• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.25-28
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• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Journal of Korean Neurosurgical Society
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• 제63권6호
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• pp.806-813
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• 2020

Objective : Lumbar disc herniation (LDH) is a common disease, and lumbar discectomy (LD) is a common neurosurgical procedure. However, there is little previous data on return to work (RTW) after LD. This study investigated the period until the RTW after LD prospectively. Clinically, the pain state at the time of RTW also checked. RTW failure rate 6 months after surgery also investigated. Methods : Patients with daily/regular jobs undergoing LD between September 2014 and December 2018 were enrolled. Pain was assessed by the Oswestri Disability Index (ODI) and the Numeric Rate Scale (NRS). Employment type was divided into self-employed, regular and contracted. Monthly telephone interviews were conducted to check RTW status and self-estimated work capability after surgery. Results : Sixty-seven patients enrolled in this study. Three patients failed to RTW, and three others resigned within 6 months after surgery. The preoperative NRS and ODI were 7.2±1.2 and 22.1±7.9, respectively. The average time to RTW was 5.1±6.0 weeks. At RTW, NRS was 1.5±1.8 and ODI was 6.3±3.9. Amongst patients that successfully returned to work were 16 self-employed workers, 42 regular employees, and three contracted workers. The time to RTW of self-employed, regular, and contracted workers were 5.9±8.8, 4.2±4.3 and 13.3±2.3 weeks, respectively (p=0.011). Thirty-six of the patients that returned to work self-reported a 22.8±15.6% reduction in work capability at 6 months. Conclusion : RTW may vary depending on the employment status. In this study, we found that while employment type may affect the length to RTW, most patients were able to RTW and >40% of patients reported no loss of work capabilities 6 months postoperatively, hopefully alleviating some patient hesitation towards LD.

• 한국산학기술학회논문지
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• 제18권12호
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• pp.521-528
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• 2017

과도한 음주는 치매 및 알츠하이머 병과 같은 여러 신경계 질환을 일으키는 주요원인 중 하나로 알려져 있으며 이를 해결하기 위한 많은 노력인 진행 중이다. 또한, 홍삼은 신경 세포의 생존, 세포 자멸사의 억제 및 신경 세포의 신경 재생을 향상시키는 것으로 알려져 있다. 본 연구의 목적은 Rg3 풍부 고려홍삼 추출액(KRG)이 알코올 유발성 신경독성으로 인하여 일어나는 PC12 세포의 세포 사멸을 억제 할 수 있는지, 그리고 KRG가 caspase 매개 경로와 관련된 몇 가지 인자들을 어떻게 조절하는지 확인하는 것이다. 그 방법으로, 우리는 PC12 세포에서의 세포 생존율과 세포 사멸율은 EZ-Cytox 세포 생존율 측정 kit와 유세포 분석기로 측정하였고, 세포 자멸 관련 단백질(Bcl-2, Bax, caspase-3)의 발현 정도를 Western blot기법으로 측정하였으며, 측정된 결과의 유의성을 ANOVA 분석법으로 확인하였다. 그 결과, KRG는 Bcl-2의 발현을 증가시키고, Bid와 Bax 및 caspase-3 발현을 저해하였고, 이를 통해 알코올로 유도된 PC12 세포의 세포 사멸을 억제하였다. 이러한 결과를 통해, KRG에 의해 유도된 Bcl-2 발현의 증가와 Bid 및 Bax 발현의 하향 조절이 caspase-3 발현을 하향 조절하고, 결국 미토콘드리아 세포 사멸 경로를 억제한다는 것을 결론내릴 수 있었다. 본 연구는 향 후, KRG가 신경 보호제 후보로서 개발할 가치가 있음을 제시하였다.

