• Title/Summary/Keyword: familial

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A Case Study on Hwabyung (홧병환자 1례(例)의 임상 보고)

  • Lee Seung-Gi;Kim Jong-Woo;Whang Wei-Wan
    • Journal of Oriental Neuropsychiatry
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    • v.7 no.1
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    • pp.173-180
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    • 1996
  • Generally, Hwabyung is more commen in older women, in low educational group. Many psychiatrists explain it as the illness originated from a series of psychological stresses. And they think that Hwabyung patients have somatization disorder, anxiety disorder, and, major depression. But, many of oriental medical doctors explain it as symptoms having the character of fire. In order to investigate the clinical aspects of Hwabyung, this study was carried out in department of oriental neuropsychiatry at Kyung Hee Medical Center. The subject was 34 year old female who was an inpatient in K.M.C from Aug. 14 Aug 26, 1996.The results of the study showed that familial problem and long-termed(about 10 years) stressed situation drove her to Hwabyung. This seems to be related to Korean traditional culture. That is, Korean women were exposured to familial problem(related to mother-in-law, and, her husband), and, poverty, etc. But they had to be patient of this situation. Nowadays, though this situation is rather improved, Hwabyung remains a problem with us, because many people still suffer from Hwabyung.

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Familial Case of Visceral Larval Migrans of Toxocara Canis after Ingestion of Raw Chicken Liver (닭 간 생식 후 가족에서 집단으로 발생한 개회충에 의한 내장 유충 이행증 1예)

  • Park, Min-Su;Ahn, Young-Joon;Moon, Kyung-Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.13 no.1
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    • pp.70-74
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    • 2010
  • We report a familial case of visceral larva migrans of Toxocara canis after eating raw chicken liver. A 9-year-old female ate raw chicken liver with her father and older brother and was admitted to the hospital with periumbilical pain, a mild fever, and headache. The total peripheral eosinophil count was 9,884/$mm^3$ and the total lgE concentration was 2,317 IU/dL. Chest and abdominal computed tomography (CT) scans demonstrated multiple, poorly-defined, small, nodular lesions scattered in the liver and lung parenchyma. Toxocara ELISA and Western blot tests were positive in the patient, and her father and brother. A liver biopsy revealed extensive eosinophilic infiltrations in the portal and lobular areas. She took albendazole for 5 days and was discharged in good condition. These results suggest that clinicians should consider foodborne toxocariasis in patients with multiple, small nodules in the liver and lung parenchyma with eosinophilia and a history of raw meat ingestion.

Second locus for late-onset familial Amyotrophic Lateral Sclerosis (가족성 근위축성측삭경화증을 유발시키는 두 번째 유전자 위치)

  • 홍성출
    • Journal of Life Science
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    • v.11 no.3
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    • pp.279-283
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    • 2001
  • Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

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Home Ecology, Everyday Life, and Life-World: Beyond the Scholarship of Colonial Modernity (생활과학, 일상생활, 그리고 일상성: 식민지적 근대화와 '일상'을 지운 학문을 넘어서기)

  • Cho, Hae-Joang
    • Journal of the Korean Home Economics Association
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    • v.44 no.8
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    • pp.143-150
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    • 2006
  • Life Science or Home Economics has its own history of scholarship. In South Korea, the School of Home Economics was regarded as the best school of 'producing best brides' in the early stage of its academic history. Since the 1980s when South Korean society went through a speedy economic growth with development of culture and service industry, the school was transformed to educating highly professional career women in the field of industry which deals with everyday lives. As an applied science in nature, the school of Home Economics has had a heavy emphasis on engineering the familial and social life. It also has heavily depended on imported theories and statistical researches. In the crisis of familial and social disintergration, the role of School of Home Economics needs to be redefined. Reexamination of the premises of Home Economics and methodology is necessary. Decolonializaton of the scholarship in the changed condition of global capitalism is particularly urgent in the late modern era of reflexion.

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

  • Rhee, Eun Sang;Kim, Yu Bin;Lee, Sunghee;Oh, Seak Hee;Lee, Beom Hee;Kim, Kyung Mo;Yoo, Han-Wook
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.5
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    • pp.479-486
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    • 2019
  • Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

Hierarchized Male Sexuality in Modern England and "Solitary Vice" (근대 영국에서의 위계화된 남성 섹슈얼리티와 "홀로 저지르는 죄악")

  • Gye, Joengmeen
    • Journal of English Language & Literature
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    • v.54 no.4
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    • pp.443-459
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    • 2008
  • This paper examines the discourse of masturbation in modern England and aims to re-draw the map of male sexuality related to such issues as nation, empire, family, and economy. It argues that the discourse of masturbation in modern England reflects national anxieties for the future of empire and an economic concern for unproductive sexual behavior, which were the main factors to transform masturbation into "solitary vice." The anxieties about empire and British dominance were constituted as the core of the anti-masturbation discourse on the boys. The imperial destiny was regarded to depend on the protection of the middle- and upper-class boys from the harmful psychological and physiological effects of masturbation represented in Lawrence's "The Rocking-Horse Winner." In the case of a single male, the concern for masturbation is constructed as a concern about economy, family, and human solidarity. As seen in Eliot's Silas Marner, the act of masturbation was condemned as the fulfillment of illegitimate sexual desire outside the familial sphere and a commercial economy, and thus without the possibility of human community. Silas Marner and Meredith's The Ordeal of Richard Feverel show the ways of reconstituting sexual others as normalized subjects: Boys were forced to be asexual through the regime of surveillance; and a single male was required to enroll in a remedial course on familial respectability.

