• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Journal of Preventive Medicine and Public Health
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• 제20권2호
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• pp.205-214
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• 1987

For the purpose of evaluating the effect of noise induced hearing loss on the blood pressure, a cross-sectional study was conducted in 481 manufacturing industrial workers in Pusan area consisted of 275 workers from noisier plant (over 90 dB(A), high exposed group) and 206 workers from less noisy plant (below 85 dB(A), low exposed group) from April to Decepmber in 1985. The summarized results were as follows; 1) The degree of hearing loss according to the audible frequency was most notable in 4,000 Hz. 2) The prevalence of hypertension was 14.8% in total examined subjects. And also in 40 dB(A) hearing lost workers, there was no significant difference between high exposed group as 15.5% and low exposed group as 15.8%. 3) In 3 models analyzed by multiple regression technique to obtain the complexed extents of risk factors related to the diastolic blood pressure, especially model III which contain age, body mass index, smoking, alcohol and family history of hypertension, duration of work, noise exposure level and degree of hearing loss in high exposed group was most remarkable compared to the others. 4) The most potential predictor related to the diastolic pressure in high exposed group was the degree of hearing loss. And the next were body mass index, familial history of hypertension and age in order. But in the case of low exposed group, the potential predictors were body mass index, age and familial history of hypertension.

• Asian Pacific Journal of Cancer Prevention
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• 제13권5호
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• pp.1767-1770
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• 2012

Background: The Asia Pacific consensus for colorectal cancer (CRC) recommends that screening programs should begin by the age of 50. However, there have been reports about increasing incidence of CRC at a younger age (i.e. early-onset CRC). Little is known about the features of early-onset CRC in the Vietnamese population. Aim: To describe the clinical, endoscopic and pathological characteristics of early-onset CRC in Vietnamese. Method: A prospective, cross-sectional study was conducted at the University Medical Center from March 2009 to March 2011. All patients with definite pathological diagnosis of CRC were recruited. The early-onset CRC group were analyzed in comparison with the late-onset (i.e. ${\geq}$ 50-year-old) CRC group. Results: The rate of early-onset CRC was 28% (112/400) with a male-to-female ratio of 1.3. Some 22.3% (25/112) of the patients only experienced abdominal pain and/or change in bowel habit without alarming symptoms, 42.9% (48/112) considering their symptoms intermittent. The rate of familial history of CRC in early-onset group was significantly higher that of the late-onset group (21.4% versus 7.6%, p<0.001). The distribution of CRC lesions in rectum, distal and proximal colon were 51.8% (58/112), 26.8% (30/112) and 21.4% (24/112), respectively; which was not different from that in the late-onset group (${\chi}2$, p = 0.29). The rates for poorly differentiated tumors were also not significantly different between the two groups: 12.4% (14/112) versus 8.3% (24/288) (${\chi}2$, p = 0.25). Conclusion: A high proportion of CRC in Viet Nam appear at an earlier age than that recommended for screening by the Asia Pacific consensus. Family history was a risk factor of early-onset CRC. Diagnosis of early-onset CRC needs more attention because of the lack of alarming symptoms and their intermittent patterns as described by the patients.

• Journal of Acupuncture Research
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• 제18권6호
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• pp.14-26
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• 2001

Objective : Stroke is a serious disease despite of the recent improvement in medical treatment. Hence, identification of modifiable risk factors for stroke is important. This case-control study was done to demonstrate that relation between risk factors(familial history of stroke, hypertension, diabetes mellitus and heart disease), lifestyle factors(alcohol drinking, psychologic stress, exercise, liking salty and hot foods) and the incidence of stroke. Methods : We interviewed 214 stroke patients(116 in men, 98 in women) as case group and 205 non-stroke patients(118 in men, 87 in women) as control group from January 1, 2001 to July 31, 2001 in oriental hospital of Kyung Hee medical center. We investigated risk factors, lifestyle factors of stroke in all patients and stroke-subtype of case group. Stroke-subtype consists of cerebral infarction and cerebral hemorrhage. Results : The percentage of familial history in the case group was significantly higher than that of control group, especially in the patients of cerebral infarction. The most ordinary preceding disease was hypertension. And the preceding disease of hypertension, diabetes mellitus was associated positively with the risk of stroke. The percentage of exercise was significantly higher than that of control group. The percentage of alcohol drinking, psychologic stress within 1 week and liking salty and hot foods was higher in the case group. However, there was no significant difference between case and control group. Conclusion : According to the above results, we found that familial history of stroke, preceding disease(hypertension, diabetes mellitus) affected to the incidence of stroke and exercise might be predisposing risk factors for stroke.

