DIAGNOSIS, DIFFERENTIAL

诊断, 鉴别
  • 文章类型: Journal Article
    桥本脑病(HE)是一种鲜为人知的疾病。在所有年龄组都有描述,然而,没有特定的HE标记。此外,现有研究中的治疗数据往往存在分歧和矛盾.因此,我们的系统性和批判性综述旨在根据最新发现评估HE的诊断和治疗.浏览的数据库包括PubMed,Scopus,谷歌学者以及科克伦图书馆,搜索策略包括受控的词汇和关键词。共发现2443份手稿,自HE研究开始以来一直发表到2024年2月。为了确定从研究中收集的数据的有效性,使用RoB2工具进行偏倚评估.最终,我们的研究包括6项研究.在有精神和神经症状的患者的鉴别诊断中应考虑HE。根据我们的发现,阴性甲状腺过氧化物酶抗体(抗TPO)可能是排除HE的一个有价值的参数。尽管如此,此结果不能用于确认HE。此外,所提出的抗NH2-末端-α-烯醇化酶(抗-NAE)对HE是非特异性的。糖皮质激素治疗的有效率为60.94%,尽管31.67%的患者在治疗后复发。我们的评论强调了进行进一步大规模研究的重要性以及考虑潜在遗传因素的必要性。
    Hashimoto\'s encephalopathy (HE) has been a poorly understood disease. It has been described in all age group, yet, there is no specific HE marker. Additionally, the treatment data in the available studies are frequently divergent and contradictory. Therefore, the aim of our systematic and critical review is to evaluate the diagnosis and treatment of HE in view of the latest findings. The databases browsed comprised PubMed, Scopus, and Google Scholar as well as Cochrane Library, and the search strategy included controlled vocabulary and keywords. A total of 2443 manuscripts were found, published since the beginning of HE research until February 2024. In order to determine validity of the data collected from studies, bias assessment was performed using RoB 2 tool. Ultimately, six studies were included in our study. HE should be considered in the differential diagnosis in patients with psychiatric and neurological symptoms. According to our findings, negative thyroid peroxidase antibodies (anti-TPOs) may represent a valuable parameter in ruling out HE. Nonetheless, this result cannot be used to confirm HE. Furthermore, the proposed anti NH2-terminal-α-enolase (anti-NAE) is non-specific for HE. The effectiveness of glucocorticoid therapy is 60.94%, although relapse occurs in 31.67% of patients following the treatment. Our review emphasizes the significance of conducting further large-scale research and the need to take into account the potential genetic factor.
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  • 文章类型: Journal Article
    结节性脱髓鞘病变是多发性硬化症的一种变体,是诊断挑战。结节性脱髓鞘病变需要广泛的检查,因为其临床和放射学特征通常与其他中枢神经系统病变难以区分。如肿瘤。诊断变得更加复杂,因为越来越多的人认识到根癌性脱髓鞘病变可以同时发生,进化成,或者是从多发性硬化症以外的许多疾病发展而来的,指出可能重叠的病因。我们回顾了从2017年起的相关研究,以提供关于发病机理的最新观点。临床和影像学检查结果,鉴别诊断的新诊断技术,根癌性脱髓鞘性病变的处理。
    Tumefactive demyelinating lesion is a variant of multiple sclerosis that is a diagnostic challenge. Tumefactive demyelinating lesion requires extensive work-up as its clinical and radiological features are often indistinguishable from other central nervous system lesions, such as tumors. Diagnosis is further complicated by the increasing recognition that tumefactive demyelinating lesions can occur alongside, evolve into, or develop from numerous conditions other than multiple sclerosis, pointing to a possible overlapping etiology. We review herein relevant studies from 2017 onwards to provide a current view on the pathogenesis, clinical and imaging findings, novel diagnostic techniques for differential diagnoses, and management of tumefactive demyelinating lesions.
