Haematology (incl blood transfusion)

血液学 ( 包括输血 )
  • 文章类型: Case Reports
    数字缺血有广泛的鉴别诊断,包括经常遇到的血管或血栓栓塞性质的疾病,以及不太常见的疾病,例如血管或风湿病起源的疾病。较不常见的病理是与恶性肿瘤相关的数字缺血。这种副肿瘤过程很少见,文献中也很少描述。尽管已在各种实体和血液恶性肿瘤中观察到。这里,我们描述了一个非典型表现为数字缺血的患者病例,并简要回顾了与癌症相关的数字缺血的先前报道。
    There is a broad differential diagnosis of digital ischaemia that includes commonly encountered conditions of vascular or thromboembolic nature as well as less commonly seen such as those of vasculitic or rheumatological origin. A less frequently encountered pathology is digital ischaemia associated with malignancy. This paraneoplastic process is rare and infrequently described in the literature, though it has been observed in various solid and haematological malignancies. Here, we describe a patient case with an atypical presentation of digital ischaemia and present a brief review on prior reports of digital ischaemia related to cancer.
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  • 文章类型: Case Reports
    抗磷脂综合征(APS)是一种罕见的自身抗体介导的疾病,其特征是获得性血栓形成,导致反复的动脉和静脉血栓形成。一个激发因子允许内皮磷脂的暴露,导致抗原形成和随后产生的抗体。一名70多岁的妇女在车辆创伤后出现,肋骨骨折,气胸和偶然发现的左肾上腺出血。两周后,她出现了急性腹痛,在CT成像中发现右肾上腺出血,没有发生间隔创伤。该患者进行了抗磷脂抗体实验室研究,并在出院时给予静脉内肝素与华法林的桥接。实验室检查结果为狼疮抗凝物阳性,β-2糖蛋白和抗心磷脂抗体表明三阳性,在12周内反复进行实验室检查呈阳性,确认诊断。双侧肾上腺出血,而不是传统的静脉血栓栓塞,是该患者诊断为APS的病理表现。
    Antiphospholipid syndrome (APS) is an uncommon autoantibody-mediated condition characterised by acquired thrombophilia resulting in recurrent arterial and venous thrombosis. An inciting factor allows for the exposure of endothelial phospholipids, causing antigen formation and subsequent creation of antibodies. A woman in her 70s presented after vehicular trauma, suffering broken ribs, pneumothorax and incidentally discovered left adrenal haemorrhage. Two weeks later she presented with acute-onset abdominal pain and was found to have a right adrenal gland haemorrhage on CT imaging without interval trauma occurring. The patient had antiphospholipid antibody laboratory studies drawn and was given intravenous heparin with a bridge to warfarin at discharge. Laboratory results returned positive for lupus anticoagulant, beta-2 glycoprotein and anticardiolipin antibodies indicating triple positivity, with repeated laboratory tests positive in 12 weeks\' time, confirming the diagnosis. Bilateral adrenal haemorrhage, rather than traditional venous thromboembolism, was the presenting pathology in this patient\'s diagnosis of APS.
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  • 文章类型: Case Reports
    我们遇到一个60多岁的人,表现出严重的巨舌症。患者接受了广泛的耳鼻咽喉科评估,并在舌活检中诊断为原发性(AL)淀粉样变性。刚果红染色。然后,患者接受了骨髓活检,并发现并发多发性骨髓瘤。他开始使用达雷妥单抗和CyBorD(环磷酰胺,硼替佐米,地塞米松)。心脏MRI显示广泛的心脏淀粉样变性,患者被认为是自体干细胞移植(auto-HCT)的高风险。不幸的是,患者因心力衰竭恶化而住院,需要广泛的医疗管理,并因这种病理而去世。AL淀粉样变性是一种罕见的疾病,以巨舌症作为唯一的表现是值得注意的。此病例强调了在出现类似症状的患者中考虑AL淀粉样变性的重要性,因为巨舌可归因于其他不太严重的病因。
    We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.
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  • 文章类型: Case Reports
    骨硬化性干phy端发育不良(OMD)是一种极为罕见的骨硬化症,这具有显著的临床相似性的肌硬化(DSS)。我们的目的是介绍一例罕见的OMD伴下颌肿胀和骨髓炎感染的病例,包括7岁患者的诊断旅程和治疗。已完成OMD病例的文献综述。病例报告调查方法包括基因检测,面部骨骼CT和MRI扫描,矫形图和骨活检。最初怀疑诊断为DSS患有慢性骨髓炎。然而,基因检测后,确诊为OMD.我们的患者接受了外科手术和抗生素治疗。在国际文献中报道了少于10名患有这种疾病的患者。有一个广泛的介绍。OMD,DSS和骨髓炎都在相似的骨骼状况范围内。我们的理解,关于OMD,仍然有限,因此,需要进一步的研究来阐明全面的临床表现。
    Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases. Case report investigative methods include genetic testing, CT facial bones and MRI scan, orthopantogram and bone biopsies. An initial suspected diagnosis of DSS with chronic osteomyelitis was made. However, following genetic testing, a diagnosis of OMD was confirmed. Our patient underwent a surgical debulking procedure and antibiotic treatment. Less than 10 patients with this condition have been reported within the international literature. There is a wide range of presentation. OMD, DSS and osteomyelitis are all within a similar spectrum of bone conditions. Our understanding, regarding OMD, remains limited and, hence, further research is required to elucidate a thorough clinical picture.
