• Title/Summary/Keyword: age at onset

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Mucopolysaccharidosis Type III: review and recent therapies under investigation

  • Lee, Jun Hwa
    • Journal of Interdisciplinary Genomics
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    • v.2 no.2
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    • pp.20-25
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    • 2020
  • Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a multisystem lysosomal storage disease that is inherited in an autosomal recessive manner. It consists of four subtypes (MPS IIIA, B, C, and D), each characterized by the deficiency of different enzymes that catalyze the metabolism of the glycosaminoglycan heparan sulfate at the lysosomal level. The typical clinical manifestation of MPS III includes progressive central nervous system (CNS) degeneration with accompanying systemic manifestations. Disease onset is typically before the age of ten years and death usually occurs in the second or third decade due to neurological regression or respiratory tract infections. However, there is currently no treatment for CNS symptoms in patients with MPS III. Invasive and non-invasive techniques that allow drugs to pass through the blood brain barrier and reach the CNS are being tested and have proven effective. In addition, the application of genistein treatment as a substrate reduction therapy is in progress.

Treatment of Extensive Neurofibromatosis on the Head and Neck (두경부에 발생한 광범위한 신경 섬유종증의 시험례)

  • Lee Shin-Kyu;Choi Hee-Youn
    • Korean Journal of Head & Neck Oncology
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    • v.9 no.1
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    • pp.49-55
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    • 1993
  • Neurofibromatosis is an autosomal deminant neurocutaneous systemic disease characterized by multiple Cafe-au-lait spots. generalized cutaneous neurofibromatosis. central nervous system tumors. skeletal defects and a myriad of somatic and endocrinologic abnormalities. It occurs in about 1:3000 live births and both sexes are equally affected. From 1989 to 1992, 21 patients who admitted to our department were evaluated in clinical aspects. Then we conclude as follows: 1) The onset was usually before 10 years of age. and the incidence between the sexes was approximately the same. 2) The familial tendency was approximately 48%. 3) The head and neck were the usual sites of the disease. 4) Bone changes occurred in about 24%. 5) Most of the tumor could be removed through early diagnosis to prevent recurrence. bone changes and malignant changes. And at the same time, trough reconstructive surgery, results both functionally as well as aesthetically satisfactory could be achieved.

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Clinical effect of Thymectomy for Patients in Myasthenia Gravis (근무력증 환자의 외과적 치료)

  • 정원상
    • Journal of Chest Surgery
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    • v.23 no.1
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    • pp.152-157
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    • 1990
  • A clinical study for thymectomy for 23 patients in Myasthenia Gravis was done between May, 1982 and July, 1989. at the department of Thoracic and Cardiovascular Surgery, College of Medicine, Han Yang University. Among Z3 patients, male to female ratio was 11: 12 and Age of onset was ranged from 15 years-old to 52 years-old. Previous symptom duration from diagnosis until operation was ranged from 2 months to 96 months, and Mean duration was 28.74 months. The severity of disease was classified by Osserman`s classification preoperatively. In histopathology of thymus, Thymic hyperplasia 7 cases, Thymoma 7 cases, Invasive thymoma 3 cases, Within Normal Limit 5 cases, and Thymic Atrophy 1 case. Correlation between preoperative symptom duration and postoperative clinical course was statistically significant. The shorter of preoperative symptom duration, The better of postoperative clinical course. Grading of postoperative course was classified by Papatestas in 1975. Follow-up for postoperative course was ranged from 3 months to 7 year and 4 months, Cases of complete remission 1 year postoperative period were 9 cases and cases of Improvement were 8 cases, So totally 17 cases among 23 cases[73.91%] found good results.

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Surgical Correction of Intrahepatic Inferior Vena Cava Obstruction (간내 하공정맥 폐색증의 수술요법)

  • 이정렬
    • Journal of Chest Surgery
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    • v.18 no.1
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    • pp.128-139
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    • 1985
  • Seven patients [six women and one man] with obstruction of hepatic portion of inferior vena cava was operated on, from May, 1969 to January, 1985. Of seven patients, six were undergone corrective operation for IVC obstruction and another one was not operated because of far advanced liver cirrhosis. The occlusions were found at or close to the level of diaphragm and they were membranous or diffuse with or without thrombi. Most of their symptoms were referable to either inferior vena caval or hepatic venous obstruction and onset of the symptoms was usually gradual, beginning between the age of their thirties and forties. Most of the patients showed marked elevation of peripheral venous pressure of lower extremity [29-40 cm H2O] preoperatively, which decreased significantly after corrective operation [17-30 cm H2O]. Venous catheterization for pressure study and venography were essential for confirming the diagnosis. Of six cases, in which corrective operations were done, Transatrial membranotomy with or without IVC dilatation were performed in five cases [case 1, 2, 3, 5, 6], using cardiopulmonary bypass and in another one case, bypass operation between IVC, distal to obstruction, and RA was done using Dacron tube graft under the thoracoabdominal incision. All survived and their conditions were improved.

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Function Evaulation and Related factors in The Elderly (노인의 기능 평가 및 관련요인)

  • Kang, Jeom-Deok;Kim, Jong-Bong
    • Journal of Korean Physical Therapy Science
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    • v.8 no.1
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    • pp.813-820
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    • 2001
  • Objectives: The objective of this study was to investigate function evaulation and related factors in the elderly. Methods: Korean version of ADL and IADL were measured for 40 normal in the Elderly in July 15-20. 2000. Their ages were 65 or more in years. 14 items from Modified Barthel Index and 14 items from Modified Lambeth Disability Screening Questionnaire were used. Results: The frequency of disability was the highest in Heavy homework(85.0%) folliwed by Walking on level 50 yards or moer(5.0%), Up&down stairs for 1 flight(5.0%) in 28 items from Modified Barthel Index and Modified Lambeth Disability Screening Questionnaire. Conclusions: Results indicated that no smoking and drinking at onset had high Modified Barthel Index. Modified Lambeth Disability Screening Questionnaire was associated with age.

