• Title/Summary/Keyword: Hair disease

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A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation (BRAF 유전자의 돌연변이로 진단된 Cardiofaciocutaneous 증후군 1례)

  • Lee, Beom-Hee;Kim, Jae-Min;Lee, Jin-Joo;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.87-90
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    • 2009
  • Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.

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DENTAL MANAGEMENT OF ECTODERMAL DYSPLASIA : A CASE REPORT (외배엽 이형성증 환자의 치험례)

  • Jang, Hyang-Gil;Lee, Sang-Ho;Lee, Nan-Young
    • Journal of the korean academy of Pediatric Dentistry
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    • v.36 no.4
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    • pp.631-639
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    • 2009
  • Ectodermal dysplasia is a genetic disease which shows various congenital dysplasias in tissues differentiated from the ectoderm. As the most common type of the ectodermal dysplasia, hypohidrotic ectodermal dysplasia(HED) shows dysplasia mainly in the hair, fingernails, teeth and the skin. Symptoms are more severe in males than in females and heterozygous females are usually normal showing no symptom. The treatment for these patients differ according to individuals, but since patients can easily become depressed socially and emotionally due to a decrease in mastication and speech function caused by multiple loss of teeth as well as some aesthetic problems, an early treatment is required. In a case, with a 10 years-old boy diagnosed with HED which shows partial edentia of the maxilla, and the edentia of the mandible in the pediatric dentistry department of the Chosun University Dental Hospital, a fabrication of denture resulted in the recovery of mastication and speech function and aesthetic improvement due to an increase of the face height.

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Interdisciplinary treatment for ectodermal dysplasia (외배엽 이형성증환자의 협진치료)

  • Kim, Jin-Hee;Hoe, Young-Ku;Oh, Jang-Kyun
    • The korean journal of orthodontics
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    • v.30 no.6 s.83
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    • pp.739-745
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    • 2000
  • Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or mote ectodermal structures. Characteristic manifestations Include scanty hair and eyebrows, pigmented and hyperkeratinized skin around the eyes and mouth, frontal bossing with prominent supraorbital ridges, nasal bridge depression and dental anomalies. Hyperthermia or unexplained high fever as a result of the deficiency of sweat glands is common medical history. Findings of intraoral structures are anodontia or oligodontia with conical crowns. Consequently, generalized spacing and loss of vertical dimension of occlusion. Interdisciplinary approach has been performed to treat a 10-year old boy with ectodermal dysplasia. Orthodontists and a prosthodontist worked together on this case, and the result was satisfactory.

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Risk Factors Associated with Head Louse Infestation in Korea

  • Sim, Seob-O;Lee, Won-Ja;Yu, Jae-Ran;Lee, In Yong;Lee, Seung Hyun;Oh, Soo-Youn;Seo, Min;Chai, Jong-Yil
    • Parasites, Hosts and Diseases
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    • v.49 no.1
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    • pp.95-98
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    • 2011
  • Head louse infestation (HLI) is one of the most frequently occurring parasitic diseases in children. This study was conducted to investigate the socioeconomic and personal factors influencing HLI in the Republic of Korea. A total of 2,210 questionnaires about various factors related to HLI were obtained from children in 17 primary schools throughout the country. The rate of HLI was significantly lower in children who lived together with mother or in a family where both parents worked. In addition, HLI was lower in children whose fathers or mothers were public officers or teachers. However, HLI was higher in children who had small families and washed their hair less often. Education levels of parents and the number of children in family were not significant. Improvement of socioeconomic factors and personal hygiene will be helpful for reducing HLI.

TREATMENT OF THE CHILD WITH LOWE SYNDROME UNDER GENERAL ANESTHESIA: A CASE REPORT (Lowe 증후군 환아의 전신마취를 이용한 치료증례보고)

