• Title/Summary/Keyword: familial history

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Treatment and Characteristics Related to Patients with Hemophilia (혈우병 환자의 질병관련 특성과 관리실태)

  • Kang, Hyun-Sook;Kim, Won-Ok;Yoo, Myung-Chul;Choi, Jin-Yi
    • Journal of muscle and joint health
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    • v.13 no.2
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    • pp.119-129
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    • 2006
  • Purpose: The purpose of this study was to analyze current treatments and characteristics of patients with hemophilia. Method: research design is a descriptive study exploring the current treatments, accompanied disorders, features related to the disease and subjects' social-demographic characteristics. The sample consisted of 218 hemophilia patients registered at Korea Hemophilia Foundation. Results: 80.3% of the subjects were diagnosed of this disease before the age of 10. 64.7% of them had a hemophilia familial history. 74.3% of them had disabilities. Main characters related to the disease were lack of the 8th factor and bleeding tendencies. Levels of severity had significant relationship with the number of hemorrhagic experiences. A common comorbidity found was hepatitis C. A treatment agent frequently use was GREENMONO INJ. and most patients injected it by themselves. 47.7% of the subjects used a dosage of 100 unit, and 45.4% of them injected to once a week. Conclusion: These data will be used as valuable knowledge for planning a patient care and managing their symptoms.

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A REVIEW ON CHERUBISM (가족성 섬유성 이형성증(Cherubism)에 대한 고찰)

  • Kim, Kyung-Deok;Kim, Shin;Jeong, Tae-Sung
    • Journal of the korean academy of Pediatric Dentistry
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    • v.24 no.4
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    • pp.751-757
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    • 1997
  • Cherubism is an uncommon, benign fibrosseous lesion of the jaws that causes a progressive, painless, symmetrical expansion of the maxilla and mandible. It's autosomal dominance pattern of inheritance has been confirmed. A characteristic deformity is specific to this disease: hypertrophy of the mandible, swelling of cheeks and sometimes hypertrophy of maxilla with eyes tending to look up ; that looks like the Renaissance cherubs. It usually makes figures during childhood between 2-4 years of age and progresses until puberty, after which it spontaneously regresses 10 most cases. As a result of this case review, the management strategies for cherubismic children in standpoint of pediatic dentistry can be summarized as follows: 1. It can be detected early in childen through its characteristic clinical and radiographic features, which is confirmed by histopathological examination and familial history. 2. The supervision of arch space is required against its frequent sequelae, the early missing of primary teeth and eruption disorders of permanent teeth. 3. It is highly recommended to continue the periodic check-up with clinical and radiographic examination, leading to surgical intervention in cases of aggravation.

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Familial Clustering and Its Associated Factors in Carriers of Hepatitis B Surface Antigen (B형 간염의 가족집적성과 전파경로에 관한 연구)

  • Rhee, Jung-Ae;Lee, Myung-Hak
    • Journal of agricultural medicine and community health
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    • v.17 no.2
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    • pp.129-136
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    • 1992
  • To evaluate the possible route of intrafamilial transmission among carriers of hepatitis B surface antigen ($HB_sAg$), epidemiologic and serologic data were obtained on 107 household contacts of 35 carriers of HBsAg and on 71 household contacts of 25 controls who were negative for serologic markers of hepatitis B virus. The HBsAg prevalence was 26.5% among the contacts of carriers compared to 0.0% among the contacts of controls. And the combined prevalence for all hepatitis markers was 48.5% among the contacts of carriers compared to 26.0% among the contacts of controls(p<0.05). Especially the offspring of carriers showed significantly higher risk in the combined prevalence for all hepatitis markers (p<0.05). There were no significant relationship between HBV infection and past history like acupuncture, transfusion, operation and tattooed. Factors associated with the risk of intrafamilial transmission of HBV were not found in the sharing of household articles such as razor, towel, drinking glass, nail clippers, toothbrush and tableware.

