一个遗传性蛋白C缺陷症家系表型与基因突变分析

目的：对一个遗传性蛋白C（PC）缺陷症家系进行实验室表型检测和基因突变分析,探讨其分子发病机制。方法：对先证者及其家系成员（共3代6人）进行血浆蛋白C活性（PC:A）、蛋白C抗原（PC:Ag）含量及其他相关凝血指标检测。采用DNA直接测序法分析先证者蛋白C基因（PROC）9个外显子及侧翼序列,发现突变位点,再对其家系成员进行该位点的突变检测。用ClustalX-2.1-win软件分析氨基酸突变位点的保守性;用PolyPhen-2在线生物信息学软件分析突变对蛋白质功能的危害程度;用Swiss-PdbViewer软件和PIC程序进行蛋白模型分析。结果：先证者、其儿子和二姐的血浆PC:A与PC:Ag均平行下降,介于39%～58%。这3人的PROC基因第9外显子携带c.997G＞A杂合错义突变（p.Ala291Thr）。生物信息学软件分析提示：p.Ala291Thr为有害突变;Ala291在同源物种间不高度保守;蛋白模型分析显示：p.Ala291Thr突变导致Thr291与Pro327之间新增一氢键,改变了氨基酸的空间构型,使PC的稳定性下降。结论：该先证者PROC基因第9外显子存在c.997G＞A杂合错义突变,导致p.Ala291Thr;p.Ala291Thr为未报道过的新突变,是该家系遗传性PC缺陷症的主要原因。     

Bilateral leukocoria in a patient with homozygous protein C deficiency

We describe a bilateral leukocoria and neonatal purpura fulminans in a male infant, born at full term after an unremarkable pregnancy to a healthy consanguineous married couple. Multiple hemorrhagic skin bullae were found at birth on various parts of the body with bilateral leukocoria, organized vitreous hemorrhage, retinal detachment, and intracranial hemorrhage with undetectable levels of protein C activity. We report a clinical case of homozygous protein-C deficiency with severe purpura fulminans and bilateral leukocoria.     

低营养对糖尿病鼠胰岛的影响

用平衡食物对糖尿病鼠进行不同程度的摄食限制１０周后恢复正常摄食４周，观察胰岛功能及形态学变化。结果表明，限制５０％摄食组Ｋｇｔ，空腹血浆胰岛素及第一相胰岛素分泌均较糖尿病对照组明显降低（Ｐ＜０．０１）。而限制３０％摄食组相应值与糖尿病对照组无明显差异，与限制５０％摄食组差异显著。胰腺组织学及超微结构观察：限制５０％摄食组胰岛内β细胞比例减少。电镜下，两限制摄食组β细胞内均见占优势的苍白颗粒及脱颗粒现象。恢复正常喂养后，限制５０％摄食组胰岛功能明显改善（Ｐ＜０．０５）两实验组形态学改变也有恢复。     

Inhibitory Effect of Estrogens,Phytoestrogens,and Caloric Restriction on Oxidative Stress and Hepato-toxicity in Aged Rats

Objective To investigate the protective effect of 17β-estradiol （E2）, peganum harmala extract （PHE） administration and calorie restriction （CR） treatment （60%） on oxidative stress and hepato-toxicity in aged rats. Methods Eighteen months old animals that were treated at the age of 12 months were divided into 4 groups： normal control group with free access to food, E2 treatment group, PHE treatment group and CR treatment group of the food given to control group. Six male rats at the age of 4 months were used as a reference group. Results Aging significantly decreased superoxide dismutase （SOD）, catalase （CAT） and glutathione peroxidase （GPX）, and increased lactate deshydrogenase （LDH）, gamma-glyiamyl transferase （GGT）, pbosphatase alkalines （PAL）, aspartate and lactate transaminase （AST and ALT） activities in the liver. Aging also induced an increased lipid peroxidation level, histological changes and a decreased E2 level. However, treatment with E2, PHE, and CR increased 17β-estradiol, and decreased hepatic dysfunction parameters and lipid peroxidation as well as histological changes in the liver of aged rats. Conclusion The antioxidant and hepatoprotective activity of PHE and CR is possibly attributed to its ability to increase E2 level, which as an antioxidant, acts as a scavenger of ROS. Further studies on the pharmaceutical functions of E2 in males may contribute to its clinical application.     

Type I protein S deficiency and skin necrosis

A kindred with Type I protein S deficiency is described in which the index case developed skin necrosis during induction of oral anticoagulant therapy for deep venous thrombosis. Two other family members with protein S deficiency have been detected, and demonstrate the clinical variability of this condition.     