• Journal of Chest Surgery
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• 제27권7호
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• pp.631-633
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• 1994

Congenital bronchoesophageal fistula is a rare anomaly that can appear in adult uncommonly. Especially sick sinus syndrome with bronchoesophageal fistula is very uncommon.The patient was 53 years old male who admitted for chronic coughing recurrent lobar pneumonia on RLL since few years ago. And he had familial history of sick sinus syndrome.We confirmed the fistula by barium swallow examination and performed ligation of the fistula and pacemaker implantation.

• 대한치과의사협회지
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• 제12권10호
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• pp.767-770
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• 1974

A 12 years old patient having rampant dental caries on permanent dentition has been treated under operative procedures. In addition to this operative treatment the nutritional survey and the caries activity was checked, and performed the oral hygiene instruction to the patient. As the consequences of above procedures the following results were obtained: 1. The familial history and eating habits checkings were helpful for better dental health guide and caries control. 2. The restriction of mono & disaccharide intake and topical application of 8% stannous fluoride at least two times revealed excellent control effect for recurrent dental caries.

• 한국건강관리협회지
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• 제2권2호
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• pp.137-148
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• 2004

Objective : To identify the risk factors for postmenopausal osteoporosis in Korea Materials and methods : Bone mineral density (BMD) at the lumbar spine and femoral neck was measured by dual energy X-ray absorptiometry in 808 apparently normal postmenopausal Korean women. Questions about life style, demographic parameters, medical history and social habits etc. were asked on these women; 2ll women with normal bone mineral density, and 597 women with osteopenia or osteoporosis. Results 'Age of >50 years, low body mass index (BMI; <18.5 kg/m2), long duration of menopause(>10 years), and previous history of fracture were associated with increased prevalence of osteopenia or osteoporosis. Women without the outside activity also showed a higher frequency of low bone mass, Risk for osteopenia or osteoporosis was low in women with high BMI (>23 kg/m2) and women with job. The prevalence of low bone mass appeared to be independent of the following parameters: socioeconomic status, familial history, smoking, drinking, exercise, previous use of oral contraceptive, coffee or milk consumption, and degree of sunlight exposure. Conclusion 'Age, BMI, duration of menopause, previous history of fracture and degree of outside activity are the risk factors for postmenopausal osteoporosis in Korea.

• Asian Pacific Journal of Cancer Prevention
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• 제13권6호
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• pp.2675-2679
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• 2012

Introduction: Annually a considerable number of people die because of breast cancer, a common disease among women also in Iran. Identifying risk factors and susceptible people can lead to prevention or at least early diagnosis. Among susceptibility risks, 5-10% of patients have a family history predisposing factor which can influence the risk of incidence among the family. Having a registry program can be a more practical way to screen high risk families for preventive planning. Method: Based on inclusion criteria, a questionnaire was prepared and after a pilot study on a small number of patients, actual data were collected on 400 patients and processed in SPSS 16.0. Results: Totally, 28.2%of the patients were younger than 40 years old and 36.8% had the included criteria for familial breast cancer (FBC). 102 patient's samples could be compared for receptor presentation. Similar to other studies, the number of triple negative breast cancers increased as the age decreased. Conclusion: The high percentage of patients with FBC among 400 cases in this study demonstrates that in order to design an infrastructural diagnostic protocol and screening of patients with FBC, a precise survey related to frequency and founder mutations of FBC is needed nationwide.

• Asian Pacific Journal of Cancer Prevention
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• 제15권16호
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• pp.6945-6948
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• 2014

Background: Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. Materials and Methods: 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Results: Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Conclusions: Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

• 대한소아치과학회지
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• 제31권4호
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• pp.696-700
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• 2004

치은 섬유종증은 유리 치은과 부착 치은이 점진적으로 증식되는 비염증성 질환이다. 대부분 가족력이 있으며 영구치 맹출과 함께 발병하지만 유치 맹출시기에 드물게 출생 시부터 나타나기도 한다. 본 6세 여아의 경우 태어날 때부터 치은의 일부가 증식되어 있었고 가족력 및 치은 증식을 유발하는 약물을 복용한 병력은 없었다. 구강내 검진 시 섬유성 치은 증식 이 관찰되어 절제 생검을 시행하였고 그 결과 치은 섬유종증으로 진단하였다. 치은 섬유종증의 치료는 치은 절제술과 철저한 구강 위생의 관리이다. 그러나 치료 후 재발성 때문에 치료시기에 대해서는 논란 중이다. 일반적으로 영구치가 모두 맹출 한 이후에 치료할 것을 추천하지만 조기 치료는 구강의 기능 및 환아의 심미적, 심리적인 문제점을 개선시켜 주는 장점이 있다.