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A Clinical study of Allergic Rhinitis (treated with aroma-therapy) (알레르기성 비염 환자에 대한 임상적 고찰 - 외치요법(吹鼻法)을 응용하여 -)

  • 신진욱;김남권
    • The Journal of Korean Medicine
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    • v.21 no.4
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    • pp.174-182
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    • 2000
  • Objectives : In order to apply herbal medicine to aroma-therapy, we observed clinically remedical effect for allergic rhinitis of aroma-therapy using herbal medicine. Methods : Twenty-four allergic rhinitis patients were treated in the Kun-po Oriental Medical Hospital of Wonkwang University from September 2000 to October 2000. They were treated with aroma-therapy and analyzed clinically. Results : 1. 25.0% (6 cases) of all cases involved pre-teenagers; teenagers 29.2% (7 cases); patients in their 20s, 20.8% (5 cases); patients in their 30s, 12.5% (3 cases); patients in their 40s, 8.3% (2 cases); patients in their 50s, 4.2% (1 cases). 2. The ratio of male to female patients was 58.3%(14 cases) to 41.7%(10 cases). 3. Cases involving patients under the age of six months was 0%; under 1 year 12.5% (3 cases); under 2 years 33.3%(8 cases); under 3 years 16.7%(4 cases); over 3 years 37.5%(9 cases). 4. Past history : The cases of sinusitis were 33.3%(8 cases); otitis media 20.8%(5 cases), bronchitis 16.7%(4 cases), atopic dermatitis 12.5%(3 cases), asthma 8.3%(2 cases). 5. The ratio of allergic onset based on seasons were : spring 16.7%(4 cases), summer 0%, fall 29.2%(7 cases), winter 16.7%(4 cases), and not defined 37.5%(9 cases). 6. The cases of nasal obstruction was 91.7%(22 cases); followed by : sneezing 83.3(20 cases), white rhinorrhea 70.8%(17 cases), eye itching 66.7%(16 cases), nasal itching 58.3%(14 cases), rhinalgia 58.3%(14 cases), postnasal drip 50.0%(12 cases), headache 41.7%(10 cases), yellow rhinorrhea 33.3%(8 cases), cough 33.3%(8 cases), fatigue 29.2%(7 cases). 7. The cases of familial factor was 66.7%(16 cases); the non-familial factor 33.3%(8 cases). 8. The remedical effect of the treatment showed an improvement in 58.4% of the total cases studied. 9. The improvement-rate of the 1st group (mahwang group) was 66.7%; of the 2nd group (hwangkum group) 48.5%, and of the 3rd group (pine group) 55.8%. Conclusions : Considering the above results, we have concluded that the remedical effect for allergic rhinitis of aroma-therapy using herbal medicine showed to be intentional in comparison with aroma-therapy using aroma-oil.

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Polymorphisms of interleukin-1β promoter in simple febrile seizures (단순 열성 경련에서 interleukin-1β promoter 유전자의 다형성)

  • Yoon, Jang Won;Choen, Eun Jung;Lee, Young Hyuk
    • Clinical and Experimental Pediatrics
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    • v.51 no.9
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    • pp.1007-1011
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    • 2008
  • Purpose : Febrile seizure (FS) is the most common type of seizure. The role of genetic factors in FSs has long been recognized. A positive family history can be elicited in 25-40% of patients with FSs; nonetheless, the genes responsible for FSs in the majority of the population remain unknown. Interleukin-$1{\beta}$ ($IL-1{\beta}$) is a pro-inflammatory cytokine that acts as an endogenous pyrogen. Thus, $IL-1{\beta}$ could be involved in the pathophysiology of FSs. Methods : To determine whether or not single nucleotide polymorphisms of the $IL-1{\beta}$ gene are associated with susceptibility to simple FSs, $IL-1{\beta}$ promoter -31 and -511 genotyping was performed by means of polymerase chain reaction-restriction fragment (PCR-RF) length polymorphism in 40 FS patients (20 sporadic and 20 familial FS patients) and 33 controls. Results : There were no significant differences in the frequencies of -31 C/T and -511 C/T in the $IL-1{\beta}$ promoter gene, between simple FS patients and controls. Conclusion : The frequency of CT/CT increased relatively in familial FS patients. A study examining a larger number of FS patients is needed.

