atypical presentation

非典型演示
  • 文章类型: Case Reports
    带状疱疹(HZ)通常在有水痘感染史的成人和老年患者中潜伏水痘-带状疱疹病毒(VZV)重新激活后出现。符合疫苗接种计划且没有任何免疫受损状况的患者的原发性VZV感染很少见,重新激活导致HZ更加罕见。该病例报告详述了一个这样的例子,涉及一名13岁的有免疫能力且完全免疫的男性,尽管没有VZV感染史,以及这种不常见的演示的可能的解释机制。此病例报告有助于越来越多的有关儿科人群中非典型HZ表现的文献,而没有任何VZV感染或暴露史。
    Herpes zoster (HZ) typically presents following reactivation of latent varicella-zoster virus (VZV) in adult and geriatric patients with a history of prior varicella infection. Primary VZV infection in patients compliant with vaccine schedules and without any immunocompromising condition is rare, with reactivation leading to HZ being even rarer. This case report details one such example involving a 13-year-old immunocompetent and fully immunized male with HZ despite no history of VZV infection, as well as possible explanatory mechanisms for this uncommon presentation. This case report contributes to a growing body of literature on atypical HZ presentations in pediatric populations without any history of prior VZV infection or exposure.
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  • 文章类型: Journal Article
    诊断错误的持久性,尽管在医学知识和诊断方面取得了进步,强调了解非典型疾病表现及其对死亡率和发病率的贡献的重要性.人工智能(AI)特别是像GPT-4这样的生成式预训练变压器,有望提高诊断准确性,但在处理非典型演示文稿方面需要进一步探索。
    本研究旨在评估ChatGPT在对常见疾病的非典型表现进行鉴别诊断时的诊断准确性,重点关注模型在诊断过程中对患者病史的依赖。
    我们使用了《通才医学杂志》上的25个临床小插曲,描述了常见疾病的非典型表现。两名全科医生根据非典型性对病例进行了分类。然后根据所提供的临床信息使用ChatGPT进行鉴别诊断。测量了人工智能生成和最终诊断之间的一致性,重点关注排名靠前的疾病(前1名)和前5名的鉴别诊断(前5名)。
    ChatGPT的诊断准确性随着非典型表现的增加而降低。对于第1类(C1)案例,前1名的一致率为17%(n=1),前5名的一致率为67%(n=4)。类别3(C3)和类别4(C4)显示前1名的一致性为0%,前5名的比率明显较低,这表明处理高度非典型病例存在困难。χ2检验显示,不典型组(C1C2)和不典型组(C3C4)之间的前1个鉴别诊断准确性没有显着差异(χ²1=2.07;n=25;P=.13)。然而,在前5项分析中发现了显著差异,非典型病例较少,准确性较高(χ²1=4.01;n=25;P=0.048)。
    ChatGPT-4显示出作为诊断常见疾病的典型和轻度非典型表现的辅助工具的潜力。然而,其业绩下降的非典型性更大。研究结果强调,人工智能系统需要包含更广泛的语言能力。文化理解,和不同的临床场景,以提高在现实世界中的诊断效用。
    UNASSIGNED: The persistence of diagnostic errors, despite advances in medical knowledge and diagnostics, highlights the importance of understanding atypical disease presentations and their contribution to mortality and morbidity. Artificial intelligence (AI), particularly generative pre-trained transformers like GPT-4, holds promise for improving diagnostic accuracy, but requires further exploration in handling atypical presentations.
    UNASSIGNED: This study aimed to assess the diagnostic accuracy of ChatGPT in generating differential diagnoses for atypical presentations of common diseases, with a focus on the model\'s reliance on patient history during the diagnostic process.
    UNASSIGNED: We used 25 clinical vignettes from the Journal of Generalist Medicine characterizing atypical manifestations of common diseases. Two general medicine physicians categorized the cases based on atypicality. ChatGPT was then used to generate differential diagnoses based on the clinical information provided. The concordance between AI-generated and final diagnoses was measured, with a focus on the top-ranked disease (top 1) and the top 5 differential diagnoses (top 5).