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  • 文章类型: Case Reports
    子宫苗勒腺肉瘤(MA)是一种罕见的双相肿瘤,占子宫肿瘤的0.5%以下。演讲的年龄范围很广,年龄中位数在生命的第五个十年。它通常具有良好的预后;然而,当它出现肉瘤过度生长时,它会恶化,异源成分或浸润子宫肌层。我们报告了一例63岁的妇女,表现出异常的阴道出血和从宫颈管流出的固体物质的感觉,该妇女在进行大规模活检和随后的子宫切除术后被诊断为苗勒腺肉瘤伴肉瘤过度生长(MASO)并存在异源元素。我们回顾了文献,特别关注要评估的鉴别诊断,以及根据它们是否呈现不良预后的组织学特征在预后和治疗上的差异。
    Uterine mullerian adenosarcoma (MA) is a rare biphasic tumour that accounts for less than 0.5% of uterine neoplasms. The age range of presentation is wide, with the median age in the 5th decade of life. It usually has a good prognosis; however, it worsens when it presents with sarcomatous overgrowth, heterologous elements or infiltrates the myometrium. We report the case of a 63-year-old woman presenting with abnormal vaginal bleeding and a sensation of solid material coming out of the cervical canal who was diagnosed with mullerian adenosarcoma with sarcomatous overgrowth (MASO) and presence of heterologous elements after performing a mass biopsy and subsequent hysterectomy. We reviewed the literature, focusing especially on the differential diagnoses to be evaluated, as well as the differences in prognosis and treatment according to whether or not they present histologic features of poor prognosis.
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  • 文章类型: Case Reports
    背景:肺肉瘤样癌(PSC),一种罕见的肿瘤,占所有恶性肺部肿瘤的0.1%至0.4%。鉴于PSC的稀有性,它的临床过程,治疗指南,和患者的结果仍然很大程度上未知。因此,必须提醒临床医生注意这种极为罕见且具有指导性的早发性癌症.
    方法:本报告描述了一名28岁女性患有PSC,最初被误诊为Whipple病.经过仔细的临床检查,对PSC做出了决定性的诊断。成像,和患者活检样本的组织病理学评估。放射学成像显示患者左上叶有多个结节和肿块形成,最大尺寸为5.4×3.2厘米。
    方法:组织病理学检查表明存在与坏死相关的恶性肿瘤,提示肉瘤,病理分期为cT4N1M1。
    结果:阿霉素和异环磷酰胺的治疗方案,导致稳定的疾病状态。
    结论:稀有性和肿瘤起源挑战诊断,强调组织学检查的重要作用,免疫组织化学,和流式细胞术,以实现准确的诊断。本报告总结了现有出版物,以全面概述PSC,包括其临床表现,射线成像,病理特征,诊断挑战,治疗策略,和预后,旨在提高对PSC的理解。
    BACKGROUND: Pulmonary sarcomatoid carcinoma (PSC), a rare tumor, comprises 0.1% to 0.4% of all malignant lung tumors. Given the rarity of PSC, its clinical course, therapeutic guidelines, and patient outcomes remain largely unknown. Therefore, it is imperative to alert clinicians to this extremely rare and instructive early-onset cancer.
    METHODS: This report describes a 28-year-old woman with PSC, who was initially misdiagnosed with Whipple\'s disease. A conclusive diagnosis of PSC was made following careful clinical examination, imaging, and histopathological evaluation of the patient\'s biopsy sample. Radiological imaging revealed multiple nodules and mass formations in the left upper lobe of the patient\'s lung, with the largest measuring of 5.4 × 3.2 cm.
    METHODS: Histopathological examination indicated the presence of a malignant neoplasm associated with necrosis suggestive of sarcoma, which was pathologically staged as cT4N1M1.
    RESULTS: A regimen of doxorubicin and ifosfamide was administered therapeutically, resulting in a stable disease state.
    CONCLUSIONS: The rarity and tumor origin challenge the diagnosis, which emphasizes the imperative role of histological examination, immunohistochemistry, and flow cytometry in achieving an accurate diagnosis. This report summarizes the existing publications to provide a comprehensive overview of PSC, including its clinical manifestations, radiographic imaging, pathologic features, diagnostic challenges, treatment strategies, and prognosis, and aims to improve the understanding of PSC.
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  • 文章类型: Letter
    暂无摘要。
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  • 文章类型: Journal Article
    “双舌征”是路德维希心绞痛患者的特征性发现,由于气道受损而可能危及生命的感染。管理主要集中在早期气道保护和抗生素管理。颌下唾液管结石,另一方面,可能出现双舌征,没有提示气道受累的症状。不像路德维希的心绞痛,保守治疗通常是胆管结石的一线治疗方法.通过有效的分诊和风险分层强调快速识别和区分这两种情况的重要性,特别是在农村地区,医生是不容易得到。
    The \"double tongue sign\" is a characteristic finding in patients with Ludwig\'s angina, a potentially life-threatening infection due to airway compromise. Management primarily focuses on early airway protection and antibiotic administration. Submandibular sialolithiasis, on the other hand, could present with the double tongue sign without symptoms suggestive of airway involvement. Unlike Ludwig\'s angina, conservative treatment is usually the first-line approach for sialolithiasis. The importance of rapidly recognizing and distinguishing between the 2 conditions is emphasized through effective triage and risk stratification, particularly in rural areas where physicians are not readily available.
