diagnostic tool

诊断工具
  • 文章类型: Journal Article
    外泌体是众所周知的细胞外囊泡,通过分布必需的大分子如蛋白质来促进细胞与细胞的通讯,DNA,mRNA脂质,和miRNA。这些囊泡富含分布在全身的液体中,包括尿液,血,唾液,甚至胆汁。它们是乳房的重要诊断工具,肺,胃肠道癌症,等。然而,它们作为癌症生物标志物的应用尚未在世界大多数地区实施。在这次审查中,我们讨论了如何通过替代传统的成像或活检方法来进行外泌体的OMIC分析来进行癌症检测.以前的方法,如广泛的成像和活检用于筛查是昂贵的,主要是侵入性的,并且无法轻易提供各种类型癌症的早期检测。通过简单地从个体收集体液,外来体生物标志物可用于常规筛选。我们预计,外泌体的使用将被临床试验的成功发现,这些临床试验研究了它们在未来几年增强癌症检测和治疗的潜力。
    Exosomes are extracellular vesicles well known for facilitating cell-to-cell communication by distributing essential macromolecules like proteins, DNA, mRNA, lipids, and miRNA. These vesicles are abundant in fluids distributed throughout the body, including urine, blood, saliva, and even bile. They are important diagnostic tools for breast, lung, gastrointestinal cancers, etc. However, their application as cancer biomarkers has not yet been implemented in most parts of the world. In this review, we discuss how OMICs profiling of exosomes can be practiced by substituting traditional imaging or biopsy methods for cancer detection. Previous methods like extensive imaging and biopsy used for screening were expensive, mostly invasive, and could not easily provide early detection for various types of cancer. Exosomal biomarkers can be utilized for routine screening by simply collecting body fluids from the individual. We anticipate that the use of exosomes will be brought to light by the success of clinical trials investigating their potential to enhance cancer detection and treatment in the upcoming years.
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  • 文章类型: Journal Article
    背景:人工智能(AI)广泛用于各种医疗领域,包括诊断放射学作为提高效率的工具,精度,和准确性。人工智能作为放射诊断工具的整合有可能减轻诊断延迟,这可能,反过来,影响患者预后和治疗结果。文献显示,关于患者对人工智能作为诊断工具的态度,结果相互矛盾。据我们所知,在沙特阿拉伯没有进行过类似的研究。
    目的:本研究的目的是在哈立德国王大学医院检查患者对使用人工智能作为诊断放射学工具的态度。沙特阿拉伯。此外,我们试图探索患者态度与各种社会人口统计学因素之间的潜在关联。
    方法:这项描述性分析横断面研究是在一家三级医院进行的。通过经过验证的自我管理问卷从计划进行放射学成像的患者收集数据。主要结果是通过计算5个因素的平均得分来衡量患者对放射学中AI使用的态度,不信任和问责(因素1),程序性知识(因素2),个人互动和沟通(因素3),效率(因子4),以及向患者提供信息的方法(因素5)。数据分析采用学生t检验,单向方差分析,然后进行事后和多变量分析。
    结果:共有382名参与者(n=273,71.5%女性和n=109,28.5%男性)完成了调查并被纳入分析。受访者的平均年龄为39.51(SD13.26)岁。参与者更喜欢医生而不是人工智能来获得程序知识,个人互动,并被告知。然而,与会者对不信任和问责制以及效率表现出中立的态度。婚姻状况被发现与不信任和责任有关,程序性知识,和个人互动。还发现了自我报告的健康状况与知情之间以及专业领域与不信任和问责制之间的关联。
    结论:患者热衷于了解AI在放射学中的工作,但倾向于与放射科医生进行个人互动。患者对人工智能取代放射科医生和人工智能的效率持公正态度,这应该是未来政策制定和整合的一个考虑因素。需要在沙特阿拉伯不同地区进行多中心研究的未来研究。
    BACKGROUND: Artificial intelligence (AI) is widely used in various medical fields, including diagnostic radiology as a tool for greater efficiency, precision, and accuracy. The integration of AI as a radiological diagnostic tool has the potential to mitigate delays in diagnosis, which could, in turn, impact patients\' prognosis and treatment outcomes. The literature shows conflicting results regarding patients\' attitudes to AI as a diagnostic tool. To the best of our knowledge, no similar study has been conducted in Saudi Arabia.