    UNASSIGNED: ChatGPT\'s diagnostic accuracy decreased with an increase in atypical presentation. For category 1 (C1) cases, the concordance rates were 17% (n=1) for the top 1 and 67% (n=4) for the top 5. Categories 3 (C3) and 4 (C4) showed a 0% concordance for top 1 and markedly lower rates for the top 5, indicating difficulties in handling highly atypical cases. The χ2 test revealed no significant difference in the top 1 differential diagnosis accuracy between less atypical (C1+C2) and more atypical (C3+C4) groups (χ²1=2.07; n=25; P=.13). However, a significant difference was found in the top 5 analyses, with less atypical cases showing higher accuracy (χ²1=4.01; n=25; P=.048).
    UNASSIGNED: ChatGPT-4 demonstrates potential as an auxiliary tool for diagnosing typical and mildly atypical presentations of common diseases. However, its performance declines with greater atypicality. The study findings underscore the need for AI systems to encompass a broader range of linguistic capabilities, cultural understanding, and diverse clinical scenarios to improve diagnostic utility in real-world settings.
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  • 文章类型: Journal Article
    背景:糖尿病患者的自主神经系统功能障碍可导致心血管疾病的不典型表现,可被遗漏。我们旨在使用单光子发射计算机断层扫描(SPECT)评估患有非典型疼痛的糖尿病患者的心血管疾病(CAD),以确定上述疼痛是否反映了CAD。
    方法:患有非典型心脏症状的糖尿病患者被转诊到SPECT科。人口统计数据,如年龄,性别,糖尿病状态,和其他潜在的疾病被收集。然后进行心肌灌注扫描。记录结果,以无创方式评估心肌缺血的风险和冠状动脉受累程度。
    结果:该研究包括222名(177名女性)受试者,在阳性和阴性SPECT中平均年龄为63.01±11.62和59.41±9.19,分别。最常见的症状为不典型胸痛(51.8%),其次是呼吸急促(50.5%),恶心,和晕厥(0.9%)。心脏参数,例如求和压力分数(SSS),总休息分数(SRS),应力总灌注不足(TPD-s),静息总灌注不足(TPD-r),在冠状动脉受累组中明显高于对照组(P<0.001)。然而,射血分数(EF),舒张末期容积(EDV),和收缩末期容积(ESV)参数没有(分别为P=0.328、0.351和0.443)。
    结论:糖尿病的存在不需要任何额外的诊断测试,除了普通人群所需的诊断测试之外,并且可以遵循类似于普通人群的诊断过程。
    BACKGROUND: Autonomic nervous system dysfunction in diabetic patients can result in an atypical presentation of cardiovascular disease that can be missed. We aimed to use single-photon emission computed tomography (SPECT) to assess cardiovascular disease (CAD) in diabetic patients with atypical pain to determine whether the pain above reflects the CAD.
    METHODS: Diabetic patients with atypical cardiac symptoms were referred to the SPECT department. Demographic data such as age, gender, diabetes status, and other underlying diseases were gathered. A myocardial perfusion scan was then performed. The results were recorded to evaluate the risk of myocardial ischemia and the degree of coronary artery involvement in a non-invasive manner.
    RESULTS: The study included 222 (177 female) subjects with mean ages of 63.01±11.62 and 59.41±9.19 in positive and negative SPECT, respectively. The most common symptoms were atypical chest pain (51.8%), followed by shortness of breath (50.5%), nausea, and syncope (0.9%). Cardiac parameters, such as the summed stress score (SSS), summed rest score (SRS), total perfusion deficit in stress (TPD-s), total perfusion deficit in rest (TPD-r), were significantly higher in the group with coronary artery involvement (P<0.001). However, ejection fraction (EF), end-diastolic volume (EDV), and end-systolic volumes (ESV) parameters were not (P=.0.328, 0.351, and 0.443, respectively).
    CONCLUSIONS: The mere presence of diabetes does not necessitate any additional diagnostic tests beyond those required for the general population, and it is possible to follow a diagnostic course similar to that of the general population.