• Journal of Trauma and Injury
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• 제22권2호
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• pp.123-127
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• 2009

Purpose: There is an increasing amount of evidence that S100B could function as a marker of brain damage. However, the cerebral specificity of S100B has been questioned, so the extracerebral sources of S100B have been paid attention. We performed this investigation to show serum S100B levels after extracranial fracture in patients without current head injury and without prior neurological disease. Methods: At the emergency department, we obtained the blood samples within 6 hours from trauma patients hospitalized with extracranial fractures. S100B levels were compared between one fracture and more than two fractures, and analyzed according to the presence of soft tissue damage. Results: Patients with one fracture and those with more than two fractures did not differ by age (mean, 54.70 vs. 47.03, p=0.130), and there was no significant difference in the male-to-female ratio(33:32 vs. 21:12, p=0.226). In patients with one fracture, the mean value of S-100B was $0.56{\mu}g/L$ (95% CI: 0.35-0.77) whereas in those with more than two fractures, the corresponding value was $1.09{\mu}g/L$ (95% CI: 0.46-1.7, p=0.048). The S100B level of patients with soft tissue damage($1.32{\pm}0.38$) was higher than that of patients without soft tissue damage($0.81{\pm}0.21$), whether one fracture or more than two fractures(p=0.049). Conclusion: We present here that S100B levels were raised in 77% of patients with extracranial fractures without cerebral injury who were hospitalized from the emergency room and that the presence of soft tissue damage contributed to the increased S100B rather than the size of the fractured bone size or the number of fracturest. Thus, this study suggests that soft tissue injury may be considered as an important extracerebral source of S100B.

• 대한한방내과학회지
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• 제27권4호
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• pp.905-914
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• 2006

Background and Purpose : The purpose of this study was to classify according to the TOAST classification (Trial of Org 10172 in Acute Stroke Treatment) acute stroke patients (first-ever stroke) treated at the Department of Internal Medicine of Kyungwon University In-cheon Oriental Medical Hospital. Methods : In the time period Oct. 2005 to Oct. 2006. 101 patients with a first-ever stroke admitted to the Department of Internal Medicine of Kyungwon University In-cheon Oriental Medical Hospital were included. Patients were hospitalized within 14 days after the onset of stroke. They had neurological deficits for a time more than 24 hours. We classified patients according to the original TOAST classification (Trial of Org 10172 in Acute Stroke Treatment) Results : The incidence in males was 54.4%, in females was 45.6%. Ischemic stroke (86.l%) was more common than hemorrhagic stroke (13.9%). The results of TOAST classification in this study were as follows: small-vessel occlusion, 72.4% large-artery atherosclerosis. 14.9 % cardioembolism, 4.6% stroke of other determined etiology, 4.6%: stroke of undetermined etiology, 3.5%. Patients in the small-vessel occlusion subgroup in this study were the most frequent. The result of this study is that Korean stroke registry is not in accordance with western medicine. Conclusions : The TOAST classification system is the most widely accepted tool to categorize stroke subtypes in western medicine, but in oriental medicine, it is not yet widely accepted. The authors suggest the general use of the TOAST classification to determine adequate management for stroke patients, to predict the prognosis and recurrence of stroke and to develop a Korean standard of stroke in oriental medicine.

• 대한수의학회지
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• 제47권4호
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• pp.363-370
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• 2007

Mongolian gerbil (Meriones unguiculatus) has been as an model animal for studing the neurological disease such as stroke and epilepsy because of the congenital incompleteries in Willis circle, as well as the investigation of water metabolism because of the long time-survival in the condition of water-deprived desert condition, compared with other species animal. Aquaporin 2 (AQP2) expressed at the surface of principal cells in collecting duct results from an equilibrium between the AQP2 in intracellular vesicles and the AQP2 on the plasma membrane. Aquaporin 4 (AQP4), which is expressed in cell in a wide range of organ, is also present in the collecting duct principal cells where this is abundant in the basolateral plasma membranes and represent potential exit pathways from the cell for water entering via AQP2. In this research, we divide 3 groups of which each group include the 5 animals. In the study of 7 or 14 days water restricted condition, we investigated the AQP2 and AQP4 by using a quantitative immunohistochemistry in the kidney. The results obtained in this study were summarized as followings. AQP2 is abundant in the apical plasma membrane and apical vesicles in the collecting duct principal cell and at rare abundance in connecting tubules. In the water-deprived Mongolian gerbil kidney, expression of AQP2 was continuosly increased in the cortical collecting duct and inner medullary collecting duct. This increase was both the apical region and cytoplasm. AQP4 is mainly expressed in the inner medulla, although some expression is also noted in the more proximal segment. In the water-deprived Mongolian gerbil kidney, AQP4 was also increased in the inner medullary collecting duct. Immunoactivity was increased in entire inner medullary collecting duct and newly detected in cytoplasm of principal cell. These findings suggest that increased levels of AQP2 and AQP4 in the cortical and inner medulalry collecting duct may play a important role for maintain fluid balance in the water-deprived kidney.