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  • 文章类型: Case Reports
    背景:肺栓塞(PE)表现出与急性冠脉综合征(ACS)相似的临床特征,包括心电图异常和肌钙蛋白水平升高,这在紧急情况下经常导致误诊。
    方法:这里,我们报告了一例PE与慢性冠脉综合征同时发生的病例,患者的病情被模拟ACS的症状所掩盖。一名68岁的晕厥女性出现在医院。一被录取,她被发现肌钙蛋白水平升高,心电图显示多条导线的ST段变化,最初导致ACS的诊断。急诊冠状动脉造影显示右冠状动脉左心室后支闭塞,但是基于干预的复杂性,闭塞被认为是慢性的而非急性的.入院后第3天,患者反复出现胸闷和呼吸急促,经紧急计算机断层扫描肺动脉造影证实为急性PE。标准化抗凝治疗后,患者病情好转,随后出院。
    结论:本病例报告强调了认识PE非特异性特征的重要性。临床医生在识别其他难以解释的伴随预期疾病的临床特征时应该保持警惕,有必要仔细查明原因,以防止漏诊或误诊。
    BACKGROUND: Pulmonary embolisms (PEs) exhibit clinical features similar to those of acute coronary syndrome (ACS), including electrocardiographic abnormalities and elevated troponin levels, which frequently lead to misdiagnoses in emergency situations.
    METHODS: Here, we report a case of PE coinciding with chronic coronary syndrome in which the patient\'s condition was obscured by symptoms mimicking ACS. A 68-year-old female with syncope presented to the hospital. Upon admission, she was found to have elevated troponin levels and an electrocardiogram showing ST-segment changes across multiple leads, which initially led to a diagnosis of ACS. Emergency coronary arteriography revealed occlusion of the posterior branches of the left ventricle of the right coronary artery, but based on the complexity of the intervention, the occlusion was considered chronic rather than acute. On the 3rd day after admission, the patient experienced recurrent chest tightness and shortness of breath, which was confirmed as acute PE by emergency computed tomography pulmonary angiography. Following standardized anticoagulation treatment, the patient improved and was subsequently discharged.
    CONCLUSIONS: This case report highlights the importance of recognizing the nonspecific features of PE. Clinicians should be vigilant when identifying other clinical features that are difficult to explain accompanying the expected disease, and it is necessary to carefully identify the causes to prevent missed diagnoses or misdiagnoses.
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  • 文章类型: Case Reports
    痛风是一种代谢紊乱,导致血清尿酸水平升高和尿酸盐晶体在关节中沉积。该疾病通常局限于关节间隙,并导致疼痛和颌骨开放的限制。该病例描述了一名45岁的女性患者,主要主诉为“左颞肌区域偶尔疼痛”。该病例在物理和影像学检查结果后发现了颞下颌关节(TMJ)的痛风表现。痛风在TMJ中的表现是不寻常的表现,英语文献中的一些报道解决了这个问题。TMJ痛风由于罕见,应作为关节疾病的鉴别诊断。临床医生在面部疼痛的鉴别诊断中可能会忽略涉及TMJ的痛风,即使患者已在其他关节中诊断为痛风。
    UNASSIGNED: Gout is a metabolic disorder that leads to elevated serum uric acid levels and deposition of urate crystals in the joints. The disease is usually confined to the joint space and leads to pain and limitation of jaw opening. The case describes a 45-year-old female patient with a chief complaint of \'occasional pain in the left temporal muscle region\'. The case disclosed a gout manifestation in the temporomandibular joint (TMJ) after physical and radiographic findings. Gout manifestation in the TMJ is an unusual presentation and a few reports in the English literature address the subject. Gout in the TMJ should be included as a differential diagnosis for joint disorders because of its rarity. A clinician may overlook gout involving the TMJ in the differential diagnosis of facial pain even when the patient has received a diagnosis of gout in other joints.
