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  • 文章类型: Journal Article
    背景:由于如今患者往往有多种疾病和复杂的病史,我们的目标是识别高质量的,非工具性吞咽困难筛查工具用于在急性护理环境中检测所有疾病类别的成人吞咽困难病例。
    方法:从每个数据库最早成立到2021年7月31日,在五个数据库中进行了文献检索,并以五个关键词为指导:“吞咽困难”,\'吞咽\',\'筛选\',\'test\'和\'measure\'。在不限制搜索任何特定疾病类别的情况下,审核员对原始研究进行了评估,并确定了工具是否经过了仪器评估的验证,以及是否将其设计为通过-失败程序来筛查吞咽困难是否不存在或存在.我们进一步排除了任何工具,如果它是(1)用于儿科焦点,或(2)患者自我报告问卷。使用经修订的诊断准确性研究质量评估工具(QUADAS-2)对所有最终候选工具进行了方法学质量评估。
    结果:在195项研究中,确定了165种工具,20名候选工具接受了QUADAS-2审查。我们发现了六个高质量的,在急性护理环境中检测成人吞咽困难病例的非工具筛查工具,包括耶鲁燕子协议,狼吞虎咽的屏幕,多伦多床边吞咽筛查测试(英语和葡萄牙语版本),Sapienza全球床边评估吞咽和两步加厚水测试。这些高质量的工具主要是为中风患者开发的。最初只有耶鲁燕子方案对中风的异质人群进行了测试,多发性硬化症,创伤性脑损伤,食道手术,神经外科和头颈癌.
    结论:结果突出表明,在包括老年住院患者在内的几个出现的高危人群中,缺乏高质量吞咽困难筛查工具的差距,或气管内拔管后的患者。需要进一步的研究来确定这六种工具是否可以有效地应用于急性护理环境中的不同高危人群,以筛选病例发现。
    BACKGROUND: As patients nowadays tend to have multiple diseases and complex medical histories, our aim was to identify high-quality, non-instrumental dysphagia screening tools used for the detection of adult dysphagia cases in all disease categories in acute-care settings.
    METHODS: A literature search was conducted in five databases from each database\'s earliest inception to 31 July 2021 and guided by five keywords: \'dysphagia\', \'deglutition\', \'screening\', \'test\' and \'measure\'. Without limiting the search in any specific disease category, reviewers assessed original studies and identified tools if they had been validated against instrumental evaluations and if they had been designed as a pass-fail procedure to screen whether dysphagia is absent or present. We further excluded any tool if it was (1) for pediatric focus, or (2) a patient self-report questionnaire. All final tool candidates underwent a methodological quality appraisal using the Revised Tool for the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2).
    RESULTS: Out of 195 studies with 165 tools identified, 20 tool candidates underwent QUADAS-2 review. We found six high-quality, non-instrumental screening tools for detecting adult dysphagia cases in acute-care settings, including the Yale Swallow Protocol, Gugging Swallowing Screen, Toronto Bedside Swallowing Screening Test (both English and Portuguese versions), Sapienza Global Bedside Evaluation of Swallowing and Two-Step Thickened Water Test. These high-quality tools were developed primarily for patients with stroke. Only Yale Swallow Protocol was originally tested for heterogeneous populations with stroke, multiple sclerosis, traumatic brain injury, oesophageal surgery, neurosurgery and head-and-neck cancer.
    CONCLUSIONS: The results highlight the gap in the unavailability of high-quality dysphagia screening tool in several emerged high-risk populations including elderly inpatients, or patients following endotracheal extubation. Further research is needed to determine whether these six tools can be effectively applied across different high-risk populations in acute-care settings to screen for cases finding.
