Clinical manifestation

临床表现
  • 文章类型: Journal Article
    Presented clinical observation of anti-NMDA-receptor encephalitis, which was first described in 2007, is rare and to date has not been sufficiently studied. The disease often manifests with psychopathological symptoms and catatonia, so patients are transferred into a mental healthcare institution and often require intensive care and resuscitation, due to the development of life-threatening respiratory and hemodynamic disorders. Diagnosis is based on detection of autoantibodies to the NR1- and NR2 subunits of the glutamate NMDA receptor in blood serum and cerebrospinal fluid. Pathogenesis-based therapy includes the administration of glucocorticoids and intravenous immunoglobulins, plasmapheresis, as well as the introduction of monoclonal antibodies in also used, and in severe cases, cytostatics are prescribed. The widespread comorbidity of anti-NMDA receptor encephalitis with ovarian neoplasms in women (up to 60%) requires appropriate diagnosis and early removal of ovarian neoplasms when they are detected. With timely diagnosis and adequate treatment strategies, the outcome of this rare disorder is usually positive.
    Представлено клиническое наблюдение заболевания анти-NMDA-рецепторного энцефалита, которое впервые описано в 2007 г., является редким и к настоящему моменту недостаточно изученным. Заболевание обычно дебютирует с психопатологической симптоматики и кататонии, поэтому пациенты помещаются в психиатрическое учреждение и часто требуют интенсивной терапии и реанимационных мероприятий, что обусловлено развитием у них опасных для жизни дыхательных и гемодинамических нарушений. Диагностика состояния основывается на выявлении в плазме крови и цереброспинальной жидкости аутоантител к NR1- и NR2-субъединицам глутаматного NMDA-рецептора. Патогенетическая терапия предусматривает назначение глюкокортикоидов и внутривенных иммуноглобулинов, также используют плазмаферез и введение моноклональных антител, а в тяжелых случаях — цитостатики. Распространенная коморбидность анти-NMDA-рецепторного энцефалита с новообразованиями яичников у женщин (до 60%) требует проведения соответствующей диагностики и раннего удаления новообразований яичников при их обнаружении. При своевременной диагностике и адекватной лечебной тактике прогноз обычно благоприятный.
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  • 文章类型: Case Reports
    颈椎病是由于任何原因压迫颈脊髓引起的。脊髓型颈椎病最常影响C5-6水平。然而,C7-T1单级脊髓病很少见,和神经系统的发现可能是不典型的,使诊断变得困难。我们报告3例并讨论其临床表现。与其他级别的脊髓型颈椎病不同,C7-T1单级脊髓病可能表现为步态障碍,而上肢无神经功能缺损。此外,我们的三个病例都有不同程度的脊髓压迫和感觉缺陷的位置;在C7-T1水平,脊髓压迫可能不对应于感觉缺陷的部位。这些特征可能有助于临床医生诊断脊髓病。
    Cervical myelopathy is caused by compression of the cervical spinal cord for any reason. Cervical myelopathy most commonly affects the C5-6 level. However, C7-T1 single-level myelopathy is rare, and neurological findings may be atypical, making diagnosis difficult. We report three cases and discuss their clinical manifestations. Unlike other levels of cervical myelopathy, C7-T1 single-level myelopathy may present with gait disturbance without neurological deficits in the upper extremities. In addition, all three of our cases had different levels of spinal cord compression and locations of sensory deficits; at the C7-T1 level, the spinal cord compression may not correspond to the site of the sensory deficit. These features may help clinicians in the diagnosing of myelopathy.
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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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  • 文章类型: Case Reports
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  • 文章类型: Review
    Esophageal angiolipoma is a rare disease with unspecific clinical manifestations.This paper reported a case of esophageal angiolipoma confirmed by upper gastrointestinal endoscopy and summarized the clinical manifestations,endoscopic and pathological features,treatment and prognosis of the patients by reviewing the relevant literature,aiming to provide references for clinical diagnosis and treatment of this disease in the future.
    食管血管脂肪瘤发病罕见,临床表现缺乏特异性。本文报道1例经上消化道内镜检查确诊的食管血管脂肪瘤,并结合相关文献总结食管血管脂肪瘤患者的临床表现、内镜及病理特征、治疗方式和预后情况,以期为今后的临床诊治提供参考。.