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  • 文章类型: Case Reports
    一名70多岁,胃肠道(GI)症状模糊且无意中体重减轻的妇女被转诊到内窥镜检查诊所进行胃肠道恶性肿瘤的调查和考虑。胸部CT,腹部和骨盆在食管-胃交界处显示可疑肿块,在S1-S2骶骨上有溶解性病变。随后的上消化道内窥镜检查显示两个凸起,胃的小曲率上的溃疡肿瘤。到整个脊柱的MRI检查时,发现涉及胸部的多个转移瘤,腰椎和骶骨,她出现了腿部无力和感觉异常,与影像学检查结果一致。正电子发射断层扫描/CT扫描进一步证实了上述发现。最初的工作诊断是原发性胃肠道肿瘤伴骨转移。然而,在肿瘤的免疫组织化学显示它是与λ轻链沉积相关的浆细胞来源(CD138阳性)后,她后来被转诊到血液学小组。无血清轻链显示出272mg/L的升高的λ轻链和11.3mg/L的κ轻链,涉及/未涉及的轻链比率为24。骨髓活检证实浆细胞骨髓瘤具有中度疾病负担。单克隆λ链在免疫固定上得到证实,但在血清蛋白电泳上呈阴性,因此诊断为胃肠道受累的少分泌性骨髓瘤。随后的管理包括物理治疗,疼痛管理和化疗,这个女人在Velcade(通常称为硼替佐米)上开始,沙利度胺和地塞米松,她继续经历临床和生化改善。
    A woman in her 70s with vague gastrointestinal (GI) symptoms and unintentional weight loss was referred to endoscopy clinic for investigation and consideration of GI malignancy. CT of the thorax, abdomen and pelvis showed a suspicious mass in the oesophago-gastric junction with a lytic lesion on S1-S2 sacrum. A subsequent upper GI endoscopy revealed two raised, ulcerated tumours on the lesser curvature of the stomach. By the time an MRI of the whole spine was done which revealed multiple metastases involving thoracic, lumbar and sacral skeleton, she had developed leg weakness and paraesthesias, consistent with the imaging findings. A positron emission tomography/CT scan further confirmed the above findings. The initial working diagnosis was primary GI tumour with bony metastases. However, she was later referred to the haematology team after the immunohistochemistry of the tumour showed that it was of a plasma cell origin (CD138 positive) associated with lambda light chain deposits. Serum-free light chain showed a raised lambda light chain of 272 mg/L and kappa light chain of 11.3 mg/L and involved/uninvolved light chain ratio of 24. Bone marrow biopsy confirmed a plasma cell myeloma with moderate disease burden. Monoclonal lambda chains were demonstrated on immunofixation but negative on serum protein electrophoresis and hence a diagnosis of oligosecretory myeloma with GI involvement was made. Subsequent management involved physiotherapy, pain management and chemotherapy, where this woman was commenced on Velcade (generically known as bortezomib), thalidomide and dexamethasone and she continued to experience clinical and biochemical improvement.
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  • 文章类型: Case Reports
    一名68岁的妇女在没有事先接触肝素的情况下被送往医院进行双膝选择性全膝关节置换术。她在术后第12天出现肾上腺出血和血小板减少症,随后出现右腿动脉闭塞和多个静脉腹内部位血栓形成。在给予普通肝素治疗动脉闭塞后,血小板计数逐渐下降。自发性肝素诱导的血小板减少症通过肝素诱导的血小板活化试验和光透射聚集测定法诊断。患者成功接受磺达肝素和静脉注射免疫球蛋白治疗。血小板计数恢复后给予阿哌沙班。治疗2个月后,整个腹部的CT显示沿主动脉的血栓和肾上腺出血的消退。我们的案例表明,这种严重的并发症很重要,但很少早期发现。
    A 68-year-old woman was admitted to the hospital for elective total knee arthroplasty in both knees without preceding heparin exposure. She developed adrenal haemorrhage and thrombocytopaenia on postoperative day 12, followed by right leg arterial occlusion and multiple venous intra-abdominal sites thrombosis. After given unfractionated heparin to treat arterial occlusion, platelet count was gradually declined. Spontaneous heparin-induced thrombocytopaenia was diagnosed by heparin-induced platelet activation test with light transmission aggregometry. The patient was successfully treated with fondaparinux and intravenous immunoglobulin. Apixaban was given after recovery of platelet count. Resolution of both thrombus along aorta and adrenal haemorrhage were shown by CT of whole abdomen after 2 months of treatment. Our case demonstrates that this serious complication is important but seldom recognised early.
