• 제목/요약/키워드: Complex Disease

검색결과 1,307건 처리시간 0.03초

Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

  • Ko, Jung Min;Shin, Choong Ho;Yang, Sei Won;Cheong, Hae Il;Song, Junghan
    • Journal of Genetic Medicine
    • /
    • 제11권1호
    • /
    • pp.22-26
    • /
    • 2014
  • Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

온도변화에 따른 건조 스트레스 환경에서 고추 세균점무늬병 발생 영향 (Evaluation of Bacterial Spot Disease of Capsicum annuum L. in Drought Stress Environment by High Temperature)

  • 장종옥;김병혁;이중복;좌재호;고상욱
    • 식물병연구
    • /
    • 제25권2호
    • /
    • pp.62-70
    • /
    • 2019
  • The global warming by increased $CO_2$ will effect of plant pathogenic microorganisms and resistance of host plants, and it is expected to affect host-pathogen interactions. This study used Capsicum annuum L. and Xanthomonas euvesicatoria, a pathogenic bacteria of pepper, to investigate interactions between hosts and pathogens in a complex environment with increasedcultivation temperature and drought stress. As a result, the bacterial spot disease of C. annuum L. caused by X. euvesicatoria was $35^{\circ}C$ higher than $25^{\circ}C$. In addition, the effect on water potential on bacterial spot disease was much greater water potential -150 kPa than -30 kPa. The disease progress and severity higher than water potential -30 kPa. This result will useful for understanding interaction with red pepper and X. euvesicatoria under the complex environment with increased cultivation temperature and in water potential -150 kPa drought stress in the future.

알츠하이머병 환자의 MRI를 활용한 경두개 직류 전기 자극 시뮬레이션에 관한 연구 (A Simulation Study on Transcranial Direct Current Stimulation Using MRI in Alzheimer's Disease Patients)

  • 송채빈;임철기;이종승;김동현;서현
    • 대한의용생체공학회:의공학회지
    • /
    • 제44권6호
    • /
    • pp.377-383
    • /
    • 2023
  • Purpose: There is increasing attention to the application of transcranial direct current stimulation (tDCS) for enhancing cognitive functions in subjects to aging, mild cognitive impairment (MCI), and Alzheimer's disease (AD). Despite varying treatment outcomes in tDCS which depend on the amount of current reaching the brain, there is no general information on the impacts of anatomical features associated with AD on tDCS-induced electric field. Objective: The objective of this study is to examine how AD-related anatomical variation affects the tDCS-induced electric field using computational modeling. Methods: We collected 180 magnetic resonance images (MRI) of AD patients and healthy controls from a publicly available database (Alzheimer's Disease Neuroimaging Initiative; ADNI), and MRIs were divided into female-AD, male-AD, female-normal, and male-normal groups. For each group, segmented brain volumes (cerebrospinal fluid, gray matter, ventricle, rostral middle frontal (RMF), and hippocampus/amygdala complex) using MRI were measured, and tDCS-induced electric fields were simulated, targeting RMF. Results: For segmented brain volumes, significant sex differences were observed in the gray matter and RMF, and considerable disease differences were found in cerebrospinal fluid, ventricle, and hippocampus/amygdala complex. There were no differences in the tDCS-induced electric field among AD and normal groups; however, higher peak values of electric field were observed in the female group than the male group. Conclusions: Our findings demonstrated the presence of sex and disease differences in segmented brain volumes; however, this pattern differed in tDCS-induced electric field, resulting in significant sex differences only. Further studies, we will adjust the brain stimulation conditions to target the deep brain and examine the effects, because of significant differences in the ventricles and deep brain regions between AD and normal groups.

Mycobacterium kansasii에 의한 비결핵성 마이코박테리아 폐질환 3례 (A Case Report of Three Patients with Nontuberculous Mycobacterial Pulmonary Disease Caused by Mycobacterium kansasii)

  • 고원중;권오정;서지영;정만표;김호중;이남용;김태성;이경수;박은미;박영길;배길한
    • Tuberculosis and Respiratory Diseases
    • /
    • 제54권4호
    • /
    • pp.459-466
    • /
    • 2003
  • M. kansasii는 M. avium complex에 이어 NTM 폐질환의 원인균 중 두 번째로 흔하다고 외국에서는 보고되었다. M. kansasii는 M. avium complex와 마찬가지로 과거부터 잘 알려진 상엽공동형의 형태와 함께 기관지확장증에 다발성 결절이 동반된 형태가 새롭게 알려지고 있다. 다른 NTM 폐질환과 달리 M. kansasii 폐질환은 INH, RFP, EMB 등 항결핵제에 치료반응이 매우 좋기 때문에 정확한 진단과 함께 적절한 약제와 치료기간의 선택이 중요하다. 국내에서는 임상검체에서 M. kansasii가 분리되는 빈도가 매우 낮으며, 아직까지 정상면역을 가진 성인에서 M. kansasii 폐질환으로 진단된 증례가 보고되지 않았다. 저자들은 1997년 미국흉부학회의 NTM 폐질환 진단기준에 따라 M. kansasii 폐질환을 진단하고 치료한 3명의 환자를 경험하여 이를 보고하는 바이다.

