Missed Diagnosis

漏诊
  • 文章类型: Case Reports
    我们提出了在肾移植前无多发性骨髓瘤病史的患者归因于骨髓瘤铸型肾病的原发性同种异体肾移植功能障碍的不寻常病因。病人,一个54岁的女人,在移植前因糖尿病肾病接受了6个月的血液透析;她在移植后立即出现了移植物功能障碍。移植物活检标本符合骨髓瘤铸型肾病,她接受了硼替佐米的治疗,环磷酰胺,还有地塞米松.移植后3个月,她实现了完全的血液学反应,并恢复了出色的移植物功能。然后患者在肾移植后8个月接受自体干细胞移植。据我们所知,这是关于化疗后成功移植结果的第二篇报道,也是单克隆疾病缓解后接受自体干细胞移植治疗的第一篇报道。
    We present an unusual etiology of primary renal allograft dysfunction attributed to myeloma cast nephropathy in a patient with no history of multiple myeloma before kidney transplant. The patient, a 54-year-old woman, had been on hemodialysis for 6 months before transplant for presumed diabetic nephropathy; she developed graft dysfunction immediately after transplant. Graft biopsy specimens were consistent with myeloma cast nephropathy, and she was treated with bortezomib, cyclophosphamide, and dexamethasone. She achieved a complete hematological response and regained excellent graft function 3 months after transplant. The patient then received autologous stem cell transplant 8 months after kidney transplant. To our knowledge, this is the second report of a successful graft outcome after chemotherapy and the first report treated with autologous stem cell transplantation after remission of monoclonal disease.
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  • 文章类型: Case Reports
    诸如宫内节育器(IUD)之类的长效宫内避孕药由于其长期疗效高,因此很受欢迎。易用性,和可逆性。虽然罕见,这些装置会引起子宫穿孔等并发症。体征和症状通常是模糊的腹部和骨盆疼痛,患者很少出现手术紧急情况。子宫穿孔可在放置宫内节育器时立即发生或以延迟的方式发生。此病例详细说明了放置后两年IUD子宫穿孔伴腹部迁移的例子。患者的病史因以下独特事实而变得复杂:在放置宫内节育器后,她怀孕并进行足月阴道分娩。她的怀孕使医疗保健提供者从以前的遭遇中相信宫内节育器已被自发驱逐。通过计算机断层扫描(CT)在患者的左下腹腔中发现了IUD,并通过手术顺利取出。
    Long-acting intrauterine contraceptives such as intrauterine devices (IUD) are popular due to their high rates of long-term efficacy, ease of use, and reversibility. Though rare, these devices can incur complications such as uterine perforation. Signs and symptoms are often vague abdominal and pelvic pain, and patients rarely present with a surgical emergency. This uterine perforation can happen immediately upon IUD placement or in a delayed manner. This case details an example of an IUD uterine perforation with abdominal migration two years after placement. The patient\'s history is complicated by the unique fact that she became pregnant and carried her pregnancy to a term vaginal delivery after the IUD had been placed. Her pregnancy led healthcare providers from previous encounters to believe that the IUD had been spontaneously expelled. The IUD was identified in the patient\'s left lower abdominal cavity via computed tomography (CT) and was surgically removed uneventfully.