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  • 文章类型: Case Reports
    Immune thrombocytopenic purpura (ITP) is characterised by isolated thrombocytopenia which may be idiopathic or due to a secondary aetiology. ITP is being increasingly recognised secondary to SARS-CoV-2 infection in the current pandemic. Here, we report a case of a five-and-a-half-year-old female child on maintenance chemotherapy for acute lymphoblastic leukaemia who subsequently developed ITP secondary to SARS-CoV-2 infection. Our patient had prolonged thrombocytopenia secondary to ITP, requiring the use of second-line agents including romiplostim and eltrombopag. This is a unique case where ITP was recognised secondary to SARS-CoV-2. In such cases of thrombocytopenia, ITP should be considered as an important differential in addition to relapse of leukaemia or thrombocytopenia due to chemotherapy drugs.
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  • 文章类型: Case Reports
    一名有3型血管性血友病(VWD)病史的18岁男子表现为自发性脓性血胸。3型VWD可能同时伴有皮肤粘膜出血和深层出血,例如内脏出血,颅内出血和关节积血。在自发性脓性血胸儿童中描述的病例很少。由于手术引流后出血的风险,该患者的管理具有挑战性。需要不断更换vonWillebrand因子浓缩物,同时监测因子VIII水平以平衡血栓形成的风险。
    An 18-year-old man with a history of type 3 von Willebrand disease (VWD) presented with a spontaneous pyohaemothorax. Type 3 VWD may present with both mucocutaneous and deep-seated bleeds, such as visceral haemorrhages, intracranial bleeds and haemarthrosis. There have been very few cases described in children of spontaneous pyohaemothorax. Management of this patient was challenging due to risks of bleeding following surgical drainage, requiring constant replacement with von Willebrand factor concentrate, while monitoring factor VIII levels to balance the risks of thrombosis.
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  • 文章类型: Case Reports
    一个65岁的男人,一个吸烟者,患有进行性数字缺血的急诊科,发烧和减肥。临床检查显示第二远端右指骨的广泛性淋巴结肿大和缺血性改变,第三个和第四个手指。他做了颈部淋巴结的超声引导活检,显示了典型霍奇金淋巴瘤的组织病理学发现。副肿瘤性肢端血管综合征(PAVS)是一种罕见的现象,在实体恶性肿瘤中多见。在血液系统恶性肿瘤中很少有PAVS的报道。包括霍奇金淋巴瘤.该病例强调了这样一种观点,即肢血管综合征的存在-尤其是在老年患者中-应提醒医生寻找潜在的恶性肿瘤,作为医学评估的一部分。此外,它表明,药物治疗可能会减缓数字缺血的进展,直到罪魁祸首肿瘤被识别和治疗。
    A 65-year-old man, a smoker, presented to the emergency department with progressive digital ischaemia, fever and weight loss. The clinical examination revealed generalised lymphadenopathy and ischaemic changes of the right distal phalanges of the second, third and fourth fingers. He had an ultrasound-guided biopsy of the cervical lymph node, which showed histopathological findings of classic Hodgkin\'s lymphoma. Paraneoplastic acral vascular syndrome (PAVS) is a rare phenomenon and seen more in solid malignancies. There are very few reported cases of PAVS in haematological malignancies, including Hodgkin\'s lymphoma. This case highlights the idea that the presence of acral vascular syndrome-especially in older patients-should alert physicians to search for an underlying malignancy as part of the medical evaluation. Also, it shows that medical treatment may slow the progress of the digital ischaemia until the culprit tumour has been identified and treated.
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  • 文章类型: Case Reports
    抗磷脂综合征(APLS)是一种易于发生静脉和动脉血栓形成的自身免疫性疾病。华法林是抗凝血剂的选择。然而,需要进行常规的国际标准化比率(INR)检查和多种药物相互作用是华法林的一些困难.目前,支持和反对使用新型口服抗凝剂(NOAC)预防血栓形成的证据不一.我们提供了一例APLS患者在NOAC中进行二级血栓预防的病例报告,该患者发展为中风,并讨论了有关在APLS患者中使用NOAC的最新证据。患者改用华法林进行二级血栓预防,INR目标为2-3。文献综述显示,在APLS患者中,支持和反对NOAC二级预防血栓事件的混合病例报告。需要进一步的随机对照试验来评估NOAC对APLS患者血栓预防的疗效。
    Antiphospholipid syndrome (APLS) is an autoimmune condition that predisposes to venous and arterial thrombosis. Warfarin is the agent of choice for anticoagulation. However, a need for routine international normalised ratio (INR) checks and multiple drug interactions are some of the difficulties with warfarin. Currently, there is mixed evidence for and against the use of novel oral anticoagulants (NOACs) for thromboprophylaxis. We present a case report of a patient with APLS on a NOAC for secondary thromboprophylaxis who developed a stroke and discuss current evidence regarding the use of NOACs in patients with APLS. The patient was switched to warfarin for secondary thromboprophylaxis with an INR goal of 2-3. Literature review revealed mixed case reports for and against NOACs for secondary prevention of thrombotic events in patients with APLS. There needs to be further randomised controlled trials to evaluate the efficacy of NOACs for thromboprophylaxis in patients with APLS.
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