  • Chang, Woo-Hyuck;Lee, Keung-Ho;Choi, Yeong-Chul
    • Journal of the korean academy of Pediatric Dentistry
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    • v.29 no.2
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    • pp.237-242
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    • 2002
  • Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney and nervous system, and occurs predominantly in mostly males. The patients with Lowe syndrome are characterized with prominent forehead, thin and sparse hair, protruding ears, congenital cataracts, glaucoma, mental retardation, stunted growth, hypotonia, decrease in muscle mass and tendon reflexes, renal tubular dysfunction, and metabolic bone disease. A 6-year-old boy with Lowe syndrome was admitted to our clinic, with multiple caries and a chief complaint of intermittent pain on the left mandibular molar area. Because of difficulty in management of behavior and his medical problem, general anesthesia was performed for dental care. No specific complication was noticed during dental treatment procedure under general anesthesia and also during periodic recall-checks. General anesthesia itself, however, could be a potentially life-threatening procedure due to patient's biomedical problems. When a dental procedure under general anesthesia is to be required in patient with Lowe syndrome, it may be advisable being teamed with physicians, and general anesthesia duration should be as short as possible.

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A literatual study on Acupunctural and External therapy about the breast disease (유방질환(乳房疾患)에 관한 침구치료(鍼灸治療)와 외치법(外治法)에 대한 문헌적(文獻的) 고찰(考察))

  • Kwon, Il-hye;Jeong, Jin-hong
    • Journal of Haehwa Medicine
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    • v.10 no.1
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    • pp.67-78
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    • 2001
  • From the study of acupuncture and external diseases on mammary diseases, the following conclusions are obtained. 1. Point Shanzhong, Shaoze and Rugen are often used for galactostasis in acupuncture. 2. Often used vessels for galactostasis in acupuncture are Stomach Meridian, Conception Vessel, Small Intestine Meridian, Bladder Meridian, Liver Meridian and Large Intestine Meridian in order. 3. The direct stimulations are used in external treatment for galactostasis, often accompanied by internal medical treatment, to promote the circulation of Qi and Blood. 4. Point Zuimup, Guangming of Gall bladder Meridian and Zusanli of Stomach Meridian is used for lactation pain in acupuncture. 5. Point Jianjing, Zusanli and Shanzhong are most often used for acuremastitis and breast cancer in acupuncture. 6. Often used vessels for acuremastitis and breast cancer in acupuncture are Stomach Meridian, Gall bladder Meridian, Conception Vessel, Small Intestine Meridian, Bladder Meridian, Pericardium Meridian in order. 7. The external treatment used for acuremastitis and breast cancer can be classed into its pathological period. When lactation is interrupted, Kumhwang Powder, Okro Powder, Robongbang, Allii Radix, Pinelliae Rhizoma, garlic moxibustion and Arusaenatus Rgizoma powder are used. When pus is piled up, Chunghwa Extracts, Dioscoreae Rhizoma, Leonuri Herba, Typa Latifolia, Taraxacum platycarpum, Phaseolus angularis, Manchong, Crvi Cornus latex, and Aucklandiae Radix are used. When pus flows down, Salviae Miltiorrhizae Radix Extract, nine-one pellet, Yongboo extract, eight-dampness extract, Tissue-regeneration Powder, Toad-net treatment, Kitten-hair, Hongseung pellet are used. 8. Stomach Meridian, Conception Vessel, Small Intestine Meridian, Gall Bladder Meridian, Bladder Meridian are most often used vessels for mammary diseases. From the conclusions above, It appears that the medical effect could be maximized by further studying and developing of the acupuncture and external treatment for mammary diseases according to the its nature, while accompanying internal medicine appropriately at the same time.

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Study on Dongkyung-i Dog Characterized as Anury and Brachyury (무미와 단미로 특징되는 동경이에 대한 연구)

  • Cho, Sung-Jin;Park, Young-Seok;Lee, Eun-Soo;Lee, Hyun-A;Kim, Ok-Jin
    • Journal of Veterinary Clinics
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    • v.25 no.1
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    • pp.15-18
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    • 2008
  • Until now, there are no scientific studies for Dongkyung-i(DKI) dog, which is recently called as Deng-Kyun. This study is aimed to investigate the characteristics of DKI. According to visiting studies, DKI is an active, live and muscular dog. The dog is willing to announce the approach of strangers friendly. As the results of morphological studies, DKI is medium sized and the average weight is 22.6 kg. Its coat has mainly yellowish brown color and short hair. Morphologically, the dog showed vestigial tail and muscular and sturdy pelvic limbs. As the results of radiological studies, DKI is characterized as the absence of coccygeal vertebrae or the coccygeal agenesis. We concluded that DKI may be a Korean native canine breed characterized as short or non-tail dog. Also, we suggested that this characteristic dog is valuable to develop as a Korean native breed.