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  • 文章类型: Case Reports
    背景技术下腔静脉(IVC)损伤是具有34-70%的高死亡率的潜在致命性损伤。在患者病情稳定的情况下,计算机断层扫描(CT)诊断是标准。CT表现包括IVC周围腹膜后血肿,造影剂外渗,IVC形态异常。我们报告了一例IVC损伤,在术前CT检查中无法诊断,并且在剖腹手术中无法立即检测到。案例报告一名73岁的妇女在家中用刀刺伤了自己的脖子和腹部。当她到达我们医院时,我们在她的腹部发现了几厘米长的刺伤,在她的脖子上发现了大约15厘米长的伤口。我们启动了大量输血方案,因为她处于出血性休克状态。输血后血压稳定,对比增强计算机断层扫描(CT)显示腹腔中有少量液体。一位耳鼻喉科医生成功进行了引流和止血,并进行了剖腹手术。确定横结肠的胃损伤和肠系膜损伤并用缝线修复。随后对腹膜后的搜索显示,下腔静脉(IVC)受伤导致大量出血。IVC已修复。术后进展良好,她受伤65天后出院。结论我们经历了一例穿透性IVC损伤,这是一种罕见的创伤。隐匿性IVC损伤可能无法通过术前CT检查或剖腹手术发现。
    BACKGROUND Inferior vena cava (IVC) injury is a potentially fatal injury with a high mortality rate of 34-70%. In cases in which the patient\'s condition is stable, diagnosis by computed tomography (CT) is the criterion standard. Findings on CT include retroperitoneal hematoma around the IVC, extravasation of contrast medium, and abnormal morphology of the IVC. We report a case of an IVC injury that could not be diagnosed by preoperative CT examination and could not be immediately detected during laparotomy. CASE REPORT A 73-year-old woman had stabbed herself in the neck and abdomen at home using a knife. When she arrived at our hospital, we found a stab wound several centimeters long on her abdomen and a cut approximately 15 cm long on her neck. We activated the massive transfusion protocol because she was in a condition of hemorrhagic shock. After blood transfusion and blood pressure stabilization, contrast-enhanced computed tomography (CT) revealed a small amount of fluid in the abdominal cavity. An otorhinolaryngologist performed successful drainage and hemostasis, and a laparotomy was performed. Gastric injury and mesentery injury of the transverse colon were identified and repaired with sutures. Subsequent search of the retroperitoneum revealed massive bleeding from an injury to the inferior vena cava (IVC). The IVC was repaired. Postoperative progress was good, and she was discharged from the hospital 65 days after her injuries. CONCLUSIONS We experienced a case of penetrating IVC injury, which is a rare trauma. Occult IVC injury may escape detection by preoperative CT examination or during laparotomy.
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  • 文章类型: Journal Article
    结核病(TB)是撒哈拉以南非洲(SSA)死亡的主要传染性原因;该地区结核病的高患病率是由于人类免疫缺陷病毒(HIV)合并感染。尽管出现了诊断结核病的方法,在HIV感染患者中,未确诊的结核病相关死亡人数仍然很高.本系统综述旨在从验尸研究中描述错过的结核病例。这篇综述介绍了结核病漏诊的负担,并强调了改进结核病病例发现策略的必要性。特别是在高危人群中,早期结核病治疗开始与世界卫生组织的结束结核病战略保持一致。我们搜索了PubMed,科克伦,WebofScience,和非洲期刊在线研究,使用以下关键术语调查验尸后遗漏的结核病例:验尸,结核病诊断,和艾滋病毒;我们纳入了1980年的横断面和队列,这些队列在SSA中在成年人群中进行。作者使用系统评论和荟萃分析指南的首选报告项目进行报告,纳入研究的质量采用纽卡斯尔-渥太华量表进行观察性研究,采用STATA17.0软件进行分析。本研究已在国际前瞻性系统评价登记册中注册,注册号为CRD42024507515。6025名参与者的死后漏诊结核病的合并患病率为27.13%(95%置信区间[CI]=14.52-41.89),异质性较高,为98.65%(P<0.001)。在纳入的研究中,患病率差异很大,范围从一般人群的1.21%(95%CI=0.93-1.59)到HIV感染者(PLWHIV)的66.67%(95%CI=50.98-79.37)。目前的文献表明,SSA是一个漏诊结核病例患病率很高的地区,但各国之间差异很大。此外,这项研究证实了PLWHIV内大量漏诊的TB感染.这些结果突出了有针对性的筛查和诊断策略以及相关政策的迫切需要。
    Tuberculosis (TB) is the leading infectious cause of mortality in sub-Saharan Africa (SSA); the high prevalence of TB in this region is due to human immunodeficiency virus (HIV)-coinfection. Despite the advent of modalities to diagnose TB, undiagnosed TB-related deaths among HIV-infected patients remain significantly high. This systematic review aims at characterizing missed TB cases from postmortem studies. This review informs on the burden of TB missed diagnosis and highlights the need of improving TB case-finding strategies, especially among the high-risk groups and early TB therapy initiation to keeping in with the World Health Organization\'s end TB strategy. We searched PubMed, Cochrane, Web of Science, and African journals online for studies that looked into missed TB cases following postmortem using the following key terms: postmortem, TB diagnosis, and HIV; we included cross-sectional and cohorts from 1980 in the English language that were carried out in SSA among adults\' population. Authors used the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines for reporting, the quality of the included studies was assessed using the Newcastle-Ottawa Scale for observational studies, and STATA 17.0 software was used for analysis. This study was registered in the International Prospective Register of Systematic Reviews with registration number CRD42024507515. The combined prevalence of postmortem missed TB diagnosis among the 6025 participants was 27.13% (95% confidence interval [CI] =14.52-41.89), with a high level of heterogeneity at 98.65% (P < 0.001). The prevalence varied significantly across the included studies, ranging from 1.21% (95% CI = 0.93-1.59) in the general population to 66.67% (95% CI = 50.98-79.37) in people living with HIV (PLWHIV). This current literature suggests that SSA is a region with a high prevalence of missed TB cases but with significant variations between countries. In addition, this study confirms a high number of missed TB infections within the PLWHIV. These results highlight the immediate need for targeted screening and diagnosis strategies and relevant policies.
