• Title/Summary/Keyword: Syndrome

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Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome

  • Lee, Kyung Yeon;Lee, Kun-Soo;Weon, Young Cheol
    • Clinical and Experimental Pediatrics
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    • v.56 no.12
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    • pp.540-544
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    • 2013
  • Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

Effects of Life Style on Metabolic Syndrome Stage according to the Sasang Constitution (사상체질에 따른 생활습관이 대사증후군 및 위험군에 미치는 영향)

  • Kim, Jiyoung;Lee, Siwoo;Baek, Younghwa
    • Journal of Sasang Constitutional Medicine
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    • v.29 no.3
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    • pp.232-241
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    • 2017
  • Objectives This study was to identify the lifestyle associated with metabolic syndrome and to suggest a personalized health management according to the constitution to prevent disease by metabolic syndrome stage. Methods This study used the data of Korean medicine Data Center (KDC). A total of 8,985 data were searched for subjects who participated in Anseong and Ansan cohorts study from 2009 to 2012. We analyzed 2,602 participants that diagnosed with metabolic syndrome among the ages of 30 to 55. We divided into three groups, none, pre-metabolic syndrome (Pre-MetS), and metabolic syndrome (MetS), according to number of metabolic syndrome elements. Results The prevalence of metabolic syndrome was highest in Taeumin (Pre-MetS: 48.2%, MetS: 41.2%). The risk factors for metabolic syndrome are dietary amount, speed of eating, and sleep quality in Taeumin, and dietary amount and sleep quality in Soyangin. Conclusions The life style affecting the metabolic syndrome were different according to the constitution. It is necessary to manage life style considering the Sasang constitution

Genetic Syndromes Associated with Craniosynostosis

  • Ko, Jung Min
    • Journal of Korean Neurosurgical Society
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    • v.59 no.3
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    • pp.187-191
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    • 2016
  • Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

Investigation on the Meridian-Muscle Therapy for Myogenic Nerve Entrapment Syndrome (경근요법(經筋療法)을 통한 근원성 신경 포착 증후군의 치료)

  • Heo, Su-Young;Choi, Jin-Man;Seo, Hae-Kyung
    • The Journal of Korea CHUNA Manual Medicine
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    • v.2 no.1
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    • pp.43-50
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    • 2001
  • Objectives : Scalenus anticus syndrome and Piriformis syndrome is representative of myogenic Nerve entrapment syndrome, and their clinical symptoms are similar to HIVD(herniated Intervertebral disc) of cervical or lumbar spine. But, distinguished by muscle test, these syndrome apply to Meridian-muscle therapy. Methods : Meridian-muscle therapy consists of Ashi(阿是)-point therapy, taping therapy, myofascial release technique, manipulation, their based on the traditional meridian-muscle theory. This theory is similar to myofascial pain syndrome in western medicine. The study population consisted of 9 patients who were already diagnosed as Nerve entrapment syndrome with radiological examination & physical examination and muscle test. The evaluation of clinical outcome was done by Visual Analogue Scale (VAS) and Pain Assesment Questionnaire(PAQ). Results and Conclusions : After treatment, All patient's VAS is decreased as $2.11{\pm}1.59$ and the evaluation of clinical effect was excellent(6 cases) or good(3 cases) according to PAQ. Conclusively, Meridian muscle therapy is efficacious against Nerve entrapment syndrome.

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Metabolic Syndrome Prevalence and Lifestyle by Age and Metabolic Syndrome Status in Women Religious (여성수도자의 연령별 대사증후군 유무별 대사증후군 위험요인과 생활습관 차이)

  • Kim, Yang-Hee;Kim, Hee-Seung
    • Journal of Korean Biological Nursing Science
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    • v.17 no.1
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    • pp.11-18
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    • 2015
  • Purpose: The purpose of this study was to analyze the prevalence, risk factors of metabolic syndrome, and lifestyle in religious women by age and metabolic syndrome status between the metabolic syndrome group and the normal group. Methods: As the subjects for this study, 125 religious women in the city of D, H, S, Y, participated in this study. The diagnostic criterion of metabolic syndrome used was the National Cholesterol Education Program Adult Treatment Panel III. Results: The prevalence of metabolic syndrome was higher as the religious women got older. The metabolic syndrome group in their forties showed higher waist circumference, triglycerides, and lower HDL-cholesterol than the normal group. Among those in their fifties, the metabolic syndrome group had higher waist circumference, fasting glucose, triglyceride and lower HDL-cholesterol than the normal group. In their sixties, the metabolic syndrome group had higher fasting glucose, triglyceride and systolic blood pressure than the normal group. Conclusion: The metabolic syndrome group in their forties showed that their practice rate of 'trying to avoid stresses at work', 'taking prescription medicines' was low. For those in their fifties, the practice rate of 'reducing overeating' and 'choice of low fat meats' was low. Finally, in the group of those in their sixties, 'reducing fried foods' was low.

