• Title/Summary/Keyword: Cerebrovascular disorder

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A Case of Moyamoya Disease in a Child with Alagille Syndrome (Alagille 증후군 환아에서 발생한 Moyamoya병 1례)

  • Lim, Mi Rang;Lee, So Yaun;Kim, Deok Soo;Kim, Kyung Mo;Ko, Tae Sung
    • Clinical and Experimental Pediatrics
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    • v.46 no.1
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    • pp.86-90
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    • 2003
  • Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse vascular abnormalities, which appear to be a feature of Alagille syndrome, suggest Notch signaling pathway defects affect angiogenesis. The associations of Alagille syndrome with moyamoya disease, the chronic cerebrovascular occlusive disease, were reported and suggested as additional evidence of vasculopathy of Alagille syndrome. We report another 25 month-old Alagille syndrome girl who presented with acute left hemiparesis and was diagnosed with moyamoya disease through the cerebral angiographic study.

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

  • Kwon, Soonhak;Park, Jin-Sung;Jung, Jae Hun;Hwang, Su Kyeong;Kim, Yeo Hyang;Lee, Yun Jeong
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.28-33
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    • 2018
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

A Survey on Ancient Literature Records on Woohwangchungsim-won and its potential clincial application (우황청심원의 고문헌기록 및 실험적 연구결과 분석을 통한 임상응용 확대의 필요성 고찰)

  • Oh, Young-Taeck;Oh, Hyeon-Muk;Kim, Seo-Woo;Kim, Won-Yong;Son, Chang-Gue;Cho, Jung-Hyo
    • Journal of Haehwa Medicine
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    • v.26 no.1
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    • pp.1-10
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    • 2017
  • Objectives: The aim of this study is (1) to investigate the historic changes and pharmacological efficacies of Woohwangchungsim-won and (2) to discuss the necessities for Woohwangchungsim-won's clinical applications. Methods: This study was performed through (1) investigating the ancient literature records related with Woohwangchungsim-won and analyzing Woohwangchungsim-won's composition, dosage and indications, (2) searching articles about Woohwangchungsim-won on 10 major Korean web and 3 major foreign web article search engines and analyzing Woohwangchungsim-won's pharmacological efficacies and indications. Results: Woohwangchungsim-wom has been used for cerebrovascular diseases such as stroke and palpitation. Also, there are some ancient literature records of Woohwangchungsim-won's clinical applications in neuropsychiatric disorders such as depression and bipolar disorder. In addition, there have been a number of experimental studies which demonstrate Woohwangchungsim-won's neuroprotective effect on cerebral cortex and hippocampus injury. So, it is possible to infer that Woohwangchungsim-won can be used for the treatments of neuropsychiatric disorders associated with neuronal cell death in cerebral cortex and hippocampus. But there have been no or less experimental studies which demonstrate the pharmacological efficacy of Woohwangchungsim-won on such disease. Conclusion: It is necessary that further experimental studies which demonstrate Woohwangchungsim-won's pharmacological efficacy on neuropsychiatric disorders should be done and Woohwangchungsim-won's clinical applications should be expanded on the basis of those related experimental results.

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Prevalence of Patent Foramen Ovale and Diagnostic Efficacy of Transcranial Doppler Sonography in Cryptogenic Ischemic Stroke Patients

  • Kim, Dae-Sik;Kim, Byung-Weon;Cho, Sung-Jun
    • Biomedical Science Letters
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    • v.15 no.1
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    • pp.17-23
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    • 2009
  • The prevalence of patent foramen ovale (PFO) in healthy persons was estimated as about $10{\sim}25%$ and was up to 40% in patients with stroke. Transesophageal echocardiography (TEE) was considered to be the most sensitive method to detect PFO and was used as the gold standard. Transcranial doppler sonography (TCD) of the middle cerebral artery (MCA) during a contrast (saline bubble) injection has recently been proposed as an alternative detecting method for PFO. In this study, we would like to know the difference between TCD value and TEE value in subjects with cryptogenic ischemic stroke. We performed TCD and TEE tests to detect PFO on 64 patients (30 women and 34 men, mean age was 59.4 years) with cryptogenic ischemic stroke. PFO prevalence through TCD was 45.3% (29 of 64 patients) and the prevalence through TEE was 34.4% (22 of 64 patients). There was no statistical significance between PFO test and TCD test (P=0.206). But TCD had a sensitivity of 90.9% (20 of 22 patients), specificity of 78.6% (33 of 42 patients), positive predictive value of 69.0% (20 of 29 patients), and negative predictive value of 94.3% (33 of 35 patients). We concluded that TCD was a highly sensitive method for detecting a right-left shunt. Therefore, the non-invasive TCD test is a method more effective than the anti-invasive TEE test in the cost and evaluation of the existence or nonexistence of right to left shunt in addition to the screening method of the cerebrovascular disorder. Considering these points, TCD test could be recommended for patients with cryptogenic ischemic stroke as a useful and convenient method for screening of the existence or nonexistence of a right to left shunt caused by PFO.