30세 이상 한방의료기관 외래환자 중 비복합 및 복합만성질환자의 의료이용과 결정요인 - 2011년 한방의료이용 및 한약소비실태조사보고서(보건복지부)자료를 중심으로 - (The Use and its Affecting Factors of patients aged 30 and over with single and multiple chronic diseases and their usage outpatient Korean medicine clinics - Based on the Ministry of Health and Welfare's 2011 Report on usage of Korean medicine -)

  • 윤진원;최성용;이선동
    • 대한예방한의학회지
    • /
    • 제19권1호
    • /
    • pp.95-107
    • /
    • 2015
  • Objective : To use and its affecting factors of patients' outpatient treatment that have single and multiple chronic illnesses Method : We used the 2011 study by the Ministry of Health and Welfare, "Report on Usage and Consumption of Korean Medicine." This report was conducted on outpatients and inpatients that visited Korean traditional medicine, from August 25th, 2011, to September 30th, 2011. Our research was based on 1729 patients with chronic diseases aged 30 and over who received outpatient treatment during the last three months. Results : There were 1365 patients with non-complex chronic diseases, while there were 364 patients with complex chronis diseases. Patients had 1 - 8 chronic diseases, and the average number (standard deviation) was 1.26 (0.59). There were statistically significant differences by sex(P<0.0001), age(p=0.0045), marriage (p=0.0060), education level(p<0.0001), income level(P=0.0063), and types of health insurance(p=0.0023). The diseases most common among patients with non-complex chronic diseases were: low back pain, arthritis, gastrointestinal disorder, frozen shoulder, side effects from motor accidents, high blood pressure, fracture, stroke, diabetes, cancer, atopic dermatitis, and asthma. The diseases most common among patients with non-complex chronic diseases were: arthritis+low back pain, low back pain+gastrointestinal disorder, low back pain+side effects from motor accidents, low back pain+frozen shoulder, arthritis+gastrointestinal disease, gastrointestinal disease+frozen shoulder, arthritis+low back pain+gastrointestinal disease, high blood pressure+arthritis, arthritis+low back pain+frozen shoulder, arthritis+fracture, and arthritis+side effects from motor accidents. There were statistically significant differences among the usage of medical clinics by: frequently used clinic (p<0.0001), number of treatment (p<0.0001), the cost of outpatient treatment (p=0.0073), the satisfaction rate (p=0.0171), whether the clinic is the preferred clinic (p=0.0040). In model 1, men than women, people who had local benefits instead of type 1 medical aid, and patients with complex chronic diseases were more likely to use Korean medical clinics. In model 2, men than women, people who had local benefits than people with types 1 and 2 medical aids, people who went to pharmacies and Korean medicine pharmacies than people who went to hospitals, people who went to get treatment 1-10 times than people who visited 11-20 times and more than 41 times, and people who spent less than ten thousand Korean won than people who spent 1 to 2 million Korean won, and people without complex chronic diseases were more likely to use Korean medical treatment. Conclusion : There were differences in sociodemographic characteristics and the usage of medical clinics between patients with non-complex chronic diseases and patients with complex chronic diseases. Among patients with complex chronic diseases, women, patients with types 1 and 2 medical aid, patients who used Korean medical clinics, patients who were treated 11-20 times and more than 41 times, and patients who spent 1 million to 2 million Korean won on outpatient treatment used less treatment than patients with non-complex chronic diseases. However, patients with complex chronic diseases used pharmacies and Korean medicine pharmacies more.

Stress response as a contributing factor in horses with laminitis

  • Alexandra Moss;Britta Leise;Eileen Hackett
    • Journal of Veterinary Science
    • /
    • 제24권2호
    • /
    • pp.33.1-33.7
    • /
    • 2023
  • Background: Laminitis is a complex and debilitating disease of horses. Numerous predisposing factors contribute to laminitis development, however the exact pathogenesis remains undetermined. Serum T4, cortisol, and histamine are components of the innate stress response and could play a causative or contributory role. Stress hormone concentrations in laminitis are largely unknown. Objective: To evaluate parameters associated with stress response in horses with laminitis, and compare these to healthy horses and horses with gastrointestinal (GI) disease. Methods: Thirty-eight adult horses presenting for non-medical conditions, GI abnormalities, or clinical laminitis were prospectively enrolled. Horses were assigned to the appropriate disease group (healthy, GI disease, and laminitis) and had blood drawn on presentation to the hospital. Samples were analyzed for plasma endogenous adrenocorticotrophic hormone (eACTH), serum cortisol, serum thyroid hormone, and plasma histamine. Results: Stress hormone concentrations were significantly different between horses in the laminitis and GI disease groups. Plasma histamine levels were highest in horses with laminitis, compared with GI disease and controls. Both horses with laminitis and GI disease had increased plasma eACTH when compared to healthy horses. Horses with GI disease had higher serum cortisol concentrations than horses with laminitis or controls. Serum T4 was lower in horses with GI disease than in horses with laminitis and controls. Conclusions: Horses with laminitis had relative increases in both plasma histamine and eACTH concentrations. Serum T4 and cortisol concentrations of horses with laminitis did not differ significantly when compared to healthy horses. The role of stress hormones in equine disease warrants further investigation.