Concurrent SHORT syndrome and 3q duplication syndrome

  • Boaz, Alexander M.;Grasso, Salvatore A.;DeRogatis, Michael J.;Beesley, Ellis N.
    • Journal of Genetic Medicine
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    • v.16 no.1
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    • pp.15-18
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    • 2019
  • SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Comparative Review of Treatment Based on Syndrome Differentiation and Treatment Based on Syndrome Differentiation from Disease - Emphasis on Hypertension and Headache - (변증논치(辨證論治)와 병증변치(病證辨治) 장단점의 비교고찰 - 고혈압과 두통의 예를 중심으로 -)

  • Gi, Youjong;Shin, Sunjoong;Han, Wonyoung;Kim, Hyundo;Han, Yoochang;Lee, Sundong
    • Journal of Society of Preventive Korean Medicine
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    • v.21 no.1
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    • pp.9-17
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    • 2017
  • Objectives : Comparative review was rendered to evaluate strengths and weaknesses of two common treatment approaches of treatment based on syndrome differentiation and treatment based on syndrome differentiation from disease. A typical symptom of headache from hypertension was chosen for substantial approach of this review. Methods : Pros and cons of two different approaches to disease were evaluated based on literatures and texts focusing treatment based on syndrome differentiation and treatment based on syndrome differentiation from disease. Headache can be correlated with hypertension yet it can be induced by multiple other factors, and headache may/may not accompany hypertension. Hypertension is an example of treatment based on syndrome differentiation from disease and headache can be an example of treatment based on syndrome differentiation. Results : Treatment based on syndrome differentiation can give more autonomy and flexibility in approach to the disease, Intuition, experience, and traditional medical theory can be applied with ease. However, management and eradication of diseases are difficult and standardization of treatment is not easy among practitioners. Treatment based on syndrome differentiation from disease incorporated merits of both eastern and western medicines, achieving more evidence based diagnosis and treatment. Eradication and standardization of disorders are possible with the latter approach. Conclusions : Comparing two systems of treatment based on syndrome differentiation and treatment based on syndrome differentiation from disease with emphasis on hypertension and headache yielded medical values. Treatment based on syndrome differentiation from disease appears to be superior in medical values and effectiveness, but further evaluation and interest are needed to make advancement in Korean traditional medicine.

The Association of Pulse Pressure and Pre-Metabolic Syndrome in Korean Middle Aged Men

  • Shin, Kyung-A
    • Biomedical Science Letters
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    • v.23 no.2
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    • pp.73-79
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    • 2017
  • Pulse pressure is an independent risk factor for cardiovascular disease. The aim of the present study was to assess the association between pulse pressure and metabolic syndrome in Korean men. The study subjects were 8,439 adults aged 40 to 64 years, who underwent health screening examination from January 2012 to December 2014 at the Health Promotion Center of one hospital in Gyeonggi-do for general health check-up. They include the metabolic syndrome absent group (Absent, n=3,078), the pre-metabolic syndrome group (Pre-MetS, n=4,242) and the metabolic syndrome group (MetS, n=1,119). Progressive increase in pulse pressure was demonstrated for increasing components of the metabolic syndrome (P<0.001). The pulse pressure according to the degree of the metabolic syndrome was higher in the pre-MetS and MetS groups compared to the Absent group (P<0.001). Systolic and diastolic blood pressure, total cholesterol, triglyceride, fasting glucose, and abdominal obesity positively correlated with pulse pressure (P<0.001).

A Case of Nephrotic Syndrome in Behcet Syndrome (신 증후군을 동반한 베체트 증후군(Behcet syndrome) 1례)

  • Juhng Woo-Suk;Kim Hye-Young;Lee Dae-Yeol
    • Childhood Kidney Diseases
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    • v.2 no.1
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    • pp.73-76
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    • 1998
  • Behcet syndrome is a multisystem disease complex of unknown cause. It is usually manifested by aphthous oral and genital ulcers, uveitis and skin eruption. Less frequently, CNS involvement, colitis, large vessel vasculitis, and myocarditis occur. Recently, several studies have reported renal manifestations of amyloidosis and focal necrotizing glomerulonephritis in Behcet syndrome. We describe a patient with Behcet syndrome who experienced nephrotic syndrome with focal effacement of epithelial foot process in glomeruli. A brief review of literature ensues.

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A Study on the Syndrome of Soseunggitang(小承氣湯證) in Sanghanlon(傷寒論) (『상한론(傷寒論)』 소승기탕증(小承氣湯證)에 대한 연구(硏究))

  • Bang, Jung-Kyun
    • Journal of Korean Medical classics
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    • v.27 no.1
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    • pp.57-65
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    • 2014
  • Objective : The syndrome of daeseunggitang(大承氣湯證) and the syndrome of soseunggitang(小承氣湯證) are different from pathogenesis of the dry stool(燥屎). Due to the lack of body fluid the syndrome of soseunggitang(小承氣湯證)'s dry stool occurs. However, Soseunggitang(小承氣湯) does not have the appropriate remedy. So I will propose a suitable remedy and I suggest it will be available for disease. Method : Study on the syndrome of soseunggitang in Sanghanlon(傷寒論). Result : The syndrome of soseunggitang and Soseunggitang are not corresponded with each other. The treatment of promoting production of body fluid to relax bowels is necessary for the syndrome of Soseunggitang. Conclusion : Through the analysis, I have the following conclusions. Jeungaegseunggitang(增液承氣湯) is more suitable for the syndrome of soseunggitang. Soseunggitang is suitable for disease accompanied by interior heat and dampness.