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  • 文章类型: Case Reports
    中毒性巨结肠表示结肠突然非阻塞性扩张,伴有全身毒性症状。死亡率可高达7.9%。虽然主要与慢性肠道疾病有关,由于滥用广谱抗生素,艰难梭菌的发病率激增.在大多数情况下,手术干预是必要的。在这里,我们说明了一个50岁的女性出现持续9小时的发作性胃痛的情况,呕吐,和水汪汪的排便,没有腹膜刺激的发现,也没有慢性肠道炎症的病史。在某些情况下,有毒巨结肠可能非典型地表现出来,强调进行全面病史和临床评估的重要性。此外,必须征求相关的临床旁检查,以从整体上解决患者问题并促进良好的临床结局。
    Toxic megacolon denotes an abrupt non-obstructive distension of the colon, accompanied by systemic signs of toxicity. Mortality rates can soar as high as 7.9%. While primarily linked with chronic bowel conditions, the incidence attributed to Clostridioides difficile has surged due to the indiscriminate use of broad-spectrum antibiotics. Surgical intervention becomes necessary in the majority of cases. Herein, we illustrate the case of a 50-year-old female presenting with episodic epigastric pain lasting 9 h, vomiting, and watery bowel movements, devoid of peritoneal irritation findings and lacking a history of chronic intestinal inflammation. Under certain circumstances, toxic megacolon may manifest atypically, underscoring the importance of conducting a comprehensive medical history and clinical assessment. Moreover, it is imperative to solicit pertinent paraclinical investigations to address the patient holistically and foster a favorable clinical outcome.
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  • 文章类型: Case Reports
    乳腺癌被认为是全世界最常见的癌症之一。乳腺癌最常见的转移部位是淋巴结,骨头,肺,大脑,还有肝脏.胃肠道的参与并不常见,和阑尾转移是罕见的。我们报告了一例43岁女性,既往无恶性肿瘤史,出现急性阑尾炎并接受腹腔镜阑尾切除术,最终的组织病理学评估显示转移性乳腺癌。
    Breast cancer is considered one of the most common cancers worldwide. The most common sites for breast cancer to metastasize are the lymph nodes, bones, lungs, brain, and liver. Involvement of the gastrointestinal tract is uncommon, and metastasis to the appendix is rare. We report a case involving a 43-year-old woman with no previous history of malignancy who presented with acute appendicitis and underwent laparoscopic appendectomy, with the final histopathological assessment revealing metastatic breast cancer.
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  • 文章类型: Case Reports
    这份儿科病例报告强调了在表现为非典型特征的患者中,临床高度怀疑结节性多动脉炎(PAN)的重要性。如偏头痛和皮下结节。重要的是,它强调了对链球菌感染与皮肤PAN之间潜在关系的关注。早期识别和迅速,积极治疗至关重要,因为如果不进行管理,PAN可能会危及生命。此病例强调需要采用多学科方法来有效识别和管理儿科人群中这种罕见的血管炎疾病。
    结节性多动脉炎(PAN)是一种罕见且危及生命的血管炎,临床表现多样,构成诊断挑战。早期识别和及时干预对于防止器官损伤至关重要。我们介绍了一个8岁男孩的病例,他表现出包括偏头痛在内的非典型症状,肌痛,数字变色和缺血变化,和皮下结节。排除了对化脓性关节炎的最初担忧。综合评估显示炎症标志物升高,皮肤活检证实为活动性白细胞碎裂性血管炎,高度提示PAN的诊断。值得注意的是,ASO滴度升高提示可能并发链球菌感染.大剂量阿司匹林的积极治疗方法,类固醇,甲氨蝶呤,鉴于患者症状的严重程度和疾病过程的性质,托珠单抗是合理的。此病例强调了在表现出非典型特征的儿童的鉴别诊断中考虑PAN的重要性。早期诊断和及时干预,包括解决潜在的传染性触发因素,对于儿科PAN的最佳结果至关重要。
    UNASSIGNED: This pediatric case report underscores the importance of maintaining a high clinical suspicion for polyarteritis nodosa (PAN) in patients presenting with atypical features, such as migratory arthritis and subcutaneous nodules. Importantly, it highlights the focus on the potential relationship between streptococcal infection and cutaneous PAN. Early recognition and prompt, aggressive treatment is critical, as PAN can be a life-threatening condition if left unmanaged. This case emphasizes the need for a multidisciplinary approach to effectively identify and manage this rare vasculitis disorder in the pediatric population.
