Misdiagnosis

误诊
  • 文章类型: Journal Article
    尽管正在进行筛查工作,结直肠癌(CRC)仍然是加拿大的主要死亡原因。这项研究的目的是更好地了解加拿大CRC患者在CRC诊断期间和之后与其家庭医生(FPs)的经验。通过在线问卷收集患者报告的数据,以了解他们的CRC诊断经验并确定潜在的护理差距。在整个患者的CRC诊断中导致挑战的各种因素(例如,延迟CRC诊断)使用描述性,定性,和推理分析。这些因素可以有针对性地优化CRC护理。这项研究发现,在175名受访者中,有40.6%的人在诊断前不知道CRC的以下至少一个方面:早发(EAO)。症状,和筛选程序。虽然84.6%的人在诊断前曾与家庭医生(FP)接触,只有17.7%被FPs诊断。与老年人相比,更多的年轻人经历了误诊并感到被解雇。当他们的FP向他们解释时,只有一半的人感到完全了解他们的诊断,而53.1%的人的诊断用通俗易懂的语言解释。向以患者为中心的护理过渡将促进诊断前的CRC意识,解决CRC护理管理中的差异(例如,解雇和支持),并适应年龄和健康素养相关的差距,从而改善患者的CRC护理途径。未来的研究应该调查FPs在检测CRC病例方面的经验,以开发教育资源和建议,加强早期检测并改善患者预后(1)。
    Despite ongoing screening efforts, colorectal cancer (CRC) remains a leading cause of death in Canada. The aim of this study was to better understand the experiences of Canadian CRC patients with their family practitioners (FPs) during and after their CRC diagnosis. Patient-reported data were collected through an online questionnaire to understand their CRC diagnosis experiences and identify potential gaps in care. Various factors contributing to challenges throughout a patient\'s CRC diagnosis (e.g., delayed CRC diagnosis) were determined using descriptive, qualitative, and inferential analyses. These factors could be targeted to optimize CRC care. This study found that 40.6% of the 175 respondents were unaware of at least one of the following aspects of CRC prior to their diagnosis: early-age onset (EAO), symptoms, and screening procedures. While 84.6% had access to a family physician (FP) before their diagnosis, only 17.7% were diagnosed by FPs. Higher proportions of younger individuals experienced misdiagnoses and felt dismissed compared to older individuals. Only half felt fully informed about their diagnosis when it was explained to them by their FP, while 53.1% had their diagnosis explained in plain language. Transitioning towards patient-centred care would promote pre-diagnosis CRC awareness, address differences in management of CRC care (e.g., dismissal and support), and accommodate for age and health-literacy-related disparities, thereby improving CRC care pathways for patients. Future research should investigate FPs experiences in detecting CRC cases to develop educational resources and recommendations, enhancing early detection and improving patient outcomes (1).
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  • 文章类型: Case Reports
    盆腔肿块通常起源于盆腔,通常与子宫有关。卵巢,或肠道疾病。本报告描述了我院诊断为腹膜后皮样囊肿的盆腔肿块患者的情况。我们对这个案例进行了分析和文献综述,减少误诊风险,加强腹膜后肿块的治疗。
    Pelvic masses frequently originate from the pelvic cavity and are often associated with uterine, ovarian, or intestinal disorders. This report describes the case of a patient with a pelvic mass diagnosed as a retroperitoneal dermoid cyst at our hospital. We analyzed this case and conducted a literature review, to mitigate the risk of misdiagnosis and enhance the treatment of retroperitoneal masses.
