• 대한유전성대사질환학회지
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• 제13권1호
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• pp.57-61
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• 2013

Glycerol kinase 결핍증(GKD)은 X-linked 열성유전되는 질환으로 생화학적으로 혈중 glycerol이 상승되고 소변으로 glycerol이 분비되는 질환이다. GK 유전자는 X chromosome 단완의 21.3 region에 위치하며, AHC gene과 DMD gene 사이에 직렬로 위치하고 있다. 만약 이부위에 긴 부분의 결손이 발생하면 이들 질환이 동시에 발생하게 되며, 이를 contiguous gene deletion syndrome이라고 부른다. 국내에서는 이 세 질환이 동시에 나타나는 contiguous gene deletion syndrome은 보고된 바 있으나 GK 결핍증만 단독으로 있었던 경우는 보고가 없었다. 저자들은 장염후의 고이화상태에서 저혈당과 의식의 혼탁으로 발현된 단독 GK 결손증을 보고하는 바이다.

• 대한한방내과학회지
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• 제38권6호
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• pp.955-970
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• 2017

Objectives: The aim of this observational study was to identify and analyze the patterns to compare the characteristics of asthma patients. Methods: The subjects were 40 asthma patients who had satisfied the inclusion and exclusion criteria. They were divided into deficiency syndrome and excess syndrome groups, and cold syndrome and heat syndrome groups. Their quality of life was measured by the quality of life questionnaire for adult Korean asthmatics (QLQAKA) and VAS. Heart rate variability (HRV) was measured, and the degree of obesity was evaluated by body mass index (BMI). Hematological, biochemical, and immunoglobulin (Ig) E laboratory tests were included. Results: Based on pattern identification, the 40 asthma patients could be divided into two categories of groups: 1) the deficiency syndrome (N=18) and the excess syndrome (N=22) groups: 2) the cold syndrome (N=35) and the heat syndrome (N=5) groups. The mean value of HF differed significantly between the deficiency and excess syndrome groups. The mean value of IgE in blood tests of asthmatics was greater than four times the reference value. For BMI, the subjects were classified into three groups: normal weight (N=12), overweight (N=12), and obese (N=16). Conclusions: Development of a more accurate asthma-specific pattern identification tool could play a crucial role in asthma control. In addition, good control of asthma can improve the quality of life. Obesity is one of the factors associated with asthma exacerbation.

• 대한예방한의학회지
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• 제6권2호
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• pp.137-146
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• 2002

Object: By process of treatment for a case which diagnosed as Churg-Strauss Syndrome and admitted from the 11th, pril, 2002 to the eight, May, 2002, the results are as follows. Methods: Clinical observation and analysis about a case of Churg-strauss Syndrome was done, who visited College of Oriental Medicine, Kyungsan University. This case was managed by integrated therapy of oriental Medicine. This Patient was diagnosed as deficiency of Yin and coagulation of phlegm(陰虛痰疽) and medicated chungsangboha-tang(淸上補下湯) and gamiyunpe-tang (加味潤肺湯). As acupuncture and moxibustion and oriental medication, we could get the effective results. Conclusion: We could get the effective results that case of Churg-Strauss Syndrome with dyspnea, sputum, cough, fatigue, sweating sign, was treated with oriental medicine, acupuncture, moxibustion.

• 혜화의학회지
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• 제9권1호
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• pp.661-689
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• 2000

We came to the conculsion after considering all of information from many kinds of books on the cause, pathogenesis and treatment of Flaccidity-syndrome. The results were as follows : 1. Flaccidity-syndrome means limb-relaxation due to muscle atony that isn't able to constraction. It's begun as mild degree from extremities, in some cases ended to quadriplegia or expire. 2. Cause factor and pathogenesis of Flaccidity-syndrome is various. After Lung fluid consuption caused by heat-evil was refered in The Yellow Emperor's Canon of Internal Medicine. They were refered as cause factor that Main channel asthenia, excess of sexual intercourse, wetness-evil, heat-evil gets into the interior, asthenia of the spleen and stomach. Since Ming Dynasty, It's classified to wetness-heat evil, wetness-phlegm, deficiency of vital energy, deficiency of blood, deficiency of yin, blood stasis and indygestion, etc. 3. In the view of treatment of Flaccidity-syndrome, Yangming was selected in The Yellow Emperor's Canon of Internal Medicine, and it's been mean to clear away wetness-heat evil located at Yangming. In the method of acupuncture it was same on the base, and many skills have been used that electronic acupuncture, point-injection theraphy, acupuncture point block, catgut implantaion at acupuncture point, cutaneous acupuncture, auriculo-acupuncture and head acupuncture by the through post generation. 4. Flaccidity-syndrome was defined to weak, disuse and non-pain. Beacause it was non-pain, so medicine to expel wind-evil was prevented to use. But through post generation Flaccidity-syndrome has been treated that is able to cause pain or numness as arthralgia-syndrome. Therefore there is tendency that medicine to expel wind-evil is capable within pathological basement of Flaccidity-syndrome in recent. 5. In the view of west-medicine, Flaccidity-syndrome is diplegia or quadriplegia with sensory disorder, muscle atropy in some cases. And there are spinal disease, peripheral nerve disease, muscular disease, nerve-muscle copula disease. The symptoms are able to amyotomia, numness, sensory disorder, pain.