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  • 文章类型: Case Reports
    对在第六波中被送往伊朗北部一家医院的11名感染COVID-19三角洲变种的新生儿进行了评估。发烧,母乳喂养不良,嗜睡,肺受累是COVID-19δ变异体感染新生儿最常见的症状。受感染的母亲可能是新生儿感染的主要原因。
    Eleven newborns infected with COVID-19 delta variant admitted to a hospital in northern Iran during the sixth wave were evaluated. Fever, poor breastfeeding, lethargy, and lung involvement were the most prevalent symptoms in COVID-19 delta variant infected neonates. Infected mothers may be a main cause of infection for neonates.
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  • 文章类型: Case Reports
    嘌呤核苷磷酸化酶缺乏型重度联合免疫缺陷(PNP一SCID)是一种罕见的常染色体隐性遗传原发性免疫缺陷病,和流行病学和结果的数据是有限的。我们报告了PNPSCID患儿的成功治疗,并对已发表的病例报告进行了系统的文献综述。案例系列,和PubMed中列出的PNPSCID的队列研究,WebofScience,和Scopus从1975年到2022年3月。从检索的2432篇文章中纳入了41篇文章,其中包括全球100名PNPSCID患者。大多数患者出现反复感染,低球蛋白血症,自身免疫表现,和神经缺陷。报告有6例相关恶性肿瘤,主要是淋巴瘤.22例患者接受了异基因造血干细胞移植,完全供体嵌合状态主要见于那些在移植前接受匹配的同胞供体和/或预处理化疗的患者。这项研究提供了一个当代的,全面概述临床表现,流行病学,基因型突变,和PNPSCID的移植结果。这些数据强调了在反复感染病例中筛查PNPSCID的重要性。低球蛋白血症,和神经缺陷。
    Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.
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  • 文章类型: Journal Article
    背景:冠状动脉疾病(CAD)被认为是COVID-19的独立危险因素。然而,没有一项研究专门检查了缺血性心脏病(IHD)患者中COVID-19的临床表现和结局.
    方法:在2020年3月20日至2020年5月20日的一项回顾性病例对照研究中,回顾了1611例经实验室确诊的SARS-CoV-2感染患者的病历。IHD被定义为冠状动脉造影异常的病史,冠状动脉成形术,冠状动脉旁路移植术(CABG),或者慢性稳定型心绞痛.人口统计数据,既往病史,药物史,症状,生命体征,实验室发现,结果,从医疗记录中调查死亡。
    结果:1518名患者(882名男性(58.1%)),平均年龄为59.3±15.5岁。IHD患者(n=300)发热的可能性显著降低(OR:0.170,95%CI:0.34-0.81,P<0.001),寒战(OR:0.74,95%CI:0.45-0.91,P<0.001)。IHD患者缺氧的可能性是1.57倍(83.3%vs.76%,OR:1.57,95%CI:1.13-2.19,P=0.007)。WBC无显著差异,血小板,淋巴细胞,LDH,AST,ALT,两组CRP水平比较(P>0.05)。在调整了人口统计特征后,合并症和生命体征,两组患者死亡的危险因素为年龄较大(OR:1.04和1.07)和癌症(OR:1.03和1.11).此外,在没有IHD的患者中,糖尿病(OR:1.50),CKD(OR:1.21)和慢性呼吸系统疾病(OR:1.48)增加了死亡率。此外,抗凝剂(OR:2.77)和钙通道阻滞剂(OR:2.00)的使用增加了两组的死亡率.
    结论:与非IHD相比,SARS-CoV-2感染的症状,如发烧,在有IHD病史的患者中,寒战和腹泻较少见.此外,年龄较大,和合并症(包括癌症,糖尿病,CKD和慢性阻塞性呼吸系统疾病)与IHD患者的较高死亡率相关。此外,抗凝剂和钙通道阻滞剂的使用增加了两组无IHD患者和有IHD患者的死亡几率.
    Coronary artery disease (CAD) is considered an independent risk factor for COVID-19. However, no study has specifically examined the clinical manifestations and outcomes of COVID-19 in patients with ischemic heart disease (IHD).
    In a retrospective case-control study between 20 March 2020 to 20 May 2020, the medical record of 1611 patients with laboratory-confirmed SARS-CoV-2 infection was reviewed. IHD was defined as a history of an abnormal coronary angiography, coronary angioplasty, coronary artery bypass graft (CABG), or chronic stable angina. Demographic data, past medical history, drug history, symptoms, vital signs, laboratory findings, outcome, and death were investigated from medical records.