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  • 文章类型: Case Reports
    蛛网膜下腔出血是一种神经系统急症,其中动脉血积聚在蛛网膜下腔,脑动脉瘤破裂是最常见的原因。蛛网膜下腔出血在急诊科常被误诊,死亡率在8%至67%之间。这可能是偏头痛慢性的表现。与以前的头痛相比,严重程度或质量上的差异,和其他症状,尤其是颈部僵硬,还有癫痫,晕厥,局灶性神经功能缺损,呕吐是区分蛛网膜下腔出血和偏头痛的关键因素。我们报告了一例37岁的女性,既往有偏头痛史,在与恶心相关的枕骨中出现剧烈头痛的急性发作,呕吐,和畏光,其中头部的非对比计算机断层扫描显示涉及双侧大脑皮质沟和Sylvian裂的高密度,脑血管造影显示前交通动脉有复杂的动脉瘤。
    Subarachnoid hemorrhage is a neurological emergency in which arterial blood accumulates in the subarachnoid space with cerebral aneurysmal rupture being the most common cause. Subarachnoid hemorrhage is often misdiagnosed in the emergency department and mortality rates range from 8% to 67%. It may be the manifestation of the chronicity of the migraine. The difference in severity or quality compared to previous headaches, and other symptoms, particularly neck stiffness, but also seizure, syncope, focal neurological deficit, and vomiting are the key factors differentiating subarachnoid hemorrhage from the migraine. We report a case of a 37-year-old female with a previous history of migraines who presented with acute onset of excruciating headaches in the occiput associated with nausea, vomiting, and photophobia in whom a non-contrast computed tomography scan of the head showed hyper-densities involving the bilateral cerebral cortical sulcus and Sylvian fissure and the cerebral angiography showed a complex aneurysm in anterior communicating artery.
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  • 文章类型: Case Reports
    SWI/SNF相关的基质相关肌动蛋白依赖性染色质亚家族A成员4(SMARCA4)缺陷型肿瘤是罕见且高度侵袭性的肿瘤,其特征是SMARCA4表达丧失,子宫附件区SMARCA4缺陷型肿瘤尤为罕见.本研究描述了潍坊市人民医院收治的一名64岁女性(潍坊,中国)腹胀,并观察到子宫附件区域有腹水肿块。基于临床,影像学和病理结果,患者被诊断为SMARCA4缺陷型附件肿瘤伴腹水.对左右附件病变进行活检,患者接受化疗。贝伐单抗一个周期后,sindilizumab和卡铂,未进行进一步治疗.活检和化疗后,腹胀缓解,患者一般情况满意。患者获得随访,治疗3个月后死亡。值得注意的是,重要的是避免将这种肿瘤误诊为其他类型的附件子宫肿瘤,形态学和免疫组织化学特征可能有助于诊断子宫附件区SMARCA4缺陷型原发性肿瘤。
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4)-deficient tumors are rare and highly aggressive tumors characterized by a loss of SMARCA4 expression, and SMARCA4-deficient tumors in the adnexal area of the uterus are particularly rare. The present study describes the case of a 64-year-old woman who was admitted to Weifang People\'s Hospital (Weifang, China) with abdominal distension, and was observed to have a mass with ascites in the adnexal area of the uterus. Based on clinical, imaging and pathological findings, the patient was diagnosed with a SMARCA4-deficient adnexal tumor with ascites. Biopsy of the left and right adnexal lesions was performed, and the patient was administered chemotherapy. After one cycle of bevacizumab, sindilizumab and carboplatin, no further treatment was administered. After biopsy and chemotherapy, the abdominal distension was alleviated and the general condition of the patient was satisfactory. The patient was followed up and died 3 months after treatment. Notably, it is important to avoid misdiagnosing this tumor as other types of adnexal uterine tumors, and morphological and immunohistochemical features may be useful for diagnosing primary SMARCA4-deficient tumors in the adnexal area of the uterus.
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  • 文章类型: Case Reports
    莱姆病(LB)是一种复杂的蜱传疾病,表现多样。我们报告了一名55岁女性最初表现为孤立性面神经麻痹的LB脑膜炎与单纯疱疹病毒1(HSV-1)共感染的病例。这个案例说明了与莱姆共感染相关的多方面诊断挑战。它强调需要进行彻底的测试以识别所有潜在的病原体,以及区分真正的合并感染和偶然的HSV-1再激活的重要性。了解这些复杂性对于指导适当的治疗决策至关重要。
    Lyme borreliosis (LB) is a complex tick-borne illness with diverse presentations. We report a case of LB meningitis with herpes simplex virus-1 (HSV-1) co-infection in a 55-year-old woman initially presenting with isolated facial nerve palsy. This case illustrates the multifaceted diagnostic challenges associated with Lyme co-infections. It emphasizes the need for thorough testing to identify all potential pathogens and the importance of differentiating between true co-infection and incidental HSV-1 reactivation. Understanding these complexities is crucial for guiding appropriate treatment decisions.
