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The Relationship Between the Quality of Learning and Educational Experiences of Medical Students During 2018-19 2018-19学年医学生学习质量与教育体验的关系
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.49128.1322
S. Sadrzadeh, S. Mousavi, F. Taghizadeh, B. Kakhki, M. Akbarilakeh, Eelnaz Vafadar Moradi
Introduction: The effectiveness of the educational system along with the research development in each country is considered as one of the criteria of development measurement. Methods: This study is a descriptive - cross-sectional study during 2018-2019. The statistical population includes all medical students who have passed the physiopathology degree in the second semester and data collection is done by field method. The instrument of consists of two parts. The first part contains demographic information of the participants and the second part presents standard questionnaire of educational experience include  Course Experience Questionnaire (CEQ) and Neumann's Quality of Learning Experience. The data were analyzed using mean and standard deviation, Pearson correlation coefficient, independent T-test and ANOVA were used. Result: In this research, 45.7% were male) n=49), 54.20% female (n=58), 14% married (n=15), 86% single (n=92), 8.41% Have a work (n=9), 91.58% dont have a work (n=98), and finally 55.1% were interested in their field. There was a significant positive correlation between the scores of appropriate teaching (P-value <0.001), clear goals (P-value <0.001), appropriate evaluation (P-value <0.001), independence (P-value<0.001), and general skill (P-value<0.001), with experiences of courses. The strongest correlation with the quality of educational experiences was the appropriate evaluation (0.65). Conclusion: The results of this study indicate that in order to achieve the most important goal of medical education, more efforts are needed to improve educational quality.
导读:每个国家的教育体系与研究发展的有效性被认为是衡量发展的标准之一。方法:本研究为描述性横断面研究,研究时间为2018-2019年。统计人群包括所有在第二学期通过生理病理学学位的医学生,数据采集采用现场法。乐器由两部分组成。第一部分是参与者的人口统计信息,第二部分是教育体验的标准问卷,包括课程体验问卷(CEQ)和诺伊曼学习体验质量。数据分析采用均数和标准差,Pearson相关系数、独立t检验和方差分析。结果:本研究中,45.7%为男性(n= 49), 54.20%为女性(n=58), 14%为已婚(n=15), 86%为单身(n=92), 8.41%有工作(n=9), 91.58%没有工作(n=98), 55.1%对自己的专业感兴趣。适当教学(p值<0.001)、明确目标(p值<0.001)、适当评价(p值<0.001)、独立性(p值<0.001)、一般技能(p值<0.001)得分与课程体验呈显著正相关。与教育体验质量相关性最强的是适当评价(0.65)。结论:本研究结果表明,要实现医学教育最重要的目标,需要进一步努力提高教育质量。
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引用次数: 0
Tuberculosis for Alzheimer’s: Risk Factor, Treatment or Prevention 结核病对阿尔茨海默病:危险因素,治疗或预防
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.46969.1310
A. Yaghoubi, K. Ghazvini, S. Hashemy
Alzheimer's disease is a type of dementia and there were 50 million individuals have dementia in 2018 worldwide and the cost of dementia care to Medicare and Medicaid is so high (about US$1 trillion) in that year. Recently, several articles show that tuberculosis may be increased the development rate of Alzheimer's disease in these patients. So knowing the probable relationship between these two could be helpful. Also, there is evidence demonstrating that the Bacillus Calmette–Guerin (BCG) vaccine and rifampicin as a conventional vaccine and medicine against Mycobacterium tuberculosis infections could be used as a promising agent for the prevention and reduce the development of Alzheimer’s disease and other neurodegenerative diseases. According to our knowledge, the present review is the first and only review that assessed the possible relationship between tuberculosis and Alzheimer's disease as well as the possible therapeutic role of rifampicin and BCG vaccine in treatment and prevention of Alzheimer's disease, respectively.