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  • 文章类型: Journal Article
    背景:寻找耐药结核病(DR-TB)患者对于控制大流行和改善患者临床预后非常重要。据我们所知,评估有效性的系统评价,成本效益,可接受性,以及不同的DR-TB病例发现策略为研究提供信息的可行性,政策,和实践,尚未进行,初步研究的范围未知。
    目的:因此,我们评估了有关DR-TB病例发现策略的现有文献。
    方法:我们研究了系统评价,试验,定性研究,诊断测试准确性研究,以及其他旨在改善DR-TB病例检测的主要研究。我们排除了包括寻求结核病(TB)症状的患者的研究,已经诊断为结核病的患者,或者是基于实验室的。我们搜索了MEDLINE的学术数据库,Embase,科克伦图书馆,非洲信息,CINAHL(护理和相关健康文献累积指数),认识论,和PROSPERO(国际前瞻性系统审查登记册),没有语言或日期限制。我们筛选了标题,摘要,和全文一式两份。在Excel(微软公司)中进行数据提取和分析。
    结果:我们筛选了3646篇标题和摘要以及236篇全文文章。我们确定了6项系统评价和61项主要研究。五篇评论描述了接触调查的成果,并侧重于家庭接触,航空公司联系人,药物敏感结核病和DR-TB接触之间的比较,以及索引病例和接触者之间DR-TB谱的一致性。一篇综述比较了通用和选择性耐药性测试。主要研究描述了(1)34项接触调查,(2)17次疫情调查,(3)3航空公司联系调查,(4)5项流行病学分析,(5)1个公私合作计划,和(6)电子注册程序。主要研究均为描述性研究,包括项目数据的横断面和回顾性综述。没有确定试验。由于相关信息的报告不完整,很难从接触调查中提取数据。
    结论:可以更新现有的描述性评论,但是对有效性缺乏了解,成本效益,可接受性,以及为政策和实践提供信息的DR-TB病例发现策略的可行性。还需要术语的标准化,设计,和报告DR-TB病例发现研究。
    BACKGROUND: Finding individuals with drug-resistant tuberculosis (DR-TB) is important to control the pandemic and improve patient clinical outcomes. To our knowledge, systematic reviews assessing the effectiveness, cost-effectiveness, acceptability, and feasibility of different DR-TB case-finding strategies to inform research, policy, and practice, have not been conducted and the scope of primary research is unknown.
    OBJECTIVE: We therefore assessed the available literature on DR-TB case-finding strategies.
    METHODS: We looked at systematic reviews, trials, qualitative studies, diagnostic test accuracy studies, and other primary research that sought to improve DR-TB case detection specifically. We excluded studies that included patients seeking care for tuberculosis (TB) symptoms, patients already diagnosed with TB, or were laboratory-based. We searched the academic databases of MEDLINE, Embase, The Cochrane Library, Africa-Wide Information, CINAHL (Cumulated Index to Nursing and Allied Health Literature), Epistemonikos, and PROSPERO (The International Prospective Register of Systematic Reviews) using no language or date restrictions. We screened titles, abstracts, and full-text articles in duplicate. Data extraction and analyses were carried out in Excel (Microsoft Corp).
    RESULTS: We screened 3646 titles and abstracts and 236 full-text articles. We identified 6 systematic reviews and 61 primary studies. Five reviews described the yield of contact investigation and focused on household contacts, airline contacts, comparison between drug-susceptible tuberculosis and DR-TB contacts, and concordance of DR-TB profiles between index cases and contacts. One review compared universal versus selective drug resistance testing. Primary studies described (1) 34 contact investigations, (2) 17 outbreak investigations, (3) 3 airline contact investigations, (4) 5 epidemiological analyses, (5) 1 public-private partnership program, and (6) an e-registry program. Primary studies were all descriptive and included cross-sectional and retrospective reviews of program data. No trials were identified. Data extraction from contact investigations was difficult due to incomplete reporting of relevant information.
    CONCLUSIONS: Existing descriptive reviews can be updated, but there is a dearth of knowledge on the effectiveness, cost-effectiveness, acceptability, and feasibility of DR-TB case-finding strategies to inform policy and practice. There is also a need for standardization of terminology, design, and reporting of DR-TB case-finding studies.
