• Title/Summary/Keyword: Mental symptoms

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Two novel mutations in ALDH18A1 and SPG11 genes found by whole-exome sequencing in spastic paraplegia disease patients in Iran

  • Komachali, Sajad Rafiee;Siahpoosh, Zakieh;Salehi, Mansoor
    • Genomics & Informatics
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    • v.20 no.3
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    • pp.30.1-30.9
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    • 2022
  • Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

Preliminary Validation Study of the Korean Version of the DSM-5 Level 2 Cross-Cutting Symptom Measure: Depression and Irritability for Parents of Children Aged 6-17 Years

  • Shin, Min-Sup;Kim, Bung-Nyun;Jang, Mirae;Shin, Hanbyul;Seo, Gyujin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.33 no.3
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    • pp.67-72
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    • 2022
  • Objectives: This study investigated the reliability and validity of the Korean version of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) Level 2 Cross-Cutting Symptom Measure-Patient-Reported Outcomes Measurement Information System (PROMIS)-Depression and the Irritability for parents of children aged 6-17 years. Methods: Participants were 190 children diagnosed with depressive disorder (n=14), anxiety disorder (n=21), attention-deficit/hyperactivity disorder (ADHD; n=111), ADHD with anxious depression (n=13), and tic disorder with somatic symptoms (n=31). Patients were 8-15 years of age. The participants' mothers completed the Korean versions of the DSM-5 Level 2 Cross-Cutting Symptom Measure-PROMIS Depression and Irritability (Affective Reactivity Index, ARI), and the Korean Child Behavior Checklist (K-CBCL). Using these data, we calculated the reliability coefficient and examined the concurrent and discriminant validity of the PROMIS Depression and the Irritability (ARI) scales for assessing depression and irritability in children. Results: The reliability coefficient of the PROMIS Depression scale (Cronbach's α) was 0.93. The correlation coefficient with the K-CBCL DSM emotional problem score was 0.71. The PROMIS Depression scale significantly discriminated children with depressive disorders from those with other conditions. The reliability coefficient of the Irritability (ARI) scale was 0.91, suggesting its high reliability. Conclusion: Our results suggest that the Korean version of the DSM-5 Level 2 Cross-Cutting Symptom Measure for Depression and Irritability Scales for parents of children aged 6-17 years is reliable and valid and may be an efficient alternative to the K-CBCL.

Role of Oxytocin in Post-traumatic Stress Disorder: A Systematic Review (외상 후 스트레스 장애에 대한 옥시토신의 역할: 체계적 문헌 고찰)

  • Oh, Jaeuk;Kim, Minsu;Chu, Sang Hui
    • Journal of Korean Biological Nursing Science
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    • v.24 no.1
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    • pp.1-16
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    • 2022
  • Purpose: Recently, oxytocin has been introduced experimentally as a pharmacological treatment for post-traumatic stress disorder (PTSD). This study attempted to investigate the possibility of oxytocin as a treatment option for patients with PTSD by examining its dose, interval, and effectiveness in patients with PTSD. Methods: A systematic review was done on articles published from 1967 to 2020 using the PubMed, PsycINFO, and Cochrane databases. Our inclusion criteria were 1) subjects 18 years of age or older diagnosed with PTSD or exposed to a traumatic event that met criterion A of the Diagnostic and Statistical Manual of Mental Disorders (DSM) for PTSD, 2) oxytocin was administered at least once, 3) clinical trials, and 4) studies published in Korean or English. Two independent researchers reviewed 22 articles and recorded the contents. The risk of bias was evaluated to determine the quality of the reviewed article. Results: The parameters for evaluating the effectiveness of oxytocin were identified as socio-behavioral measures in 11 articles, neuronal imaging in 9, and biomarkers in 4. In 5 papers, oxytocin was administered multiple times. Socio-behavioral measures were improved in 3 out of 5 studies in which oxytocin was administered multiple times. In 2 studies in which prolonged exposure treatment and nasal oxytocin administration were combined for 10 weeks, patient symptoms were decreased compared to the control group. Conclusion: The possibility of oxytocin as an adjuvant treatment for PTSD psychotherapy was confirmed. Further studies are necessary to evaluate the long term effectiveness of administering oxytocin multiple times combined with psychotherapy.

