of neck or/and head medical irradiation, obesity, tallness, large number of children, an artificial menopause, a familial history of thyroid cancer, a low dietary iodine intake, and having a spring as the main source of drinking water were found to be significant risk factors. No roles of smoking habits, alcohol consumption, iodine containing drugs, and exposure to pesticides were evidenced. Conclusions: Except for smoking, differentiated thyroid carcinoma risk factors in natives of French Polynesia are similar to those in other populations. Our finding on the role of having a spring as a drinking water origin is coherent with some other studies and could be due to geological factors.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.98-105
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• 1993

Objective ' The purpose of this study was to investigate the behavioral characteristics of children with allergic disease Method : In a population of 80 children who were registered at a pediatric allergic clinic in Kangnam St Mary's hospital, parents completed a standardized child behavior checklist (CBCL) to evaluate their children Clinical factors associated with allergy were examined in relation to the rated scores of CBCL Results : Allergic children were rated significantly more aggressive and delinquent, and less withdrawned on the CBCL rating when compared to the age- and sex-matched normal control children. Within the allergic population, children who had family history of allergic disease had higher scores of CBCL in hyperactivity and aggressive behavior than the children without family history. Conclusion : The results were discussed with the respect to familial traits of allergy and temperament as risk factors for the emergence of behavior problems in childhood allergy