血管性血友病致反复失血性休克1例并文献复习

血管性血友病是常见的遗传性出血性疾病,临床表现多样化,其诊断及治疗仍面临挑战.本文报道血管性血友病致反复失血性休克1例,并进行相关文献复习,为深入认识血管性血友病,及时进行临床诊断及治疗提供参考.     

新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症3例尸检及文献复习

目的 探讨新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床及病理特征.方法 分析新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床表现、病理改变及串联质谱（MS-MS）分析检测,并复习相关文献.结果 尸检发现新生儿除肌肉出现大量脂肪滴之外,其他全身各个重要脏器心、肝、脾、肾等均有不同程度的脂肪空泡沉积.串联质谱（MS-MS）分析检测报告均符合肉碱棕榈酰转移酶Ⅱ缺乏症检测指标改变.结论 新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症病情危重,为全身系统性疾病;诊断本疾病需结合临床、病理及实验室等各项检查.     

宫颈胃型腺癌16例临床分析

目的 探讨宫颈胃型腺癌(GAS)的临床特征、组织学特点、免疫组化表型、诊断及治疗,以提高对该病的认识.方法 回顾性分析16例GAS的临床表现、治疗疗效以及病理特点,并复习相关文献.结果 GAS患者临床表现阴道排液、出血.妇检宫颈桶状或结节状,质地硬.GAS的HPV检查多为阴性,肿瘤标记物CA199较CA125、CEA阳...     

遗传性痉挛性截瘫一家系报道并文献复习

目的分析遗传性痉挛性截瘫一家系，并复习国内外相关文献，提高对该病的认识。方法系谱分析，总结家系中5个发病成员的临床特点。结果该家系遗传特点属常染色体显性遗传，其临床表现符合单纯型遗传性痉挛性截瘫。结论本病病因及发病机制尚不明了，目前无特效治疗方法，做好产前诊断，降低发病率至关重要。     

抗甲状腺药物相关粒细胞缺乏症14例临床特点分析及文献复习

目的 分析抗甲状腺药物(ATD)相关粒细胞缺乏症患者的临床特点及探讨其易感因素、防治策略.方法 回顾性分析我院14例ATD相关粒细胞缺乏症的临床资料并进行相关文献复习.结果 ATD相关粒细胞缺乏症多发生于45岁左右女性患者,粒细胞缺乏多数发生在服药后2～12周,且与ATD剂量有关,临床上表现为发热,常伴有咽痛.有一部患者的粒缺往往表现为突然发生的,常规每1～2周白细胞和粒细胞计数不能准确预测某些患者粒缺的发生.部分患者对粒细胞缺乏症状、严重性认识不足,导致检查及治疗不及时,影响病情及预后.结论 粒细胞集落刺激因子对粒细胞恢复是有效的,抗感染治疗要选用广谱抗生素,常需考虑降阶梯的治疗策略.     

维生素B1缺乏症2例诊治体会

婴幼儿维生素B1缺乏症，临床上常常因缺乏相对特异症状和实验室检查而使诊断困难，出现漏诊和误诊。笔者经过复习文献和临床实践，体会详细询问病史，仔细查体和分析症状与体征是否相符，结合头颅CT检查，分析此病的诊断还是能够明确的。     

1例获得性血友病A病例报告并文献复习

目的 :通过分享1例获得性血友病A(AHA)病例并复习相关文献,提高该病诊断及治疗水平。方法:结合1例十二指肠腺癌诱发获得性血友病A患者临床诊治过程及相关文献报道,对该病病因、临床表现、诊断及治疗方案进行讨论。结果:通过输注人凝血因子Ⅷ及凝血酶原复合物止血,甲泼尼龙琥珀酸钠、环磷酰胺、利妥昔单抗免疫抑制治疗,患者出院时出血停止,凝血功能基本恢复正常。结论:AHA病情凶险,及时诊断并采取综合及个体化治疗措施是决定预后的关键。     

胃肠钡餐造影诊断十二指肠胆道瘘

目的：提高对十二指肠胆道瘘的认识。方法：分析本科X线上消化道钡餐造影检查中遇到的4例十二指肠胆道瘘的造影表现特点,结合文献复习,在缺乏其他辅助检查结果参考及无手术病理诊断的条件下,综合考虑,提出可能诊断。结果：深入分析X线上消化道钡餐造影检查表现,综合复习相关文献,总结其特征性表现。结论：十二指肠胆道瘘是一种少见病,临床上易误诊、漏诊,X线上消化道钡餐造影检查对临床作出正确诊断有重要帮助。     

胰腺肉瘤样癌2例报道并文献复习

胰腺肉瘤样癌是非常罕见的胰腺恶性肿瘤，发病率占胰腺非内分泌恶性肿瘤的2%~7%，患者多无特异性临床症状，临床及影像学诊断困难。本文报道2例胰腺肉瘤样癌的临床资料并结合文献复习，探讨其CT检查表现，以期为该病的诊断及治疗提供帮助。     

胰腺实性假乳头状瘤7例CT诊断报告

胰腺实性假乳头状瘤(SPTP)是一种少见的良性或低度恶性的胰腺肿瘤,临床表现不典型,术前误诊率高.现回顾分析2007 年1 月至2011 年1 月我院收治的7 例经手术病理及免疫组化检查证实为SPTP 的病案资料,探讨其CT 表现及特征,并复习相关文献,旨在提高对该病的术前诊断水平.     