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  • 文章类型: Journal Article
    静脉血栓栓塞(VTE)与癌症之间的联系是众所周知的。VTE可能是隐匿性恶性肿瘤的最初征兆。与引起的VTE相比,无缘无故的VTE后有更多的癌症诊断,报告的12个月患病率在4.5%至5.6%之间,在VTE诊断的前6个月内。在临床实践中尚无推荐的指南和评分。但许多研究支持对无端VTE患者进行隐匿性癌症筛查.我们报告了一例有无源性肺栓塞(PE)病史的患者,该患者在血栓栓塞事件发生一年后的晚期被诊断为支气管肺肿瘤。当癌症第一次被诊断出来时,病人的病情已经很严重,采取旨在降低死亡风险和延长生存时间的措施为时已晚。我们想强调隐匿性癌症筛查对无端VTE患者的重要性,以及早期癌症诊断降低癌症进展风险的事实。降低与之相关的死亡率和发病率。
    The link between venous thromboembolism (VTE) and cancer is well known. VTE could be the initial sign of an occult malignancy. There are more diagnoses of cancer after an unprovoked VTE compared to a provoked VTE, with a reported prevalence between 4.5% and 5.6% over 12 months, within the first 6 months of VTE diagnosis. There are no recommended guidelines and scores yet adopted in clinical practice, but many studies support occult cancer screening in unprovoked VTE patients. We report the case of a patient with a history of unprovoked pulmonary embolism (PE) diagnosed with bronchopulmonary neoplasm in an advanced stage one year after the thromboembolic event. When the cancer was first diagnosed, the patient\'s condition was already serious, being too late for the adoption of measures meant to decrease the risk of mortality and increase the duration of survival. We wanted to emphasize the importance of occult cancer screening in patients with unprovoked VTE and the fact that early cancer diagnosis reduces the risk of cancer progression, decreasing mortality and morbidity related to it.
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  • 文章类型: Journal Article
    背景:脊髓型颈椎病(CM)会引起一些症状,例如手笨拙,通常需要手术。CM的筛查和早期诊断很重要,因为一些患者不知道他们的早期症状,只有在他们的病情变得严重后才咨询外科医生。10秒手握和释放测试通常用于检查CM的存在。该测试很简单,但如果可以客观地评估CM特有的运动变化,则对筛查更有用。先前的一项研究使用LeapMotion分析了10秒手抓握和释放测试中的手指运动,非接触式传感器,并开发了一个系统,可以诊断CM具有高灵敏度和特异性使用机器学习。然而,之前的研究有局限性,因为该系统记录的参数很少,并且不能区分CM和其他手部疾病.
    目的:本研究旨在开发一种能够以更高的灵敏度和特异性诊断CM的系统,并区分CM和腕管综合征(CTS),一种常见的手部疾病.然后,我们使用改进的LeapMotion验证了该系统,该系统可以记录每个手指的关节。
    方法:总共,31、27和29名参与者被招募到CM,CTS,和对照组,分别。我们开发了一个使用LeapMotion的系统,该系统记录了229个手指运动参数,而参与者则尽可能快地握住并释放手指。用支持向量机进行机器学习,建立二元分类模型,计算灵敏度,特异性,和曲线下面积(AUC)。我们开发了两种模型,一个在CM和对照组中诊断CM(CM/控制模型),在CM和非CM组中诊断CM(CM/非CM模型)。
    结果:CM/对照模型指标如下:灵敏度74.2%,特异性89.7%,和AUC0.82。CM/非CM模型指数如下:灵敏度71%,特异性72.87%,和AUC0.74。
    结论:我们开发了一种能够以更高的灵敏度和特异性诊断CM的筛查系统。该系统可以区分患有CM的患者与患有CTS的患者以及健康患者,并且具有在各种患者中筛查CM的潜力。
    BACKGROUND: Cervical myelopathy (CM) causes several symptoms such as clumsiness of the hands and often requires surgery. Screening and early diagnosis of CM are important because some patients are unaware of their early symptoms and consult a surgeon only after their condition has become severe. The 10-second hand grip and release test is commonly used to check for the presence of CM. The test is simple but would be more useful for screening if it could objectively evaluate the changes in movement specific to CM. A previous study analyzed finger movements in the 10-second hand grip and release test using the Leap Motion, a noncontact sensor, and a system was developed that can diagnose CM with high sensitivity and specificity using machine learning. However, the previous study had limitations in that the system recorded few parameters and did not differentiate CM from other hand disorders.