阿尔茨海默病是一种痴呆症,2018年全球有5000万人患有痴呆症,当年医疗保险和医疗补助的痴呆症护理费用非常高(约1万亿美元)。最近,几篇文章表明,结核病可能会增加这些患者阿尔茨海默病的发展速度。因此,了解这两者之间的可能关系可能会有所帮助。此外,有证据表明,卡介苗和利福平作为抗结核分枝杆菌感染的常规疫苗和药物,可以作为预防和减少阿尔茨海默病和其他神经退行性疾病发展的有希望的药物。据我们所知,本综述是第一篇也是唯一一篇评估结核病与阿尔茨海默病之间可能的关系以及利福平和卡介苗分别在治疗和预防阿尔茨海默病方面可能发挥的治疗作用的综述。
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引用次数: 0
Association of HLA-DRB1 with Recurrent Aphthous Stomatitis in Northeast Iranian Population HLA-DRB1与伊朗东北部人群复发性口疮的相关性
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.50604.1330
N. Mohtasham, Hooshang Rafat-Panah, A. Pakfetrat, Reza Zare, H. Kade, M. H. Shad, M. Zamanzadeh, F. Mohajertehran
Introduction:Recurrent aphthous ulcers are the most common pathologic conditions of the oral cavity, which despite having clear clinical features, the etiology is unknown. This study aimed to determine the relationship between one of the histocompatibility antigens (HLA DRB1) and its sub-groups with the incidence of recurrent aphthous ulcers in an Iranian population (North East of Iran). Methods: In this case-control study, a total of 72 patients with recurrent aphthous ulcers and 70 healthy subjects in Northeast Iranian population were included. Genotyping was done by polymerase chain reaction-specific sequence primers (PCR- SSP) for each sample, according to standard kit protocol (BAG- Germany). Results: In 72 patients with recurrent aphthous ulcers that were included in this study, 26 were male and 46 were female; of the 70 control patients, this difference not significant statistically (P>0.05). The frequency of HLA -DRB1 *16 was 0.7% in the healthy subjects, however frequency of HLA -DRB1 *16 in patients with recurrent aphthous stomatitis (RAS) was 42.36%, and this difference was statistically significant (P=0.03). But, this difference was not observed in other subgroups.Conclusion: The frequency of DRB1 * 16 in the patients with RAS were higher than the group. Therefore, DRB1 * 16 can be suggested as a Predisposing factor for aphthous ulcers patients.
简介:复发性口腔溃疡是口腔最常见的病理状况,尽管具有明确的临床特征,但病因尚不清楚。本研究旨在确定一种组织相容性抗原(HLA DRB1)及其亚群与伊朗人群(伊朗东北部)复发性阿弗特溃疡发病率之间的关系。方法:选取伊朗东北部地区复发性阿弗顿溃疡患者72例,健康对照70例。根据标准试剂盒方案(BAG- Germany),采用聚合酶链反应特异性序列引物(PCR- SSP)对每个样品进行基因分型。结果:72例复发性阿弗顿溃疡患者中,男性26例,女性46例;对照组70例,差异无统计学意义(P < 0.05)。健康人HLA -DRB1 *16阳性率为0.7%,复发性口腔炎(RAS)患者HLA -DRB1 *16阳性率为42.36%,差异有统计学意义(P=0.03)。但是,在其他亚组中没有观察到这种差异。结论:RAS患者DRB1 * 16频率高于对照组。因此,DRB1 * 16可能是阿弗顿溃疡患者的易感因素。
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引用次数: 0
Assessment of the Pupil Size in Emmetropic and Myopic Eyes 近视眼和近视眼瞳孔大小的评估
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.50392.1328
N. Yazdani, N. Sharif, Maliheh Karimpour, Asieh Ehsaei
Introduction: This study aimed to determine the influence of age and gender on pupil size under different illuminance conditions in emmetropic and myopic healthy eyes using Keratograph 4 topography. Methods: This study investigated 221 eyes of 221 subjects. After complete ocular examination, the undilated pupil diameters were measured using a pupilometer and Keratograph 4 software (OCULUS, Wetzlar, Germany) with a sequence of 9.8 seconds of the scotopic stimulus (0.1 lux) and 0.2 seconds of the photopic stimulus (150 lux) repeated 5 times automatically. At the end of the procedure, the software provided maximum and minimum values (scotopic and photopic) of the pupil diameter. The age, gender, and refraction related changes of the pupil size were evaluated in different illuminance conditions. Results: Out of 221 participants in this study, 122 (85 female) and 99 (66 female) cases were myopes (MSE: -2.18±1.69 D, age: 26.03±6.98 years) and emmetropes (MSE: -0.11±0.27 D, age: 28.05±10.17 years), respectively. Considering refractive groups, pupil size was larger in myopes, compared to the emmetropes in both illuminance conditions (P<0.001). Moreover, the pupil size was found to be independent of gender in both photopic and scotopic conditions (P=0.71 and P=0.55, respectively). Additionally, a significant decrease was observed in pupil size with increasing age (P<0.001). Conclusion: This study showed that pupil size is influenced by age, illumination levels, and refractive status. These findings are important in both the optical industry and clinical decision-making process regarding treatment management.