    OBJECTIVE: The objectives of this study are to examine patients\' attitudes toward the use of AI as a tool in diagnostic radiology at King Khalid University Hospital, Saudi Arabia. Additionally, we sought to explore potential associations between patients\' attitudes and various sociodemographic factors.
    METHODS: This descriptive-analytical cross-sectional study was conducted in a tertiary care hospital. Data were collected from patients scheduled for radiological imaging through a validated self-administered questionnaire. The main outcome was to measure patients\' attitudes to the use of AI in radiology by calculating mean scores of 5 factors, distrust and accountability (factor 1), procedural knowledge (factor 2), personal interaction and communication (factor 3), efficiency (factor 4), and methods of providing information to patients (factor 5). Data were analyzed using the student t test, one-way analysis of variance followed by post hoc and multivariable analysis.
    RESULTS: A total of 382 participants (n=273, 71.5% women and n=109, 28.5% men) completed the surveys and were included in the analysis. The mean age of the respondents was 39.51 (SD 13.26) years. Participants favored physicians over AI for procedural knowledge, personal interaction, and being informed. However, the participants demonstrated a neutral attitude for distrust and accountability and for efficiency. Marital status was found to be associated with distrust and accountability, procedural knowledge, and personal interaction. Associations were also found between self-reported health status and being informed and between the field of specialization and distrust and accountability.
    CONCLUSIONS: Patients were keen to understand the work of AI in radiology but favored personal interaction with a radiologist. Patients were impartial toward AI replacing radiologists and the efficiency of AI, which should be a consideration in future policy development and integration. Future research involving multicenter studies in different regions of Saudi Arabia is required.
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  • 文章类型: Journal Article
    背景:潜伏性结核感染(LTBI)仍然是一个重大挑战,因为没有黄金标准的诊断测试。目前用于鉴定LTBI的方法是干扰素-γ释放测定(IGRA),这是基于血液测试,和结核菌素皮肤试验(TST),灵敏度低。这两个测试都是不够的,主要是因为它们具有LTBI的低细菌负荷特性的局限性。这凸显了开发和采用更具体和准确的诊断测试以有效识别LTBI的必要性。在此,我们评估了Cy-Tb测试与TST诊断LTBI的成本效益。
    方法:使用决策树分析从卫生系统的角度进行了经济建模研究,最广泛用于使用转移概率的成本效益分析。我们的目标是使用Cy-Tb诊断测试以及TB预防性治疗(TPT)来估计LTBI预防的TB病例的增量成本和数量。次要数据,如人口统计特征,治疗结果,TST和Cy-Tb试验的诊断试验结果和费用数据来自已发表的文献.与TST相比,计算Cy-Tb测试的增量成本效益比。采用单向敏感性分析和概率敏感性分析对模型中的不确定度进行了评估。
    结果:研究结果表明,为了通过Cy-Tb测试诊断额外的LTBI病例,并通过提供TPT预防来预防TB病例,需要18.658印度卢比({\\$}223.5美元)的额外费用。概率敏感性分析表明,与TST测试相比,使用Cy-Tb测试诊断LTBI具有成本效益。如果Cy-Tb测试的成本降低,这成为一种节约成本的策略。
    结论:用于诊断LTBI的Cy-Tb测试在当前价格下具有成本效益,价格谈判可能会进一步将其转变为节约成本的策略。这一发现强调了医疗保健提供者和政策制定者需要考虑实施Cy-Tb测试以最大化经济效益。批量采购也可以考虑进一步降低成本和增加节约。
    BACKGROUND: Latent tuberculosis infection (LTBI) remains a significant challenge, as there is no gold standard diagnostic test. Current methods used for identifying LTBI are the interferon-γ release assay (IGRA), which is based on a blood test, and the tuberculin skin test (TST), which has low sensitivity. Both these tests are inadequate, primarily because they have limitations with the low bacterial burden characteristic of LTBI. This highlights the need for the development and adoption of more specific and accurate diagnostic tests to effectively identify LTBI. Herein we estimate the cost-effectiveness of the Cy-Tb test as compared with the TST for LTBI diagnosis.