    OBJECTIVE: This study aims to develop a system that can diagnose CM with higher sensitivity and specificity, and distinguish CM from carpal tunnel syndrome (CTS), a common hand disorder. We then validated the system with a modified Leap Motion that can record the joints of each finger.
    METHODS: In total, 31, 27, and 29 participants were recruited into the CM, CTS, and control groups, respectively. We developed a system using Leap Motion that recorded 229 parameters of finger movements while participants gripped and released their fingers as rapidly as possible. A support vector machine was used for machine learning to develop the binary classification model and calculated the sensitivity, specificity, and area under the curve (AUC). We developed two models, one to diagnose CM among the CM and control groups (CM/control model), and the other to diagnose CM among the CM and non-CM groups (CM/non-CM model).
    RESULTS: The CM/control model indexes were as follows: sensitivity 74.2%, specificity 89.7%, and AUC 0.82. The CM/non-CM model indexes were as follows: sensitivity 71%, specificity 72.87%, and AUC 0.74.
    CONCLUSIONS: We developed a screening system capable of diagnosing CM with higher sensitivity and specificity. This system can differentiate patients with CM from patients with CTS as well as healthy patients and has the potential to screen for CM in a variety of patients.
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  • 文章类型: Journal Article
    背景:基于人工智能(AI)的用于乳房X线照相术的癌症探测器(CAD)开始用于放射科的乳腺癌筛查。重要的是要了解AICAD系统对良性病变的反应,尤其是那些接受过活检的.
    目的:我们的目的是证实这样的假设,即先前进行过良性活检和细胞学评估的女性即使保持健康,随后也会呈现增加的AICAD异常评分。
    方法:这是一项应用商业AICAD系统的回顾性研究(InsightMMG,版本1.1.4.3;LunitInc)到10,889名女性(中位年龄56,范围40-74岁)的癌症富集乳房X线摄影筛查数据集。AICAD在0.00和1.00之间产生肿瘤怀疑的连续预测评分,其中1.00代表最高怀疑水平。基于预定截止阈值(0.40)定义二进制读取(标记或未标记)。为健康的女性计算了AI评分的标记中位数和比例,那些有良性活检发现的人,和那些被诊断出患有乳腺癌的人。对于有良性活检发现的女性,乳房X线照相术和活检之间的时间间隔用于AI评分的分层.使用亚组分析和回归模型检查年龄增加的影响。
    结果:共有10,889名妇女,234在筛查之前或之后有良性活检发现。被标记的健康女性的比例为3.5%,11%,84%的健康女性没有良性活检发现,那些有良性活检发现的人,和患有乳腺癌的女性,分别(P<.001)。对于8307名拥有完整信息的女性,放射科医生1、放射科医生2和AICAD系统标记为8.5%,6.8%,和8.5%的先前有良性活检发现的女性检查。AI评分仅与癌症组女性的年龄增长相关(P=0.01)。
    结论:与没有活检的健康女性相比,所检查的AICAD系统显示,根据放射科医生的决定,有或将有良性活检发现的女性比例要大得多。然而,标记率不高于放射科医生。进一步的研究应集中在考虑先前活检信息的AICAD系统的培训上。
    BACKGROUND: Artificial intelligence (AI)-based cancer detectors (CAD) for mammography are starting to be used for breast cancer screening in radiology departments. It is important to understand how AI CAD systems react to benign lesions, especially those that have been subjected to biopsy.
    OBJECTIVE: Our goal was to corroborate the hypothesis that women with previous benign biopsy and cytology assessments would subsequently present increased AI CAD abnormality scores even though they remained healthy.
    METHODS: This is a retrospective study applying a commercial AI CAD system (Insight MMG, version 1.1.4.3; Lunit Inc) to a cancer-enriched mammography screening data set of 10,889 women (median age 56, range 40-74 years). The AI CAD generated a continuous prediction score for tumor suspicion between 0.00 and 1.00, where 1.00 represented the highest level of suspicion. A binary read (flagged or not flagged) was defined on the basis of a predetermined cutoff threshold (0.40). The flagged median and proportion of AI scores were calculated for women who were healthy, those who had a benign biopsy finding, and those who were diagnosed with breast cancer. For women with a benign biopsy finding, the interval between mammography and the biopsy was used for stratification of AI scores. The effect of increasing age was examined using subgroup analysis and regression modeling.