引言:本研究旨在使用Keratograph 4地形图确定年龄和性别对正视眼和近视健康眼在不同照度条件下瞳孔大小的影响。方法:本研究调查了221名受试者的221只眼睛。在完全的眼部检查后,使用瞳孔计和Keratograph 4软件(OCULUS,Wetzlar,Germany)测量未相关的瞳孔直径,其中9.8秒的暗刺激(0.1勒克斯)和0.2秒的明刺激(150勒克斯)的序列自动重复5次。在手术结束时,软件提供瞳孔直径的最大值和最小值(暗光和明光)。在不同的照度条件下评估年龄、性别和屈光相关的瞳孔大小变化。结果:在本研究的221名参与者中,122例(85名女性)和99例(66名女性)分别为近视(MSE:-2.18±1.69 D,年龄:26.03±6.98岁)和正视型(MSE:-0.11±0.27 D,年龄28.05±10.17岁)。考虑到屈光组,在两种照度条件下,与正视眼相比,近视眼的瞳孔大小更大(P<0.001)。此外,在明视和暗视条件下,瞳孔大小与性别无关(分别为P=0.71和P=0.55)。此外,随着年龄的增长,瞳孔大小显著减小(P<0.001)。结论:本研究表明,瞳孔大小受年龄、光照水平和屈光状态的影响。这些发现在光学行业和治疗管理的临床决策过程中都很重要。
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引用次数: 2
Gastrointestinal Manifestations of COVID- 19 COVID-19的胃肠道表现
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.52084.1337
M. Ahadi, Negin Masoudifar, M. A. Rad
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has brought unpredictable challenges to the whole world by causing Coronavirus disease2019(COVID-19). Although respiratory tract manifestations are the most commonly reported symptoms in COVID-19, early studies reported a low incidence of typical gastrointestinal (GI) symptoms, such as diarrhea, nausea, vomiting, and even liver dysfunctions. However, The prevalence and prognosis of Gastrointestinal system involvement, including gastrointestinal symptoms and liver injury, remains mostly unknown in patients with COVID-19. We aimed to review the effects of COVID-19 on the GI system. Anorexia was the most frequent digestive symptom in adults (39.9%‐50.2%), and diarrhea was the most frequent symptom in both adults and children.Moreover, vomiting was more common in children. Approximately nine percent of adult patients showed vomiting. Almost 36% of children encounter vomiting; nausea is considered for 15% of children. Gastrointestinal bleeding was presented in more than ten percent of children, while abdominal pain was more frequent in severely ill patients.
严重急性呼吸综合征冠状病毒2(SARS-CoV-2)导致2019冠状病毒病(新冠肺炎),给整个世界带来了不可预测的挑战。尽管呼吸道表现是新冠肺炎最常见的症状,但早期研究报告称,典型的胃肠道(GI)症状发生率较低,如腹泻、恶心、呕吐,甚至肝脏功能障碍。然而,在新冠肺炎患者中,胃肠道系统受累(包括胃肠道症状和肝损伤)的患病率和预后大多未知。我们旨在回顾新冠肺炎对胃肠道系统的影响。厌食症是成人最常见的消化系统症状(39.9%-50.2%),腹泻是成人和儿童最常见的症状。此外,呕吐在儿童中更为常见。大约9%的成年患者出现呕吐。近36%的儿童出现呕吐;15%的儿童认为恶心。超过10%的儿童出现胃肠道出血,而重症患者腹痛更为常见。
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引用次数: 0
IL-33/ST2 Axis as a Well-Known Endogenous Defense Against Tuberculosis IL-33/ST2轴作为众所周知的抗结核内源性防御
Pub Date : 2020-09-01 DOI: 10.22038/RCM.2020.52536.1338
M. Karbalaei, K. Ghazvini, M. Keikha