Some parameters of blood-stasis, yin deficiency, and yang deficiency in patients with remote myocardial infarction

This paper demonstrates some investigations on the differentiation of symptom-complex for old myocardial infarction patients (OMI). Among total 100 cases, 20 cases of blood-stasis type, 28 cases of Yin deficiency type and 52 cases of Yang deficiency type. Several laboratory investigations had been carried out for them. The results indicated the level of HDL-C was decreased, LDL-C was increased, ratio of HDL-C/TC was also decreased, platelet aggregation test (PAgT) was increased, factor VIII related antigen (VIII R: Ag) was elevated, among the above 3 types, especially in Yin deficiency group, showed statistically significant. In Yin deficiency group, the ACG tracing demonstrated late bulge type or in a plateau form, A/E-O greater than or equal to 15%. Yang deficiency group, SV, CO, CI were decreased, when compared with Yin deficiency all P value less than 0.01. Among 3 differentiation symptom-complex, microcirculation changes and degree of blood-stasis were in same appearance.     

安徽蜱类初记

本文报道安徽蜱类2科3属5种。根据调查说明微小牛蜱、翘缘锐缘蜱是本省蜱类优势种。通过扫描电镜观察,对翘缘锐缘蜱的形态,补充了前人的描述,分析了金腰燕是大别山区该种重要宿主的原因。     

Cholesteryl ester transfer protein levels and gene deficiency in Chinese patients with cardio-cerebrovascular diseases

Objective To detect cholesteryl ester transfer protein (CETP) levels, frequencies of CETP D442G and Ⅰ14A mutations and characteristics of abnormal lipids in patients with cardio-cerebro vascular diseases. Methods Ninety-four myocardial infarction (MI) patients,110 stroke patients and 335 healthy controls were selected. The CETP concentration was determined using ELISA. The CETP activity was measured using a substrate of 14 C-radiolabeled discoidal bilayer particles. The CETP gene mutations were detected by PCR-RFLP. Results The CETP concentrations in the MI and stroke group, were higher than those in the controls. The gene mutation frequencies of D442G in the MI, stroke and control group were 3.5%, 3.6% and 5%, respectively, and the frequencies of Ⅰ14A were 1.05%, 0.91% and 1%, respectively. One case of D442G homozygote was detected in the healthy group. The frequency of two CETP gene mutations showed no significant difference among the patients and controls. The CETP concentration and activity in subjects with CETP mutations were one-third of those in the control group. The level of HDL-C, apo-A1 increased in the mutation subjects, while the TG level decreased. Conclusions The CETP level increased significantly in patients with cardio-cerebrovascular diseases. The carriers of CETP deficiency had CETP and lipid abnormalities.     

六君丹参颗粒对气虚痰瘀高血压患者C-反应蛋白及臂踝脉搏波传导速度的影响

目的探究六君丹参颗粒对气虚痰瘀高血压患者C-反应蛋白(CRP)、踝臂指数(ABI)及臂踝脉搏波传导速度(baPWV)的影响。方法选择广东省第二中医院2017年6月至2018年10月期间收治的60例气虚痰瘀高血压患者作为研究对象,按随机数表法将患者分为观察组和对照组,各30例。对照组采用西医常规治疗,观察组在对照组治疗的基础上给予六君丹参颗粒。1个月为一个疗程,治疗5个疗程。比较两组患者治疗前后的CRP、baPWV、ABI、血压及血同型半脫氨酸(Hcy)水平;比较两组患者治疗前后的主症评分、次症评分及不良反应发生情况。结果治疗前,两组患者的左侧和右侧baPWV和ABI比较差异均无统计学意义(P>0.05);治疗后,观察组患者的左侧和右侧baPWV和ABI明显低于对照组,差异均具有统计学意义(P<0.05);治疗前,观察组患者收缩压、舒张压、CRP及Hcy水平分别与对照组比较差异均无统计学意义(P>0.05);治疗后,观察组和对照组患者的收缩压[(130.45±6.87) mmHg vs (137.67±6.18) mmHg]、舒张压[(76.60±6.88) mmHg ...     

Cholesteryl ester transfer protein levels and gene deficiency in Chinese patie nts with cardio-cerebrovascular diseases

Objective To detect cholesteryl ester transfer protein (CETP) levels, frequencies of CETP D442G and Ⅰ14A mutations and characteristics of abnormal lipids in patients wit h cardio-cerebro vascular diseases. Methods Ninety-four myocardial infarction (MI) patients,110 stroke patients and 335 hea lthy controls were selected.The CETP concentration was determined using ELISA .The CETP activity was measured using a substrate of ［14］C-radiol abeled discoidal bilayer particles.The CETP gene mutations were detected by PC R-RFLP. Results The CETP concentrations in the MI and stroke group, were higher than those in th e controls.The gene mutation frequencies of D442G in the MI, stroke and contro l group were 3.5%, 3.6% and 5%, respectively, and the frequencies of Ⅰ14A wer e 1.05%, 0.91% and 1%, respectively.One case of D442G homozygote was detected in the healthy group.The frequency of two CETP gene mutations showed no signi ficant difference among the patients and controls.The CETP concentration and a ctivity in subjects with CETP mutations were one-third of those in the control group.The level of HDL-C, apo-A1 increased in the mutation subjects, while t he TG level decreased. Conclusions The CETP level increased significantly in patients with cardio-cerebrovascular diseases.The carriers of CETP deficiency had CETP and lipid abnormalities.     