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

  • Kim, Hye-ji;Seo, Go Hun;Kim, Yoon Myung;Kim, Gu-Hwan;Seo, Eul-Ju;Ra, Young-Shin;Choi, Jin-Ho;Yoo, Han-Wook;Lee, Beom Hee
    • Journal of Genetic Medicine
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    • v.14 no.2
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    • pp.56-61
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    • 2017
  • Purpose: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene. The mutation spectrum of NF2 has not been characterized in Korean patients. In the current study, the clinical and genetic characteristics of Korean NF2 patients were analyzed. Materials and Methods: Twenty-five unrelated Korean families were enrolled according to the Manchester criteria. Genetic analysis was performed by direct sequencing and multiplex ligation-dependent probe amplification methods using genomic DNA from peripheral lymphocytes or tumor tissues. Results: All patients had bilateral/unilateral VS and/or other cranial and peripheral nerve tumors. Two patients were familial cases and the other 24 patients were sporadic. Germline NF2 mutations were detected in peripheral lymphocytes from both familial cases, but only in 26.1% of the 23 sporadic families. Somatic mutations were also found in tumor tissues from two of the sporadic families. These somatic mutations were not found in peripheral lymphocytes. A total of 10 different mutations including 2 novel mutations were found in 40.0% of studied families. Five mutations (50.0%) were located in exon 6 of NF2, the FERM domain coding region. Conclusion: Family history was an important factor in identifying germline NF2 mutations. Further study is required to investigate whether exon 6 is a mutation hotspot in Korean NF2 patients and its correlation to phenotypic severity.

Recognition and Attitudes on DNR of College Students (Focused on Comparison between Nursing and Non-Health Department College Students) (DNR에 대한 대학생들의 인식 및 태도(간호대학생과 비 보건계열대학생 비교를 중심으로))

  • Kim, Sung-Mi
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.11 no.12
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    • pp.4907-4921
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    • 2010
  • The object of this descriptive survey research was to provide basic information source for building objective standards of DNR (Do Not Resuscitate) that can be clinically applied, by analyzing college students' awareness and attitude toward DNR. The participants of the study were 1,267 students from one college of Daegu, South Korea. The structured survey questionnaire was used for data collection, and the survey was conducted from 1-31 July, 2010. The error and percentage was estimated by SPSS 17.0 program, and analyzed with $x^2$-test. As a result of comparing the nursing students' and non-health care major students' awareness and attitude toward DNR, the significant differences were found in the necessity of DNR, reason for supporting DNR, reason for opposing DNR, and DNR decision-maker, among the awareness dimension; among the attitude dimension, significant differences were found in implication of family DNR and self-DNR. Comparing the nursing students' and non-health care major students' awareness toward DNR related information provision, researchers have found significant differences in the necessity of giving information on DNR, timing of the DNR information provision, result of the DNR-related information provision, and guidelines for the DNR information provision. In terms of the difference in DNR's necessity recognition by the demographic information, the significant differences existed based on the religion and the history of blood donation; in terms of the differences in attitude toward DNR decision-maker, the differences were found on the religion and the number of siblings. For the attitude toward family member's DNR, the significant differences existed for the sex, age, economic status, religion, the number of siblings, the history of familial illness and death, and experience of blood donation; the attitude toward the DNR for the self was significantly differed by the sex, economic status, the number of siblings, and the history of familial illness and death. To establish the standards for DNR based on the study, we suggest more well-designed future studies.

Disorders in Hemostasis

  • Sung, Tae-Jung
    • Neonatal Medicine
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    • v.18 no.1
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    • pp.14-22
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    • 2011
  • Neonatal bleeding is a common problem encountered in nursery rooms or neonatal intensive care units, especially among premature infants. Furthermore, owing to recent remarkable improvement of neonatology, survival rates of preterm neonates have increased; hence, neonatal bleeding cannot be emphasized enough. Since the total blood volume of neonates is small, bleeding can be one of the causes of morbidities and mortalities. Therefore, rapid diagnosis and immediate therapy is urgently needed. The patient's medical history including a familial history of a bleeding disorder or of a previously affected infant who suffered from bleeding along with maternal and neonatal drugs can provide important diagnostic clues. Presence of bleeding with or without petechiae and ecchymoses in a healthy term or late preterm infant with thrombocytopenia but normal prothrombin time and activated partial thromboplastin time strongly suggests a congenital bleeding disorder. For a sick infant who is bleeding from multiple sites, an acquired disorder such as disseminated intravascular coagulation is suspected. Intracranial hemorrhage in term or late preterm infants without a history of birth trauma is highly suggestive of coagulation disorders. The purpose of this review is to summarize recent advances in diagnostic methods is as well as basic concepts of neonatal hemostatic disorders. First, an outline of background information will be presented followed by a discussion of primary and secondary hemostatic disorders as well as inherited and acquired disorders.

