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F. Furlan R. Santer E. Vismara F. Santus G. Sersale F. Menni R. Parini 《Journal of inherited metabolic disease》2006,29(5):685
Summary A patient with early bilateral nuclear cataracts and subsequent diagnosis of Fanconi–Bickel syndrome is described. Despite
impaired galactose and glucose metabolism, cataracts have been reported in only few cases with this disorder. We conclude
that Fanconi–Bickel syndrome should be considered in the differential diagnosis of neonatal cataracts. The pathogenesis of
this complication has not been fully elucidated.
Electronic supplementary material Supplementary material is available for this article at 相似文献
43.
BACKGROUND: Ankle brachial index(ABI)is widely involved in researches and clinical application of peripheral vascular injury of patients with diabetes (DM);however ,the application in cerebral infarction(CI)is rare.OBJECTIVE: To investigate the possible risk factor of cerebral infarction plus peripheral arterial disease(PAD),compare metabolic characteristics of patients who having CI plus PAD or only having CI,and understand the significance of ABI on screening and diagnosing CI plus PAD of lower limb.DESIGN: Contrast observation based on CI patients.SETTING: Deparment of Neurology,Nanxishan Hospital of Guangxi Zhang Autonomous Region.PARTICIPANTS:A total of 124 CI patients were selected from Department of Neurology.Nanxishan Hospital of Guangxi Zhuang Autonomous Region from July 2005 to April 2006,including 72 males and 52 females aged from 45 to 88 years.All patients met the diagnostic criteria of cerebrovascular disease established by National Academic Conference of Cerebrovascular Diseases in 1995 and determined as cerebral infarction with MRI or CT examination.All patients provided informed consent.There were 46 cases(37.2%)with CI plus PAD and 78 cases(62.8%)only with CI.METHODS: Blood pressure of bilateral ankles and upper extremities was measured at plain clinostatism with DINAMAP blood pressure monitor(GE Company).The ratio between average systolic pressure of lateral ankle and average systolic pressure of both upper extremities was regarded as ABI.The normal ABI was equal to or more than 0.9.If ABI<0.9 occurred at one side,patients were diagnosed as PAD.On the second morning after hospitalization,blood was collected to measure fasting blood glucose(FBG),2-hour postprandial blood glucose(PBG2h),glycosylated hemoglobin(HbAlc),triglycerides(TG),total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C)and low-density lipoprotein cholesterol(LDL-C).Among them,blood glucose.lipid and other biochemical markers were measured with enzyme chemistry assay and HbA1c was measured with HbA1c meter based on high liquid phase.Measurement data and enumeration data were compared with t test and Chi-square test.and multiple factors were deat with Logistic regression analysis and multivariate linear regression analysis.MAIN OUTCOME MEASURES: Results of correlation between ABI and metabolic markers with multivariate linear regression analysis;risk factors of CI plus PAD with Logistic regression analysis;comparisons of metabolic markers between PAD and non-PAD patients.RESULTS:All 124 patients with acute CI were involved in the final analysis.①Comparisons of metabolic markers:Levels of serum LDL-C and uric acid(UA)were higher of PAD patients than those of non-PAD patients(t=2.051 9,3.339 1,P<0.05);however,there were no significant differences among other metabolic markers(P>0.05).②Results of multivariate linear regression analysis:PBG2h,LDL.C and UA were obvious correlation with ABI of posterior tibial artery of lower limb and dorsal pedis artery rpartial regression coefficient:-0.231 to-1.010,P<0.05).③Risk factors of CI plus PAD with Logistic regression analysis:Age.Smoking history,sum of CI focus(≥3)and LDL-C were independent risk factor of CI plus PAD(OR=1.524-5.422,P<0.05-0.01 ).CONCLUSION:①Levels of serum LDL-C and UA of patients with CI plus PAD are high.②ABI of lower limbs is correlation with PBG2h,LDL-C and UA.In addition,measuring ABI is beneficial for early diagnosing PAD of lower limbs of patients who have poorly controlled blood glucose,abnormal lipid and poor renal function.③Age,LDL-C and sum of CI focus(≥3)are independent risk factors of CI plus PAD.It is of significance for screening non-PAD patients to evaluate risk degrees and prognosis and select therapeutic methods based on ABI measurement. 相似文献
44.
