Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 ± 5.4 years and 8.9 ± 5.6 years). Renal ultrasound was performed, and office blood pressure (BP), ambulatory BP, creatinine clearance and proteinuria were measured. The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 ± 12.5 vs 3.0 ± 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 ± 1.22 standard deviation score (SDS) vs 0.17 ± 1.03 SDS, P = 0.045, and 1.19 ± 1.42 SDS vs 0.12 ± 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 ± 0.10 vs 0.86 ± 0.05, P = 0.021 and 0.94 ± 0.07 vs 0.89 ± 0.04, P = 0.037, successively). There were no significant differences in office BP, creatinine clearance or proteinuria. Prenatal renal cysts (14%), hypertension defined by ambulatory BP (27%) and enlarged kidneys (32%) were observed only in the PKD1 children. This is the first study on genotype–phenotype correlation in children with ADPKD. PKD1 children have more and larger renal cysts, larger kidneys and higher ambulatory BP than do PKD2 children. Renal cysts and enlarged kidneys detected prenatally are highly specific for children with PKD1.     

Hypertension Is a Risk Factor for Fractures

To study the effects of hypertension and other cardiovascular risk factors on risk of fractures, we carried out a case-control study including 124,655 fracture cases and 373,962 age- and gender-matched controls. The main exposure was hypertension, stroke, acute myocardial infarction, ischemic heart disease, atrial fibrillation, peripheral arterial disease, and deep venous thromboembolism, and the main confounders were use of diuretics, antihypertensive drugs, organic nitrates, vitamin K antagonists, and cholesterol lowering drugs along with other confounders. Hypertension and stroke were the only significant risk factors in both the short-term (OR = 1.27, 95% CI = 1.20–1.34 and 1.24, and 95% CI = 1.16–1.31 for ≤3 years since diagnosis of hypertension and stroke, respectively) and the long-term (OR = 1.11, 95% CI = 1.00–1.23 and 1.09, and 95% CI = 1.02–1.18 for > 6 years since diagnosis of hypertension and stroke, respectively) perspective. Acute myocardial infarction, atrial fibrillation, and deep venous thromboembolism were all associated with a transient increase in the risk of fractures within the first 3 years following diagnosis. Peripheral arterial disease and ischemic heart disease were not associated with an increased risk of fractures. In conclusion, hypertension and stroke seem to be the major cardiovascular risk factors for fractures, whereas acute myocardial infarction, atrial fibrillation, and deep venous thromboembolism seem to be only minor risk factors. The fracture risk in hypertension may explain why antihypertensive drugs as a class effect are associated with a decreased risk of fractures. These drugs may counter some of the deleterious effects of high blood pressure.     

Feasibility study for the centralized measurement of sperm concentration

Despite several efforts to standardize methods of semen analysis, sperm count is known to be subject to large interlaboratory differences. This is especially a problem in multicentre clinical trial settings and protocols for the preparation of semen for centralized assessment of sperm concentration are suggested here. The stability of semen has been tested after fixation with formalin at different dilutions and at different temperatures for different sperm concentrations. Sperm concentrations in formalin-fixed semen (at dilutions 1 + 0.5 to 1 + 19) were stable (<20% difference from original) at all concentrations (0.1 x 10(6)/mL to 100 x 10(6)/mL) for at least 5 days at room temperature and 4 degrees C. Prolonged stability up to 5 weeks at 4 degrees C was demonstrated for the lower dilutions (1 + 0.5 and 1 + 1). Freezing of fixed semen samples was unacceptable. These results illustrate that centralized assessment of sperm concentrations is feasible.     

异丙酚对上腹部手术病人血小板聚集及凝血功能的影响

目的评价异丙酚麻醉对病人血小板聚集及凝血功能的影响。方法41例择期行上 腹部手术病人,ASA I或Ⅱ级,年龄24-56岁,体重46—75 kg。静脉注射异丙酚、芬太尼、维库溴铵行 麻醉诱导,气管插管后行异丙酚靶控输注(TCI)麻醉,设定效应室靶浓度4μg／ml。分别于麻醉诱导前 (T0)、术前异丙酚TCI 30 min(T1)、术前异丙酚TCI 60 min(T2)、术前异丙酚TCI 120 min(T3)采集静脉 血,比浊法测量血小板最大聚集率,双波长荧光比值法测定血小板内游离Ca2 浓度([Ca2 ]i),以及测 定血栓弹性描记图参数和凝血四项指标:血浆部分凝血活酶时间、血浆凝血活酶时间、凝血酶原时间、 血浆纤维蛋白原浓度。结果与T0相比,T1-3时血小板最大聚集率及激活后[Ca2 ]i峰值均下降(P <0．01),静息状态[Ca2 ]i差异无统计学意义,凝血功能参数差异无统计学意义(P>0．05)。结论 异丙酚通过抑制Ca2 内流对血小板聚集产生抑制作用,而对凝血功能无明显影响。     

慢性低灌注性脑缺血再灌注后大鼠血脑屏障通透性的改变

目的通过敏感的荧光方法,定量分析慢性低灌注性脑缺血再灌注后大鼠血脑屏障(BBB)的通透性。方法雄性Wistar大鼠35只。大鼠分为模型再灌注组(n=25),模型不灌注组(n=5)和对照组(n=5)。模型再灌注组和模型不灌注组行右侧颈总动脉和颈外静脉端端吻合,同时结扎上矢状窦,建立大鼠脑动静脉瘘的动物模型;对照组单纯行右侧颈总动脉结扎。2周后,每组大鼠实验结束前2h尾静脉注射伊文思蓝(EB)。模型再灌注组阻断右侧颈总动脉和颈外静脉吻合部位形成缺血再灌注,采用EB荧光定量的方法分别观察再灌注2、3、9、24、48h时BBB的通透性。结果再灌注2h时,脑组织EB的含量为(0.935±0.166)μg/g,与对照组(0.489±0.132)μg/g相比显著增高(P<0.05),与模型不灌注组(0.713±1.217)μg/g相比显著增高(P<0.05)。再灌注24h达高峰,为(5.231±1.183)μg/g,再灌注48h趋于平稳,为(5.522±1.124)μg/g。结论慢性低灌注性脑缺血BBB通透性2周后增高;再灌注后2hBBB的通透性增高更具明显,再灌注24h达高峰,再灌注48h趋于稳定。     

腹腔动脉和肠系膜上动脉狭窄的介入治疗

目的评价介入技术治疗腹腔动脉（CA）和肠系膜上动脉（SMA）狭窄的安全性和临床疗效。方法对8例CA／SMA局限性狭窄患者进行了经皮穿刺经腔球囊血管成型术（PTA）和支架置入术,单纯CA狭窄2例、单纯SMA狭窄4例、CA和SMA均有狭窄2例。4例患者有典型进餐后腹痛,5例有上腹部血管杂音,8例于发病后均有不同程度的体重下降（平均8kg）。7例患者病因为动脉硬化,1例为膈肌中脚压迫综合征（MALS）所致。结果PTA和支架置人均成功,其中治疗CA狭窄3例、SMA狭窄5例,7例用1个支架,1例用2个支架。治疗结束时复查造影显示置人支架的血管血流通畅,管径接近正常。术后于穿刺侧腹股沟区出现小血肿2例,无须外科处理、自行吸收。术后腹痛完全消失5例、有所减轻2例、无改善1例;术后3个月时,体重恢复至发病前水平者6例。8例患者随访6-72个月（平均42个月,中位值28个月）,复查Doppler超声波无明确再狭窄证据。5例无症状、1例仍然有间歇性腹痛,2例分别于术后14个月、24个月死于其他原因。结论PTA和支架置入术是治疗CA、SMA局限性狭窄的安全有效方法,尤适宜于存在外科治疗高风险的患者。     

腔内修复术治疗破裂性主动脉瘤

目的探讨腔内修复术（EVR）治疗破裂性主动脉瘤（RAA）的安全性、可行性、有效性和存在的问题。方法术前应用CT、磁共振成像对14例RAA患者进行诊断,评估病变近、远端血管锚定区条件。对存在休克的患者进行积极的抗休克治疗。支架型人工血管在X线透视下经股动脉被释放在RAA的预定位置。结果瘤体破裂距实施EVR时间50min～21d;3例存在大量左侧胸腔积血,2例患者在出血性休克的状态下进行手术。5例应用分叉形支架型人工血管,9例应用直筒形支架型人工血管。随访1～38个月,1例破裂性胸主动脉瘤术后第4个小时死亡,1例创伤后腹主动脉假性动脉瘤术后9个月因左侧脓胸死亡,其余患者均生存,无并发症。结论EVR治疗RAA是安全、可行和有效的,可能成为治疗RAA的有效方法。但对近、远端锚定区条件差的病变和不能熟练完成常规主动脉瘤EVR的单位应慎重进行RAA的腔内治疗。     

Therapeutic effect of cisapride on gastric injury following hemorrhagic shock resuscitation in rats

Whenshockandtraumaoccur, stomachisoneofthetargetorganswhichcaneasilybeharmed,1acutegastricmucosalesionisalatentandfatalthreattothoseclinicalcriticallyillpatients.Aresearchshowsthattreatmentofgastricmotilityishelpfultoreducedeathrateofcriticallyillpatients…     

Patients with long bone fracture have altered Caveolin-1 expression in their peripheral blood mononuclear cells

Introduction  Fracture triggers a cascade of systemic and local responses including inflammatory mediator signaling, chemotaxis, osteogenic cell recruitment, differentiation and proliferation at the fracture site. Early signaling between immune cells and repair cells in fracture repair is not well understood. Caveolin-1, a 21–24 kDa membrane protein plays key roles in transmembrane signaling. This study was to investigate the expression of caveolin-1 in human peripheral blood mononuclear cells (PBMNCs) following long bone fracture. Methods  PBMNCs were obtained from healthy volunteers or fracture patients at three time points following fracture by density-gradient-centrifugation procedure. Caveolin-1 gene expression and protein characterization was examined by semi-quantitative RT-PCR, immunocytochemistry and Western blot analysis. Results  Caveolin-1 mRNA and protein was expressed at low levels in the PBMNCs of non-fracture samples. In contrast, caveolin-1 expression was greatly increased in the PBMNCs of fracture patients 9–12 days and reduced at 16–21 days following long bone fracture. Conclusion  The identification of caveolin-1 in PBMNCs and osteoblasts makes this cellular domain a new focus for further investigation. We speculate that caveolin-1 expression in PBMNCs and osteoblasts play an important role in signal transduction during the early stages of fracture healing and may be an indicator for normal or abnormal fracture repair.     

Ambulatory blood pressure monitoring in healthy children with parental hypertension

The aim of this study was to compare ambulatory blood pressure monitoring (ABPM) parameters in offspring with at least one hypertensive parent (HP) to offspring with normotensive parents (NP) and to determine whether gender of parent or child might influence the association between parental hypertension and blood pressure (BP). Eighty-nine healthy children (mean age 11.1 ± 3.9 years) with HP and 90 controls (mean age 10.5 ± 3.1 years) with NP were recruited. Age, gender, and height did not differ between the two groups, whereas children of HP had higher weight, body mass index (BMI), and waist circumference compared with healthy controls. No difference was found in casual BP between the two groups. In contrast, during ABPM daytime and nighttime mean systolic and diastolic BP and mean arterial pressure (MAP) standard deviation scores (SDS) were significantly elevated in children with HP. The mean percentage of nocturnal BP decline (dipping) was not significantly different between the two groups. Children with hypertensive mothers had higher daytime systolic and MAP SDS than controls; no such difference was detected for children with hypertensive fathers. Daytime systolic and MAP SDS were significantly elevated in boys with HP compared with boys with NP but failed to be significant in girls. Multiple linear regression analysis showed that parental history of hypertension (B = 0.29) and BMI (B = 0.03) were independently correlated with increase of daytime MAP SDS. Early changes in ambulatory BP parameters were present in healthy children of HP. BP in HP offspring was influenced by the gender of the affected parent and the offspring.