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  • 文章类型: Journal Article
    背景:漏诊早期胃癌(MEGC)在食管胃十二指肠镜检查(EGD)期间普遍存在,这是检测早期胃癌(EGC)的一线推荐策略。因此,我们探讨了MEGC和不同类型MEGC的风险因素,基于内窥镜切除的人群。
    方法:本回顾性研究,病例对照研究在南京鼓楼医院(NJDTH)进行。我们纳入了在筛查EGD期间被诊断为EGC的患者,进行了内镜切除术,并于2014年1月至2021年12月在NJDTH经术后病理证实,并根据漏诊的根本原因不同将其分为不同类型。单变量,多变量,亚组和倾向评分分析用于探索MEGC和不同类型MEGC的危险因素.
    结果:共有447名患者,包括345例最初检测到的早期胃癌(IDEGC)和102例MEGC,包括在这项研究中。较大大小(≥1cm)(OR0.45,95%CI0.27-0.74,P=0.002)和粘膜下层浸润深度(OR0.26,95%CI0.10-0.69,P=0.007)与MEGC呈负相关。使用镇静(OR0.32,95%CI0.20-0.52,P<0.001)和更长的观察时间(OR0.60,95%CI0.37-0.96,P=0.034)对MEGC具有保护作用。
    结论:较小和更浅表的EGC病变更容易误诊。在EGD期间使用镇静和延长观察时间有助于减少MEGC的发生。
    BACKGROUND: Missed early gastric cancer (MEGC) is prevalent during esophagogastroduodenoscopy (EGD), which is the first-line recommended strategy for detecting early gastric cancer (EGC). Hence, we explored the risk factors for MEGC and different types of MEGC, based on the endoscopic resected population.
    METHODS: This retrospective, case-control study was conducted at Nanjing Drum Tower Hospital (NJDTH). We included patients who were diagnosed with EGC during screening EGD, underwent endoscopic resection, and were confirmed by postoperative pathology at the NJDTH from January 2014 to December 2021, and classified them into different types according to the different root causes of misses. Univariable, multivariable, subgroup and propensity score analyses were used to explore the risk factors for MEGC and different types of MEGC.
    RESULTS: A total of 447 patients, comprising 345 with initially detected early gastric cancer (IDEGC) and 102 with MEGC, were included in this study. Larger size (≥ 1 cm) (OR 0.45, 95% CI 0.27-0.74, P = 0.002) and invasion depth of submucosa (OR 0.26, 95% CI 0.10-0.69, P = 0.007) were negatively associated with MEGC. Use of sedation (OR 0.32, 95% CI 0.20-0.52, P < 0.001) and longer observation time (OR 0.60, 95% CI 0.37-0.96, P = 0.034) exhibited protective effect on MEGC.
    CONCLUSIONS: Smaller and more superficial EGC lesions are more susceptible to misdiagnosis. The use of sedation and prolonged observation time during EGD could help reduce the occurrence of MEGC.