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Epidemiology of anaphylaxis in Korean children (소아청소년에서 아나필락시스의 역학)

  • Lim, Dae Hyun
    • Clinical and Experimental Pediatrics
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    • v.51 no.4
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    • pp.351-354
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    • 2008
  • Anaphylaxis is an acute systemic reaction caused by IgE-mediated immunological release of mediators from mast cells and basophils to allergenic triggers, such as food, insect venoms, and medications. An alternative definition was recently proposed as follows: anaphylaxis is a "condition caused by an IgE mediated reaction" that is "often life threatening and almost always unanticipated." The reaction can be severe enough to lead to the rapid onset of symptoms, including dizziness, upper airway occlusion, bronchial constriction, hypotension, urticaria, cardiovascular arrhythmias and possible cardiac arrest. The incidence or prevalence of anaphylaxis in Korean pediatrics has not known. Thus, Epidemiology of Anaphylaxis in Pediatrics based on the data from Korean Health Insurance Review and Assessment Service (KHIRA) from 2001 to 2007 and questionnaire to the member of Korean Academy of Pediatric Allergy and Respiratory Disease (KAPARD) who are working at the training hospitals was studied. The incidence of anaphylaxis under age 19 is 0.7-1.0 per 100,000 year-person. The causes of anaphylaxis based on data from KHIRA were unknown (61.7%), food (24.9%), medications (12.4%), and serum (1.0%).

Two Cases of Acute Vestibular Neuronitis (급성 전정신경염 환자 2례 보고)

  • Hwang, Sun-Yi;HwangBo, Min;Jee, Seon-Young;Lee, Sang-Kon;Cho, Won-Joon
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.19 no.2
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    • pp.272-280
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    • 2006
  • Vertigo is a subtype of dizziness in which there is an illusion of movement, most commonly rotation. Acute peripheral vestibulopathy is one of the most common clinical neurologic syndromes at my age with the acute onset of vertigo, nausea, and vomiting lasting for several days and not associated with auditory or neurologic symptoms. Most affected patients gradually improve over one to two weaks, but some develop recurrent episode. We treated two patients suffered from vertigo, nausea & vomiting, nystagmus, headache with herbal medicine, acupuncture, cupping-treatment. After treatment we observed the improvement. Based on this study, it is considered that oriental medical treatment can be applied to the management of vestibular neuronitis.

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Surgical treatment of esophageal perforation (식도천공의 외과적 치처 및 임상고찰)

  • 조성준
    • Journal of Chest Surgery
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    • v.27 no.7
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    • pp.598-602
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    • 1994
  • We have experinced 20 cases of esophageal perforation from April, 1987 to August, 1993 at ourdivision of Thoracic and Cardiovascular Surgery, Korea University, Gu Ro Hospital. Here we investgates the causes of disease, symptoms and sign, locations, time lag from onset, treatment of perforation and the results.The ratio between male and female patients was 12: 8, and age ranged from 4 years to 70 years old.The cause of esophageal perforation were instrumental trauma 7 cases, stab wound 4 cases, foreign body 4 cases, spontaneous perforations 3 cases, and others 1 cases. The middle and lower portions of esophagus was frequently involved portion in our cases [11 cases of 20].The common complications after perforation were mediastinitis [6 cases] and empyema [2 cases].The method of treatment were as follows, primary repair of perforation, simple drainge techniques including simple cervical drainage and closed thoracostomy, diversion and two-staged operations during several months. There was no mortality in our cases.

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Parental Satisfaction of Korean Parents (한국 부모의 부모역할만족도)

  • 조복희
    • Journal of the Korean Home Economics Association
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    • v.32 no.5
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    • pp.97-108
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    • 1994
  • This study attempted to explore the parents' parental satisfaction in Korea. Subjects who were selected nationwidely consisted of 1237 parents with children of the kindergarten and primary school. Parental Satisfaction Scale was used to examine the related variables pertaining to parental satisfaction. The results yielded the following conclusions; 1) The period of the transition to parenthood was too short. The mean interval between marriage and first child birth was 14.4 months. 2) Whereas fathers experienced greater parental role fulfillment than mother did mothers' employment status was not correlated with parental satisfaction. 3) Number and gender of the child and parent's educational attainment were related to parental satisfaction. However age at parental onset was not found as the related variable.

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Clinical study on shoulder-arm syndrome Patients caused by VDT work (VDT 업무(業務)로 발생된 경견완장해(頸肩腕障害) 환자(患者)에 대한 임상연구(臨床硏究))

  • Shin, Hong Joong;Choi, Seung Hoon
    • Journal of Haehwa Medicine
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    • v.13 no.1
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    • pp.295-302
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    • 2004
  • Nowadays VDT(Visual Display Termimal) syndrome-especially causes disorder of skeletalmuscular structure, ophthalmic organ, neuropsychiatic parts, etc.-are so common and many people are suffering from it. The purpose of this study is to investigate the clinical result of patients diagnosed as shoulder-arm syndrome by VDT work. This study carried out on 50 patients who have been treated at Cheonan Oriental hospital(Daejon University), February 2nd, 2003 to May 31th, 2004. The patients were classified into age, sex, the period between onset and visit, symptom, clinical diagnosis and so on. And the methods of treatment were acupuncture, herbal medication, oriental physical therapy, Chuna, etc. About treatment results, Exellant were 12(24.00%), Improve were 25(50.00%), Mild improve were 11(22.00%), Failure were 2(4.00%)

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