A Case Report of Korean Medicine Treatment for a Post-traumatic Hydrocephalus Patient Complaining of Gait Disturbance and Dementia (보행장애와 치매를 주소로 하는 외상 후 수두증 환자의 한의 복합치료 1례)

  • Sol Jeong;Hyo-won Jin;Ji-hyun Hwang;Jeong-rim Bak;Hye-soo Jeon;Byung-soon Moon;Jong-min Yun
    • The Journal of Internal Korean Medicine
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    • v.44 no.1
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    • pp.77-85
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    • 2023
  • Objective: This clinical study describes the effect of Korean medicine on a post-traumatic hydrocephalus patient complaining of gait disturbance and dementia. Case presentation: A post-traumatic hydrocephalus patient complaining of gait disturbance and dementia was treated with herbal medicine, acupuncture, moxibustion, and cupping. Clinical symptoms were measured with the Korean Mini Mental Status Exam (K-MMSE), Functional Independence Measure (FIM), and Modified Barthel Index (MBI). After treatment, the patient showed improved K-MMSE, FIM, and MBI scores. Conclusion: This clinical case study provides evidence of the effect of Korean medicine on a post-traumatic hydrocephalus patient complaining of gait disturbance and dementia.

Assessment of Risk Factors for Postoperative Delirium in Older Adults Who Underwent Spinal Surgery and Identifying Associated Biomarkers Using Exosomal Protein

  • Baek, Wonhee;Lee, JuHee;Jang, Yeonsoo;Kim, Jeongmin;Shin, Dong Ah;Park, Hyunki;Koo, Bon-Nyeo;Lee, Hyangkyu
    • Journal of Korean Academy of Nursing
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    • v.53 no.4
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    • pp.371-384
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    • 2023
  • Purpose: With an increase in the aging population, the number of patients with degenerative spinal diseases undergoing surgery has risen, as has the incidence of postoperative delirium. This study aimed to investigate the risk factors affecting postoperative delirium in older adults who had undergone spine surgery and to identify the associated biomarkers. Methods: This study is a prospective study. Data of 100 patients aged ≥ 70 years who underwent spinal surgery were analyzed. Demographic data, medical history, clinical characteristics, cognitive function, depression symptoms, functional status, frailty, and nutritional status were investigated to identify the risk factors for delirium. The Confusion Assessment Method, Delirium Rating Scale-R-98, and Nursing Delirium Scale were also used for diagnosing delirium. To discover the biomarkers, urine extracellular vesicles (EVs) were analyzed for tau, ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), neurofilament light, and glial fibrillary acidic protein using digital immunoassay technology. Results: Nine patients were excluded, and data obtained from the remaining 91 were analyzed. Among them, 18 (19.8%) developed delirium. Differences were observed between participants with and without delirium in the contexts of a history of mental disorder and use of benzodiazepines (p = .005 and p = .026, respectively). Tau and UCH-L1-concentrations of urine EVs-were comparatively higher in participants with severe delirium than that in participants without delirium (p = .002 and p = .001, respectively). Conclusion: These findings can assist clinicians in accurately identifying the risk factors before surgery, classifying high-risk patients, and predicting and detecting delirium in older patients. Moreover, urine EV analysis revealed that postoperative delirium following spinal surgery is most likely associated with brain damage.