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  • 文章类型: Case Reports
    背景和目的:浸润性导管乳腺癌(BC)的胃转移很少见。主要发生于小叶型BC患者。通常在初次诊断后几年观察到多发性转移的发生。内镜下发现的BC胃转移通常为linitis塑性型。病例介绍:一名72岁的妇女在10个月前接受了右改良根治术(MRM),在全身化疗期间被诊断为早期胃癌(EGC)后被转诊。EGCⅠ型在胃底发现,病理发现为低分化腺癌。考虑异时双原发肿瘤EGC。治疗和结果:进行了腹腔镜全胃切除术,术后病理提示粘膜下层浸润及两个淋巴结转移。病理学综述,集中于选定的抗体如GATA结合蛋白3(GATA3)的免疫组织化学研究,粗囊性病液蛋白-15(GCDFP-15),再次进行细胞角蛋白7(CK7),比较以前的结果。因此,诊断为BC的胃转移。完全腹腔镜全胃切除术后,使用紫杉醇/CDDP进行姑息性一线化疗。胃切除术后两个月,她被诊断为主动脉旁淋巴结转移和多发性骨转移。她在胃切除术后六个月死亡。结论:乳腺浸润性导管癌的胃转移,临床表现为EGC,是非常罕见的情况。如果有BC的病史,需要仔细的病理检查。
    Backgound and Objectives: Gastric metastasis from invasive ductal breast cancer (BC) is rare. It mainly occurs in patients with lobular BC. The occurrence of multiple metastases is typically observed several years after the primary diagnosis. Endoscopic findings of gastric metastasis of the BC were usually the linitis plastic type. Case presentation: A 72-year-old women who underwent right modified radical mastectomy (MRM) 10 month ago was referred after being diagnosed with early gastric cancer (EGC) during systemic chemotherapy. EGC type I was found at gastric fundus, and pathologic finding showed poorly differentiated adenocarcinoma. Metachronous double primary tumor EGC was considered. Management and Outcome: A laparoscopic total gastrectomy was performed, and postoperative pathology revealed submucosa invasion and two lymph node metastases. A pathologic review that focused on immunohistochemical studies of selected antibodies such as GATA binding protein 3 (GATA3), gross cystic disease fluid protein-15 (GCDFP-15), cytokeratin 7 (CK7) was performed again, comparing previous results. As a result, gastric metastasis from BC was diagnosed. After totally laparoscopic total gastrectomy, palliative first-line chemotherapy with paclitaxel/CDDP was performed. Two months after gastrectomy, she was diagnosed with para-aortic lymph node metastasis and multiple bone metastases. She expired six months after gastrectomy. Conclusions: Gastric metastasis from invasive ductal carcinoma of the breast, which is clinically manifested as EGC, is a very rare condition. If there is a history of BC, careful pathological review will be required.
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  • 文章类型: Case Reports
    BacilleCalmette-Guérin(BCG)是一种减毒活疫苗,常规用于新生儿,以预防结核病流行国家的严重结核病(TB)。播散性BCG疫苗病是患有人类免疫缺陷病毒(HIV)或原发性免疫缺陷疾病(PID)的儿童的经典特征,并与高死亡率相关。我们报告了一例6个月大的婴儿,患有播散性BCG疾病和噬血细胞性淋巴组织细胞增生症,模仿了青少年骨髓单核细胞白血病,即使经过广泛的实验室检查并死于进行性疾病,也没有HIV或PID的明显特征。播散性BCG病是BCG疫苗的一种罕见且可能致命的并发症,并及时进行免疫学评估,辅之以4种药物的抗结核治疗和抗逆转录病毒治疗或造血干细胞移植的确定性治疗。
    Bacille Calmette-Guérin (BCG) is a live-attenuated vaccine routinely administered to newborns to prevent severe forms of tuberculosis (TB) in TB-endemic countries. Disseminated BCG vaccine disease is a classic feature of children with human immunodeficiency virus (HIV) or primary immunodeficiency disorders (PIDs) and is associated with high mortality. We report a case of a 6-month-old infant with disseminated BCG disease and hemophagocytic lymphohistiocytosis mimicking juvenile myelomonocytic leukemia with no demonstrable features of HIV or PID even after extensive laboratory work-up and succumbed to progressive disease. Disseminated BCG disease is a rare and potentially fatal complication of BCG vaccine, and prompt immunological evaluation complemented by initiation of 4-drug antitubercular therapy and definitive treatment with antiretroviral therapy or hematopoietic stem cell transplant is warranted.
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