福建地区遗传性高铁血红蛋白血症

遗传性高铁血红蛋白血症是一种主要由ＮＡＤＨ－细胞色素ｂ５还原酶（ｂ５Ｒ）缺陷所引起的遗传病,临床上分Ⅰ型和Ⅱ型。２０世纪８０年代以来,由于ｂ５Ｒ活性测定方法的建立,国内一共检出１１个患病家系,其中６个在福建地区。通过分子生物学方法对患者ｂ５Ｒ基因进行分析发现,在福建地区的６个家系中,有３个家系患者为Ａｒｇ５６Ｇｌｎ突变的纯合子,２个家系患者为Ｌｅｕ７２Ｐｒｏ突变的纯合子,１个家系患者为Ａｒｇ５７Ｇｌｎ突变与Ｃｙｓ２０３Ｔｙｒ突变的杂合子。所有家系的患者均为Ⅰ型,未发现Ⅱ型患者。福建地区可能是遗传性高铁血红蛋白血症的相对高发区。     

Plasma-derived human factor X concentrate for on-demand and perioperative treatment in factor X-deficient patients: pharmacology,pharmacokinetics, efficacy,and safety

Introduction: Hereditary factor X (FX) deficiency is a rare autosomal recessive bleeding disorder characterized mainly by mild-to-severe bleeding into the mucous membranes, muscles or joints. Previously, treatment options for hereditary FX deficiency were limited mostly to products that may not specify FX content (i.e. fresh frozen plasma and prothrombin complex concentrates) and that have associated safety concerns. To meet the need for a single-factor replacement therapy specifically for use in FX-deficient patients, a high-purity, high-potency, human plasma-derived FX concentrate (pdFX; Coagadex®; Bio Products Laboratory, Elstree, UK) has been developed and approved for treatment of perioperative bleeding and on-demand treatment in FX-deficient patients.

Areas covered: The pharmacology, efficacy, and safety of pdFX are discussed, with a review of preclinical studies and clinical trial data that led to regulatory approval of pdFX in the United States and Europe.

Expert opinion: As the first single-factor replacement therapy indicated for hereditary FX deficiency, pdFX is a safe and efficacious treatment option in patients aged ≥12 years with hereditary FX deficiency. Clinical studies of pdFX provide a dosing regimen for use in cases of bleeding episodes, surgery, and prophylaxis. Further studies are ongoing regarding use of pdFX long term and in patients aged ≤12 years.     

遗传性出血性毛细血管扩张症的临床研究

目的探讨遗传性出血性毛细血管扩张症患者的临床特征、诊断方法及发病机制。方法结合文献报道,分析11例遗传性出血性毛细血管扩张症患者的临床表现、相关辅助检查、染色体变异和遗传病族谱。结果11例患者中多数有鼻衄症状,全部患者均存在不同程度的皮肤或黏膜下毛细血管扩张,影像学检查发现患者中8例患者存在不同部位的内脏动静脉畸形,行染色体检查的9例患者均发现不同位点的基因突变,10例患者有本病相关家族史。结论遗传性出血性毛细血管扩张症是一种显性常染色体遗传性疾病,影像学检查、染色体分析和遗传学族谱分析是诊断本病的有力方法。     

原发性淀粉样变并发凝血因子Ⅶ缺乏

目的探讨原发性淀粉样变并发凝血因子Ⅶ缺乏的临床特征、发病机制及治疗方法。方法对1例原发性淀粉样变并发凝血因子Ⅶ缺乏的患者进行病史采集、体格检查和实验室检查，并行组织学活检，结合文献分析其发病机制，探讨治疗方法。结果该患者有自发性肌肉出血、皮肤黏膜出血、上消化道出血，肝脾肿大，凝血酶原时间（PT）、活化部分凝血酶原时间（APTT）延长，凝血因子检查Ⅶ因子活性明显降低，组织活检证实为淀粉样变性。结论淀粉样变并发凝血因子Ⅶ缺乏临床上少见，国内外罕见报道，目前认为原发性淀粉样变性并发凝血因子缺乏的机制是凝血因子与淀粉样变纤维结合，沉积在组织中。本病以化疗为主，远期疗效差。有严重出血或需行手术患者可予输注凝血因子治疗。     