    METHODS: An economic modelling study was conducted from a health system perspective using decision tree analysis, which is most widely used for cost-effectiveness analysis using transition probabilities. Our goal was to estimate the incremental cost and number of TB cases prevented from LTBI using the Cy-Tb diagnostic test along with TB preventive therapy (TPT). Secondary data such as demographic characteristics, treatment outcome, diagnostic test results and cost data for the TST and Cy-Tb tests were collected from the published literature. The incremental cost-effectiveness ratio was calculated for the Cy-Tb test as compared with the TST. The uncertainty in the model was evaluated using one-way sensitivity analysis and probability sensitivity analysis.
    RESULTS: The study findings indicate that for diagnosing an additional LTBI case with the Cy-Tb test and to prevent a TB case by providing TPT prophylaxis, an additional cost of 18 658 Indian rupees (US${\\$}$223.5) is required. The probabilistic sensitivity analysis indicated that using the Cy-Tb test for diagnosing LTBI was cost-effective as compared with TST testing. If the cost of the Cy-Tb test is reduced, it becomes a cost-saving strategy.
    CONCLUSIONS: The Cy-Tb test for diagnosing LTBI is cost-effective at the current price, and price negotiations could further change it into a cost-saving strategy. This finding emphasizes the need for healthcare providers and policymakers to consider implementing the Cy-Tb test to maximize economic benefits. Bulk procurements can also be considered to further reduce costs and increase savings.
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  • 文章类型: Journal Article
    不同种族之间的形态差异可以显着影响肩袖间隔(AHI)测量在诊断大量肩袖撕裂中的可靠性。这种变化引起了人们对在西方人群中进行的AHI研究对亚洲人群的普遍性的质疑。因此,这项研究的主要目的是开发一种新的参数,可以提高巨大的肩袖撕裂的诊断,与不同种族背景的个体之间的形态差异无关。
    对肩关节镜手术患者进行了10年的回顾性分析,根据术中发现将它们分为3组:没有肩袖撕裂的组,那些泪流满面的人,还有那些泪流满面的人。AHI-关节盂比率(AHIGR)由具有不同学术背景的个体测量,并将其诊断性能与AHI进行了比较。灵敏度,特异性,准确度,并对评估者内和评估者间的可靠性进行了评估。
    AHIGR显示出显着改善的灵敏度,特异性,作为巨大肩袖撕裂的诊断工具的准确性,与AHI相比。AHIGR≤0.2的建议截止点产生了与AHI<7mm相当的结果。在不同的观察者中,评估者之间的可靠性非常好。
    AHIGR成为一种有前途的诊断工具,用于大量肩袖撕裂,与AHI相比,提高了灵敏度和特异性。它在不同观察者中的可重复性强调了其潜在的临床实用性。虽然有必要对更大、更多样化的患者队列进行进一步研究,AHIGR具有巨大的潜力,可作为增强对大量肩袖撕裂的评估的参考。
    UNASSIGNED: Morphological differences among various ethnicities can significantly impact the reliability of acromiohumeral interval (AHI) measurements in diagnosing massive rotator cuff tears. This variation raises questions about the generalizability of AHI studies conducted in Western populations to the Asian population. Consequently, the primary objective of this study was to develop a novel parameter that can enhance the diagnosis of massive rotator cuff tears, irrespective of morphometric disparities between individuals of different ethnic backgrounds.
    UNASSIGNED: A 10-year retrospective analysis of shoulder arthroscopic surgery patients was conducted, categorizing them into 3 groups based on intraoperative findings: those without rotator cuff tears, those with non-massive tears, and those with massive tears. AHI-glenoid ratio (AHIGR) was measured by individuals with varying academic backgrounds, and its diagnostic performance was compared to AHI. Sensitivity, specificity, accuracy, and intra- and inter-rater reliability were evaluated.
    UNASSIGNED: AHIGR exhibited significantly improved sensitivity, specificity, and accuracy as a diagnostic tool for massive rotator cuff tears, compared to AHI. A proposed cut-off point of AHIGR ≤ 0.2 yielded comparable results to AHI < 7 mm. Intra- and inter-rater reliability was excellent among different observers.
    UNASSIGNED: AHIGR emerges as a promising diagnostic tool for massive rotator cuff tears, offering improved sensitivity and specificity compared to AHI. Its reproducibility among diverse observers underscores its potential clinical utility. While further research with larger and more diverse patient cohorts is necessary, AHIGR offers significant potential as a reference for enhancing the assessment of massive rotator cuff tears.