    1518 Patients (882 men (58.1%)) with a mean age of 59.3 ± 15.5 years were included in the study. Patients with IHD (n = 300) were significantly less likely to have fever (OR: 0.170, 95% CI: 0.34-0.81, P < 0.001), and chills (OR: 0.74, 95% CI: 0.45-0.91, P < 0.001). Patients with IHD were 1.57 times more likely to have hypoxia (83.3% vs. 76%, OR: 1.57, 95% CI: 1.13-2.19, P = 0.007). There was no significant difference in terms of WBC, platelets, lymphocytes, LDH, AST, ALT, and CRP between the two groups (P > 0.05). After adjusting for demographic characteristics, comorbidities and vital signs, the risk factors for mortality of these patients were older age (OR: 1.04 and 1.07) and cancer (OR: 1.03, and 1.11) in both groups. In addition, in the patients without IHD, diabetes mellitus (OR: 1.50), CKD (OR: 1.21) and chronic respiratory diseases (OR: 1.48) have increased the odds of mortality. In addition, the use of anticoagulants (OR: 2.77) and calcium channel blockers (OR: 2.00) has increased the odds of mortality in two groups.
    In comparison with non-IHD, the symptoms of SARS-CoV-2 infection such as fever, chills and diarrhea were less common among patients with a history of IHD. Also, older age, and comorbidities (including cancer, diabetes mellitus, CKD and chronic obstructive respiratory diseases) have been associated with a higher risk of mortality in patients with IHD. In addition, the use of anticoagulants and calcium channel blockers has increased the chance of death in two groups without and with IHD.
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  • 文章类型: Review
    背景:肺泡软组织肉瘤(ASPS)是一种罕见的恶性软组织肿瘤,分化不明确,其中在各种软组织肿瘤中发病率仅占0.5-1.0%。更罕见的ASPS发生在肾脏中。
    方法:这里我们报道一例7岁女孩被诊断为肾源性ASPS,关于发病率的分析,临床表现,病理学和遗传学诊断,以加深对疾病的认识。
    结论:ASPS非常罕见,并且往往发生在年轻患者身上。早期准确诊断ASPS具有重要意义,这将是以下治疗选择和预后的关键点。
    BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare kind of malignant soft tissue tumor with undefined differentiation, of which the incidence rate accounts for only 0.5-1.0% among all kinds of soft tissue tumors. An even rarer ASPS occurs in kidney.
    METHODS: Here we reported a case of a 7-year-old girl diagnosed with nephrogenic ASPS, regarding the analyses of the incidence, clinical manifestation, pathology and genetic diagnosis, in order to deepen the recognition of the disease.
    CONCLUSIONS: ASPS is very rare, and tends to occur to young patients. It is very significant to precisely diagnose ASPS at an early stage, which will be the key point for the following treatment choices and prognosis.
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  • 文章类型: Journal Article
    未经证实:侧室异位神经鞘瘤(LVES)极为罕见,到目前为止,只有23例报告。本研究旨在更好地了解该病。
    未经证实:我们报道了一例罕见的LVES病例,病人被送进我们医院,对LVES的相关文献进行总结和分析,病态,成像特点和进展。
    未经证实:在23名患者中,LVES在男性中更为常见(74%,17/23)比女性多,并且主要位于右侧(78%,18/23).临床表现的平均年龄为28岁,年龄在8到68岁之间。此外,大多数病例在组织学上是良性的,除了一例恶性肿瘤.在所有良性病例中,有2例次全切除,但随访期间未发现复发.
    未经证实:LVES的起源可能是血管周围脉络丛自主神经组织的肿瘤转化。对于侧脑室肿瘤,这是罕见的良性病变,手术切除后预后良好,在鉴别诊断中应考虑LVES。此外,LVES是否可以考虑伽玛刀治疗,类似于一个小的听神经瘤,需要进一步调查。
    UNASSIGNED: Cases of lateral ventricular ectopic schwannomas (LVES) are extremely rare, with only 23 cases reported thus far. This study aimed to obtain a better understanding of the disease.
    UNASSIGNED: We reported a rare case of LVES, in which the patient was admitted to our hospital, and reviewed the relevant literature on LVES to summarize and analyze the clinical manifestations, pathologies, imaging features and progress.
    UNASSIGNED: Of the 23 patients, LVES was more common in men (74%, 17/23) than in women and was mostly located on the right side (78%, 18/23). The average age at clinical presentation was 28 years, with an age range between 8 and 68 years. Moreover, most cases were histologically benign, except in one case of malignancy. In all the benign cases, there were 2 cases of subtotal resection, but no recurrence was found during follow-up.
    UNASSIGNED: The origin of LVES could be the tumor transformation of autonomic nerve tissue in the perivascular choroid plexus. For lateral ventricle tumors,which are rare benign lesions with good prognosis after surgical resection, LVES should be considered in the differential diagnosis. Moreover, whether LVES could be considered for gamma knife treatment, similar to a small acoustic neuromas,requires further investigation.
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