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  • 文章类型: Journal Article
    背景:下呼吸道感染(LRTI)对老年人构成严重威胁,但可能由于非典型表现而未被诊断。在这里,我们评估了与年轻人(<65y)相比,老年人(≥65y)的LRTI症状特征和综合征(基于症状的)病例确定。
    方法:我们纳入了布里斯托尔两家急性护理信托基金收治的确诊LRTI的成年人(≥18y),英国从2020年8月1日-2022年7月31日。使用Logistic回归评估年龄≥65岁是否降低了符合综合征LRTI病例定义的概率,使用患者入院时的症状。我们还计算了相对症状频率(对数比值比),并评估了不同年龄段的症状如何聚集。
    结果:在17,620例临床证实的LRTI病例中,8,487(48.1%)的症状符合病例定义。与那些不符合定义的人相比,这些案件更年轻,患有严重的疾病,并且不太可能接受SARS-CoV-2疫苗接种或患有活动性SARS-CoV-2感染。该组中痴呆/认知障碍的患病率和合并症的水平较低。在控制性行为后,痴呆症和合并症,年龄≥65岁显著降低了符合病例定义的概率(aOR=0.67,95%CI:0.63-0.71).年龄≥65岁的病例不太可能出现发烧和LRTI特异性症状(例如,胸膜炎,痰液)比年轻病例,年龄≥85岁的人的特征是没有咳嗽,但经常混乱和跌倒。
    结论:在该住院队列中,LRTI症状谱随着年龄的增加而发生了显著变化。标准筛查方案可能无法根据症状检测LRTI的较老和较脆弱的病例。
    BACKGROUND: Lower Respiratory Tract Infections (LRTI) pose a serious threat to older adults but may be underdiagnosed due to atypical presentations. Here we assess LRTI symptom profiles and syndromic (symptom-based) case ascertainment in older (≥ 65y) as compared to younger adults (< 65y).
    METHODS: We included adults (≥ 18y) with confirmed LRTI admitted to two acute care Trusts in Bristol, UK from 1st August 2020- 31st July 2022. Logistic regression was used to assess whether age ≥ 65y reduced the probability of meeting syndromic LRTI case definitions, using patients\' symptoms at admission. We also calculated relative symptom frequencies (log-odds ratios) and evaluated how symptoms were clustered across different age groups.
    RESULTS: Of 17,620 clinically confirmed LRTI cases, 8,487 (48.1%) had symptoms meeting the case definition. Compared to those not meeting the definition these cases were younger, had less severe illness and were less likely to have received a SARS-CoV-2 vaccination or to have active SARS-CoV-2 infection. Prevalence of dementia/cognitive impairment and levels of comorbidity were lower in this group. After controlling for sex, dementia and comorbidities, age ≥ 65y significantly reduced the probability of meeting the case definition (aOR = 0.67, 95% CI:0.63-0.71). Cases aged ≥ 65y were less likely to present with fever and LRTI-specific symptoms (e.g., pleurisy, sputum) than younger cases, and those aged ≥ 85y were characterised by lack of cough but frequent confusion and falls.
    CONCLUSIONS: LRTI symptom profiles changed considerably with age in this hospitalised cohort. Standard screening protocols may fail to detect older and frailer cases of LRTI based on their symptoms.
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  • 文章类型: Case Reports
    胆管导管内嗜酸性细胞乳头状肿瘤(IOPN)的病理特征包括富含嗜酸性细胞浆并排列在乳头状结构中的肿瘤细胞。在这里,我们报告了一例因合并胆结石导致胆管IOPN漏诊的病例.一名70岁的妇女因上腹部不适住院。影像学检查后,主要诊断为胆总管结石。然而,胆结石切除后,发现了一个身份不明的肿块。当通过胆道镜观察时,肿块出现了许多被鱼卵样粘膜包围的乳头状突起,并通过病理检查证实为IOPN。该患者接受了胆总管切除术,在6个月的随访检查中未观察到复发。在这份报告中,经口胆道镜在胆道疾病诊断和组织标本采集方面显示出其优势。因此,它可以解决与术前缺乏胆管肿瘤病理证据有关的挑战。
    The pathological features of intraductal oncocytic papillary neoplasm (IOPN) of the bile duct include tumor cells that are rich in eosinophilic cytoplasm and arranged in papillary structures. Herein, we report a missed case of IOPN of the bile duct because of concomitant gallstones. A 70-year-old woman was hospitalized with upper abdominal discomfort. The primary diagnosis was choledocholithiasis following imaging examination. However, an unidentified mass was detected after the gallstones were removed. The mass appeared as many papillary protuberances surrounded by fish-egg-like mucosa when viewed by the choledochoscope and was confirmed as IOPN by pathological examination. The patient underwent choledochectomy and no recurrence was observed at the 6-month follow-up examination. In this report, peroral choledochoscopy demonstrated its advantages for the diagnosis of biliary diseases and acquisition of tissue specimens. Therefore, it may solve the challenge related to the lack of preoperative pathological evidence for bile duct tumors.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    本报告涉及一名70岁男性特发性正常压力脑积水(iNPH)的病例。目前病例的诊断需要2年多的时间。iNPH的特征是脑室肥大,具有已知的三联症状:步态障碍,认知障碍和尿失禁。尽管这是一个困难的诊断,必须排除其他条件,过程中的几个点可以导致正确的诊断。该报告的目的是确定诊断被推迟这么长时间的几个原因,以及未来的教训。
    该患者随着时间的推移出现了一些症状。首先,他表现出抑郁情绪和行为改变。他后来出现了步态困难,最后,尿失禁.多次咨询和检查未能为他的所有症状提供确切的解释。两年后,医院的一名新医生从头开始,认出了iNPH三合会,放射科医生证实了诊断.