Observational Clinical Study on Mibyeong Based on Korean Medicine Diagnosis, Questionnaire, and Radial Artery Tonometry (한의사의 진단, 설문지, 맥진을 이용한 미병 관리에 관한 관찰적 임상연구)

  • Heeyoung Moon;Minsoo Kim;Su Hyun Lim;Younbyoung Chae;In-Seon Lee
    • Korean Journal of Acupuncture
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    • v.40 no.2
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    • pp.44-53
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    • 2023
  • Objectives : This study was conducted to reveal the relationship between multiple factors of traditional Korean Medicine diagnosis and consider the further probabilities of treating people with physical and mental problems not defined as diseases, which is called 'Mibyeong' in traditional Korean Medicine. Methods : 40 healthy participants were included in the observational clinical trial. The participants were asked to complete health questionnaires (e.g. State-Trait Anxiety Inventory, Pittsburgh Sleep Quality Index, Stress Response Inventory) and they went through a traditional diagnosis process, including four stages of diagnosis (looking, listening/smelling, inquiring, and pulse taking), by a Korean Medicine doctor. Both the Korean Medicine doctor and an artery tonometry device performed the pulse diagnosis. Results : Although all participants were healthy people with no history of disease, more than half of participants had a problem related with severe level of fatigue (n=19), sleep disturbance (n=26) and stress (n=27) status according to the related questionnaires. Participants diagnosed with phlegm syndrome by the Korean Medicine doctor showed significantly greater score in phlegm pattern questionnaires than participants who were not. However, there was little agreement between the doctor's pulse diagnosis and radial artery tonometry results. Conclusions : We conducted a pulse diagnosis and measured health-related information along with the traditional Korean Medicine diagnose procedure, including four stages of diagnosis, and we found a linkage between diagnosis of phlegm and the phlegm pattern questionnaire score. The results suggest that a number of healthy participants, with no disease diagnosed, have Mibyoung symptoms which need further clinical management. Thus, we suggest that Mibyoung management programs based on qualified diagnosis tools and traditional Korean medicine diagnosis procedures be developed, and that future research using various diagnostic tools be carried out on a large population.

Yearly Report on CVA Patients (뇌졸중 환자에 대한 연례보고(2004년))

  • Park, Jung-sup;Jung, Seung-min;Lee, Si-hyung;Jung, Ki-yong;Yeo, Hyun-soo;Hsia, Yu-chun;Choi, You-kyung;Jun, Chan-yong;Kim, Dong-woo;Park, Chong-hyeong
    • The Journal of the Society of Stroke on Korean Medicine
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    • v.7 no.1
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    • pp.23-33
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    • 2006
  • Objectives : This study was prepared for investigating the clinical features of stroke patients. Methods : We retrospectively reviewed the medical records of 102 patients who were admitted to Department of Internal Medicine, College of Oriental Medicine, Kyung-Won University with a diagnosis of stroke from Jan. 1, 2004 to Dec. 31, 2004. Results : Ischemic stroke(include TIA, 82.4%) was more common than hemorrhagic stroke(17.6%). The incidence in male was 41.2%, in female was 17.6% and the most prevalent age group is over-sixties. Cerebral infarction was most frequently noticed in lacunar-infarction and hemorrhage in putamen. Hypertention, the most preceding diseases, followed by diabetes mellitus and CVA. The rate of recurrence was 27.45%. Cerebral infarction and cerebral hemorrhage was much occurred after rising. The most patients visited the hospital within 24 Hours. The most common symptoms in admission time were motor weakness and speech disorder. The complication was mostly mental disorder. Conclusion : Our study on CVA patients was similar to previous studies from 1994 to 2003. In most cases, western and oriental treatment and medicine were given synthetically.