infection is caused by an intracellular bacterium, Mycobacterium tuberculosis (Mtb). The disease is among the most important infectious diseases, which has dedicated most cases of morbidity and mortality to itself worldwide. The global report of Health Organization in shows that from 10.7 million infected people in 2018, 1.6 million died. Although the BCG vaccine has been used for about a hundred years, it is only effective in children, but is not able to produce a protective and reliable immunity against adult pulmonary TB. Hence, using an alternative vaccine with high more efficacy than BCG seems to be urgent. The IL-33/ST2 axis forms of IL-33 and ST2, and both of them are the members of IL-1 family. IL-33 is secreted as an alarm in response to cellular stress, and ST2 causes stimulation of MyD88/NF-κB signaling pathway, which is needed for the proper response of infected cells to Mtb and other intracellular pathogens. In Th2 cells, NF-κB enters into the nucleus, and acts as a transcription factor. Finally, cytokines such as effective in the
感染是由一种细胞内细菌结核分枝杆菌引起的。该疾病是最重要的传染病之一,在世界范围内,其发病率和死亡率最高。卫生组织年的全球报告显示,从2018年的1070万感染者中,有160万人死亡。尽管BCG疫苗已经使用了大约一百年,但它只对儿童有效,但无法对成人肺结核产生保护性和可靠的免疫力。因此,使用比BCG更高效的替代疫苗似乎是当务之急。IL-33/ST2轴形成IL-33和ST2,它们都是IL-1家族的成员。IL-33被分泌作为对细胞应激的警报,ST2引起MyD88/NF-κB信号通路的刺激,这是感染细胞对Mtb和其他细胞内病原体的适当反应所必需的。在Th2细胞中,NF-κB进入细胞核,并作为转录因子发挥作用。最后,细胞因子如
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引用次数: 0
Febrile children with or without seizure: a Comparison between CBC, ESR and CRP 伴有或不伴有惊厥的发热儿童:CBC、ESR和CRP的比较
Pub Date : 2020-08-27 DOI: 10.22038/RCM.2020.48840.1319
Elhan Bakhtiari, F. Heydarian, M. Kiani, Z. Askari, Mohammad Heidarian
Objective: The aim of present study was evaluation and comparison of the white blood cell, erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) in febrile children with or without convulsion. Methods: Three hundred sixty eight febrile children aged 6-60 months with or without convulsion were studied. Demographic, white blood cell (WBC), ESR and CRP were compared and analyzed. Results: There was 368 children (184 patients with febrile convulsion as case group and 184 febrile patients without convulsion as control group), with the average age of 26.6±14.4 months and 17.71±15.4 months respectively (p=0.001). In case group 59.78% and in control group 43.48% were male (p=0.002). There was no significant difference between groups regarding WBC, ESR and CRP. There was significant relationship between leukocytosis and convulsion in patients with longer than 15 minutes convulsion (p=0.03). There was not any significant relationship between febrile convulsion patients according to type, duration and frequency of convulsion in ESR and CRP. Conclusion: Leukocytosis and elevated ESR and CRP in patients with febrile convulsion can represent underlying etiology of the fever and it may not be due to convulsion itself. But in longer than 15 minutes convulsion, it can lead to leukocytosis itself.