Premalignant Lesions of the Small Intestine (소장의 전암성 병변)

  • Kim, Su Hwan;Kim, Ji Won
    • Journal of Digestive Cancer Reports
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    • v.9 no.2
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    • pp.60-67
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    • 2021
  • Tumors of the small intestine are rare and generally asymptomatic or with nonspecific symptoms. The small intestine is difficult to approach using conventional endoscopy, and early diagnosis of the small intestinal tumors is difficult. Therefore, many of the small intestinal tumors are diagnosed at an advanced stage, which makes the prognosis poor. Premalignant lesions of the small intestine or known risk factors of small bowel cancer are sporadic adenoma, adenoma associated with familial adenomatous polyposis, hamartomatous polyp associated with Peutz-Jeghers syndrome, Crohn's disease, and celiac disease. Therefore, it is necessary to recognize that the small bowel cancer can occur in these patients with premalignant lesions or risk factors of small bowel cancer. To reduce the possibility of small bowel cancer or to detect at an earlier stage, attention should be paid to screening and surveillance of these patients with premalignant lesions or risk factors of the small bowel cancer.

A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets

  • Kim, Sejin;Kim, Sungsoo;Kim, Namhee
    • Journal of Genetic Medicine
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    • v.19 no.1
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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.

Depressive Disorders among Hansen Disease Patients Living in a Collective Farm (한 집단 농원 한센병 환자들의 우울장애)

  • Kim, Yun-Gu;Park, Min-Ho;Park, Jae-Won;Song, Joon-Ho;Sim, Seong-Gyun;Lee, Joo-Hyoung;Lee, Hee-Young;Yun, Dong-Il;Jung, Sung-Hwan;Min, Young-Sun;Bae, Geun-Ryang;Jung, Cheoll;Lim, Hyun-Sul;Cheong, Hae-Kwan
    • Journal of agricultural medicine and community health
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    • v.29 no.1
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    • pp.133-145
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    • 2004
  • Objectives: Depression is a major health concern that can be life threatening if not recognized and treated early. However, there is few report on the depressive disorder of Hansen disease patients in Korea. Therefore, the authors executed this study in order to check factors related to a depressive disorder of a Hansen disease patients and compare with factors to reach to a depressive symptoms of ordinary people with studying their life state and the trouble that Hansen disease patients were currently experiencing Method: The authors surveyed depressive symptoms using self-reported questionnaires in 74 Hansen disease patients and 84 controls. The severity of depressive symptoms was measured using Korean Form of Geriatric Depression Scale (KGDS) score. Result: Positive rate of depressive disorders among Hansen disease patients was 70.3% and that the referents was 31.0%. There is significant difference positive rate of depressive disorders between Hansen disease group and the referents in the factors such as gender, age, frequency of going out, familial type, and familial income. Depressive disorder of Hansen disease group was associated with sex, familial income. According to the multiple logistic regression, the odds ratios of the Hansen disease group versus referents, gender, familial income, frequency of going out were significant (p<0.05). Conclusion: Hansen disease patients had statistically significant higher depressive symptom score than the referents. Also, Hansen disease patients who have lower familial income were more likely to have depressive disorders. Therefore, Economical supports and policy are required for the Hansen disease patients.

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IMPACT OF PARENTAL PSYCHIATRIC DISORDER ON OFFSPRING'S DEPRESSION, ANXIETY, SELF CONCEPT AND PERCEPTION OF FAMILIAL RELATIONSHIP (정신과 환자 자녀의 우울, 불안, 자기 개념 그리고 가정환경의 특성에 대한 연구)

  • Lee, Jung-Bum;Cho, Soo-Churl
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.9 no.1
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    • pp.54-66
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    • 1998
  • Objectives:This study was to investigate the impact of parental psychiatric disorder on offspring's depression, anxiety, self concept, perception of familial relationship compared with offspring of normal control. In offsprings of parents with psychiatric disorder, this study explored whether their psychopathology, self concept, and perception of familial relationship were influenced by parent’s sex, onset time of parent’s psychiatric disorder and parent’s psychiatric diagnosis. Methods:52 offsprings aged 10-18 years of 39 psychiatric outpatient were surveyed from June, 1997 to April, 1998 and completed several questionnaaire, including Korean from of the Family Environment Scale, Korean form of the State-Trait Anxiety Inventory for Children, Korean form of Kovac’s Children’s Depression Inventory, and Korean form of Piers-Harris Children’s Self-Concept Scale. Their score was compared with offsprings’ of normals. In offsprings of parents with psychiatric disorder, they were compared according to parent’s sex, onset time of parent's psychiatric disorder and parent’s psychiatric diagnosis. Results:The results were as follows:1) Offsprings of parents with psychiatric disorder reported higher level of state anxiety and lower level of the FES expressive subscale than offsprings of normals(p<0.05). But they reported higher level of PHCSCS intellectual & school status subscale and popularity subscale than normals(p<0.05). 2) There were no differences in anxiety, depression, self concept, and perception of familial relationship between patient’s sex. 3) Offsprings less than 3 years old when parent’s psychiatric disorder had developed showed higher level of trait anxiety and lower level of FES control subscale than offsprings more than 3 years old (p<0.05). 4) There were no diferences in anxiety, depression, self concept, and perception of familial relationship between patient’ diagnostic groups(schizophrenia spectrum disorder-mood disoderneurosis). Conclusion:The finding indicated that self reported scale of anxiety and depression showed no significant difference between offsprings of psychiatric patients and offsprings of normals. In offsprings of parents with psychiatric disorder, parent’s sex and psychiatiric diagnosis had no influence on offspring’s psychopathology. But the offspring’s age(before 3 years old) when the parent’s psychiatriric disorder developed had influence on higher level of offspring’s trait anxiety. For further high risk group study, direct interview and evaluation of parent-child agreement or teacher-child agreement will be needed in longitudinal study.

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