    UNASSIGNED: Polyarteritis nodosa (PAN) is a rare and life-threatening vasculitis with diverse clinical presentations, posing a diagnostic challenge. Early recognition and prompt intervention are crucial to prevent organ damage. We present the case of an 8-year-old boy who exhibited atypical symptoms including migratory arthritis, myalgia, digital discoloration and ischemic changes, and subcutaneous nodules. Initial concerns for septic arthritis were ruled out. A comprehensive evaluation revealed elevated inflammatory markers and a confirmatory skin biopsy demonstrating active leukocytoclastic vasculitis, are highly suggestive of a diagnosis of PAN. Notably, elevated ASO titers suggested a possible concurrent streptococcal infection. The aggressive treatment approach with high-dose aspirin, steroids, methotrexate, and tocilizumab is justified given the severity of the patient\'s symptoms and the nature of the disease process. This case underscores the importance of considering PAN in the differential diagnosis for children presenting with atypical features. Early diagnosis and prompt intervention, including addressing potential infectious triggers, are crucial for optimal outcomes in pediatric PAN.
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  • 文章类型: Case Reports
    急性呼吸窘迫综合征(ARDS)在重症监护中提出了巨大的挑战,往往导致高死亡率,特别是在严重的情况下或那些因先前存在的疾病而加剧的情况下。尽管重症监护取得了实质性进展,ARDS的异质性需要细微差别的临床方法。ARDS通常通过临床评估来诊断,射线成像,和实验室测试,以及急性发作,影像学检查双侧肺浸润,并且动脉血中的氧分压(PaO2)/吸气氧浓度分数(FiO2)比率小于300mmHg。管理涉及改善氧合和提供机械通气以辅助呼吸的测量。ARDS的典型表现为弥漫性肺受累,对称地影响多个瓣。这里,我们报告了一个不寻常的ARDS病例,一名53岁的女性在无反应状态下被带入医院,表现出缺氧和低血压,需要插管。随后的成像显示了一个独特的模式:保留了右中叶,与传统的弥漫性肺部疾病不同。这一案例强调了临床警惕性和适应性的必要性,因为这种非典型的表现会混淆诊断和管理,带来独特的临床挑战。这个案例强调了识别ARDS的不同表现的重要性。此外,了解肺叶保留背后的机制可以更深入地了解疾病异质性,并指导量身定制的治疗方法.对这些不常见的演示文稿进行进一步研究的必要性很明显,因为这对于改善更广泛的ARDS患者的结局可能至关重要。
    Acute respiratory distress syndrome (ARDS) presents a formidable challenge in critical care, often resulting in high mortality rates, particularly in severe cases or those compounded by preexisting conditions. Despite substantial advancements in critical care, the heterogeneous nature of ARDS necessitates nuanced clinical approaches. ARDS is generally diagnosed through clinical evaluation, radiographic imaging, and laboratory tests, as well as acute onset, bilateral lung infiltrates on imaging, and a partial pressure of oxygen in arterial blood (PaO2)/fraction of inspiratory oxygen concentration (FiO2) ratio of less than 300 mmHg. Management involves measurements to improve oxygenation and provide mechanical ventilation to assist breathing. The typical manifestation of ARDS is diffuse lung involvement, which affects multiple lobes symmetrically. Here, we report an unusual case of ARDS in a 53-year-old female who was brought into the hospital in an unresponsive state, exhibiting hypoxic and hypotension requiring intubation. Subsequent imaging revealed a distinctive pattern: the preservation of the right middle lobe, diverging from the conventional diffuse pulmonary affliction. This case underscores the need for clinical vigilance and adaptability, as such atypical presentations can confound diagnosis and management, posing unique clinical challenges. This case highlights the importance of recognizing ARDS\' diverse presentations. Moreover, understanding the mechanisms behind the lobar sparing could provide greater insight into the disease heterogeneity and guide tailored therapeutic approaches. The imperative for further research into these uncommon presentations is clear, as it may be vital to improving outcomes for a broader spectrum of ARDS patients.