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  • 文章类型: Case Reports
    在非免疫缺陷个体中,慢性活动性EB病毒(EBV)感染相关性肠炎(CAEAE)很少见。报告一例CAEAE,通过数据库搜索相关文章。临床表现,内镜检查结果,治疗策略,预后,并对CAEAE患者的随访结果进行分析。包括这份报告,文献中的7篇引文对27例CAEAE进行了描述。有21名男性和6名女性,平均年龄40岁.主要临床表现为发热(25/27),腹痛(14/27),腹泻(16/27),便血或血便(13/27),血常规检查中血红蛋白和红细胞计数下降(14/27)。炎症标志物升高,白细胞(WBC)计数,C反应蛋白(CRP)是常见的。凝血常异常。组织病理学通过原位杂交证实了受影响组织中EBV编码的小核RNA(EBER)。平均血清EBVDNA载量为6.3×10^5拷贝/mL。所有患者在内镜下都有不同程度的肠溃疡,溃疡和病理特征不明,误诊为炎症性肠病(IBD)。病程进展,后来并发肠出血,肠穿孔,感染性休克,急诊手术率很高。然而,手术后患者的状况往往没有改善,一些患者很快因再穿孔或大量便血死亡。激素和抗病毒治疗均无明显效果。手术和非手术生存率有显著差异(p<0.05)。6个月内死亡的患者比例高达63.6%(7/11)。CAEAE属于一组罕见的,困难的条件,有一个阴险的临床过程,病死率很高,并可能后来发展为EBV阳性淋巴增生性疾病(EBV-LPD),进而导致致癌作用。临床医生应提高对病因不明的肠道多发溃疡患者的认识,应注意EBV血清学,和组织学尽可能早地做出诊断。
    Chronic active Epstein-Barr virus (EBV) infection-associated enteritis (CAEAE) in nonimmunodeficient individuals is rare. To report a case of CAEAE, relevant articles were searched through databases. The clinical manifestations, endoscopic findings, strategies of treatment, prognoses, and follow-up results of CAEAE patients were analyzed. Including this report, seven citations in the literature provide descriptions of 27 cases of CAEAE. There were 21 males and six females, with a mean age of 40 years. The main clinical manifestations were fever (25/27), abdominal pain (14/27), diarrhea (16/27), hematochezia or bloody stools (13/27), and decreased hemoglobin and red blood cell counts in routine blood tests (14/27). Elevations in inflammatory markers, white blood cell (WBC) counts, and C-reactive protein (CRP) were common. Coagulation was often abnormal. Histopathology confirmed EBV-encoded small nuclear RNA (EBER) in the affected tissue via in situ hybridization. The average serum EBV DNA load was 6.3 × 10^5 copies/mL. All patients had varying degrees of intestinal ulcers endoscopically, and the ulcers and pathology were uncharacterized and misdiagnosed mostly as inflammatory bowel disease (IBD). The course of the disease was progressive and later complicated by intestinal bleeding, intestinal perforation, septic shock, and a high rate of emergency surgery. However, the conditions of the patients often did not improve after surgery, and some patients soon died due to reperforation or massive hematochezia. Hormone and antiviral treatment had no obvious effect. There was a significant difference in surgical and nonsurgical survival (p < 0.05). The proportion of patients who died within 6 months was as high as 63.6% (7/11). CAEAE belongs to a group of rare, difficult conditions, has an insidious clinical course, has a high case fatality rate, and may later develop into EBV-positive lymphoproliferative disorder (EBV-LPD), which in turn leads to carcinogenesis. Clinicians should raise awareness that in patients with multiple ulcers in the intestine of unknown etiology, attention should be paid to EBV serology, and histology to make the diagnosis as early as possible.
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  • 文章类型: Case Reports
    肉瘤样肾细胞癌(SRCC),肾细胞癌肉瘤样去分化的表现,其特点是侵袭性升高和预后严峻。通常,SRCC患者存在晚期或转移性疾病,生存率很少超过一年。在这项研究中,我们描述了一例SRCC,其特征是患者表现出右侧腹疼痛而无血尿。最初,影像学解释导致严重肾积水的诊断。随后,术后行开放性右肾切除术,病理证实为肉瘤样肾细胞癌。
    Sarcomatoid renal cell carcinoma (SRCC), a manifestation of sarcomatoid dedifferentiation in renal cell carcinoma, is characterized by elevated invasiveness and a grim prognosis. Typically, SRCC patients present with advanced or metastatic conditions and survival rates rarely extend beyond one year. In this study, we describe a case of SRCC characterized by the patient exhibiting right flank pain without hematuria. Initially, imaging interpretations led to a diagnosis of severe hydronephrosis. Subsequently, an open right nephrectomy post-surgery confirmed the pathology of sarcomatoid renal cell carcinoma.