BACKGROUND/PURPOSE: Sensitive skin is a condition associated with reduced tolerance to environmental factors and/or the application of topical products, such as cosmetics. Its pathophysiology has not been fully elucidated and few data are available on its prevalence. The aim of this study was to investigate possible correlation between objective sensitivity and skin surface microrelief. METHODS: During an epidemiological survey conducted for a campaign promoted by International Society of Plastic Dermatology in Italy, 243 adult healthy subjects of both sexes with no evident dermatological disorder but positive to the lactic acid stinging test, were submitted to cyanoacrylate stratum corneum stripping from the volar forearm for the determination of the irregularity of the skin surface microrelief (irregularity skin index (ISI)). RESULTS: A significant correlation was found between intensity of symptoms in stingers and ISI (r(s)=-0.47; P<0.001). CONCLUSION: Sensitive skin is common in the healthy population. ISI can contribute towards the identification of subjects with sensitive skin and the development of more specific skin treatments for this prevalent condition. 相似文献
45.
经皮椎弓根技术治疗胸腰椎骨折的临床探讨 总被引:2,自引:0,他引:2
目的:探讨微创经皮椎弓根螺钉内固定手术治疗胸腰椎骨折的可行性及其疗效。方法:20例胸腰椎骨折病例,男13例,女7例;年龄28~65岁,平均48·2岁。其中16例损伤平面以下无神经功能损害、无双下肢和大小便障碍;4例有不同程度的脊髓损伤,按Frankel分级:C级1例,D级3例。在C形臂X线的定位下确定需要固定的椎弓根根部,做4个1·5cm长的切口,固定与复位均在4个小切口内完成。结果:所有病例均获随访,时间9~18个月,平均15个月。术后患者椎体高度均有不同程度恢复,椎体后凸畸形获得不同程度矫正。手术时间约1·5h,出血量约80ml。结论:微创经皮椎弓根螺钉内固定手术操作简便、安全可靠,具有创伤小、出血少、疼痛轻、恢复快、住院时间短等优点。 相似文献
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Abstract It is well established that thrombolytic therapy increases the risk of secondary intracerebral hemorrhage in ischemic stroke
patients. However, the term “intracerebral hemorrhage” (ICH) covers a wide spectrum from tiny spots of blood to massive space-occupying
hematoma. We will review the etiology and clinical consequences of secondary hemorrhage after thrombolysis in ischemic stroke
patients and discuss the ability of magnetic resonance imaging (MRI) to predict this phenomenon. MRI is a highly sensitive
tool for detection of hemorrhagic transformation after ischemic stroke. The definitions of a so-called symptomatic hemorrhage
after ischemic infarction differ considerably and will also be described. Attributing a causal relationship of a clinical
deterioration to a secondary hemorrhage is not easy and should be only addressed when it exceeds at least 30% of the infarct
volume. In other patients, secondary hemorrhage might be regarded as side effect of reperfusion within the region with the
most severe perfusion deficit. Cerebral microbleeds (CMBs) are a frequent finding in patients with leukoaraiosis and appear
to be a general marker of various types of bleeding- prone small vessel disease and a predictor of recurrent vascular events.
Current data do not support the hypothesis that the detection of CMBs is a useful diagnostic criterion for the exclusion of
patients with CMBs from thrombolytic therapy. However, an increased risk for the rare patients with numerous CMBs can not
be ruled out.
相似文献
50.
Access to good-quality health services is crucial for the improvement of many health outcomes, such as those targeted by the
Millennium Development Goals (MDGs) adopted by the international community in 2000. The health-related MDGs cannot be achieved
if vulnerable populations do not have access to skilled personnel and to other necessary inputs. This paper focuses on the
geographical dimension of access and on one of its critical determinants: the availability of qualified personnel. The objective
of this paper is to offer a better understanding of the determinants of geographical imbalances in the distribution of health
personnel, and to identify and assess the strategies developed to correct them. It reviews the recent literature on determinants,
barriers and the effects of strategies that attempted to correct geographical imbalances, with a focus on empirical studies
from developing and developed countries. An analysis of determinants of success and failures of strategies implemented, and
a summary of lessons learnt, is included. 相似文献