目的:评价和比较发热伴惊厥和不伴惊厥患儿白细胞、红细胞沉降率(ESR)和C反应蛋白(CRP)的变化。方法:对368例6 ~ 60月龄发热伴或不伴惊厥患儿进行研究。统计学、白细胞(WBC)、ESR、CRP进行比较分析。结果:患儿368例(病例组有热惊厥184例,对照组无热惊厥184例),平均年龄分别为26.6±14.4个月和17.71±15.4个月(p=0.001)。病例组男性占59.78%,对照组男性占43.48% (p=0.002)。WBC、ESR、CRP组间比较差异无统计学意义。惊厥时间大于15分钟的患者白细胞增多与惊厥有显著相关性(p=0.03)。热惊厥类型、惊厥持续时间、惊厥频次在ESR和CRP指标上无显著相关性。结论:热性惊厥患者白细胞增多、ESR和CRP升高可能是发热的潜在病因,而不是惊厥本身引起的。但抽搐超过15分钟,就会导致白细胞增多。
{"title":"Febrile children with or without seizure: a Comparison between CBC, ESR and CRP","authors":"Elhan Bakhtiari, F. Heydarian, M. Kiani, Z. Askari, Mohammad Heidarian","doi":"10.22038/RCM.2020.48840.1319","DOIUrl":"https://doi.org/10.22038/RCM.2020.48840.1319","url":null,"abstract":"Objective: The aim of present study was evaluation and comparison of the white blood cell, erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) in febrile children with or without convulsion. Methods: Three hundred sixty eight febrile children aged 6-60 months with or without convulsion were studied. Demographic, white blood cell (WBC), ESR and CRP were compared and analyzed. Results: There was 368 children (184 patients with febrile convulsion as case group and 184 febrile patients without convulsion as control group), with the average age of 26.6±14.4 months and 17.71±15.4 months respectively (p=0.001). In case group 59.78% and in control group 43.48% were male (p=0.002). There was no significant difference between groups regarding WBC, ESR and CRP. There was significant relationship between leukocytosis and convulsion in patients with longer than 15 minutes convulsion (p=0.03). There was not any significant relationship between febrile convulsion patients according to type, duration and frequency of convulsion in ESR and CRP. Conclusion: Leukocytosis and elevated ESR and CRP in patients with febrile convulsion can represent underlying etiology of the fever and it may not be due to convulsion itself. But in longer than 15 minutes convulsion, it can lead to leukocytosis itself.","PeriodicalId":21081,"journal":{"name":"Reviews in Clinical Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41522203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Evaluation of cyclooxygenase -2 gene expression in benign and malignant ascites. 环氧化酶-2基因在良恶性腹水中表达的评价。
Pub Date : 2020-07-30 DOI: 10.22038/RCM.2020.49489.1324
Mohamadreza Farzanehfar, R. Jabini, A. Mirbolouk
Intruduction: This study aims to evaluate the mRNA expression of cyclooxygenase-2 (Cox-2) in ascites caused by various diseases and its usefulness in differential diagnosis between malignant and benign ascites. Methods: A total of 52 ascitic fluid samples collected from cirrhotic patients in Ghaem Hospital of Mashhad University of Medical Sciences and divided into two experimental groups: benign ascites group (n=26) and malignant ascites group (n=26). Reverse transcriptase polymerase chain reaction (RT- PCR) was used for determining the presence of Cox-2 mRNA in samples. Results: There was a mail predominance (1.88 to 1) and the mean age of patients was 56.94±12.04 years (range 30 to 80 years). There was no significant difference between the two groups with respect to age and sex. Cox-2 mRNA was detected in 4 of 26 benign ascites (15.4%) and 15 of 26 malignant ascites (57.7%) (P= 0.003). The sensitivity, specificity, positive and negative predictive values of Cox2 for differentiating malignant from benign ascites were 57.7%, 84.6%, 78.9% and 66.7%, respectively. Conclusion: Cox2 mRNA expression assessed by RT-PCR could be a useful method in the differential diagnosis and screening of malignant ascites.
前言:本研究旨在探讨环氧化酶-2 (Cox-2) mRNA在各种疾病引起的腹水中的表达及其在良恶性腹水鉴别诊断中的价值。方法:选取马什哈德医科大学附属Ghaem医院肝硬化患者腹水标本52例,分为良性腹水组(n=26)和恶性腹水组(n=26)。逆转录聚合酶链反应(RT- PCR)检测样品中Cox-2 mRNA的存在。结果:患者的平均年龄为56.94±12.04岁(30 ~ 80岁),以1.88∶1的比例占绝对优势。两组在年龄和性别方面没有显著差异。26例良性腹水中有4例(15.4%)检测到Cox-2 mRNA, 26例恶性腹水中有15例(57.7%)检测到Cox-2 mRNA (P= 0.003)。Cox2鉴别腹水良恶性的敏感性、特异性、阳性预测值和阴性预测值分别为57.7%、84.6%、78.9%和66.7%。结论:RT-PCR检测Cox2 mRNA表达可作为鉴别诊断和筛查恶性腹水的有效方法。
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引用次数: 0
Autosomal Recessive Agammaglobulinemia with Juvenile Idiopathic Arthritis: A Case Report 常染色体隐性无球蛋白血症伴幼年特发性关节炎1例报告
Pub Date : 2020-07-29 DOI: 10.22038/RCM.2020.43271.1289
A. Z. Feizabadi, A. Malek, H. Ahanchian
The B lymphocyte developmental blocks in agammaglobulinemia leads to peripheral B cells depletion and plasma immunoglobulins reduction. It is a rare but serious disease since it presents recurrent sinopulmonary, skin, central nervous system, bone, and joint infections; the onset of which is reported 6 months of age. There is also a connection between arthritis and immunodeficiency disorders, such as agammaglobulinemia and common variable immunodeficiency (CVID). We reported the case of a 3.5-year-old girl with a 3-month history of swelling of the left knee following mimicking oligoarticular juvenile idiopathic arthritis. After the initiation of immunosuppressive treatment, she developed large tender erythematous lesions on inguinal region bilaterally, developing to ecthyma gangrenosum, which resulted from Pseudomonas. Her mother also reported the recurrent episodes of infections since she was a one-year-old infant. Subsequent to immunological exams and laboratory tests, she was diagnosed with autosomal recessive agammaglobulinemia due to low serum immunoglobulin concentration and the absence of peripheral B cells. Primary immunodeficiency conditions, particularly agammaglobulinemia, and CVID should be considered in children with arthritis and recurrent infections. Moreover, the immunological analysis should be performed before the initiation of any treatment for these children.