2A型血管性血友病的临床研究

目的　研究 2 A型血管性血友病 (v WD)的临床表型。方法　对 5 3例具有先天性出血性倾向的患者进行了出血时间 (BT)、血浆凝血酶原时间 (PT)、活性化部分凝血激酶时间 (APTT)、凝血酶时间 (TT)及瑞斯托霉素诱导的血小板聚集功能、血浆 v WF:Ag的检测。结果　初步诊断 2 A型血管性血友病 4例 ,其中女性 2例 ,男性 2例。结论　 2 A型血管性血友病是质异常的常见类型 ,其临床表现具有高度异质性。     

Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhages: a case report

Congenital afibrinogenemia is a rare autosomal recessive disease caused by markedly reduced or absent synthesis of fibrinogen. Consanguinity is common in affected family. Clinical manifestations range to minimal or moderate bleeding to catastrophic haemorrhage. Bleedings are often post-traumatic, sometimes spontaneous. Diagnosis is established by laboratory tests presenting trace or absence of fibrinogen. Substitutive treatment with fibrinogen concentrates or fresh frozen plasma is used. The authors reported the case of a 41-year-old male with congenital afibrinogenemia with fatal spontaneous cerebral haemorrhage. Diagnosis was made upon history, bleeding history, clinical examination, blood coagulation tests and radiography. Cerebral haemorrhage must be suspected in any patient presenting blood coagulation disorders with bleeding history. Drug therapy must be installed immediately and continued before obtention of specific radiology images which are often late in relation to clinical signs.     

公告

微量元素锌与人体健康有密切关系。儿童处于生长发育的快速阶段,锌缺乏可导致儿童生长迟缓。成人和老年人也可因锌元素缺乏而导致心血管病等疾病。因此,在思想上应对微量元素摄入引起足够的重视,早发现、早预防锌元素缺乏症,减少微量元素对儿童、成人、老年人身体健康的影响。     

There is an increased risk of atherosclerosis in hereditary angioedema

BackgroundHereditary angioedema is associated either with a deficiency in the amount or in the function of the C1 inhibitor (C1 INH).ObjectiveIn this study the endothelial function of HAE patients was investigated to evaluate the impact of hereditary C1-INH deficiency on atherosclerosis, which has not yet been established before.MethodsA total of 26 patients (14 female, 12 male. Mean age: 38 ± 13) diagnosed with HAE and 30 healthy controls were enrolled in the study. Measurement of coronary flow reserve (CFR) in the left anterior descending coronary artery was performed using transthoracic doppler harmonic echocardiography at baseline and following dipyridamol infusion. The intima-media thickness (IMT) in the carotid artery was measured using an echocardiographic system equipped with 10 MHz linear transducer (Vingmed System Five).ResultsThe mean CFR value for the HAE patient group was significantly lower than that of the control group (p < 0.001). The mean IMT was not found to be significantly different between the two groups, although it was slightly higher in the HAE patient group. No correlation was found between the CFR and the disease severity scores, nor was it shown between the CFR values and the duration of danazol treatment.ConclusionOur results indicate that there is a microvascular endothelial dysfunction in HAE patients. Although carotid intima media thickness of these patients was not significantly increased, the presence of microvascular endothelial dysfunction might be regarded as an early indicator of a premature atherosclerosis.     

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

Background: Hereditary tyrosinaemia type 1 is a rare inherited metabolic condition, which leads to a fatal multisystemic disease in childhood. Since 1992, nitisinone – a compound developed from work on triketone herbicides – has become an effective pharmacological treatment by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase. Objectives: This review examines recent pharmacological and clinical literature on nitisinone, and assesses its impact as a pharmacological treatment for hereditary tyrosinaemia type 1. Methods: English language literature from MedLine and EmBase for nitisinone was searched from 1990 to 2008 for all papers relevant to the use of nitisinone in hereditary tyrosinaemia type 1. Conclusions: Nitisinone can prevent the development of liver disease and significantly reduce the risk of developing hepatocellular carcinoma; however, vigorous surveillance for the development of HCC needs to be continued lifelong.     

Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency

The protein C pathway has an important function in regulating and modulating blood coagulation and ensuring patency of the microcirculation. Protein C deficiency leads to macro- or microvascular thrombosis. Hereditary severe protein C deficiency is a life-threatening state with neonatal purpura fulminans. Patients with heterozygous protein C deficiency have an increased risk for thromboembolic events or coumarin-induced skin necrosis. Secondary protein C deficiency occurs during disseminated intravascular coagulation (DIC), sepsis (especially meningococcal sepsis with purpura fulminans), liver failure and vitamin K deficiency. Replacement with protein C concentrates is an established treatment for congenital protein C deficiency. The high-purity, plasma-derived protein C concentrate Ceprotin (Baxter AG, Vienna, Austria) is approved for this indication, but its use in acquired deficiency states is not approved. Several case series demonstrated beneficial effects in infectious purpura fulminans and DIC, but no controlled studies for these indications exist. Protein C concentrate may therefore be given off-label in such cases. Protein C concentrate has an excellent safety profile: no drug interactions, overdose or bloodborne infections, bleeding or prothrombotic complications have been observed. As with all protein preparations, a potential risk of hypersensitivity reactions exists.