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  • 文章类型: Case Reports
    不到26例报告描述了肥厚性扁平苔藓(HLP)误诊为皮肤鳞状细胞癌(cSCC)。很难区分HLP和cSCC,因为这两种情况具有许多临床和组织病理学特征。被误诊为cSCC的患者在接受HLP诊断并改善HLP定向治疗之前,通常会经历不必要的医疗和/或手术干预。这个病例系列突出了三名女性患者的病程,在2018年至2022年期间,转诊至一家大专院校,该院校最初在接受HLP诊断之前被误诊为cSCC.我们强调了HLP和cSCC的临床和组织病理学特征,HLP的发病机制,以及当前和新的HLP定向疗法。我们希望这个病例系列能提醒皮肤科医生,皮肤科医生,和皮肤病理学家意识到这一诊断挑战。
    Fewer than 26 case reports describe hypertrophic lichen planus (HLP) misdiagnosed as cutaneous squamous cell carcinoma (cSCC). It can be difficult to distinguish between HLP and cSCC, as these two conditions share many clinical and histopathological characteristics. Patients who are misdiagnosed with cSCC often undergo unnecessary medical and/or surgical interventions before receiving a diagnosis of HLP and improving on HLP-directed therapy. This case series highlights the course of three female patients, referred to a single tertiary institution between 2018 and 2022, who were initially misdiagnosed with cSCC before receiving a diagnosis of HLP. We have emphasized the clinical and histopathological distinguishing features between HLP and cSCC, the pathogenesis of HLP, and current and new HLP-directed therapy. We hope that this case series serves as a reminder to dermatologists, dermatologic surgeons, and dermatopathologists to be aware of this diagnostic challenge.
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  • 文章类型: Journal Article
    未诊断的潜在医疗状况可能导致许多患者被随访,多年来,通过诊断原发性精神疾病并接受不适当的治疗。这项研究的目的是确定最初被诊断为原发性精神疾病但后来症状归因于医疗状况的患者的患病率。还检查了这些患者的初始和最终诊断。
    在这项回顾性和描述性研究中,检查了2015年至2020年在加济大学医学院精神病住院患者诊所住院的1843名患者的记录。由于数据不足,13名患者被排除在研究之外。对30例诊断为潜在医疗状况的患者的数据进行了描述性统计。
    在后续行动中,49名患者的诊断发生了变化。19例患者的诊断与潜在的医疗状况无关,30人的诊断与潜在的医疗状况有关。5名(16.7%)患者,以前已知患有精神疾病,被发现患有老年痴呆症。脑占位性病变,额颞叶痴呆,癫痫,帕金森病,Arnold-Chiari畸形在阿尔茨海默病之后占6.7%(n=2)。患者的平均诊断时间为4.95年(标准差[SD]=7.78)。据观察,在修改诊断之前,精神药物(90%)的使用比非精神药物多。
    在诊断过程中,我们认为临床医生应该意识到潜在的潜在疾病,精神病学和神经学的多学科工作也至关重要.
    UNASSIGNED: Undiagnosed underlying medical conditions can cause many patients to be followed, for years, by a diagnosis of a primary psychiatric disorder and to receive inappropriate treatment. The aim of this study was to determine the prevalence of patients initially diagnosed with a primary psychiatric disorder but whose symptoms were later attributed to medical conditions. These patients\' initial and final diagnoses were also examined.
    UNASSIGNED: The records of 1843 patients hospitalized in Gazi University Faculty of Medicine Psychiatric Inpatient Clinic between 2015 and 2020 were examined in this retrospective and descriptive study. Thirteen patients were excluded from the study due to insufficient data. Descriptive statistics were performed on the data of 30 patients diagnosed with an underlying medical condition.