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Research Trend on the Clinical Application of Dong-gi Acupuncture Treatment - Focusing on Korean and Chinese Journals - (동기침법의 임상 활용에 관한 연구 동향 - 한국과 중국을 중심으로 -)

  • Lee, Ji Yun;Lee, Seung Wook;Kim, Do Hyung;Koo, Sung Tae;Lee, In
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.26 no.5
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    • pp.599-609
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    • 2012
  • The purpose of this study is to review the trend of Dong-gi acupuncture treatment and to suggest the future direction of its study. We performed literature search using KISS, RISS, NDSL, DBpia, OASIS, National Assembly Library and CNKI. We categorized literatures by year, diseases or symptoms, type of articles, motion types, acupoints, and clinical methods. There were few Korean researches found, but recently research in China has been growing rapidly. According to the researches, Dong-gi acupuncture treatment has been mainly used for painful symptoms of musculoskeletal diseases using distal acupoints. However, its field of application has been widening. It has been shown to be effective for a variety of diseases like cerebrovascular disease or neurologic disorder. We expect Dong-gi acupuncture treatment to be widely applied for various diseases and more clinical studies performed to prove the curative effect on various diseases.

Fabry disease: current treatment and future perspective

  • Han-Wook Yoo
    • Journal of Genetic Medicine
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    • v.20 no.1
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    • pp.6-14
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    • 2023
  • Fabry disease (FD), a rare X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A gene gene encoding α-galactosidase A (α-Gal A). The functional deficiency of α-Gal A results in progressive accumulation of neutral glycosphingolipids, causing multi-organ damages including cardiac, renal, cerebrovascular systems. The current treatment is comprised of enzyme replacement therapy (ERT), oral pharmacological chaperone therapy and adjunctive supportive therapy. ERT has been introduced 20 years ago, changing the outcome of FD patients with proven effectiveness. However, FD patients have many unmet needs. ERT needs a life-long intravenous therapy, inefficient bio-distribution, and generation of anti-drug antibodies. Migalastat, a pharmacological chaperone, augmenting α-Gal A enzyme activity only in patients with mutations amenable to the therapy, is now available for clinical practice. Furthermore, these therapies should be initiated before the organ damage becomes irreversible. Development of novel drugs aim at improving the clinical effectiveness and convenience of therapy. Clinical trial of next generation ERT is underway. Polyethylene glycolylated enzyme has a longer half-life and potentially reduced antigenicity, compared with standard preparations with longer dosing interval. Moss-derived enzyme has a higher affinity for mannose receptors, and seems to have more efficient access to podocytes of kidney which is relatively resistant to reach by conventional ERT. Substrate reduction therapy is currently under clinical trial. Gene therapy has now been started in several clinical trials using in vivo and ex vivo technologies. Early results are emerging. Other strategic approaches at preclinical research level are stem cell-based therapy with genome editing and systemic mRNA therapy.

