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Vojnosanit Pregl. 2016 Dec;73(12):1089-93. doi: 10.2298/VSP161006315B.
2
Health problems in females carriers of premutation in the FMR1 gene.FMR1基因前突变女性携带者的健康问题。
Psychiatr Pol. 2017 Oct 29;51(5):899-907. doi: 10.12740/PP/65778.
3
Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.脆性X染色体相关的卵巢储备功能减退和原发性卵巢功能不全:从分子机制到临床表现
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4
A comparative study of interprofessional education in global health care: A systematic review.全球卫生保健中跨专业教育的比较研究:一项系统综述。
Medicine (Baltimore). 2017 Sep;96(38):e7336. doi: 10.1097/MD.0000000000007336.
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Pediatrics. 2017 Jun;139(Suppl 3):S207-S215. doi: 10.1542/peds.2016-1159G.
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.脆性X综合征中的自闭症谱系障碍:共病情况与当前治疗
Pediatrics. 2017 Jun;139(Suppl 3):S194-S206. doi: 10.1542/peds.2016-1159F.
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Implications of the Premutation for Children, Adolescents, Adults, and Their Families.前突变对儿童、青少年、成年人及其家庭的影响。
Pediatrics. 2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D.
8
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塞尔维亚的脆性X相关疾病:医学专业人员知识、态度和行为的基线定量与定性调查

Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals.

作者信息

Budimirovic Dejan B, Cvjetkovic Smiljana, Bukumiric Zoran, Duy Phan Q, Protic Dragana

机构信息

Clinical Trials Unit, Fragile X Clinic, Department of Psychiatry, Clinical Research Center, Kennedy Krieger Institute, Johns Hopkins Medical Institutions Baltimore, MD, United States.

School of Medicine, Belgrade University, Belgrade, Serbia.

出版信息

Front Neurosci. 2018 Sep 21;12:652. doi: 10.3389/fnins.2018.00652. eCollection 2018.

DOI:10.3389/fnins.2018.00652
PMID:30297982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6160902/
Abstract

We conducted a knowledge, attitude, and practice (KAP) survey of fragile X-associated disorders (FXD) in Serbia in order to obtain baseline quantitative and qualitative KAP data on fragile X mental retardation 1 gene () pre- and full mutations (PM, FM). The survey's 16-item questionnaire included a knowledge component (12/16), such as self-assessment knowledge (SAK) and factual knowledge (FK, 2/5 questions for PM, FXTAS and FXPOI). Education-directed attitudes in the FXD field and testing practices had 4/16 items, including brief case vignettes of FXTAS and FXPOI, respectively. The study's cohort consisted of primary care physicians (referred to as "physicians" in the rest of the text) throughout Serbia ( = 284, aged 26-64 years, 176/284, 62.2% in Belgrade, Serbia) and senior medical students ( = 245, aged 23-30 years; 33.5% males) at the Belgrade School of Medicine. Strikingly, half of the survey respondents indicated "not having any" knowledge for the fragile X gene premutation and FXD. Physicians were more likely to indicate "not having any" knowledge than students (41.2% of physicians vs. 13.1% of students, < 0.05). Roughly half of the students had "minimal knowledge" (53.5 vs. 30.5% of physicians, < 0.05). Low FK was common in the cohort, as few physicians had "all correct answers" (7.5 vs. 3.7% of students, < 0.05; 16.5 vs. 9.5% of students for the 2/5 premutation-related questions). Statistical analyses identified physicians' practice setting and length of clinical experience as predictors of the lack of FK on questions related to FXD. Physicians were more likely than students to indicate "strongly agreed" to expand their knowledge of the gene premutation and FXD (90.9 vs. 66.7% of students, < 0.01). However, students more frequently indicated that they are willing to recommend DNA testing in their future practices than physicians (93.5 vs. 64.8% of physicians, < 0.001). In , there is a major gap in knowledge regarding fragile X gene PM and FXD among the study's participants in Serbia. The study's informative-educational survey serves as an initial step in the process of enhancing the KAP of medical professionals with regards to the fragile X gene premutation and FXD.

摘要

我们在塞尔维亚开展了一项关于脆性X相关疾病(FXD)的知识、态度和实践(KAP)调查,以获取关于脆性X智力低下1基因()前突变和全突变(PM,FM)的基线定量和定性KAP数据。该调查的16项问卷包括一个知识部分(16项中的12项),如自我评估知识(SAK)和事实性知识(FK,关于PM、FXTAS和FXPOI的问题中各有2/5)。FXD领域的教育导向态度和检测实践各有4/16项,分别包括FXTAS和FXPOI的简短病例 vignettes。该研究的队列包括塞尔维亚各地的初级保健医生(在本文其余部分称为“医生”)(= 284人,年龄26 - 64岁,176/284,62.2%在塞尔维亚贝尔格莱德)以及贝尔格莱德医学院的高年级医学生(= 245人,年龄23 - 30岁;33.5%为男性)。引人注目的是,一半的调查受访者表示对脆性X基因前突变和FXD“一无所知”。医生比学生更有可能表示“一无所知”(41.2%的医生 vs. 13.1%的学生,< 0.05)。大约一半的学生有“极少的知识”(53.5%对30.5%的医生,< 0.05)。该队列中低FK很常见,因为很少有医生能“全部答对”(7.5%对3.7%的学生,< 0.05;对于2/5与前突变相关的问题,16.5%对9.5%的学生)。统计分析确定医生的执业环境和临床经验长度是与FXD相关问题上缺乏FK的预测因素。医生比学生更有可能表示“强烈同意”扩展他们对基因前突变和FXD的知识(90.9%对66.7%的学生,< 0.01)。然而,学生比医生更频繁地表示他们愿意在未来的实践中推荐DNA检测(93.5%对64.8%的医生,< 0.001)。在塞尔维亚,该研究的参与者在关于脆性X基因PM和FXD的知识方面存在重大差距。该研究的信息教育调查是提高医学专业人员关于脆性X基因前突变和FXD的KAP过程中的第一步。