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  • 文章类型: Journal Article
    背景:本系统综述检查并评估了年轻成年患者唾液皮质醇水平与颞下颌关节紊乱病(TMD)之间的关系。
    方法:六个数据库-PubMed,Scopus,WebofScience,谷歌学者,ProQuest,和Cochrane图书馆-用于筛选符合条件的研究。根据PECO问题和资格标准进行了系统搜索。本综述的研究问题是“18-40岁个体唾液皮质醇水平与TMD相关吗?”质量评估偏倚的风险由Cochrane工具确定。在进行本审查时遵循PRISMA指南。
    结果:本综述共纳入14项研究。其中,11项观察性研究(4项横断面研究和7项病例对照研究),3项为随机对照试验.纳入的研究中有11项在定性综合中呈现低到中度风险。纳入研究的总样本量为751名参与者。纳入的研究表明,TMD患者的唾液皮质醇水平高于健康个体。
    结论:本综述的结果表明,成人TMD患者的唾液皮质醇水平高于健康对照组。因此,应向TMD患者提供支持性心理治疗和临床治疗方式。此外,需要低异质性的高质量研究来支持这一发现.
    BACKGROUND: This systematic review examines and evaluates the relationship between salivary cortisol levels and temporomandibular disorder (TMD) in young adult patients.
    METHODS: Six databases-PubMed, Scopus, Web of Science, Google Scholar, ProQuest, and Cochrane Library-were utilized to screen eligible studies. A systematic search was performed based on PECO questions and eligibility criteria. The research question for this review was \"Do salivary cortisol levels correlate with TMD in individuals aged 18-40?\" The risk of bias for quality assessment was determined by the Cochrane tool. PRISMA guidelines were followed while performing this review.
    RESULTS: A total of fourteen studies were included in this review. Of these, eleven were observational studies (four cross-sectional and seven case-control), and three were randomized control trials. Eleven of the included studies presented a low to moderate risk in the qualitative synthesis. The total sample size of the included studies was 751 participants. The included studies suggest higher salivary cortisol levels in TMD patients than in healthy individuals.
    CONCLUSIONS: The findings of this review indicate higher salivary cortisol levels in adult patients with TMD than in healthy controls. Thus, supportive psychological treatment and clinical modalities should be provided to patients with TMD. Moreover, higher-quality studies with low heterogeneity are required to support this finding.
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  • 文章类型: Journal Article
    一些研究表明人工智能(AI)在筛查左心室肥厚(LVH)中的实用性。因此,我们进行了系统评价和荟萃分析,比较了AI与Sokolow-Lyon和Cornell标准的诊断准确性。我们的目标是提供新开发的用于诊断LVH的AI工具的全面概述。我们搜索了MEDLINE,EMBASE,和Cochrane数据库进行相关研究,直到2023年5月。包括评估AI在LVH检测中的准确性的观察性研究。受试者工作特征曲线(ROC)下的面积以及合并的敏感性和特异性根据标准标准评估了AI的性能。共有66,479人参加,有和没有LVH,包括在内。使用AI与提高的诊断准确性相关,总结ROC(SROC)为0.87。索科洛-里昂标准和康奈尔标准的准确性较低(0.68和0.60)。AI的敏感性和特异性分别为69%和87%。相比之下,Sokolow-Lyon的特异性为92%,灵敏度为25%,而康奈尔的特异性为94%,敏感性为19%。这表明基于AI的算法在LVH检测中具有优越的诊断准确性。我们的研究表明,与传统标准相比,基于AI的LVH诊断方法具有更高的诊断准确性。灵敏度显著提高。这些发现有助于验证AI作为LVH检测的有前途的工具。
    Several studies suggested the utility of artificial intelligence (AI) in screening left ventricular hypertrophy (LVH). We hence conducted systematic review and meta-analysis comparing diagnostic accuracy of AI to Sokolow-Lyon\'s and Cornell\'s criteria. Our aim was to provide a comprehensive overview of the newly developed AI tools for diagnosing LVH. We searched MEDLINE, EMBASE, and Cochrane databases for relevant studies until May 2023. Included were observational studies evaluating AI\'s accuracy in LVH detection. The area under the receiver operating characteristic curves (ROC) and pooled sensitivities and specificities assessed AI\'s performance against standard criteria. A total of 66,479 participants, with and without LVH, were included. Use of AI was associated with improved diagnostic accuracy with summary ROC (SROC) of 0.87. Sokolow-Lyon\'s and Cornell\'s criteria had lower accuracy (0.68 and 0.60). AI had sensitivity and specificity of 69% and 87%. In comparison, Sokolow-Lyon\'s specificity was 92% with a sensitivity of 25%, while Cornell\'s specificity was 94% with a sensitivity of 19%. This indicating its superior diagnostic accuracy of AI based algorithm in LVH detection. Our study demonstrates that AI-based methods for diagnosing LVH exhibit higher diagnostic accuracy compared to conventional criteria, with notable increases in sensitivity. These findings contribute to the validation of AI as a promising tool for LVH detection.