Mechanical Thrombectomy for Refractory Cerebral Venous Sinus Thrombosis in a Child with Nephrotic Syndrome : A Case Report

  • Jing Ye;Yuan Yang;Weifeng Wan;Xuntai Ma;Lei Liu;Yong Liu;Zhongchun He;Zhengzhou Yuan
    • Journal of Korean Neurosurgical Society
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    • v.66 no.6
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    • pp.735-742
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    • 2023
  • Nephrotic syndrome (NS) is associated with cerebral venous sinus thrombosis (CVST), which is a rare cerebrovascular disorder in children. Systemic anticoagulation with heparin is the standard therapy for CVST, and mechanical thrombectomy (MT) has been described as a salvage treatment for adult anticoagulant refractory CVST, However, it has never been reported in children. We describe a case of MT for refractory CVST in a child with NS. A 13-year-old boy with newly diagnosed NS presented to an emergency department with acute headache. A head computed tomography showed acute thrombus in the superior sagittal sinus, straight sinus and transverse sinus. The child was started on heparin therapy, but clinically deteriorated and became unresponsive. In view of the rapid deterioration of the condition after anticoagulation treatment, the patient received intravascular treatment. Several endovascular technologies, such as stent retriever and large bore suction catheter have been adopted. After endovascular treatment, the patient's neurological condition was improved within 24 hours, and magnetic resonance venography of the head demonstrated that the CVST was reduced. The child recovered with normal neurological function at discharge. This case highlights the importance of considering MT for refractory CVST, and we suggest that MT may be considered for refractory CVST with NS in children.

A Retrospective Study on the Effect of 1-Year Clozapine Administration on Platelet Activity in Patients with Schizophrenia or Schizoaffective Disorder (조현병/조현정동장애 환자에서 1년간의 Clozapine 투여가 혈소판 활성도에 미치는 영향에 관한 후향적 연구)

  • Jang, EunJa;Lee, Jong Wook;Kim, Seung-Jun;Oh, Hong-Seok;Im, Woo Young;Lee, Na-Hyun;Kim, Ji-Woong
    • Korean Journal of Psychosomatic Medicine
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    • v.28 no.1
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    • pp.36-41
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    • 2020
  • Objectives : Clozapine has been known to increase the possibility of developing cardio/cerebrovascular diseases, and the platelet activation has been deemed to be related to the occurrence of them. In author's previous study, we observed the increase of platelet activity with short-term clozapine administration. This study was conducted, as a follow-up study, to investigate the effect of clozapine on the platelet activity when administered continuously for long-term period of time of 1 year. Methods : The medical records of the patients with schizophrenia or schizoaffective disorder who were treated with clozapine for 1 year were retrospectively reviewed. The degree of platelet activation was assessed by measuring the mean platelet component. Results : Total of 24 patients were enrolled. 9 of them (37.5%) were male and 15 of them (62.5%) were female. In the Wilcoxon sign-ranks test, no significant change was observed between the mean platelet factor values at the beginning and at the end of one year. Conclusions : No significant changes of mean platelet activity were observed after continued administration of clozapine for 1 year. Considering the author's previous findings that observed a prominent decrease of mean platelet component after short-term clozapine administration, the result of this study suggests the possibility that the activity of the platelet may change depending on the duration of the clozapine administration.

The Hope of the Stroke Patients (뇌졸중환자의 희망)

