• Title/Summary/Keyword: Hair disease

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Controversial issues in the legal restriction for prenatal genetic testing in Korea (산전검사 대상 질환에 대한 법적 규제의 문제점에 대한 고찰)

  • Choi, Ji-Young;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.186-189
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    • 2007
  • More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

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Alopecia : An unexpected effect of orthodontic treatment (교정치료시 병발된 탈모증)

  • Davidovitch, Ze'ev;Lee, Young-Jun;Chung, Kyu-Rhim;Park, Young-Guk;Matkovic, Velimir
    • The korean journal of orthodontics
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    • v.29 no.6 s.77
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    • pp.663-672
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    • 1999
  • A case is described, where an adolescent boy developed alopecia areata and alopecia totalis during the course of routine orthodontic treatment for the resolution of a dentoalveolar Class II division 1 malocclusion. The orthodontic treatment lasted 22 months, with a successful outcome. However, within eight months of the onset of treatment the patient lost all his hair Exhaustive medical tests and differential diagnosis determined that the etiolgy of the patient's alopecia was psychological stress evoked by the orthodontic treatment. Numerous reports suggest that psychological stress can cause alopecia by affecting the immune system. Therefore, it appears reasonable to assume that in the case of this patient, alopecia had resulted from stress effects on the immune system, leading to autoimmune disease-like conditions in tissues surrounding the scalp hair follicles. The alopecia condition was successfully reversed by daily oral and topical applications of vitamin D. It is concluded that the immune system plays a pivotal role in tissue remodeling around the teeth and elsewhere in the body, and that any conditions capable of affecting this system may cause unfavorable outcomes, such as alopecia.

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Development of Wholistic Hospice Nursing Intervention Program for In-patient of Hospice Palliative Care Unit (병동형 호스피스 대상자를 위한 전인적 호스피스 간호중재 프로그램의 개발)

  • Kang, Eun-Sil;Choi, Sung-Eun;Kang, Sung-Nyun
    • Korean Journal of Hospice Care
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    • v.7 no.1
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    • pp.29-45
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    • 2007
  • People in the end of life and their families suffer in their physical disease and other aspects as a whole person. They need hospice care to palliate their total suffering in physical, emotional, social and also spiritual aspect through professional hospice team. To care their whole personal needs, hospice team must be a multi-discipline team which consists of medical doctors, nurses, social workers, pastors and volunteers. Recently those who die in hospice palliative care unit have trend to increase more than in home year by year. So it is necessary to develop the nursing intervention program to be performed by multi-discipline team approach for in-patient of hospice palliative care unit. The purposes of this study were to develop of wholistic hospice nursing intervention program for inpatient of hospice palliative care unit. The subjects of study were collected from 30 patients those who were over 18 years old and admitted in hospice palliative care unit of S hospital in P city with agreement in hospice palliative care in their terminal disease. The period of data collection was from December 15, 2003 to March 15, 2004. The result were as follows : 1. The result of Wholistic Hospice Nursing Program's development was as follow : A Wholistic Hospice Nursing Program was developed by me in this study is one of the service program for hospice palliative care unit. It was named as ‘Rainbow Program’ to be approached easily by hospice patients. The purposes of it are to improve the quality of life of the terminal patients with their dignity, to help them live in abundant and meaningful in their lives, to care them in peaceful in dying process with understanding them in whole personal, and also to palliate the grief and suffering of the bereaved. It was provided by hospice professionals(nurses, medical doctors, social worker, pastors, art therapists) and volunteers those who were educated in hospice for multi-diciplinary team approach to collaborate with each role play I 20-30 minuters of each through visiting their rooms individually and a place of hospice palliative care unit of S hospital in P city. The subjects of it were the terminal patients those who admitted hospice palliative care unit and their familes. with agreement in hospice palliative care in their terminal disease. The characteristics of it were multi-disciplinary team approach, whole personal care, individual care and total care according to their needs in their condition. The contents of it were pain control, symptom control, counseling patient, counseling family, hair cutting, hair shampooing, bed bath, recreation, taking a walk, event of culture(screen, recital, festival of praises, exhibition and so on), pastoral counseling, ritual service in bed, praying, service in bed, sing a worship praise, listening to the music, sharing remembrance of life, individual visiting music service(sing and praying), meditation Bible, art therapies(dance and drawing), social worker's counselling, confessing and sharing love and thanksgiving. The experimental group subjects participated in Wholistic Hospice Nursing Program which takes 120 minutes per session, total 10 sessions(total 1,200 minutes) altogether. In conclusion, this Wholistic Hospice Nursing Intervention can be used actively for whole personal well-being of the patients in hospice palliative in hospice palliative care unit and also applied in hospice practice as an useful model of multi-disciplinary team approach by hospice professionals.

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Farmers' Perceptions and Knowledge of Cattle Adaptation to Heat Stress and Tick Resistance in the Eastern Cape, South Africa

  • Katiyatiya, C.L.F.;Muchenje, V.;Mushunje, A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.11
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    • pp.1663-1670
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    • 2014
  • The objective of this study was to determine the perceptions and knowledge of farmers of heat stress and tick resistance in cattle. A cross-sectional survey was conducted and 110 farmers in four villages in the sour and sweet velds of the Eastern Cape Province, South Africa were interviewed. The associations among area (municipality), gender, age, level of education, employment and religion were computed using Chi-square tests. The majority of the respondents had on average 4 bulls, 4 cows, 4 heifers, 4 calves, and 4 oxen. Milk was considered as the major (28.3%) reason for keeping cattle. Most farmers owned non-descript (72.6%), and Nguni (45.3%) cattle because of their heat tolerance (54.7%), tick resistance (54.7%), and milking ability (28.2%) traits. Excessive panting (56.6%) and disease transmission (76%) were regarded as the major effects of heat stress and tick infestation in cattle, respectively. About 50% of the respondents agreed that hair length influences tick resistance and 47.17% considered coat colour when acquiring cattle. In the sampled areas, ticks were prevalent in the summer season (93%), and 77.36% of the respondents use acaricides every fortnight. Gall sickness was reported to be a major problem in the cattle herds by 36.79% of the respondents. Our results showed that farmers in the two municipalities had knowledge of cattle adaptation to heat stress and tick resistance.

Steatocystoma multiplex: A case report of a rare entity

  • Shin, Nan-Young;Kang, Ju Hee;Kim, Jo-Eun;Symkhampa, Khantaly;Huh, Kyung-Hoe;Yi, Won-Jin;Heo, Min-Suk;Lee, Sam-Sun;Choi, Soon-Chul
    • Imaging Science in Dentistry
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    • v.49 no.4
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    • pp.317-321
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    • 2019
  • Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.

A case of Rothmund-Thomson syndrome (Rothmund-Thomson 증후군 1례)

  • Kim, Seung Hyo;Shin, Choong Ho;Yang, Sei Won
    • Clinical and Experimental Pediatrics
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    • v.49 no.5
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    • pp.565-569
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    • 2006
  • Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS are at risk of cancer. Reported cancers in children with RTS include : basal cell carcinoma, squamous cell carcinoma of the skin and osteosarcoma of bone. We report an 11 year-old boy, who presented to our institution with poikilodermatous skin change with telangiectasia and hyperpigmentation, absence of radius and thumb, and the development of osteosarcoma of the left tibia. The patient is now receiving supportive care and is receiving maintenance chemotherapy after surgery for osteosarcoma.

Hairs as Physical Barrier against Adhesion of Xanthomonas axonopodis pv. glycines on Soybean Leaf (콩 잎 엽모에 의한 불마름병균 부착 저해)

  • Kim, Seung-Han;Park, Seuk-Hee;Woo, Jin-Ha;Choi, Sung-Young
    • Research in Plant Disease
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    • v.21 no.1
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    • pp.40-43
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    • 2015
  • Bacterial pustule of soybean is caused by Xanthomonas axonopodis pv. glycines, one of the most important diseases in soybean. The symptom of bacterial pustule is mainly distributed around leaf veins. However, the reason has not been known. In order to determine pathosystem of bacterial pustule in leaf, soybean leaves were collected and observed using scanning electron microscopy (SEM) and light microscopy. Many hairs were observed at abaxial sides of the leaf, few hairs were observed at tissue around the leaf veins. In addition, unidentified bacterial cells and dusts at the no hair part near veins were observed. In the inoculation assays, the cells of X. axonopodis pv. glycines were observed near leaf veins. The imprint of underside of soybean leaves inoculated with X.axonopodis pv. glycines on PDA showed that the growth of bacteria around veins was observed but no bacterial growth at the part with leaf hairs. Our data demonstrated that soybean leaf hairs play an important role as a physical barrier for structural resistance of soybean against bacterial pustule pathogen.

Clinical Study of Nimotuzumab Combined with Chemotherapy in the Treatment of Late Stage Gastric Cancer

  • Xu, Chong-De
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10273-10276
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    • 2015
  • Objective: To explore the clinical effects of nimotuzumab combined with chemotherapy in the treatment of late gastric cancer. Methods: A total of 34 reoccurrence or metastatic patients with late stage gastric cancer who were confirmed by histopathology and/or cytology were selected and randomly divided into observational and control groups, of 17 cases each. Patients in the control group were treated with the standard DCF plan, while patients in observational group additionally received nimotuzumab. The short-term and long-term efficacy and adverse reactions in the 2 groups were followed. Results: The objective response rate (ORR) and disease control rate (DCR) were 64.7% (11/17) and 82.4% (14/17) in observational group and 25.0%(4/16) and 37.5%(6/16) in the control group(ORR and DCR between 2 groups, ${\chi}^2=5.2412$, P=0.0221 and ${\chi}^2=6.9453$, P=0.0084). The median progression-free survival (PFS) time and median overall survival (OS) time were 6.50 months and 12.50 months in observational group and 4.50 months and 8.25 months in the control group (P=0.0212; P=0.0255). The main toxic and side effects in the 2 groups were reduced leukocytes and hemoglobin, gastrointestinal reactions and hair loss and these were relieved after symptomatic treatment and nutrition support therapy. There were no differences in the occurrence of toxic and side effects between the 2 groups. Conclusions: Nimotuzumab combined with DCF plan is effective in treating late stage gastric cancer. A larger scale study is now warranted for confirmation of the findings.

DENTAL MANAGEMENT OF CHILDREN WITH CORNELIA DE LANGE SYNDROME (Cornelia de Lange Syndrome 환아의 치과 치료)

  • Baik, Byeong-Ju;Kim, Jae-Gon;Yang, Yeon-Mi;Park, Jong-Ha;Kim, Sung-Hee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.31 no.1
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    • pp.120-125
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    • 2004
  • Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

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