    iNPH的诊断很困难,随着时间的推移,症状可能会显现出来。在这种情况下,诊断的延迟超出了估计。通过跨学科咨询获得更广阔的视野可以提供新的见解并导致更早的诊断。
    UNASSIGNED: This report concerns the case of a 70-year-old man with idiopathic normal pressure hydrocephalus (iNPH). The diagnosis in the current case took more than 2 years. iNPH is characterised by ventriculomegaly with a known triad of symptoms: gait disturbance, cognitive impairments and urinary incontinence. Although this is a difficult diagnosis and other conditions must be ruled out, several points in the process could lead to a correct diagnosis. The aim of the report is to identify several reasons why the diagnosis was delayed for such a long time, as well as lessons for the future.
    UNASSIGNED: This patient developed several symptoms over time. First, he presented with depressive mood and altered behaviour. He later developed gait difficulties and, finally, urinary incontinence. Multiple consultations and examinations failed to provide an exact explanation for all his symptoms. After 2 years, a new doctor at the hospital started from scratch and recognised the iNPH triad, and the diagnosis was confirmed by the radiologist.
    UNASSIGNED: The diagnosis of iNPH is difficult, as symptoms may manifest over time. In this case, the delay of diagnosis exceeded estimations. A broader view through interdisciplinary consultation could provide new insights and lead to earlier diagnosis.
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  • 文章类型: Case Reports
    甲状腺毒性周期性麻痹(TPP)是一种罕见的疾病,由于甲状腺功能亢进引起的低钾血症而表现为发作性周期性麻痹。由于缺乏意识,及时诊断仍然是一个持续的挑战,自我解决的事件,以及它在临床上模仿家族性低钾性周期性麻痹(FHPP)的事实,这在西方更为常见。TPP在亚洲人中更常见,但由于全球化,在西方国家已经出现。我们介绍了一例24岁的西班牙裔男性,他表现为双侧下肢无力。在过去的一年里,他有过五次这样的事件,他们自己解决了。目前的弱点更严重,他需要轮椅才能走动。尽管做了大量的工作,花了四个多月的时间才做出明确的诊断并治疗他的甲状腺功能亢进。文献综述报道,大多数TPP病例通常在多次发作后诊断。并对诊断错误的原因进行了研究。通过这次审查,我们提出了一个有诊断延迟的TPP案例,讨论病因的文献综述,发病机制,临床表现,和管理,强调TPP的诊断挑战。意识到这种情况,及时评估甲状腺功能亢进是低钾性周期性瘫痪的原因,了解导致其诊断挑战的因素将有助于及时识别和治疗。
    Thyrotoxic periodic paralysis (TPP) is a rare condition that presents with episodic periodic paralysis due to hypokalemia that develops from hyperthyroidism. Timely diagnosis is still an ongoing challenge due to lack of awareness, self-resolving episodes, and the fact that it clinically mimics familial hypokalemic periodic paralysis (FHPP), which is more common in the West. TPP is more commonly seen among Asians but has been emerging in Western countries due to globalization. We present a case of a 24-year-old Hispanic male who presented with bilateral lower extremity weakness. He had five such episodes in the past year, which resolved on their own. The current episode of weakness was worse, and he required a wheelchair to ambulate. Despite extensive work, it took over four months to make a definitive diagnosis and treat his hyperthyroidism. A literature review reported that most cases of TPP are usually diagnosed after multiple episodes, and the causes of diagnostic error were studied. Through this review, we present a case of TPP with diagnostic delay, a literature review discussing the etiology, pathogenesis, clinical manifestations, and management, with an emphasis on the diagnostic challenge of TPP. Awareness of this condition, timely evaluation for hyperthyroidism as a cause for hypokalemic periodic paralysis, and understanding the factors that contribute to its diagnostic challenge will aid in timely recognition and treatment.
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