• 대한한방내과학회지
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• 제28권4호
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• pp.791-796
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• 2007

Objective : This study was conducted to find the relationship between syndrome-differentiation and Sasang-constitution in chronic fatigue patients. Methods : The subjects were 72 adults with chronic fatigue who visited Dunsan Oriental Hospital of Daejeon University between March 2007 and April 2007. Their main complaint was fatigue for longer than 6 months and they did not have any physical or mental problems. We measured their fatigue degree by using Chalder fatigue scale and health habits. To evaluate relationship between syndrome-differentiation with sasang-constitution, The patients were divided into four syndrome-differentiations, such as liver and kidney asthenia of Yin, spleen and kidney deficiency of Yang, deficiency of lung and spleen qi, and deficiency of heart and spleen blood. We also diagnosed Sasang-constitution by using Questionnaire for Sasang Constitution Classification II (QSCCII). Results : Among the 72 patients, 41.4%, 34.5% and 24.1% of belonged in Soyangin, Soeumin and Taeumin respectively. Interestingly, we found a meaningful correlation between syndrome-differentiation and physiological function by Sasang-constitution. Conclusion : The result may help Oriental medicine understanding and treatment of chronic fatigue-related diseases and patients.

• Clinical and Experimental Reproductive Medicine
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• 제28권2호
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• pp.105-110
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• 2001

Objective: To evaluate the abnormality of protein S in patients with recurrent spontaneous abortion due to antiphospholipid syndrome. Material and Method: Antigen and activity of protein S were analyzed by enzyme immunoassay and clotting method, respectively. Results: Of 18 patients with antiphospholipid syndrome, 4 patients were found to have no abnormality of protein S. There were 14 cases of protein S abnormality. Among them, there were 8 cases of type 1, 1 case of type 2, and 5 cases of type 3 protein S deficiency. Conclusion: So in the workup of patients with recurrent spontaneous abortion due to antiphospholipid syndrome, the evaluation for protein S is required.

• 동국한의학연구소논문집
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• 제6권1호
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• pp.67-89
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• 1997

오장육부중(五臟六腑中)에서 심(心)은 인체(人體) 생리활동(生理活動)의 주재(主宰)으로서 장부(臟腑) 가운데에서도 수위(首位)를 차지하여 인체(人體)의 사추활동(思推活動)이나 장부기능(臟腑機能)의 협조(協調) 및 기혈(氣血)의 통창(通暢)등도 모두 심(心)의 기능(機能)에 의존(依存)하는 바이므로 심(心)을 생명활동(生命活動)의 중심(中心)이라고 한다. 본(本) 논문(論文)은 변증체계(辨證體系)의 형성과정(形成過程)을 심병변증(心病辨證)에 한(限)하여 문헌적(文獻的)으로 고찰(考察)한 것으로써, 첫째 심병(心病)의 허증분류(虛症分類)에 있어 심허증(心虛症)이라고 포괄적(包括的)으로 언급(言及)되어지던 것이 심음허증(心陰虛症)과 심양허증(心陽虛症)으로 분류(分類)되었으며, 다시 심기허증(心氣虛症) 심양허증(心陽虛症) 심혈허증(心血虛症) 심음허증(心陰虛症)으로 분류(分類)되었다가, 최근(最近)에 변증분류(辨證分類)에서는 이를 더욱 세분화(細分化)시켜 심기허증(心氣虛症) 심양허증(心陽虛症) 심혈허증(心血虛症) 심음허증(心陰虛症) 심기음양허증(心氣陰兩虛症) 심기혈양허증(心氣血兩虛症) 심음양양허증(心陰陽兩虛症) 심양포탈증(心陽暴脫證)으로 분류(分類) 발전(發展)시키고 있다. 둘째 심병(心病)의 실증분류(實證分類)에 있어 가장 중요한 것은 담(痰)과 화(火) 열(熱)의 문제(問題)였으며 이것들을 가지고 다양한 변증분류(辨證分類)를 하였는데, 초기(初期)에는 담증(痰證)과 열증(熱證)을 단지 분리(分離)하여 변증(辨證)하였던 것을, 최근(最近)에는 담증(痰證)과 화증(火證)뿐만 아니라 담화(痰火)를 같이 묶어 변증(辨證) 하였으며, 심기허심양허(心氣虛心陽虛)에서 기인(起因)된 심어증(心瘀證)을 점차 중요(重要)하게 여기는 방향(方向)으로 변증분류(辨證分類)를 하였다. 이러한 변증분류(辨證分類)의 다양화(多樣化) 세분화(細分化)는 점점(漸漸) 다양(多樣)해지는 질병양상(疾病樣相)에 보다 잘 대처하려는 연구결과(硏究結果)로 보여지며 이후로도 보다 실증적(實證的)인 연구(硏究)가 더욱 더 요망(要望)된다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.49-53
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• 2015

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. Many features of PWS indicate a deficiency in growth hormone (GH) production, and these findings provide a rationale for GH therapy in PWS. It is possible that rhGH therapy could have beneficial effects in adults with PWS, similar to those in adults with GH deficiency (GHD) of non-syndromic cause. However, there is a paucity of data on the use of GH in adults with PWS. Here, the previous studies about efficacy and safety of rhGH therapy in PWS adults are summarized. Briefly, rhGH therapy in PWS adults may improve body composition, leading to increased lean body mass and decreased fat mass, as well as decreased subcutaneous and visceral adiposity without overall changes in body mass index. There may be at least transient deterioration in glucose homoeostasis in some PWS patients on rhGH therapy, which requires further study. In addition, clinical care guidelines for rhGH therapy in adults with PWS were suggested.

• 수면정신생리
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• 제28권2호
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• pp.43-52
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• 2021

Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyperarousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most important pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interactions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an increase in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.