无丙种球蛋白血症中的B淋巴细胞发育障碍导致外周B细胞耗竭和血浆免疫球蛋白减少。这是一种罕见但严重的疾病,因为它表现为反复发作的窦房结、皮肤、中枢神经系统、骨骼和关节感染;据报道其发病年龄为6个月。关节炎和免疫缺陷疾病之间也有联系,如无丙种球蛋白血症和常见可变免疫缺陷(CVID)。我们报告了一个3.5岁女孩的病例,她有3个月的左膝肿胀史,模仿少关节幼年特发性关节炎。在开始免疫抑制治疗后,她在双侧腹股沟区出现了巨大的压痛性红斑病变,发展为由假单胞菌引起的坏疽性处女膜。她的母亲还报告说,从她一岁大的婴儿开始,感染就反复发作。经过免疫学检查和实验室测试,由于血清免疫球蛋白浓度低和缺乏外周B细胞,她被诊断为常染色体隐性无丙种球蛋白血症。患有关节炎和复发性感染的儿童应考虑原发性免疫缺陷,特别是无丙种球蛋白血症和CVID。此外,在开始对这些儿童进行任何治疗之前,应进行免疫分析。
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引用次数: 0
Presentation of Kleefstra syndrome; case report Kleefstra综合征的表现;病例报告
Pub Date : 2020-06-01 DOI: 10.22038/RCM.2020.51433.1334
J. Akhondian, N. Ghasemi
Kleefstra syndrome is a genetic disorder that may involve different parts of the body, but its main characteristics are intellectual disability and childhood hypotonia. We report a 10-year-old mentally retarded male patient who presented with seizure. His medical history revealed recurrent upper respiratory infections, neurodevelopmental delay, and epilepsy. It was also found that he had had a hospitalization in the neonatal intensive care unit for five days due to tachypnea, low APGAR score, and meconium aspiration syndrome. His brain MRI had shown some degree of distension of the lateral cerebral ventricles with the basal cistern. The electromyography and the nerve conduction velocity were however normal. He was diagnosed with Kleefstra syndrome by the loss of the EHMT1 gene. He is now under treatment by piracetam and work-therapy. This is the second case report of this syndrome in Iran. This case presentation aims to improve the diagnosis of Kleefstra syndrome patients, as a rare syndrome with non-characteristic manifestations.
Kleefstra综合征是一种遗传性疾病,可能涉及身体的不同部位,但其主要特征是智力残疾和儿童肌张力低下。我们报告了一名10岁的男性弱智患者,他表现为癫痫发作。他的病史显示反复出现上呼吸道感染、神经发育迟缓和癫痫。研究还发现,由于呼吸急促、APGAR评分低和胎粪吸入综合征,他在新生儿重症监护室住院了五天。他的脑部核磁共振成像显示侧脑室和基底池有一定程度的扩张。肌电图和神经传导速度均正常。由于EHMT1基因的缺失,他被诊断为Kleefstra综合征。他目前正在接受吡拉西坦治疗和工作治疗。这是伊朗第二例这种综合征病例报告。本病例旨在提高Kleefstra综合征患者的诊断水平,这是一种罕见的非特征性综合征。
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引用次数: 0
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Reviews in Clinical Medicine
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