Chronic portal vein thrombosis due to combined deficiency of protein C and protein S

Portal vein thrombosis (PVT) is a rare disorder that is associated with a variety of underlying condition of which liver cirrhosis, malignancy and myeloproliferative disorders are the most common. It is of two types, acute and chronic portal vein thrombosis. Anticoagulation therapy is recommended for all patients with acute portal vein thrombosis. Chronic portal vein thrombosis is characterised by the development o f portal hypertension. Bleeding from ruptured varices is the main complication. In the absence of bleeding, continuous anticoagulation therapy should be considered for chronic portal vein thrombosis in whom an underlying prothrombotic factor is to be identified. Here in this report a 13-year-old girl presented with haematemesis. The spleen was hugely enlarged. Her Hb was 8.38 g/dl. Grade III oesophageal varices were found in oesophagogastroduodenostomy. CT abdomen showed portal cavernoma formation with increased splenic collateral. Protein C activity was 45% and protein S activity was 40%. She was treated with beta-blocker, endoscopic variceal ligation followed by low molecular weight heparin and warfarin.     

Granulomatous gastritis, iron deficiency, vitamin B12 malabsorption and immunoglobulin deficiency

A 24-year-old male with recurrent iron deficiency anaemia was found to have a generalized reduction in his immunoglobulin levels, granulomatous gastritis and impaired vitamin B₁₂ absorption corrected by Intrinsic Factor.     

大鼠气虚血瘀肾虚型颈椎病模型的建立

目的：采用病、证模型复合的方法建立大鼠气虚血瘀肾虚型颈椎病模型。方法：选择3月龄雌性SPF级SD大鼠30只,随机分为正常组、颈椎病模型组和气虚血瘀肾虚型颈椎病模型组,每组10只。颈椎病模型采用动静力失衡大鼠颈椎间盘退变模型,气虚血瘀肾虚型颈椎病模型采用动静力失衡大鼠颈椎间盘退变模型复合疲劳加饥饱失常法制造的气虚模型、肾上腺皮质激素和肾上腺素法制造的血瘀模型及去卵巢肾虚模型而制成。通过对大鼠行为体征观察和血液流变学、血小板表面α-颗粒膜糖蛋白（alpha-granular membrane protein,CD62p）、血清雌二醇（estradiol,E2）含量等检测,并用放射免疫法检测血浆环磷酸腺苷（cyclic adenosine monophosphate,cAMP）与环磷酸鸟苷（cyclic guanosine monophosphate,cGMP）含量,验证气虚、血瘀、肾虚证;通过椎间盘组织病理学观察,免疫组织化学法检测椎间盘组织中Ⅱ型、Ⅹ型胶原蛋白含量,实时荧光定量聚合酶链式反应（polymerase chain reaction,PCR）检测颈椎间盘聚集蛋白聚糖（aggrecan-1,Agc1）、Ⅱ型前胶原基因（typeⅡprocollagen gene,Col2a1）、基质金属蛋白酶-13（matrix metalloproteinase-13,MMP-13）和基质金属蛋白酶抑制剂-1（tissue inhibitor of metalloproteinase-1,TI MP-1）的基因表达等评判椎间盘退变情况。结果：病证结合模型大鼠出现精神萎靡、倦怠、舌质瘀紫、尾色瘀青,体质量下降等气虚、血瘀证的表现,cAMP/cGMP降低,低切还原黏度增高,CD62p表达增高,血清E2含量降低。病理提示颈椎间盘组织结构发生退变,Ⅱ型胶原蛋白表达减少,Ⅹ型胶原表达增高,Agc1、Col2a1和TI MP-1的基因表达降低,MMP-13表达增高。结论：建立了大鼠气虚血瘀肾虚型颈椎病模型,气虚血瘀肾虚加重了颈椎间盘退变。     

Splenic rupture following splenic vein thrombosis in a man with protein S deficiency.

We present a case of spontaneous splenic rupture in a man with splenic vein thrombosis. The splenic vein thrombosis appears to have been caused by protein S deficiency. We are not aware of this having been described before.