• Journal of Genetic Medicine
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• 제13권1호
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

• Safety and Health at Work
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• 제2권4호
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• pp.355-364
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• 2011

Objectives: Though sulfur dioxide (SO2) is used widely at workplaces, itseffects on humans are not known. Thresholds are reportedwithout reference to gender or age and occupational exposure limits are basedon effects on lung functioning, although localized effects in the upper airways can be expected. This study's aim is to determine thresholds with respect to age and gender and suggests a new approach to risk assessment using breathing reflexes presumably triggered by trigeminal receptors in the upper airways. Methods: Odor thresholds were determined by the ascending method of limits in groups stratified by age and gender. Subjects rated intensities of different olfactory and trigeminal perceptions at different concentrations of $SO_2$. During the presentation of the concentrations, breathing movements were measured by respiratory inductive plethysmography. Results: Neither age nor gender effects were observed for odor threshold. Only ratings of nasal irritation were influenced bygender. A benchmark dose analysis on relative respiratory depth revealed a 10%-deviation from baseline at about 25.27 mg/$m^3$. Conclusion: The proposed new approach to risk assessment appearsto be sustainable. We discuss whether a 10%-deviation of breathingdepth is relevant.

• Clinical and Experimental Pediatrics
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• 제53권11호
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• pp.931-935
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• 2010

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood.

• 대한약학회:학술대회논문집
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• 대한약학회 2002년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2
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• pp.280.2-281
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• 2002

This presentation reports the trends of the drug abuses(DA) and the mortalities related to drug-toxicants(MDT) in the Central area of Korea in 2001. We surveyed the DA cases and MDT. which were requested to analyze the drug-toxicants in the Central district office of National Institute of Scientific Investigation. he detected drugs on DA cases were methamphetamine. marihuana. opiates. inhalants(toluene. butane. ropane). dextromethorphane. carisoprodol. benzodiazepines, nalbuphine. fenfluamine. and iscellaneous in order of cases. Men are more liable to drug abuses than women. and the most common age group was 30s. Surveys of MDT shows that the defected toxicants are paraquat(sedative). methomy(insecticide). dicholrvos (insecticide). benxodiaxeqines(anxiolytic), and miscellaneous in order do cases. Men's intoxications by the drug-toxicants are more occured than woman's And most common intoxicated age group was 40s. These trends of the DA cases and the MDT in Central Area fo Korea. can help the forensic toxicologists and government to plan the prevention policy of the DA cases and MDT as well as its future estimation.

• Child Studies in Asia-Pacific Contexts
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• 제7권1호
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• pp.27-38
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• 2017

As the use of digital media is becoming more universal and is being used in early-childhood education, understanding the effects of digital media on development is required. The purpose of this study was to examine whether child performance on a spatial cognition task depends on the type of media used to present the task and if the effect of media type is different depending on child's age and sex. To do this, a spatial cognition task set (consisting of direction, rotation, symmetry, conjugation, and part/whole tasks) was prepared, and these tasks were presented to 60 3-, 4-, and 5-year-old children using paper- and tablet-based measures. Our results showed that the correct answer rate of task performance differed significantly when completing the task on a tablet than when completing the task on paper. Generally, response times when completing the tasks on a tablet was significantly shorter than when completing the tasks on paper. Although there was no interaction between the type of media and age, and partial interaction was found between the type of media and sex. This result implies an influence of digital stimulation on child performance on the spatial cognitive task. This study provides a basic understanding for follow-up studies to examine the consequences of exposure to digital stimulation.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1535-1537
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• 2016

Background: Primary myelodysplastic syndrome (MDS) is an acquired clonal disorder of myeloid progenitor cells, characterized by peripheral cytopenias in the presence of hypercellular marrow with dysplastic features. Our aim was to study the demographical and clinicopathological features of adult Pakistani patients with MDS at disease presentation. Materials and Methods: This single centre study was conducted at Liaquat National Hospital and Medical College, extending from January 2010 to December 2014. Data were retrieved from the patient archives. Results: Overall 45 patients were diagnosed at our institution with de novo MDS during the study period. There were 28 males and 17 females. Age ranged between 18 and 95 years with a mean age of $57.6{\pm}17.4years$ and median of 64 years. The male to female ratio was 1.7:1. The main presenting complaints were generalized fatigue (60%), fever (33.3%), dyspnea (15.5%), bleeding (13.3%) and weight loss (11.1%). Examination was unremarkable in 42.2% of patients. Physical examination revealed pallor in 37.7%, followed by petechial and purpuric rashes in 20%. The commonest laboratory finding was anemia (hemoglobin < 10 g/dl in 41 (91.1%) patients. Out of these, 27 (60%) patients had normocytic anemia, followed by macrocytic (22.2%) and microcytic (8.8%). Conclusions: Primary MDS in Pakistani patients demonstrates a male preponderance. The proportion of anemic patients was high in our series with predominance of normocytic anemia. However, other clinico-hematological features appear comparable to published data.