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  • 文章类型: Journal Article
    背景:谵妄是一种急性和波动性的注意力障碍,意识,和认知,通常在医院环境中观察到,尤其是在老年人中,危重患者和手术患者。谵妄对患者护理提出了重大挑战,导致发病率增加,死亡率,住院时间延长,功能下降。
    目的:本综述的目的是绘制适用于髋部骨折手术患者谵妄诊断工具的现有证据,为临床实践提供信息,并在术后环境中加强患者护理方案。
    方法:我们将根据系统评价的首选报告项目和范围评价的Meta分析扩展(PRISMA-ScR),对术后成人患者使用的谵妄诊断工具进行范围评价。资格标准涵盖所有语言,出版日期,和研究设计,病例报告除外。我们将系统地搜索多个数据库,包括未发表的试验,确保根据预定义的协议进行全面审查。
    结果:结果将以描述性方式呈现,带有补充表格和图表。研究将按设计分组,外科专科,和诊断工具来识别潜在的变化。
    结论:本范围综述将提供在术后设置中使用的现有谵妄诊断工具的概述,并强调知识差距,以支持未来的研究。由于大量患者受到术后谵妄的影响,证据映射是非常需要的,以促进循证实践。
    BACKGROUND: Delirium is an acute and fluctuating disturbance in attention, awareness, and cognition, commonly observed in hospital settings, particularly among older adults, critically ill and surgical patients. Delirium poses significant challenges in patient care, leading to increased morbidity, mortality, prolonged hospital stays, and functional decline.
    OBJECTIVE: The aim of this review is to map existing evidence on delirium diagnostic tools suitable for use in patients treated surgically due to hip fracture, to inform clinical practice and enhance patient care protocols in the postoperative setting.
    METHODS: We will conduct a scoping review on delirium diagnostic tools used for adult patients in the postoperative setting according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Eligibility criteria encompass all languages, publications dates, and study designs, with exception of case-reports. We will systematically search multiple databases and include unpublished trials, ensuring a comprehensive review based on a predefined protocol.
    RESULTS: Results will be presented descriptively, with supplementary tables and graphs. Studies will be grouped by design, surgical specialties, and diagnostic tools to identify potential variations.
    CONCLUSIONS: This scoping review will provide an overview of existing delirium diagnostic tools used in the postoperative setting and highlight knowledge-gaps to support future research. Due to the large number of patients affected by postoperative delirium, evidence mapping is much needed to facilitate evidence-based practice.