Prenatal, Perinatal and Developmental Risk Factors of Attention-Deficit Hyperactivity Disorder (주의력결핍 과잉행동장애의 산전 및 주산기 위험인자)

  • Yeo, Jin-Young;Choi, Sejin;Joo, Yeon Ho;Kim, Hyo-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.26 no.2
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    • pp.112-119
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    • 2015
  • Objectives : The purpose of this study was to examine the prenatal, perinatal and developmental risk factors of attention-deficit hyperactivity disorder (ADHD), compared to unaffected siblings (SIB), and typically developing children (TC). Methods : Subjects with ADHD, their SIB, and TC were recruited from the child psychiatry outpatient clinic of the Asan Medical Center Children's Hospital. The parents of the children completed questionnaires on perinatal and developmental risk factors. Results : Fifty-eight subjects with ADHD (41 boys, $7.7{\pm}1.3years$), 21 SIB (8 boys, $8.2{\pm}1.8years$), and 22 TC (8 boys, $8.5{\pm}2.1years$) were included. The ADHD group showed higher rates of maternal stress during pregnancy than the SIB group (p=.002), and the ADHD group showed higher rates of familial psychiatric history than the TC (odds ratio, 8.76 ; 95% confidence interval, 1.69 to 45.45). Conclusion : These findings suggest that among perinatal and developmental factors, maternal stress during pregnancy contribute to the development of ADHD. Future prospective studies will be needed in order to determine the causal relationship between perinatal risk factors and development of ADHD.

Analysis of Dietary Risk Factors of the Colorectal Cancer Patients in DaeguㆍKyungpook Area, Korea (I) - A Study on Lifestyle and Eating Behaviors of the Colorectal Cancer Patients - (대구ㆍ경북지역 대장직장암 환자의 식사관련 위험인자의 분석 (I) -대장직장암 환자의 일상생활 패턴 및 식행동 특성-)

  • Suh Soo-Won;Koo Bo-Kyung;Jeon Su-Han;Lee Hye-Sung
    • Journal of Nutrition and Health
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    • v.38 no.2
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    • pp.125-143
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    • 2005
  • The purposes of this study were to investigate the characteristics of lifestyle and dietary habits of the colorectal cancer patients in Daegu and Kyungpook areas and to collect the data useful for nutrition education for the prevention of colorectal cancer in this community. The case subjects of the study were 123 patients diagnosed recently as colorectal cancer at Kyungpook National University Hospital. The control subjects were 182 persons who did not have any gastrointestinal diseases, including the patients from the department of orthopedic surgery and healthy volunteers. The survey covering general characteristics, life style, dietary habits, eating behaviors, and food intake frequency was administered by individual interviews using questionnaires. The results of the study suggest that high BMI, daily life stress, pessimistic personality, lack of physical activities, and familial cancer history might be the possible risk factors for the incidence of colorectal cancer. Dietary factors suspected as risk factors for colorectal cancer in the present study included strong preferences to meats, salty and fatty taste foods, low intake of water, alcohol drinking, smoking, coffee intake and irregular eating habits. A high consumption of seaweeds, green-yellow vegetables, light-colored vegetables, and green tea was suggested as a preventive factor for colorectal cancer. It is recommended to conduct more extensive and systematic surveys in the near future to reconfirm the risk factors of colorectal cancer in consideration of the characteristic food culture in this community. The results of the present study may be applied to nutritional education for the prevention of colorectal cancer for the local residents. (Korean J Nutrition 38(2): 125~143, 2005)