• Asian Pacific Journal of Cancer Prevention
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• 제14권2호
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• pp.727-731
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• 2013

Background: The aim of this study was to analyze the clinicopathological and immunohistochemical features of primary central nervous system lymphoma (PCNSL) cases occurring in Indian patients and also study the utility of the crush smear preparation in intraoperative diagnosis. Materials and Methods: The immune status, clinical, radiological details, immunohistochemical profile, histopathological findings and cytological features in smear preparation of 32 cases of PCNSL were analyzed. Patients with systemic NHL and skull-base lymphomas were excluded. Results: The mean age of our patients was 52 years with a male: female ratio 1:1. A periventricular location was found in 62.5% of patients. None of our PCNSL cases were associated with AIDS. All cases except one were diffuse large B-cell lymphomas. Intraoperative diagnosis using crush smears allowed correct prediction in 93% of cases. Conclusions: Our study shows that PCNSL is seen predominantly in immunocompetent patients in India. The age of presentation is relatively young as compared to the West. Our study also stresses the utility of crush smear preparation in establishing an intraoperative diagnosis.

• Journal of Korean Neurosurgical Society
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• 제47권6호
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• pp.433-436
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• 2010

Objective : Arachnoid cysts (ACs) can be cured by making the definite and wide communication between the cyst and arachnoid space using endoscopy, but often it is impossible only through the usual working-channel (intra-channel) procedures. We discuss and propose a more valuable endoscopic technique with the presentation of our series of cases. Methods : We treated 9 patients with cortical AC in various locations with extra-channel endoscopic techniques. The patients ranged in age from 3 years to 60 years (mean age, 37.2 yrs). The follow-up period ranged from 12 to 26 months (mean follow-up duration, 17.2 months). All patients had large AC compressing the adjacent brain with clinical symptoms or signs. The authors performed extensive fenestration via single burr hole with the aid of endoscope. Being bypassed the rigid endoscope, through the space between the shaft of endoscope and guiding cannula (extra-channel method), fenestration procedures were done in the dry fields. Results : Eight (88.9%) patients had been treated successfully with endoscope. One patient required shunt procedure. Among the eight patients who were treated with endoscopic procedure, 6 patients (66.7%) showed cyst reduction, and two (22.2%) showed disappearance of cyst. Conclusion : We suggest that extra-channel method will be simple and easy to perform using more valuable instruments with wider working area, and may promise better results compared to the conventional intra-channel endoscopic procedures.

• 한국건축시공학회지
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• 제12권2호
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• pp.133-141
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• 2012

As we move from the industrial age to the information age, domestic industries are changing rapidly, and rural society is also laying the foundation to make use of information technologies. Through this kind of modernization, the size of agricultural facilities has been increasing on a significant scale. But, in reality, there are many difficulties in the maintenance of agricultural facilities in proportion to their growing number. Accordingly, this research aims to solve the fundamental problems that occur with agricultural facilities in the maintenance stage. In addition, it aims to provide information on how to maintain and manage facilities for farmers. The presentation of the maintenance information was conducted using a case-based reasoning method that solves current problems based on past cases. The tool of case-based reasoning was applied to define the establishment of the base for cases, characteristic variables and maintenance measures. The effectiveness of a CBR model was examined through the case study. The use of the case-based reasoning method is judged to be effective as a tool to support the decisions of farmers regarding maintenance. When the maintenance measures derived through the CBR model are offered to farmers, the fundamental problems of maintaining agricultural facilities will be solved, and the damage to such facilities minimized.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권4호
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• pp.224-229
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• 2015

Cyclic vomiting syndrome (CVS) is a functional disorder characterized by stereotypical episodes of intense vomiting separated by weeks to months. Although it can occur at any age, the most common age at presentation is 3-7 years. There is no gender predominance. The precise pathophysiology of CVS is not known but a strong association with migraine headaches, in the patient as well as the mother indicates that it may represent a mitochondriopathy. Studies have also suggested the role of an underlying autonomic neuropathy involving the sympathetic nervous system in its pathogenesis. CVS has known triggers in many individuals and avoiding these triggers can help prevent the onset of the episodes. It typically presents in four phases: a prodrome, vomiting phase, recovery phase and an asymptomatic phase until the next episode. Complications such as dehydration and hematemesis from Mallory Wise tear of the esophageal mucosa may occur in more severe cases. Blood and urine tests and abdominal imaging may be indicated depending upon the severity of symptoms. Brain magnetic resonance imaging and upper gastrointestinal endoscopy may also be indicated in certain circumstances. Management of an episode after it has started ('abortive treatment') includes keeping the patient in a dark and quiet room, intravenous hydration, ondansetron, sumatriptan, clonidine, and benzodiazepines. Prophylactic treatment includes cyproheptadine, propranolol and amitriptyline. No mortality has been reported as a direct result of CVS and many children outgrow it over time. A subset may develop other functional disorders like irritable bowel syndrome and migraine headaches.