• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Tuberculosis and Respiratory Diseases
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• 제38권3호
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• pp.287-296
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• 1991

Colonial morphology of the various yeasts often encountered in sputum or other clinical specimens was investigated on the corn meal-potato-yeast extract agar medium (GJCPY) containing orange-yellow pigments extracted from Gardenia jasminoides fruits in hopes of differential identification on primary cultures. The results obtained are as follows. 1) Cryptococcus neoformans which is a medically important yeast and whose colony showed brown to purple brown on GJCPY medium was distinguishable not only from buff colored Cr. laurentii after one week incubation but also from Candida spp. 2) Colony color of Candida albicans, a most common species in sputum specimens and of Ca. parapsilosis, a rare isolate, remained unchanged even after 15 days incubation. 3) Ca. tropicalis, second common isolate from sputums and Ca. krusei, a rare isolate, formed a characteristic rough and wrinkled colonies that permit to differentiate them from others. 4) Rare isolates, Ca. guilliermondii and Ca. lusitaniae, turned to prussian blue within three days of incubation. 5) Torulopsis sp. and Saccharomyces cerevisiae showed glossy grayish blue or light blue after one week incubation. The findings clearly showed that Ga. jasminoides pigments medium was useful to the morphological differentiation of medically important yeasts that were often encountered in sputum or other clinical specimens.

• BMB Reports
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• 제45권10호
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• pp.554-559
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• 2012

Oligosaccharide modification by N-acetylglucosaminyltransferase-V (GnT-V), a glycosyltransferase encoded by the Mgat5 gene that catalyzes the formation of ${\beta}1$,6GlcNAc (N-acetylglucosamine) branches on N-glycans, is thought to be associated with cancer growth and metastasis. Overexpression of GnT-V in cancer cells enhances the signaling of growth factors such as epidermal growth factor by increasing galectin-3 binding to polylactosamine structures on receptor N-glycans. In contrast, GnT-V deficient mice are born healthy and lack ${\beta}1$,6GlcNAc branches on N-glycans, but develop immunological disorders due to T-cell dysfunction at 12-20 months of age. We have developed Mgat5 transgenic (Tg) mice (GnT-V Tg mice) using a ${\beta}$-actin promoter and found characteristic phenotypes in skin, liver, and T cells in the mice. Although the GnT-V Tg mice do not develop spontaneous cancers in any organs, there are differences in the response to external stimuli between wild-type and GnT-V Tg mice. These changes are similar to those seen in cancer progression but are unexpected in some aspects. In this review, we summarize what is known about GnT-V functions in skin and liver cells as a means to understand the physiological roles of GnT-V in mice.

• 종양간호연구
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• 제3권1호
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• pp.15-23
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• 2003

Purpose: This study was to find out hospice nurses and other health professionals' perception on the system of hospice and palliative nurse specialist. Methods: Using questionnaire, 63 nurses and 22 other health professionals answered about the benefit required qualification, workforce standard, and the extent of autonomy needed for hospice and palliative nurse specialist. Data was collected from August, 2002 to November, 2002. and analyzed by using SPSS 10 program. Results: 1) 96.4% of the subjects perceived that hospice nurse specialist will improve the quality of care and patient satisfaction. 2) The most frequent response for the type of education required for hospice nurse specialist was one year post RN program. 3) The most frequent response for the required clinical experience of hospice nurse specialists was minimum of four to five years. 4) The most important qualification for the hospice nurse specialists was an "good relationship with others", and "clinical experience". 5) One to two hospice nurse specialist per hospice facility was viewed as a sufficient number. 6. Autonomy was viewed as the most important characteristic which should be granted to hospice nurse specialist. Conclusion: The results of this study can be used as a basic information in establishing hospice nurse specialist program.

• 치과방사선
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• 제25권1호
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• pp.159-170
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• 1995

Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclersing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows : 1. In clinical examination, there was no clinical sign and symptoms except extracted area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterally. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in which globular calcified products are deposited.

• Clinical and Experimental Pediatrics
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• 제59권10호
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• pp.395-401
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• 2016

Since the outbreak of the enterovirus 71 (EV71) infection in Malaysia in 1997, large epidemics of EV71 have occurred in the Asia-Pacific region. Many children and infants have died from serious neurological complications during these epidemics, and EV71 infection has become a serious public health problem in these areas. EV71 infection causes hand, foot and mouth disease (HFMD) in children, and usually resolves spontaneously. However, EV71 occasionally involves the central nervous system (CNS), and induces diverse neurological complications such as brainstem encephalitis, aseptic meningitis, and acute flaccid paralysis. Among those complications, brainstem encephalitis is the most critical neurological manifestation because it can cause neurogenic pulmonary hemorrhage/edema leading to death. The characteristic clinical symptoms such as myoclonus and ataxia, cerebrospinal fluid (CSF) pleocytosis, and brainstem lesions on magnetic resonance imaging, in conjunction with the skin rash of HFMD and the isolation of EV71 from a stool, throat-swab, or CSF sample are typical findings indicating CNS involvement of EV71 infection. Treatment with intravenous immunoglobulin and milrinone are recommended in cases with severe neurological complications from EV71 infection, such as brainstem encephalitis. Despite the recent discovery of receptors for EV71 in human cells, such as the scavenger receptor B2 and P-selection glycoprotein ligand 1, it is not known why EV71 infection predominantly involves the brainstem. Recently, 3 companies in China have completed phase III clinical trials of EV71 vaccines. However, the promotion and approval of these vaccines in various countries are problems yet to be resolved.

• 대한후두음성언어의학회지
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• 제19권2호
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• pp.123-127
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• 2008

Background and Objectives: Smoking has been identified as one of the main determinants of negative changes on the larynx histology. The purpose of this study is to investigate the voice characteristics and correlation between voice parameters of the smokers with vocal polyp or nodule or both of them. Materials and Method: MPT, $F_0$, jitter, shimmer, NHR of Korean /a/ vowel from 54 smokers and 50 nonsmokers diagnosed as vocal polyp or nodule were analyzed. A Computerized Speech Lab (4400) was for the analysis of each voice sample and statistical analysis was done by one-way ANOVA and Pearson correlation coefficient. Result and Conclusion: It showed that we can find difference between smokers and nonsmokers group in MPT, $F_0$, jitter, shimmer were different except NHR. each group shows difference in correlation coefficient between MPT, $F_0$, jitter, shimmer.

• 한방안이비인후피부과학회지
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• 제17권3호
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• pp.126-130
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• 2004

Oculomotor nerve palsy presents itself with sudden onset unilateral ptosis and inability to turn the eye upward, downward, or inward, which causes visual disturbances. Strabismus caused oculomotor nerve palsy refers to muscle imbalance that results in improper alignment of the visual axes of the two eyes It may be divided into paralytic and non paralytic strabismus. paralytic strabismus is primarily a neurologic problem. Characteristic clinical disturbances result from lesions of the third, fourth, and sixth cranial nerves. Lesions of the third nerve result in a paralysis of lateral or outward movement and a crossing of the visual axes. Objective: This study was designed to evaluate the effects of oriental medicine therapy on a peripheral oculomotor nerve palsy. Methods & Result: The clinical data was analyzed on a patient with oculomotor nerve palsy whose main symptoms were right side ptosis and inability to turn the eye inward. The patient was treated by the electroacupucture(4Hz frequency, intensity was adjusted so that localized muscle contractions could be seen). As the result, symptoms are improved remarkably. Conclusion: The patient showed right eye ptosis and unilateral deviation of the right eye ball in neutral position. After acupuncture treatment and electroacupuncture treatment, the ptosis and deviation of the patient's right eye was recovered six weeks after the onset. The study suggests that oriental medicine therapy is significantly effective on the treatment of peripheral oculomotor nerve palsy.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제5권1호
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• pp.184-193
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• 1994

저자들은 성학대를 경험한 소아청소년에 있어서 가족내와 가족외의 성학대형태와 가해자의 특성, 소아의 연령과 학대 형태에 따른 증상의 차이, 부모의 반응, 치료과정등의 임상적 특징을 살펴보았다. 연구대상은 1992년 1월부터 1993년 12월까지 국립서울정신병원 외래를 방문한 소아청소년 성학대아 10명을 대상으로 하였다. 가족내 성학대의 경우 가족외 성학대인 경우보다 좀더 만성적인 경과와 더 심한 가족병리를 보였고 학령전기에는 주로 신체적 증상과 불안이, 학령기에는 우울반응, 위축이 좀더 두드러졌다. 가족의 반응에서는 분노와 죄책감이 가장 흔하였고 치료는 위기개임중재, 놀이치료, 필요한 경우 입원치료가 시행되었다. 치료의 유지는 부모의 회피와 억압으로 어려움을 겪었다.

• Journal of Preventive Medicine and Public Health
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• 제42권6호
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• pp.349-355
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• 2009

Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.