Personalized Nutrition Intervention for Weight Control With Korean Foods via Internet Service System

  • Oh, Hyun-In;Chung, Myung-Il;Yi, Jae-Hyuk;Jang, Dai-Ja
    • International Journal of Contents
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    • v.7 no.2
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    • pp.26-31
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    • 2011
  • People with obesity or over-weight need nutritional intervention to reduce their weight, because weight loss reduces the incidence rate of chronic diseases such as hypertension, type II diabetes, cardiovascular diseases and cancer in obese people. This study was to develop a system for individualized weight control program available both for wired and wireless internet users. This system is especially useful to users carrying wireless internet mobile device. If they input their physical information (height, weight and waist circumference) and mineral levels measured by hair tissue mineral analysis, the system provides evaluation of their health status and metabolic related functions such as endocrine and carbohydrate tolerance. Based on these evaluations, food menus are then offered to them to manage their health status and to improve their metabolic related physiological functions in a personalized way. The system also provides more information for recommended foods, such as nutritional information, food ingredients, recipes, and videos related to cooking. Bibimbap was selected as an example dish for customized contents for mobile web. Bibimbap is one of the most well-known Korean traditional dishes prepared with various kinds of ingredients including several different kinds of vegetables, meat, and egg so that it is a low calorie dish as well as a well-balanced diet. Therefore, this system developed in this study allows the mobile users to access web site through wired wireless internet everywhere and provides a customized content to the users to manage their weight and finally to achieve a desirable weight.

High prevalence of Enterococcus spp. from dogs with otitis externa

  • Jo, Hyun-Jung;Chae, Hee-Sun;Kim, Hyun-Ju;Kim, Min-Ju;Park, Gyu-Nam;Kim, Sang-Hun;Chang, Kyung-Soo
    • Korean Journal of Veterinary Service
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    • v.35 no.2
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    • pp.99-104
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    • 2012
  • Otitis externa (OE) is a frequent disease in the ear canals of dogs. To identify the pathogens causing OE in dogs and to determine their antimicrobial resistances, specimens were collected from animal hospitals in Daejeon. The isolates were examined by morphological and biochemical tests, 16S rRNA analysis and antimicrobial susceptibility tests. We analyzed correlation between the isolated pathogens and external factors of dogs such as breed, age, gender, ear mite, hair in ears and experience with antibiotic therapy. Thirty three strains of bacteria were isolated from 26 of the 68 heads of dogs with OE. The most isolated bacteria were Enterococcus faecalis (E. faecalis) followed by Staphylococcus aureus (Sta. aureus), Sta. pseudointermedius, E. faecium, E. avium and Streptococcus canis (Strep. canis) in order of frequency of occurrence. Isolation frequency of Enterococcus spp. and Staphylococcus spp. were 51.5% and 45.5%, respectively. E. faecalis and E. faecium isolates showed VanB phenotype, which is resistant to vancomycin but sensitive to teicoplanin were 58% and 25%, respectively. Nine isolates among total twelve isolates of E. faecalis were isolated from the dogs treated with antibiotics. There was no methicillin-resistant Sta. aureus (MRSA), but were MR-Sta. pseudointermedius (MRSP) (57.1%) and vancomycin-resistant (VR)-Sta. pseudointermedius (14.3%) (VRSP) showing VanB phenotype. However, vanA, vanB and vanC genes were not detected in VR isolates from the dogs. Taken together, VR-Enterococcus spp. (VRE) is one of the major pathogens in domestic animals, as well as community-and hospital-acquired infection.

DENTAL TREATMENTS OF THE CHILD WITH LOWE SYNDROME : A CASE REPORT (Lowe syndrome 환아의 치과적 치료 : 증례보고)

  • Ju, Chan-Hee;Kim, Seon-Mi;Choi, Nam-Ki
    • Journal of the korean academy of Pediatric Dentistry
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    • v.39 no.2
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    • pp.161-165
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    • 2012
  • Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease. We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care. Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome.