Ⅱ型膜增殖性肾小球肾炎分子遗传学研究进展

Ⅱ型膜增殖性肾小球肾炎是一种罕见的有遗传倾向的肾脏疾病,易感基因主要是补体替代途径活化的关键调控基因-补体因子H.迄今共发现了7例患者含有补体因子H的突变,均为纯合及复合杂合突变,遗传方式为常染色体隐性遗传.在分子遗传学上它与非典型溶血尿毒综合征、年龄相关的黄斑退行性病变和C3肾小球肾炎有着密切的联系.     

新生儿无症状低血糖发生状况及其相关因素分析

目的:了解新生儿无症状低血糖的发生状况并探讨导致其发生的相关因素。方法:对河南科技大学第一附属医院2009年1月～2010年7月出生的1 477例新生儿常规进行血糖监测,并对52例无症状低血糖新生儿进行相关因素分析。结果:①该组病例中,无症状新生儿低血糖发生率为3.6%。新生儿无症状低血糖组平均血糖水平为(1.779±0.276)mmol/L,有症状低血糖组血糖水平为(1.393±0.374)mmol/L,两组比较有统计学差异(P<0.001)。②早产儿、产妇和患儿伴有相关疾病或合并症更易诱发伴有临床症状的新生儿低血糖(P<0.05)。结论:新生儿无症状低血糖容易被临床医务人员忽视,血糖筛查可有效地降低其引发的不良后果。     

大黄对不同病因所致慢性肾衰的疗效

将127例慢性肾衰(CRF)非透析患者根据病因与治疗方法分四组进行前瞻性临床治疗研究,以探讨不同病因CRF的特点及其对大黄治疗的反应。经过平均22.4±10.2(6～57)个月的随访研究发现:①不同病因的CRF各具特点,肾炎引起的CRF较肾功能水平相当的小管间质疾病者病情发展快,远期存活率低,高血压发生率高,蛋白尿及高胆固醇血症明显,并以男性患者居多;②大黄能够延缓CRF的进展,减轻蛋白尿,改善低蛋白血症,纠正脂质代谢异常,提高患者的生活质量;③大黄对肾炎所致CRF的治疗作用较小管间质疾病所致者更为显著。     

Glucose-insulin interaction in obese individuals with asymptomatic reactive hypoglycemia

Summary The interrelationship of glucose and insulin was investigated in obese nondiabetic subjects with asymptomatic reactive hypoglycemia. Results were compared to those obtained from obese control subjects and normal individuals. The diagnostic criteria for asymptomatic reactive hypoglycemia were the appearance of blood glucose values of 40 mg/dl and below during the postabsorptive phase of a 6-h OGTT and the absence of related symptoms. The blood glucose nadir occurred earlier in obese hypoglycemics than in obese controls. Maximum insulin response was similar in both obese groups, but occurred significantly later in obese hypoglycemics than in obese subjects without hypoglycemia and normal subjects. In obese hypoglycemics the blood glucose nadir was inversely proportional to the time of the insulin peak (i.e. the later the insulin peak the lower the blood glucose nadir) but correlated poorly to maximum insulin values. Delayed insulin response was found to be the major abnormality in asymptomatic reactive hypoglycemia and a probable cause of the decreased ability to maintain post-hyperglycemic glucose homeostasis. Decreased glucose tolerance in some obese hypoglycemics pre-treated with prednisolone suggests that asymptomatic reactive hypoglycemia could be the manifestation of an early diabetic stage.     

无症状胆石症患者胆囊运动功能及阿期匹林的作用

为研究无症状胆囊结石患者胆囊动力变化及阿斯匹林的影响． 采用腹部超声法观察４３例无症状胆囊 结石（ＡＧ）患者和 ２０名健康对照服用阿斯匹林（０．３／日．６天）前后胆囊容量的变化，结果：（１）ＡＧ组空腹胆囊容积 （ＦＧＶ）和剩余胆囊容积（ＲＧＶ）明显增大（Ｐ＜０．０１），胆羹排空率（ＧＥＲ）明显减少（Ｐ＜０．０１）．无论在快速排空或 缓慢排空期．ＡＧ组胆囊排空功能均有明显损害；（２）服用阿斯匹林后未观察到正常组（ＨＳ）和ＡＧ组织胆囊排空率 的改善。提示．ＡＧ组存在胆囊动力障碍，胆囊排空功能障碍可能是胆囊结石成因之一：前列腺素抑制剂阿斯匹林 对胆囊的动力障碍无改善。     

急进性肾炎Ⅲ型与原发性小血管炎

为了解急进性肾炎（ＲＰＧＮ）Ⅲ型患者的病理、临床以及发病机制的特点。对我院肾内科近３年来收治的本病患者的临床病理资料进行了回顾性研究。结果发现：８例ＲＰＧＮⅢ型患者中５例抗中性粒细胞胞浆抗体（ＡＮＣＡ）阳性，主要为核周型。与ＲＰＧＮⅢ型ＡＮＣＡ阴性组患者相比，ＡＮＣＡ阳性组发病年龄较晚，多数患者有发热、关节痛等肾外表现，血清Ｃ反应蛋白阳性、γ球蛋白升高、大多数血沉更快（＞１００ｍｍ／１ｈ）。病理检查可见肾小球局灶节段性纤维素样坏死，多数患者经积极治疗后肾功能明显好转，并脱离透析，预后较好。支持多数ＲＰＧＮⅢ型是以肾脏受累为主要表现的小血管炎的观点。     

Hepatitis B virus DNA polymerase activity and hepatitis B e antigen (HBeAg)/anti-HBe status among type B chronic liver diseases

To investigate the relationship between hepatitis B virus (HBV) replication and chronic liver disease, age-specific prevalences of HBeAg, anti-HBe, and HBV DNA polymerase (DNAP) activity were studied in 295 asymptomatic HBV carriers and 183 patients with B-type chronic liver diseases. DNAP activity decreased with age, and there was no difference in the overall prevalence of DNAP activity between the asymptomatic carriers (27.8%) and the chronic liver disease patients (27.3%). The prevalence of DNAP activity in the 40-and-over age group was significantly higher for the chronic liver disease patients (17.5%) than for the asymptomatic carriers (1.7%). The prevalence of HBeAg in the 40- and-over age group was also significantly higher for the chronic liver disease patients (33.8%) than for the asymptomatic carriers (2.6%). These data suggest that viral replication decreased with age and that viral replication occurring in older persons closely related to chronic liver disease.     

Electrocardiographic pattern of Brugada syndrome disclosed by a febrile illness: clinical and therapeutic implications.

BACKGROUND: Recent studies have identified a direct link between the ionic mechanisms responsible for the electrocardiographic (ECG) pattern of the Brugada syndrome (BS) and the in vitro experimental temperature, pointing to the possibility that some BS patients may display the ECG phenotype only during a febrile state, being in this setting at risk of lethal arrhythmias. CASE REPORT: A 53-year-old man referred to the emergency room for abdominal pain and fever. The ECG showed dome-shaped ST-segment elevation in V1-V3, as in the typical BS. The personal and family history were unremarkable for syncope and sudden death and physical, laboratory and ultrasound examinations were negative. On day 3, at normal body temperature, the patient's ECG returned to normal and the ECG abnormalities were later reproduced with intravenous flecainide. The patient refused the implantation of a loop recorder and was discharged after 6 days. He has remained asymptomatic during 2 years of follow-up. CONCLUSIONS: The typical ECG phenotype of BS disclosed by a febrile illness confirms the in vitro experimental data that previously established a correlation between ECG pattern of BS and temperature variations. The clinical and therapeutic implications of these findings are discussed.     

A unique presentation of antiphospholipid antibody syndrome in pregnancy

Primary antiphospholipid antibody syndrome (APS) is a protean disease with many manifestations including venous and arterial thrombosis, recurrent foetal loss, preeclampsia, intrauterine growth retardation, cardiac valvular disease, glomerulonephritis, thrombocytopaenia and livedo reticularis. We report an interesting case of a 19-year-old woman where the diagnosis of primary APS was initially made in the peripartum period.