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  • 文章类型: Case Reports
    汉坦病毒感染是新出现的人畜共患病。在亚洲,汉坦病毒通常表现为肾综合征出血热(HFRS),明显发烧,血小板减少和急性肾损伤。在包括斯里兰卡在内的亚洲,有一些非典型临床病程伴心肺症状的病例。这里,我们报告一例汉坦病毒感染,伴有非典型心肺综合征样疾病,并有Puumala/Puumala样病毒的血清学证据.
    Hantavirus infections are emerging zoonoses. In Asia, the hantavirus commonly manifests as haemorrhagic fever with renal syndrome (HFRS), apparent with fever, thrombocytopenia and acute kidney injury. There are a few cases with the atypical clinical course with cardiopulmonary symptoms in Asia including Sri Lanka. Here, we report a case of hantavirus infection with an atypical cardiopulmonary syndrome-like illness with serological evidence of the Puumala/Puumala-like virus.
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  • 文章类型: Case Reports
    背景:Castleman病(CD)是一种罕见的良性疾病,其特征是淋巴组织异常生长。它可以分为影响单个淋巴结区域的单中心CD(UCD)或涉及多个区域的多中心CD(MCD)。虽然UCD通常发生在纵隔,MCD与炎症症状和异常实验室发现相关。我们介绍了一个年轻的叙利亚男性骨盆UCD的病例,表现出不寻常的症状。手术切除导致完全恢复。
    方法:一名27岁男性在常规超声检查中发现盆腔肿块。症状包括发烧,疲劳,减肥,下肢麻木。实验室分析显示淋巴细胞减少。影像学发现腹膜后盆腔肿块,引起淋巴瘤的担忧。手术切除证实Castleman病,特别是透明血管变体,消除恶性肿瘤的担忧。手术后,患者表现出完全康复,淋巴细胞计数正常化,症状消退,确认治疗的有效性。
    结论:Castleman病(CD)的特征是淋巴组织异常生长。它呈现为单中心(UCD)或多中心(MCD)形式。UCD病例通常无症状或显示压缩症状,由于质量效应,而MCD与全身症状有关。估计UCD发病率为每百万人年16例,诊断时的中位年龄约为30-34岁。组织学上,UCD分为透明血管(HV)和浆细胞(PC)变体。在这种情况下,系统症状和淋巴细胞减少症偏离典型的UCD表现,导致最初的淋巴瘤怀疑。手术干预有助于恢复,无需辅助治疗。
    结论:这项研究强调了Castleman病(CD)的表现,区分单中心(UCD)和多中心(MCD)形式对于准确管理至关重要。它强调了不典型的盆腔UCD表现和成功的手术治疗的重要性。
    BACKGROUND: Castleman Disease (CD) is a rare benign disorder characterized by abnormal lymphoid tissue growth. It can be classified as unicentric CD (UCD) affecting a single lymph node region or multicentric CD (MCD) involving multiple regions. While UCD typically occurs in the mediastinum, MCD is associated with inflammatory symptoms and abnormal lab findings. We present a case of a young Syrian male with pelvic UCD, exhibiting unusual symptoms. Surgical excision led to complete recovery.
    METHODS: A 27-year-old male presented with a well-defined pelvic mass discovered during routine ultrasonography. Symptoms included fever, fatigue, weight loss, and lower extremity numbness. Laboratory analysis revealed lymphocytopenia. Imaging identified a retroperitoneal pelvic mass, raising concerns of lymphoma. Surgical resection confirmed Castleman disease, specifically the hyaline vascular variant, dispelling malignancy concerns. Post-surgery, the patient demonstrated complete recovery, with normalized lymphocyte count and resolution of symptoms, affirming the effectiveness of the treatment.
