• Journal of Genetic Medicine
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• 제17권2호
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• 대한소아신경학회지
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• 제26권4호
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• pp.288-291
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• 2018

편마비편두통은 조짐편두통의 드문 아형으로 완전히 회복 가능한 운동 조짐이 동반되며, 가족편마비편두통과 산발편마비편두통으로 나뉘고, 현재까지 가족편마비편두통과 관련된 3가지의 유전자들이 알려져 있다. 전형적인 편마비편두통은 유년기 혹은 청소년기에 시작되며, 20-30분에 걸쳐 점차 진행하는 조짐 증상들이 연속적으로 두통과 동반되어 나타난다. 조짐은 시각, 감각, 운동, 실어성 조짐 등이 흔하고, 종종 기저형편두통의 증상으로도 발생한다. 위약감은 감각 조짐이 나타나는 곳과 관계가 있으며, 감각-운동 조짐은 대개 한쪽 손에서 시작하여 점차 팔과 얼굴 쪽으로 퍼져 간다. 언어 장애는 주로 표현의 장애로 나타나지만, 드물게는 이해의 장애가 동반되기도 한다. 본 증례는 동측 상지의 조짐은 없었고 우측 안면부터 동측 하지로 감각-운동 증상이 진행되었는데 저자가 아는 한 이와 같은 경과를 보인 편마비편두통에 대한 증례 보고는 없었다. 증상 발현 초기 벨 마비로 오인할 수 있는 경과를 보였기에, 편측안면마비를 호소하는 경우 벨 마비 외에 드문 원인으로 뇌졸중 및 편마비편두통 등도 고려해 볼 필요가 있겠다.

• 정신신체의학
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• 제5권1호
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• pp.12-30
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• 1997

The psychiatric interview is not a random or arbitrary meeting between doctor and patient. It is a systematic attempt to understand the relationship of psychopathology to emotional conflicts in patient, and interviewing is an in rather than a science, a skill that can be acquired but probably not taught. The faculty of the Seoul National University Hospital, Department of Psychiatry, have been providing 12 sessions of seminar on Psychiatric Interview and Psychopathology every year for the first year residents for the past 15 years. The authors presented three cases materials with their understandings of psychopathology and psychodynamics, each of which the authors had performed live interviews for 50 minutes in front of the residents. Those are a young male with conversion disorder whose chief complaints was motor aphasia, a young college girl with paranoid schizophrenia whose chief complaints were persecutory and erotic delusions with auditory hallucination, and a climacteric female in delusional disorder who had a delusion of infidelity. The most frequent questions the residents raised after the presentations were on the significances of the first interview, danger of making the diagnoses with short interviews, and methodology of questionings and not-questionings. In reply the authors discussed the importance of understandings of psychopathology and psychodynamics, the flexibility of the techniques of interviewing, and priority-related matters in which the understanding of psychodynamics proceed to the diagnoses.

• 사상체질의학회지
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• 제34권2호
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• pp.48-64
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• 2022

Objectives The purpose of this study was to review and evaluate the clinical evidence of the efficacy and safety of treatment based on Sasang constitutional medicine (SCM) for post-stroke patients by systematic review and meta-analysis. Methods Randomized controlled trials (RCTs), published in 10 electronic databases up to December 2020, were searched. For the included studies, Cochrane's risk of bias assessment was performed to analyze the methodological quality. The strength of evidence was evaluated using the grading of recommendations assessment, development, and evaluation system based on the results of analyses. All review processes were performed by two independent researchers. Results Five RCTs were finally included. All included RCTs were conducted for one month on post-stroke patients in 60-80s, four studies on Tae-Eum patients and one study on So-Yang patients. Four types of constitution-specific herbal medicine (Chungpyesagan-tang, Cheongsimsanyak-tang, Yeoldahanso-tang, and Yangkyuksanhwa-tang) and constitution-specific acupuncture therapy were identified as interventions. More than half of the included studies were evaluated as low quality due to the high-risk of bias in selection, performance, and detection. The combination of constitution-specific herbal medicine, acupuncture, and conventional treatment was more effective in improving the patients' motor impairment, dysphagia, aphasia, and depression than conventional treatment alone. No serious adverse events by SCM treatment were reported. Conclusions SCM treatment may improve the sequelae of post-stroke patients safely in combination with conventional treatment. Since the quality of clinical evidence included in this study was low, higher quality clinical evidence obtained in well-designed clinical studies will be needed.