  • 김이순
    • Journal of Korean Academy of Nursing
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    • v.27 no.1
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    • pp.212-227
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    • 1997
  • Cerebrovascular diseases in Korea is an important health problem since mortality and mobidity have been increased rapidly. It marked the 2nd cause of specific death rates in 1993. The stroke causes physical function disorder due to hemiparalysis and emotional disorder, and stroke patients experience helplessness, powerlessness. sense of alienation and loss of hope. These feelings make the rehabilitation difficult because they lose the will of life. The subjects of the study were seven citizens who live in Pusan, are over 50 years old and belong to low income-level. The data were collected from Jan. to Sep. 1995. The researcher as a caregiver and volunteer made confidence of them and asked for their agreement on the purpose of the study. The subjects expressed their experience as openheartedly as possible. The analysis of the data was made through the phenomenological analytic method suggested by Giorgi, which is as follows ; as an unit of description which include the subject' expressions and the researcher's observation, it is examined the theme that express the hope experience with the subject's language(underlining), and the focal meanings are identified. The focal meaning is the crystalization of the theme, which is written in the language of the researcher. After intergrating the focal meaning and make the situated structural description as the meaning of the hope experience identified on each subject's point. After intergrating the situated structural description and make the general structural description as the meaning of the hope experience identified on total subject's point then the systemizing of the structure of the hope experienced phenomena and the flowing of the conciousness was researched. The conclusions of this study was as follows : The ten sources of hope which the subjects experienced were sorted as under 〈mutual relations to others : spouse, children, relatives, fellow believer. health professioner. associate patient group〉, 〈spiritual dependence〉. 〈recovery of physical function〉. 〈rumination of the past life〉, 〈expectation of the future〉. 〈economic power〉, 〈belief〉, 〈ability〉. 〈spontaneous participation〉 and 〈recovery of roles〉. Their hope was spoken out by the following two kinds of linguistics. First. the hope was expressed in the affirmative expression as follows : 〈 to be dependable〉, 〈to make efforts〉, 〈to keep under control〉, 〈to desire〉, 〈to be pleasant〉, 〈to be peaceful〉, 〈to be grateful〉, 〈to give help〉, 〈self-confidence. Courage〉, 〈to be happy〉, 〈to satisfy oneself〉, 〈to share with others〉, 〈to understand〉 and 〈to be affected, be impressed〉 Second, the hope was expressed in the negative on pression as under : 〈to be distressed〉, 〈to be uneasy〉, 〈to be sorry, be unsatisfied〉 〈despair〉, 〈to abandon〉, 〈to be fearful〉, 〈to suffer〉, 〈to bear a burden〉 〈to be confused〉, 〈to be solitary〉, 〈chest trouble〉, 〈to feel heavy〉 〈grief〉, 〈to be daunted〉, 〈to get angry〉, 〈to be uncomfortable〉, 〈to have something regretable〉 and 〈to feel guilty〉. And their hope was expressed by the following four behavioral expressions : 〈physical sphere〉, 〈psychological sphere〉, 〈social support sphere〉 and 〈spiritual sphere〉. The reaction patterns of their hope experience appeared in the following 4 coping method : 〈conquest type〉, 〈dependence type〉, 〈adaptation type〉 and 〈fate type〉. Finally, in the hope structure the sense of certainty don't always coexict with the sense of uncertainty, When the stroke patients try to search for the best quality of life, the senses of certainty and uncertainty make a continual cyclic system in the hope structure.

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The Correlation between Perceived Social Support and Hope of Stroke Survivors (뇌졸중 환자가 지각하는 사회적 지지와 희망과의 관계)

  • Kim, Kyung-Ok;Cho, Bok-Hee
    • The Korean Journal of Rehabilitation Nursing
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    • v.4 no.1
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    • pp.58-72
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    • 2001
  • A Cerebrovascular accident(CVA), or Stroke is a medical emergency that occurred when the blood supply to the brain is interrupted or blocked. The stroke causes physical function disorder due to hemiparalysis and emotional disorder. Also the stroke patients experience helplessness, powerlessness, sense of alienation and loss of hope. These feelings make the rehabilitation difficult because they lose the will of life. The purpose of this study is to identify the correlation between perceived social support and hope of stroke survivors. The subjects for this study were 100 out-patients with stroke in one general hospital and oriental medicine hospital located in Mokpo. The data were analysed by frequency, t-test, ANOVA. Duncan test, Pearson's correlation, using the SPSS WIN 9.0 program. Data were collected from July 11 to September 9, 2000, using a structured questionnaire. The instruments used for this study : The social support scale developed by Park, Ji-won(1985) and the hope scale developed by Miller(1988). The results were as follows. 1. It was found that the higher the degree of perceived social support, the higher the degree of hope(r=.726, p=.000). Therefore hypothesis was supported. 2. The mean score of perceived social support was 77.8(SD=21.0) with a score range from 27.0 to 104.0. 3. The mean score of perceived hope was 117.0(SD=25.7) with a score range from 57.0 to 160.0. 4. The level of social support depending on general characteristics were significantly different in variables such as marital status(t=3.131, p=.010). degree of income satisfaction(F=16.027, p=.000). 5. The level of hope depending on general characteristics were significantly different in variables such as marital status(t=2.681, p=.040). current job(t=-2.055, p=.043) degree of income, satisfaction(F=11.363, p=.000). For these subjects, there was a significant relationship between social support and hope. The stroke survivors need social support to inspire their hope. Nurses should plan interventions to enhance social support for patients with stroke. The above results may be used as the basic data to seek more efficient way of elevating nursing practice and rehabilitation for the patients with stroke.

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