    RESULTS: Of a total of 10,889 women, 234 had a benign biopsy finding before or after screening. The proportions of flagged healthy women were 3.5%, 11%, and 84% for healthy women without a benign biopsy finding, those with a benign biopsy finding, and women with breast cancer, respectively (P<.001). For the 8307 women with complete information, radiologist 1, radiologist 2, and the AI CAD system flagged 8.5%, 6.8%, and 8.5% of examinations of women who had a prior benign biopsy finding. The AI score correlated only with increasing age of the women in the cancer group (P=.01).
    CONCLUSIONS: Compared to healthy women without a biopsy, the examined AI CAD system flagged a much larger proportion of women who had or would have a benign biopsy finding based on a radiologist\'s decision. However, the flagging rate was not higher than that for radiologists. Further research should be focused on training the AI CAD system taking prior biopsy information into account.
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  • 文章类型: Journal Article
    妊娠期糖尿病(GDM),导致怀孕期间葡萄糖不耐受的慢性病,在低收入和中等收入国家很常见,对母亲和胎儿都有健康风险。在埃塞俄比亚进行了有限的研究,特别是使用世界卫生组织2013年的通用筛查标准。因此,这项研究旨在评估在Hawassa镇公共卫生机构的产前(ANC)诊所就诊的女性中与GDM相关的危险因素,位于埃塞俄比亚的Sidama地区。
    4月1日至6月10日在埃塞俄比亚西达玛地区进行了一项无与伦比的病例对照研究,2023年,涉及510名孕妇。口服葡萄糖耐量试验(OGTT)用于基于更新的2013年WHO诊断标准的通用筛查和诊断GDM。数据分析包括描述性和分析性统计数据,P值低于0.1的变量被认为适合双变量分析。使用校正比值比(AOR)以95%置信区间和p值<0.05评估统计学显著性。
    该研究涉及633名参与者(255例病例和378名对照),导致100%的反应率,女性平均年龄为29.03岁。变量如:首次受孕年龄(AOR=0.97,P=0.01,95%CI(0.95,0.99)),城市居民(AOR=1.66,P<0.01,95%CI(01.14,2.40)),丧偶婚姻状况(AOR=0.30,P=0.02,95%CI(0.30,0.90)),平价(AOR=1.10,P<0.01,95%CI(1.03,1.17)),死产史(AOR=1.15,P=0.03,95%CI(1.04,2.30)),和既往剖宫产(AOR=1.86,P=0.01,95%CI(1.13,2.66))被确定为与GDM相关的独立因素。
    研究得出的结论是,初次受孕时的年龄等因素,居住地,婚姻状况,奇偶校验,剖腹产的历史,死产与GDM独立相关。令人惊讶的是,上臂圆周(MUAC),孕前BMI的代表,未被确定为GDM的危险因素。建议医疗保健提供者对孕妇进行全面的GDM风险评估,以识别和解决风险因素,并提出具体的筛查和干预策略。
    UNASSIGNED: Gestational diabetes mellitus (GDM), a chronic condition leading to glucose intolerance during pregnancy, is common in low- and middle-income countries, posing health risks to both the mother and fetus. Limited studies have been done in Ethiopia, especially using WHO\'s 2013 universal screening criteria. Therefore, this study aimed to evaluate the risk factors linked to GDM in women attending antenatal (ANC) clinics in Hawassa town public health institutions, located in the Sidama regional state of Ethiopia.
    UNASSIGNED: An Unmatched case-control study was carried out in Ethiopia\'s Sidama Region from April 1st to June 10th, 2023, involving 510 pregnant women. The Oral Glucose Tolerance Test (OGTT) was utilized for universal screening and diagnosing GDM based on the updated 2013 WHO diagnostic criteria. Data analysis included descriptive and analytical statistics, with variables having p-values below 0.1 deemed suitable for bivariate analysis. Statistical significance was assessed using the adjusted odds ratio (AOR) with a 95% confidence interval and a p-value < 0.05.