• 대한한의학회지
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• 제15권2호
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• pp.28-39
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• 1994

Clinical studies were made on 79 cases with thalamic hemorrhage diagnosed by computed tomographic scan and only localized on the thalamic area, were admitted to the Kyung San University Taegu Oriental Medical Hospital from August 1990 to March 1994. The age and sex distribution, sites of hematoma, recurrence rate, incidence of hypertension, inducing factor, prodromal syndroms, symptoms and neurologic signs on admission, relationship between the hospital course and many factors affecting the prognosis such as age, side of hematoma, level of consciousness, volume of the hematoma. ventricular hemorrhage were analysed. The results were summarized as follows; 1. The most prevalent age group was above 60 years of age with 50-59 years, 70-79 years, 40-49 years and 80-89 years of age in the order of frequency. Male to female ratio was 1:1.55. 2. The ratio of left hematoma to the right was 1.32:1. The recurrence rate of cerebrovascular accident was 17.7% 3. The incidence of hypertension was 69.6% and inducing factors of thalamic hemorrhage in the order of frequency were physical work(29.1%), drinking or eating(13.9%), walking(12.7%) and rest(12.7%), The prodromal syndroms were numbness of extremities(5.1%), headache(2.5%), fatigue(2.5%), dizziness(1.3%), insomnia(1.3%), but prodromal syndrom was not found in 89.9% of thalamic hemorrhage. 4. The symptoms and neurologic signs on admission in the order of frequency were motor disturbance(98.7%), dysarthria(82.3%), positive Babinski sign(78.5%), headache(69.6%), dizziness(62.0%). hemisensory deficit(48.1%). nausea or vomiting(39.2%), absent or sluggish light reflex(35.4%), changes of consciousness (35.4%), dysphagia (20.3%), voiding difficulty.(13.9%), facial palsy(6.3%), aphasia(3.8%), seizure(38%), 6th N. palsy(3.8%) and small pupil(1.3%). 5. The rate of improvement was found almost equally in the 4th, 5th and 6th decades, but it was shown with dramatic decrease in the over 7th decades. The hospital course had no relationship with the side of hematoma but the level of consciousness had influence upon the prognosis. 6, The small hematoma had better outcome than large in the volume of hematoma under 15cc, but volume of the hematoma had no influence upon the prognosis because the rate of improvement was 75.0% in the volume of hematoma over 15cc. The hospital course had no relationship with ventricular hemorrhage.

• 대한한의학회지
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• 제31권1호
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• pp.81-92
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• 2010

Objectives: The objective of this study was to assess bra in activation and difference by LI11 or ST36 acupuncture stimulation using functional MRI (fMRI). Methods: A total of 10 healthy right-handed volunteers were studied. LI11 acupuncture and ST36 acupuncture stimulations were applied in order on the left. The block design paradigm of RARARA was used for the task, with R representing rest and A representing stimulation, and each period lasted 30 seconds. fMRI data were analyzed using SPM2. Results: The left LI11 acupuncture stimulation activated both sides of the inferior parietal lobule, the left side of the extra-nuclear, culmen and inferior semi-lunar lobules. On the right side, the nodule and midbrain regions were activated by the left LI11 acupuncture stimulation. The left ST36 acupuncture stimulation activated the right side of the superior frontal gyrus, middle frontal gyrus, superior parietal lobule, inferior semi-lunar lobule and pyramis. On the left side, the sub-gyral, middle temporal gyrus, fusiform gyrus, supramarginal gyrus, extra-nuclear, cingulate gyrus and fastigium regions were activated by the left ST36 acupuncture stimulation. Besides, both sides of the paracentral lobule, inferior parietal lobule, culmen, cerebellar tonsil and midbrain regions were activated. Conclusions: In conclusion, brain signal activation patterns according to acupoints were observed to differ, and ST36 acupuncture stimulation activated more regions than LI11. It is supposed that LI11 and ST36 acupuncture stimulations have an influence on motor function and sensory aphasia, and these stimulations thus represent potential for ocular motor dysfunction, discriminative touch or position sense disorder. Moreover, ST36 acupuncture stimulation activated the cingulate gyrus of the limbic system, so it seems to have an influence over autonomic functions.