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  • 文章类型: Journal Article
    HIV-1的早期诊断对于减少传播至关重要。发病率,和死亡率,特别是对于免疫系统发育的新生儿。本研究旨在开发和评估一种简化的,血清转换前早期HIV-1检测的高灵敏度测定。该测定利用逆转录聚合酶链反应(RT-PCR)来扩增HIV-1RNA蛋白酶基因。地高辛(挖)-标记向前,使用生物素标记的通用反向引物,产生地高辛-扩增子-生物素(DAB)产品。使用包含具有胶体金标记的6-组氨酸标签-融合麦芽糖-结合蛋白-单体链霉亲和素(6HISMBP-mSA-CGC)的缀合垫的侧流测定(LFA)检测这些产物。抗-dig单克隆抗体(mAb)和生物素化的BSA固定在测试和对照线区域,分别。使用具有已知病毒载量(VL)的五个血浆样品来模拟早期HIV-1检测的功效。使用标记的引物通过RT-PCR扩增从这些样品中提取的RNA,在琼脂糖凝胶电泳和LFA上检查DAB产物。稀释的临床样品的RT-PCR在琼脂糖凝胶电泳中产生可见的DNA条带,与LFA阳性结果一致。相反,阴性样本仅显示LFA上的对照线。该测定显示82.29RNA拷贝/mL的检测限(LOD),与其他核酸扩增试验(NAAT)相当。这项新技术为早期HIV-1诊断提供了高度灵敏的检测方法。即使低VL,使其适合于资源有限的设置。
    Early diagnosis of HIV-1 is crucial to minimize transmission, morbidity, and mortality, particularly for neonates with developing immune systems. This study aimed to develop and evaluate a simplified, high-sensitivity assay for early HIV-1 detection before seroconversion. The assay utilizes reverse-transcription-polymerase chain reaction (RT-PCR) to amplify the HIV-1 RNA protease gene. Digoxigenin (dig)-labeled forward, and biotin-labeled universal reverse primers are used, generating digoxigenin-amplicon-biotin (DAB) products. These products are detected using a lateral flow assay (LFA) containing a conjugated pad with colloidal gold-labeled 6-histidine tag-fused maltose-binding protein-monomeric streptavidin (6HISMBP-mSA-CGC). Anti-dig monoclonal antibody (mAb) and biotinylated-BSA are immobilized in the test and control line zones, respectively. Five plasma samples with known viral load (VL) were used to simulate the efficacy of early HIV-1 detection. RNA extracted from these samples was amplified by RT-PCR using the labeled primers, and DAB products were examined on agarose gel electrophoresis and LFA. RT-PCR from diluted clinical samples yielded visible DNA bands in agarose gel electrophoresis, consistent with positive LFA results. Conversely, negative samples only displayed the control line on LFA. This assay exhibited a limit of detection (LOD) of 82.29 RNA copies/mL, comparable to other nucleic acid amplification tests (NAATs). This novel technique provides a highly sensitive assay for early HIV-1 diagnosis, even with low VL, making it suitable for resource-limited settings.
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  • 文章类型: Journal Article
    Chirality,具有镜像形式的分子的性质,在制药和生物医学研究中起着至关重要的作用。这篇评论强调了它日益增长的重要性,强调手性药物和纳米材料如何影响药物有效性,安全,和诊断。手性分子作为精确的诊断工具,通过独特的生物分子相互作用帮助准确的疾病检测。这篇文章广泛涵盖了手性药物在治疗心血管疾病中的应用,中枢神经系统疾病,局部麻醉,抗炎药,抗菌药物,和抗癌药物。此外,它探索了手性纳米材料的新兴领域,强调它们在诊断和治疗中的生物医学应用的适用性,加强医疗。
    Chirality, the property of molecules having mirror-image forms, plays a crucial role in pharmaceutical and biomedical research. This review highlights its growing importance, emphasizing how chiral drugs and nanomaterials impact drug effectiveness, safety, and diagnostics. Chiral molecules serve as precise diagnostic tools, aiding in accurate disease detection through unique biomolecule interactions. The article extensively covers chiral drug applications in treating cardiovascular diseases, CNS disorders, local anesthesia, anti-inflammatories, antimicrobials, and anticancer drugs. Additionally, it explores the emerging field of chiral nanomaterials, highlighting their suitability for biomedical applications in diagnostics and therapeutics, enhancing medical treatments.
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  • 文章类型: Case Reports
    一名二十多岁的男性患者向我们的三级专家单位提出生殖器模糊,抱怨身材矮小和交配不足。没有血缘关系的历史,体格检查引起了人们对可能的性发育障碍(DSD)的担忧。核型分析和荧光原位杂交结果与两条X染色体的存在一致,揭示病人是基因型女性.Sanger测序显示CYP21A2基因中已知与21-羟化酶缺乏症相关的杂合致病突变,从而确认先天性肾上腺增生(CAH)的诊断,PraderV.DSD与CAH令患者及其家人感到不安,管理需要一个涉及不同医疗的多维方法,遗传,和心理考虑。细胞遗传学和分子遗传学研究在诊断和决策中起着至关重要的作用,发展中国家应该负担得起更好的患者护理。
    A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence in situ hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.
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