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Comparison of the characteristics of patient who cancel after presentation to an emergency department by 119 ambulance (119 구급차를 통해 응급의료센터에 내원한 접수취소 환자들의 특성 비교)

  • Yong-Joon Kim;Kyoung-Youl Lee
    • The Korean Journal of Emergency Medical Services
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    • v.27 no.3
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    • pp.47-58
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    • 2023
  • Purpose: The purpose of this study was to analyze the characteristics of patients who canceled their ED visits and to determine the factors that influence ED cancellation. Methods: Retrospective study that analyzed data from the electronic medical records(EMR) and Prehospital Care Reports(PCRs) of 305 patients who cancelled their appointments at a single emergency medical center over a six-month period from October 12, 2022, to April 12, 2023. Results: ED cancellations were 2.287 times higher if the patient presented to the ambulance after outpatient hours(09:00~17:00) (p=.007), and ED cancellations were 3.712 times higher if the patient presented to the ambulance under the influence of alcohol(p=.011). For patients' symptoms, medical diseases were associated with a 1.965 times increase in cancelled ED visits compared to other modes of transport (p=.005), while mental and chronic diseases were associated with a 67.3% decrease in cancelled ED visits compared to other modes of transport (OR=0.327, CI=[0.130-0.822], p=.018). symptomatic improvement was associated with a 2.482 times increase in presentations to a 119 ambulance compared to delayed waiting time(p=.022). Conclusion: Emergency medical centers should consider improving the legal system, such as increasing emergency medical care fees, to reduce the number of patients who cancel their appointments.

A Case Report of a Patient with Vascular Dementia Caused by Intracerebral Hemorrhage Treated with Modified Guibi-tang (뇌내출혈 이후 발생한 혈관성 치매 환자에 대한 귀비탕가미방 치험 1례)

  • Hye-soo Youn;Eun-chang Lee;Jung-min Son;Sun-woo Kwon;Choong-hyun Park;Yi-jae Kwon;Hyo-jeong Lee;Jung-eun Lee
    • The Journal of Internal Korean Medicine
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    • v.44 no.5
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    • pp.1033-1040
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    • 2023
  • Objectives: The aim of this study is to describe the effects of traditional Korean medicine treatment on a patient with vascular dementia caused by an intracerebral hemorrhage. Methods: The patient was treated with herbal medicine (modified Guibi-tang) and acupuncture. The effects of these treatments were evaluated using the Korean Mini Mental Status Examination (K-MMSE-2), Cognitive Dementia Rating (CDR), Manual Muscle Test (MMT), Korean version of Modified Barthel Index (K-MBI), and Videofluoroscopic Swallow Study (VFSS). Results: After treatment, the K-MMSE-2 score, CDR score, MMT, K-MBI, and VFSS improved. Conclusion: The results suggest that traditional Korean medicine may be effective for the symptoms of vascular dementia caused by intracerebral hemorrhage.

A Case Report of Post-Stroke Delirium Patient Using Complex Korean Medicine Treatment Including Scalp Electroacupuncture (뇌졸중 후 섬망의 두부 침전기자극술을 포함한 한의복합치료에 대한 증례 보고 1례)

  • Jong-Min Kim;Hyonjun Chun;Ju Yeon Cho;Seung Woo Song;Ga Hyun Lee;Se Jin Park
    • Journal of Oriental Neuropsychiatry
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    • v.34 no.4
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    • pp.433-444
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    • 2023
  • Objectives: This case study aimed to provide evidence of the combined use of Korean Medicine treatments, including electroacupuncture (EA) on scalp acupoints, as a useful intervention for post-stroke delirium. Methods: The patient in this study was diagnosed with Cerebral Infarction in Right Corpus Callosum and post-stroke delirium. The patient received eight sessions of EA on scalp acupoints, rehabilitation medicine treatment, and other Korean Medicine treatments such as acupuncture and herbal medicine. Evaluation of treatment effectiveness was done mainly through the Memorial Delirium Assessment Scale Korean (MDAS-K) and Mini-Mental State Examination Korean (MMSE-K). Results: MDAS-K score dropped from 20 to 9 and MMSE-K score increased from 15 to 21 during hospitalization, showing improvement in symptoms. Conclusions: Combined use of Korean medicine treatments including EA on scalp acupoints may be an effective treatment for post-stroke delirium.