    UNASSIGNED: The study involved 633 participants (255 cases and 378 controls), resulting in a 100% response rate, with women having an average age of 29.03 years.Variables such as: age at first conception (AOR=0.97, P=0.01, 95% CI (0.95,0.99)), urban residency (AOR=1.66, P<0.01, 95% CI(01.14,2.40)), widowed marital status (AOR=0.30, P=0.02, 95% CI (0.30,0.90)), parity (AOR=1.10, P<0.01, 95% CI (1.03,1.17)), history of stillbirth (AOR=1.15, P=0.03, 95% CI(1.04,2.30)), and previous cesarean section (AOR=1.86, P=0.01, 95% CI (1.13,2.66)) were identified as independent factors associated with GDM.
    UNASSIGNED: The study concluded that factors like age at first conception, place of residence, marital status, parity, history of Caesarian section, and stillbirth were independently associated with GDM. Surprisingly, upper arm circumference (MUAC), a proxy for pre-gestational BMI, was not identified as a risk factor for GDM. It is recommended that healthcare providers conduct comprehensive GDM risk assessments in pregnant women to identify and address risk factors, and propose specific screening and intervention strategies.
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  • 文章类型: Journal Article
    已经开发了基于人工智能的病例发现策略,以系统地识别患有骨质疏松症或脆性骨折风险不同的个体。该策略有可能缩小初级保健中骨质疏松症治疗的关键护理差距,从而减轻脆性骨折带来的社会负担。
    背景:骨质疏松性骨折是发病的主要原因,在老年人中,残疾的先兆,失去独立性,生活质量差,过早死亡。尽管有害的健康影响,在世界范围内,骨质疏松症在很大程度上仍未被诊断和治疗不足。通过有组织的筛查或病例发现来鉴定有骨质疏松症相关骨折风险的受试者。在没有基于人群的筛查政策的情况下,当发生骨折或由于其他临床风险因素(CRF)导致的骨质疏松性骨折和通过双能X线吸收测量法(DXA)测量的局部骨矿物质密度(aBMD)时,将机会性识别出脆性骨折高危受试者.
    目的:本文描述了一种新的病例发现策略的发展,骨质疏松诊断和治疗途径(ODTP),能够识别患有骨质疏松症或脆性骨折风险不同的受试者。该策略基于专门设计的软件工具,名为“骨骼脆性查询”(BFQ),它分析了全科医师(GP)的电子健康记录(EHR)数据库,以系统地识别应进行DXA-BMD测量的个人,椎体骨折评估(VFA)和抗骨质疏松药物(AOM)。
    结论:通过BFQ工具进行ODTP是可行的,在常规临床实践中,方便且省时的全科医生骨质疏松症护理模式。它使全科医生能够将重点从做什么(临床指南)转移到如何在初级卫生保健环境中做到这一点。它还允许对脆性骨折进行一级和二级预防的系统方法,从而克服临床惯性,并有助于缩小初级保健中骨质疏松症管理的证据与实践之间的差距。
    An artificial intelligence-based case-finding strategy has been developed to systematically identify individuals with osteoporosis or at varying risk of fragility fracture. This strategy has the potential to close the critical care gap in osteoporosis treatment in primary care, thereby lessening the societal burden imposed by fragility fractures.
    BACKGROUND: Osteoporotic fractures represent a major cause of morbidity and, in older adults, a precursor of disability, loss of independence, poor quality of life and premature death. Despite the detrimental health impact, osteoporosis remains largely underdiagnosed and undertreated worldwide. Subjects at risk for osteoporosis-related fractures are identified either via organised screening or case finding. In the absence of a population-based screening policy, subjects at high risk of fragility fractures are opportunistically identified when a fracture occurs or because of other clinical risk factors (CRFs) for osteoporotic fracture and areal bone mineral density (aBMD) measured by dual-energy X-ray absorptiometry (DXA).
    OBJECTIVE: This paper describes the development of a novel case-finding strategy, named Osteoporosis Diagnostic and Therapeutic Pathway (ODTP), which enables to identify subjects with osteoporosis or at varying risk of fragility fracture. This strategy is based on a specifically designed software tool, named \"Bone Fragility Query\" (BFQ), which analyses the electronic health record (EHR) databases of General Practitioners (GPs) to systematically identify individuals who should be prescribed DXA-BMD measurement, vertebral fracture assessment (VFA) and anti-osteoporosis medications (AOM).