복잡 심기형을 가진 환자의 청소년기 삶 (The Life of Adolescent Patients with Complex Congenital Heart Disease)

  • 이선희;김소선
    • 대한간호학회지
    • /
    • 제40권3호
    • /
    • pp.411-422
    • /
    • 2010
  • Purpose: In the present study, an analysis of the life of adolescents with complex congenital heart disease (CHD) was done using grounded theory. Consideration was given to the socio-cultural context of Korea. Methods: After approval from the institutional review board of Y hospital, 12 patients ranging in age from 14 to 35 were recruited. Data were gathered using in-depth interviews. Theoretical sampling was performed until the concepts were saturated. Results: The results confirmed the life of adolescents with complex CHD as a 'journey to finding uniqueness of oneself as a person with CHD'. The life consisted of 3 stages. In the crisis stage, participants had a feeling of threat to self-existence, and made an effort to be the same as others. In the self-recognition stage, participants who had sufficient role-performance built self-esteem while those who did not fell into self-accusation. In the self-establishment stage, participants who reached sufficiency in independence and knowledge planned the future, whereas those who did not conformed to the realities of life. Conclusion: The results of present study provide help in understanding the experiences of adolescents with CHD and provide a basis for developing nursing intervention strategies for these patients.

BALB/c 마우스에서 생약복합제의 아토피 치료 효능 (Effects of Herbal Complex on Atopic Dermatitis in BALB/c Mice)

  • 이금선;정현미;오세군;정재훈;강태진
    • 생약학회지
    • /
    • 제43권1호
    • /
    • pp.59-65
    • /
    • 2012
  • Atopic dermatitis (AD) is a common chronic inflammatory disease of preceding the development of allergic disorders. The incidence of AD is increasing and it causes problems with administrative costs. Therefore, no side effects, easyto- use development of AD treatment is needed. The aim of this study was to evaluate whether PBMCAT, a functional extract from herbal complex was effective to treat the AD mice. AD was induced by patching ovoalbumin on the backside in BALB/ c mouse and then mice were topically treated with PBMCAT. Elidel $cream^{(R)}$ (pimecrolimus, PL) was used as a control. Scratching counts (SC) and clinical skin severity (CSS) were measured, and total serum IgE level was also measured. After inducing AD, SC and CSS were increased. The total serum IgE level was also increased in AD-induced mice. Treatment with PBMCAT significantly decreased SC, CSS, and serum IgE concentration in mice. Especially, treatment of PBMCAT 0.1% in BALB/c mice more effected than PL. These results suggest that the ointment of PBMCAT may enhance the process of AD healing by influencing phase of allergic reacting.

체정맥환류이상을 동반한 복잡심기형환자에 있어 체정맥심방 양분을 이용한 Fonatan 씨 술식 체험 -새로운 수술방법- (Bilateral Partitioning of Systemic Venous Chamber in Conjunction with Atriopulmonary Anastomoses [Fontan - Kreutzer] - A new technique -)

  • 김진국;김용진;서경필
    • Journal of Chest Surgery
    • /
    • 제21권5호
    • /
    • pp.948-953
    • /
    • 1988
  • A technique applicated for physiologic correction of complex congenital cardiac disease suitable for Fontan procedure in which drainage of left superior vena cava and hepatocardiac vein to left atrium combined is described. We made one systemic venous baffle from left hepatocardiac vein to left superior vena cava and another systemic venous baffle from right inferior vena cava to the right superior vena cava with rigid prosthetic material[0.5mm thickness PTFE patch]. And then we anastomosed directly between the right sided atrial appendage and right pulmonary artery, and left-sided atrial wall beneath the appendage and left pulmonary artery. We believe that this procedure is superior to the method using intraatrial tube graft to divert the left hepatocardiac venous blood to right atrium, and applicable for physiologic correction of any complex congenital cardiac disease suitable for Fontan-type procedure in which anomalies of systemic venous drainage combined.

  • PDF

A Novel Marker for the Species-Specific Detection and Quantitation of Shigella sonnei by Targeting a Methylase Gene

  • Cho, Min Seok;Ahn, Tae-Young;Joh, Kiseong;Kwon, Oh-Sang;Jheong, Won-Hwa;Park, Dong Suk
    • Journal of Microbiology and Biotechnology
    • /
    • 제22권8호
    • /
    • pp.1113-1117
    • /
    • 2012
  • Shigella sonnei is a causal agent of fever, nausea, stomach cramps, vomiting, and diarrheal disease. The present study describes a quantitative polymerase chain reaction (qPCR) assay for the specific detection of S. sonnei using a primer pair based on the methylase gene for the amplification of a 325 bp DNA fragment. The qPCR primer set for the accurate diagnosis of Shigella sonnei was developed from publically available genome sequences. This quantitative PCR-based method will potentially simplify and facilitate the diagnosis of this pathogen and guide disease management.