• 생명과학회지
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• 제30권11호
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• pp.1021-1032
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• 2020

전 세계적으로 반려동물과 반려동물 양육 인구는 증가하고 있으며 이와 관련된 사업은 고급화, 전문화되고 있다. 특히, 개는 사람과 수 천년 동안 공생하고 있으며 이들은 탄수화물 식이와 더불어 사람과 비슷한 생활 방식을 영위하고 있다. 주거와 음식을 공유하며 형성된 강력한 유대관계를 통해 사람은 반려견에 대한 책임감 및 정서적 안정을 느끼며 반려견은 사람을 의지하는 행동을 보인다. 하지만 사람과 반려견 사이에는 식이와 관련된 스트레스가 존재한다. 반려견은 본질적으로 육식성이므로, 반려견에게 영양학적으로 균형 잡힌 식이와 기능성 물질들을 제공하는 것은 그들의 건강을 위한 장내 미생물 군집 유지에 매우 중요하다고 할 수 있다. 장내미생물은 병원균과 같은 외부 유해인자로부터 반려견을 보호하고 면역계를 조절, 생리학적 항상성에도 관여하기 때문에 최근 높은 관심을 받고 있다. 비정상적인 장내미생물 군집 형성은 장질환, 대사질환, 정신질환, 신경계 질환의 병리적 과정과 증상에 영향을 미칠 뿐만 아니라 반려견의 질병은 사람에게 기회감염을 통해 영향을 미칠 수 있다. 따라서 본 논문에서 반려견의 장내미생물의 조성, 다양성뿐만 아니라 장내미생물과 질병 사이의 상관성에 대하여 논의하고자 한다.

• 한국미생물학회:학술대회논문집
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• 한국미생물학회 2000년도 International Meeting 2000
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• pp.23-36
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• 2000

Japanese encephalitis virus (JEV) is the causative agent of a mosquito-borne encephalitis and is transmitted to human via persistently infected mosquito vectors. Although the virus is known to cause only acute infection, there were reports that showed neurological sequelae, latent infection in peripheral mononuclear cells, and recurrence of the disease after acute encephalitis. Innate resistance of certain cell lines, abnormal SN1 expression of the virus, and anti-apoptotic effect of cullular bcl-2 have been suggested as probable causes of JEV persistence even in the absence of defective interfering (DI) particles. Although possible involvement of DI particles in JEV persistence was suggested, neither has a direct evidence for DI presence nor its molecular characterization been made. Two questions asked in this study are whether the DI virus plays any role in JEV persistent infection if it is associated with and what type of change(s) can be made in persistently infected cells to avoid apoptosis even with the continuous virus replication, DI-free standard stock of JEV was infected in BHK-21, Vero, and SW13 cells and serial high multiplicity passages were performed in order to generate DI particles. There different-sized DI RNA species which were defective in both structural and nonstructural protein coding genes. Rescued ORFs of the DI genome maintained in-frame and the presence of replicative intermediate or replicative form RNA of the DI particles confirmed their replication competence. On the other hand, several clones with JEV persistent infection were established from the cells survived acute infections during the passages. Timing of the DI virus generation during the passages seemed coincide to the appearance of persistently infected cells. The DI RNAs were identified in most of persistently infected cells and were observed throughout the cell maintenance. One of the cloned cell line maintained the viral persistence without DI RNA coreplication. The cells with viral persistence released the reduced but continuous infectious JEV particle for up to 9 months and were refractory to homologous virus superinfection but not to heterologous challenges. Unlike the cells with acute infection these cells were devoid of characteristic DNA fragmentation and JEV-induced apoptosis with or without homologous superinfection. Therefore, the DI RNA generated during JEV undiluted serial passage on mammalian cells was shown to be biologically active and it seemed to be responsible, at least in part, for the establishment and maintenance of the JEV persistence in mammalian cells. Viral persistence without DI RNA coreplication, as in one of the cell clones, supports that JEV persistent infection could be maintained with or without the presence of DI particles. In addition, the fact that the cells with JEV persistence were resistant against homologous virus superinfection, but not against heterologous one, suggests that different viruses have their own and independent pathway for cytopathogenesis even if viral cytopathic effect could be converged to an apoptosis after all.