    CONCLUSIONS: Castleman Disease (CD) is characterized by abnormal lymphoid tissue growth. It presents as Unicentric (UCD) or Multicentric (MCD) forms. UCD cases are usually asymptomatic or show compressive symptoms due to mass effect, while MCD is associated with systemic symptoms. The estimated UCD incidence is 16 cases per million person-years, with median age at diagnosis around 30-34 years. Histologically, UCD is categorized into hyaline vascular (HV) and plasma cell (PC) variants. In this case, systemic symptoms and lymphocytopenia deviated from typical UCD presentation, leading to initial lymphoma suspicions. Surgical intervention facilitated recovery without adjuvant therapies.
    CONCLUSIONS: This study emphasizes the spectrum of Castleman Disease (CD) manifestations, distinguishing Unicentric (UCD) and Multicentric (MCD) forms crucial for accurate management. It highlights atypical pelvic UCD presentation and successful surgical treatment\'s importance.
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  • 文章类型: Journal Article
    背景:钩端螺旋体病具有高度可变的临床表现,影响不同个体的不同器官系统。表现范围从无症状或轻度疾病到与多器官衰竭和更高死亡率相关的严重疾病。由于缺乏诊断方式和临床医生的怀疑较少,钩端螺旋体病被高度低估。
    方法:我们提出了12例单中心回顾性病例系列,其中包括各种常见和不常见的情况,这种疾病可以出现,并且由于缺乏怀疑而可能被错过。该研究包含个体患者特征,包括人口统计学,实验室,临床,和治疗数据。使用p值分析这些变量与死亡率之间的关联,并描述结果。P值<0.05被认为是统计学上显著的。
    结果:共12例纳入研究。男女比例为3:1。死亡病例的平均年龄(37.75±9.81岁)高于康复病例(34.25±14.09)。比如酗酒史,慢性肝病(CLD)的存在,黄疸,急性肾功能衰竭,透析的要求,重症监护和重症监护要求与死亡风险增加显著相关(比值比>1,p值<0.05).最常见的症状是发热11例(91.66%)。黄疸和肾衰竭与死亡显著相关(比值比1.2,p值0.04)。重症监护治疗的需求(比值比2.1,p值0.05)和透析(比值比39.66,p值0.03)也与死亡显着相关。接受联合抗生素治疗的患者组的死亡百分比较低。
    结论:钩端螺旋体病在不同个体中有不同的表现,由于缺乏特定的体征和症状,可能会漏诊。涉及多个器官的严重疾病和先前存在的合并症与较高的死亡率相关。及时诊断和治疗对于降低死亡率和增加生存率是必要的。
    BACKGROUND: Leptospirosis presents with highly variable clinical manifestations affecting different organ systems in different individuals. The presentation ranges from an asymptomatic or mild disease to a severe disease associated with multiorgan failure and higher mortality. Leptospirosis is highly underreported due to a lack of diagnostic modalities and less suspicion among clinicians.
    METHODS: We present this single-center retrospective case series of 12 cases, which include various common and uncommon scenarios by which the disease can present and can be missed due to lack of suspicion. The study contains individual patient characteristics including demographic, laboratory, clinical, and treatment data. The association between these variables and mortality was analyzed using p-values and results were described. A p-value of<0.05 was considered statistically significant.
    RESULTS: A total of 12 cases were included in the study. The male-to-female ratio was 3:1. The mean age was higher (37.75±9.81 years) in cases who died than those who recovered (34.25±14.09). Factors like history of alcoholism, presence of chronic liver disease (CLD), jaundice, acute renal failure, requirement of dialysis, and requirement of intensive care were significantly associated with increased risk of death (odds ratio >1, p-value <0.05). The most common symptom of presentation was fever in 11 (91.66%) cases. Jaundice and renal failure were significantly associated with death (odds ratio 1.2, p-value 0.04). The requirement of intensive care treatment (odds ratio 2.1, p-value 0.05) and dialysis (odds ratio 39.66, p-value 0.03) were also significantly associated with death. The percentage of death was lower in the group of patients who received combination antibiotic therapy.
    CONCLUSIONS: Leptospirosis has varied presentations in different individuals and the diagnosis can be missed due to lack of specific signs and symptoms. Severe diseases involving multiple organs and preexisting comorbidities are associated with higher mortality rates. Timely diagnosis and treatment are necessary to reduce mortality and increase survival.
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