    CONCLUSIONS: The ODTP through BFQ tool is a feasible, convenient and time-saving osteoporosis model of care for GPs during routine clinical practice. It enables GPs to shift their focus from what to do (clinical guidelines) to how to do it in the primary health care setting. It also allows a systematic approach to primary and secondary prevention of fragility fractures, thereby overcoming clinical inertia and contributing to closing the gap between evidence and practice for the management of osteoporosis in primary care.
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  • 文章类型: Case Reports
    腹主动脉瘤,以持续扩张超过3厘米或主动脉直径的50%为特征,构成了巨大的风险,尤其是65岁以上的男性。尽管其潜在的无症状性质,由于死亡率上升,早期发现势在必行,破裂后达到90%。该病例涉及一名60岁男性,腹痛逐渐恶化,有心血管疾病史,高血压,和吸烟。初步检查尚无定论,需要先进的成像显示大的动脉瘤扩张。治疗措施包括血管内动脉瘤修复术(EVAR),强调及时干预的重要性。尽管有择期手术的风险,当动脉瘤直径超过43mm时,死亡率显著降低.这份报告强调初级保健医生需要进行彻底的筛查,识别风险因素,并促进高级成像的及时转诊。病例的关键教训在于腹主动脉瘤的综合管理,展示了挽救生命的干预措施的潜力以及早期发现在减轻与破裂相关的严重后果方面的关键作用。
    Abdominal aortic aneurysm, characterized by a persistent dilation exceeding 3 cm or 50% of the aortic diameter, poses a substantial risk, particularly in males over 65. Despite its potentially asymptomatic nature, early detection is imperative due to the elevated mortality rates, reaching 90% following rupture. The presented case involves a 60-year-old male with progressively worsening abdominal pain, a history of cardiovascular disease, hypertension, and smoking. Initial examinations were inconclusive, requiring advanced imaging that revealed a large aneurysmal dilation. Therapeutic measures included endovascular aneurysm repair (EVAR), highlighting the significance of timely intervention. Despite elective surgery risks, mortality rates decrease significantly when the aneurysm diameter surpasses 43 mm. This report stresses the need for primary care physicians to conduct thorough screenings, recognize risk factors, and facilitate prompt referrals for advanced imaging. The case\'s pivotal lesson lies in the comprehensive management of abdominal aortic aneurysm, showcasing the potential for life-saving interventions and the critical role of early detection in mitigating the severe consequences associated with its rupture.
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  • 文章类型: Case Reports
    由甲状腺素运载蛋白淀粉样原纤维在心脏中的聚集和沉积(ATTR-CM)引起的心肌病分为遗传性(ATTRv)和野生型(ATTRwt)形式。虽然ATTR-CM被认为是一种罕见的疾病,最近的研究表明,它是严重低估和老年患者心力衰竭的重要原因。家族性发生在ATTRv中是隐含的,但它不是在ATTRwt。
    我们报告了两个无关家庭的病例系列,每个家庭有两个兄弟被诊断为ATTRwt。基因检测未发现运甲状腺素蛋白基因的突变。家庭心电图筛查,超声心动图,基因检测并未引起一线家庭成员对ATTR的任何怀疑.
    家族性罕见,非遗传性疾病在统计学上不太可能。诊断为ATTRwt的两个不同家庭的两个兄弟姐妹强调ATTRwt的病因知之甚少,遗传因素不同于甲状腺素运载蛋白基因的突变,以及环境因素,可能有助于发病机制。识别这些因素可能会揭示新的治疗目标。为了进一步调查,临床医生需要意识到ATTRwt家族性发生的可能性.
    UNASSIGNED: Cardiomyopathy caused by aggregation and deposition of transthyretin amyloid fibrils in the heart (ATTR-CM) is divided into a hereditary (ATTRv) and a wild-type (ATTRwt) forms. While ATTR-CM has been considered a rare disease, recent studies suggest that it is severely underdiagnosed and an important cause of heart failure in elderly patients. Familial occurrence is implicit in ATTRv, but it is not expected in ATTRwt.