    UNASSIGNED: In follow-up, 49 patients\' diagnoses changed. 19 patients had a diagnosis unrelated to an underlying medical condition, and 30 had a diagnosis related to an underlying medical condition. Five (16.7%) of the patients, previously known to have psychiatric disorders, were found to have Alzheimer\'s disease. Brain space-occupying lesions, frontotemporal dementia, epilepsy, Parkinson\'s disease, and Arnold-Chiari malformation followed Alzheimer\'s disease at 6.7% (n = 2). The mean time until the diagnosis of the patients was revised was 4.95 years (standard deviation [SD] = 7.78). It was observed that psychotropic medications (90%) were used more than non-psychotropic drugs until the diagnosis was revised.
    UNASSIGNED: During the diagnostic process, we believe that clinicians should be aware of potential underlying medical conditions and that the multidisciplinary work of psychiatry and neurology is also crucial.
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  • 文章类型: Journal Article
    背景:肢端色素性黑色素瘤(AAMs),位于肢端部位的罕见黑素瘤子集,如手掌,鞋底,和下甲区,由于缺乏典型的色素沉着和通常是良性的临床表现,因此在诊断上具有挑战性。误诊很常见,导致治疗延误和可能更糟糕的结果。本系统综述旨在综合最初误诊为其他疾病的AAM病例的证据。为了更好地了解他们的临床和流行病学特征,诊断陷阱,和管理策略。
    方法:全面搜索MEDLINE/PubMed,EMBASE,和SCOPUS数据库进行到2024年3月。包括最初误诊为其他疾病的病例报告和小病例系列AAM。患者人口统计数据,临床表现,收集并分析诊断方法。
    结果:在确定的152条记录中,23条26例符合纳入标准。人口统计分析表明,性别分布似乎完全平衡,年龄范围为38至91岁。误诊包括不愈合的溃疡或创伤性病变(37.5%),良性增生性病变(29.2%)和感染性病变(20.8%)。脚是受影响最大的部位(53.8%)。值得注意的是,在50%的涉及上肢的病例中进行了组织学评估,相比之下,只有7.1%的病例涉及足部,0%的病例涉及足跟。这种差异表明不愿在下肢进行活检,这可能导致这些地区的误诊率较高。
    结论:活检在下肢病变诊断中的应用不足,是AAMs误诊和延误治疗的重要原因,尤其是在临床评估和皮肤镜检查尚无定论的情况下,可疑病变的活检是必不可少的。免疫组织化学和标记如PRAME在区分黑素瘤与其他恶性肿瘤如透明细胞肉瘤方面是关键的。这篇综述强调了提高警惕性和主动诊断方法的必要性,以提高早期检出率并改善预后结果。
    BACKGROUND: Acral amelanotic melanomas (AAMs), a rare subset of melanomas located on acral sites such as the palms, soles, and subungual areas, are diagnostically challenging due to their lack of typical pigmentation and often benign clinical appearance. Misdiagnosis is common, leading to delays in treatment and potentially worse outcomes. This systematic review aims to synthesise evidence on cases of AAM initially misdiagnosed as other conditions, to better understand their clinical and epidemiological characteristics, diagnostic pitfalls, and management strategies.
    METHODS: A comprehensive search of the MEDLINE/PubMed, EMBASE, and SCOPUS databases was conducted up to March 2024. Case reports and small case series of AAMs initially misdiagnosed as other conditions were included. Data on patient demographics, clinical presentation, and diagnostic methods were collected and analyzed.
    RESULTS: Of the 152 records identified, 26 cases from 23 articles met the inclusion criteria. A demographic analysis revealed that the gender distribution appears to be perfectly balanced, with an age range of 38 to 91 years. Misdiagnoses included non-healing ulcers or traumatic lesions (37.5%), benign proliferative lesions (29.2%) and infectious lesions (20.8%). The foot was the most affected site (53.8%). Notably, a histological evaluation was performed in 50% of cases involving the upper extremities, in contrast to only 7.1% of cases involving the foot and 0% of cases of the heel. This discrepancy suggests a reluctance to perform biopsies in the lower extremities, which may contribute to a higher misdiagnosis rate in these areas.
    CONCLUSIONS: The underutilization of biopsy in the diagnosis of lower extremity lesions contributes significantly to the misdiagnosis and delay in treatment of AAMs. Especially when the clinical assessment and dermoscopy are inconclusive, biopsies of suspicious lesions are essential. Immunohistochemistry and markers such as PRAME are critical in differentiating melanoma from other malignancies such as clear cell sarcoma. This review highlights the need for increased vigilance and a proactive diagnostic approach to increase early detection rates and improve prognostic outcomes.
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