• 사상체질의학회지
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• 제25권2호
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• pp.108-114
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• 2013

Objectives This study was aimed to review a standardized method of retention enema by extracting elements associated with methods of retention enema from papers involved. Methods 1) Data sources : Retrieval was made, using 'Enema' or 'Retention Enema' as search words in MEDLINE, The Cochrane Library, KISS, RISS, and NDSL DB. 2) Study selection : Two authors excluded irrelevant papers and chose qualified abstracts in the rest of the papers. The chosen studies were reviewed fully by the authors so that they could screen the significant papers based on the exclusion criteria. 3) Data extraction : Data on the total number of subjects, the target disease, the type, quality, length, diameter of catheter, the insertion length of catheter, the sample, the sample volume, the process of retention enema and the number of performing retention enema were extracted from the selected studies. Results & Conclusions The retention enema can be applied to gastrointestinal diseases, genitourinary diseases, metabolic diseases such as hypertension and diabetes, headaches and neurological disorders. The standardized treatment method is as following: 1) inserting a rental tube of 18-28 Fr that measures 20 to 30 cm into the patient's anus, 2) injecting herbal medicines which have purgative action or benefit on stomach and intestinal tract at the rate of 4 ml/min, and 3) holding them for 10 to 15 minutes.

• 디지털융복합연구
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• 제11권9호
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• pp.229-238
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• 2013

병원외 심정지는 오늘날 우리나라의 중대한 보건문제로서, 환자의 퇴원 시 생존율은 3.5%이며, 이 중 1%만이 신경학적 기능을 회복하는 것으로 나타났다. 이처럼 낮은 병원외 심정지 환자의 생존율을 높이기 위해서는 병원 도착 전 환자의 자발적 순환을 회복시키는 것이 매우 중요하다. 따라서 본 연구에서는 질병관리본부의 2009년도 심정지 의무기록 조사 자료를 활용하여 병원외 심정지 환자의 자발적 순환 회복률을 향상시킬 수 있는 요인들에 대한 심층 분석을 수행하였다. 심정지 환자의 자발적 순환 회복에 영향을 미치는 요인은 의사결정나무기법을 적용하여 분석하였으며, 그 결과 도착전 CPR여부, 병원 도착전 심정지 목격여부, 심정지시 활동, 과거력(암/심장질환/뇌졸중), 심정지 발생 장소, 병원전 일반인 CPR여부, 신고~현장 도착까지 걸린 시간, 연령 등이 중요한 요인으로 밝혀졌다. 이 요인들의 조합을 통해 의사결정나무모형으로 분류된 심정지 환자는 총 16개 유형이었으며, 그 중 유형 1의 특징을 갖는 집단의 자발적 순환 회복률(29.6%)이 가장 높게 나타났다. 더불어 비공공장소에서 심정지가 발생한 환자에게 일반인이 CPR을 시행하였을 경우, 심정지 환자의 자발적 순환 회복률이 향상된 것으로 보아 지역주민들에 대한 CPR교육이 중요함을 파악할 수 있었다.