    UNASSIGNED: We report a case series of two unrelated families each with two brothers diagnosed with ATTRwt. Genetic testing did not reveal mutations in the transthyretin gene. Family screening with electrocardiogram, echocardiography, and genetic testing did not raise any suspicion of ATTR in first-line family members.
    UNASSIGNED: Familial occurrence of a rare, non-hereditary disease is statistically unlikely. Two siblings in two different families diagnosed with ATTRwt highlight that the aetiology of ATTRwt is poorly understood, and that genetic factors distinct from mutations in the transthyretin gene, as well as environmental factors, might contribute to the pathogenesis. Identifying such factors might reveal new therapeutic targets. To investigate this further, clinicians need to be aware of the possibility of familial occurrence of ATTRwt.
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  • 文章类型: Case Reports
    性别确认乳房切除术(GAM),与单纯乳房切除术(SM)相比,利用皮下和乳房组织的保存为变性患者产生美容上有利的结果,然而,并不能消除所有未来的恶性肿瘤风险。在这里,我们提供了一个跨男性患者的病例报告,该患者接受了GAM评估,随后发现患有恶性乳腺肿块。需要乳房和整形外科团队之间的多学科干预和协调。该患者在GAM之前的独特且罕见的乳腺癌表现强调了文献中先前详细病例的缺乏,并证明了在没有通用治疗指南的情况下,这些患者的治疗决策可能存在差异程度。
    患者是一名47岁的非裔美国跨性别男性,在GAM之前的常规术前乳房X线检查中发现乳房肿块3厘米。病理证实为II级浸润性导管癌(IDC),进一步的基因检测显示患者为BRCA2阳性。乳房和整形外科团队协调GAM,以最好地解决肿块,同时实现美容目标。该病例因术中冷标本乳头边缘阳性而并发,这就需要偏离进行双侧乳头移植的最初计划,取而代之的是利用左侧乳头多余的乳晕组织来重建对侧右侧乳头。患者和提供者在6周时的移植物存活和总体修复质量均令人满意。
    该案例突出了在考虑或进行GAM治疗患有潜在乳腺癌的跨男性患者时遇到的一些挑战。这些患者的手术考虑与因肿瘤乳房发现而接受乳房切除术的顺式个体不同。需要进一步的研究来更好地确定这些患者的理想手术方法和理想的随访筛查。
    UNASSIGNED: Gender-affirming mastectomy (GAM), in contrast to simple mastectomy (SM), utilizes preservation of subcutaneous and breast tissue to produce a cosmetically favorable result for transgender patients, however does not remove all future malignancy risk. Here we present a case report of a transmale patient who was evaluated for GAM and subsequently found to have a malignant breast mass, necessitating multi-disciplinary intervention and coordination between breast and plastic surgery teams. This patient\'s unique and rare presentation with breast cancer prior to GAM emphasized the paucity of previously detailed cases in the literature and demonstrated the likely degree of variability in decision-making for treatment of these patients without universal guidelines for management.
    UNASSIGNED: The patient is a 47-year-old African American transgender male who was found to have a 3-cm breast mass on routine pre-operative mammographic screening prior to GAM. Pathology confirmed grade II invasive ductal carcinoma (IDC) and further genetic testing showed the patient was BRCA2 positive. The breast and plastic surgery teams coordinated the GAM to best address the mass while achieving cosmetic goals. This case was complicated by positive nipple margins on intra-operative cold specimen, which necessitated deviation from the initial plan to perform bilateral nipple grafts, and instead utilized excess areolar tissue from the left nipple to reconstruct the contralateral right nipple. Graft survival and overall repair quality at 6 weeks was satisfactory to both patient and provider.
    UNASSIGNED: This case highlights several of the challenges encountered when considering or performing GAMs in transmale patients with underlying breast cancer. Surgical considerations for these patients differ from cisgender individuals undergoing mastectomy for oncologic breast findings. Further research is needed to better determine the ideal operative practice and ideal follow-up screening for these patients.
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