完全型雄激素不敏感综合征2例临床特点及处理

雄激素不敏感综合征(androgen insensitivity syndrome,AIS)又称为睾丸女性化综合征(testicular feminization syndrome,TFS),是一种X连锁遗传病,是男性假两性畸形中较常见的类型,可分为完全型AIS和不完全型AIS,其原因主要是雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗和不应答。本文回顾南京医科大学附属妇产医院2例CAIS患者的临床资料及诊疗过程,以期能进一步提高对该病的认知及诊治水平。     

外源性神经节苷脂相关性吉兰—巴雷综合征的发病机制及诊治研究进展

吉兰―巴雷综合征（GBS）是一种以快速进行性四肢麻木无力为特点的急性炎性脱髓鞘性多发性多神经根神经病。随着外源性神经节苷脂在临床的广泛应用，该药引起的副作用也逐渐显现，外源性神经节苷脂相关性GBS是其最严重的并发症，临床上主要表现为轴索型GBS，以四肢弛缓性瘫痪为首发症状，表现为急性、严重且快速进展的周围神经受累，较其他轴索型GBS病情重，恢复时间长，预后差。目前发病机制尚不明确。静脉注射人免疫球蛋白是其具有循证医学证据的治疗方法，目前已取代血浆置换成为GBS首选治疗方法，推荐剂量为0.4 g/（kg·d），连续静滴5 d，大剂量激素治疗的效果还有待进一步探讨。早发现、早诊断、尽早停用外源性神经节苷脂、及时应用人血免疫球蛋白冲击治疗和康复治疗，可改善预后。     

Gray platelet syndrome: Management of perioperative bleeding in redo cardiac surgery

Gray platelet syndrome (GPS) is a rare (<1/1 000 000) and inherited platelet function disorder characterized by macrothrombocytopenia, α-granule deficiency, and hemorrhages. Bleeding intensity does not correlate with platelet count nor with functional test results. We hereby describe the perioperative bleeding prevention and management of a patient with GPS requiring multiple redo cardiac surgeries.     

Searching for Serum Antibodies to Neuronal Proteins in Patients With Myalgic Encephalopathy/Chronic Fatigue Syndrome

PurposeA role for the immune system in causing myalgic encephalopathy/chronic fatigue syndrome (ME/CFS) is long suspected, but few studies have looked for specific autoantibodies that might contribute to the symptoms. Our aim was to look for evidence of antibodies to neuronal proteins in patients with ME/CSF.MethodsSera samples from 50 patients and 50 healthy individuals were sent coded to the Neuroimmunology Laboratory in Oxford. Screening for antibody binding to neuronal tissue was performed on brain tissue and neuronal cultures. Specific serum antibodies were assessed by antigen-specific cell-based assays and radioimmunoassays. After antibody testing, the associations between seropositive status and clinical data were investigated.FindingsOverall, 8 patients and 11 participants were found to have some serum immunoreactivity toward neuronal or neuromuscular junction proteins, but only 1 patient and 2 participants had specific serum antibodies. Nevertheless, seropositive status in patients with ME was associated with shorter duration since onset and a more severe disease.ImplicationsThe results indicate no overall increased frequency of antibodies to neuronal proteins in ME/CSF and no evidence of a specific antibody that might be causative or contribute to clinical features in patients. However, the association of seropositive status with shorter duration of disease and more severe symptoms suggests a possible role of antibodies at onset in some patients and should be the focus of future studies.     

Risk factors associated with postoperative prosthetic graft patency in Leriche syndrome

Background

In Leriche syndrome, postoperative graft thrombosis remains one of the most significant clinical challenges.

双球囊与缩宫素用于促宫颈成熟以及引产的效果比较

目的比较双球囊与缩宫素用于促宫颈成熟并引产的临床效果。方法选取于2017年7月—2018年7月在本院分娩的足月妊娠孕妇100例为研究对象,随机平均分为观察组和对照组各50例,观察组采用双球囊引产,对照组采用缩宫素进行引产,对比2组孕妇的总产程、宫颈成熟度、引产成功率和新生儿Apgar评分、并发症发生率等。结果观察组促宫颈成熟有效率(100%)、引产成功率(96%)均高于对照组(82%,74%),差异均有统计学意义(P<0.05),治疗后新生儿Apgar评分、并发症发生率差异均无统计学意义(P>0.05);宫颈Bishop评分观察组(9.12±1.42)高于对照组(7.92±1.56),观察组总产程(8.23±2.54)h,对照组(13.45±3.77)h,差异均有统计学意义(P<0.05)。结论双球囊用于妊娠引产效果显著,能明显促进宫颈成熟、缩短产程,保障分娩的顺利进行,安全可靠,值得在临床中推广。