Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer. Physicians should be aware of these syndromes to identify high-risk patients and offer genetic testing to prevent cancer death. In this review, we describe clinical manifestations, genetic testing and its challenges, diagnosis and management of the major hereditary gastrointestinal cancer syndromes.
Von Willebrand Disease (VWD) is associated with significant morbidity as a result of excessive mucocutaneous bleeding symptoms. Patients with VWD can experience easy bruising, epistaxis, gastrointestinal and oral cavity bleeding, as well as heavy menstrual bleeding and bleeding after dental work, surgical procedures, and childbirth. Early diagnosis and treatment is important to prevent and treat these symptoms. We systematically reviewed the accuracy of diagnostic tests using different cut-off values of VWF:Ag and platelet-dependent VWF activity assays in the diagnosis of VWD. We searched Cochrane Central, MEDLINE, and EMBASE for eligible studies. Two investigators screened and abstracted data. Risk of bias was assessed using QUADAS-2 and certainty of evidence using the GRADE framework. We pooled estimates of sensitivity and specificity and reported patient important outcomes when relevant. This review included 21 studies that evaluated VWD diagnosis, including the approach to patients with VWF levels that have normalized with age (6 studies), VWF cut-off levels for the diagnosis of Type 1 VWD (9 studies), and platelet-dependent VWF activity/VWF:Ag ratio cut-off levels for the diagnosis of Type 2 VWD (6 studies). The results showed low certainty in the evidence for a net health benefit from reconsidering the diagnosis of VWD versus simply removing the disease in patients with VWF levels that have normalized with age. For the diagnosis of Type 1 VWD, in patients with VWF:Ag <0.30 IU/mL, VWF sequence variants were detected in 75-82% of patients in 2 studies, and for VWF:Ag between 0.30-0.50 IU/mL, VWF sequence variants were detected in 44-60% of patients in 3 studies. A sensitivity of 0.90 (95% CI: 0.83 to 0.94), and a specificity of 0.91 (95% CI: 0.76 to 0.97) were observed for a platelet-dependent VWF activity /VWF:Ag ratio of <0.7 in detecting type 2 VWD (moderate certainty in the test accuracy results). VWF antigen and platelet-dependent activity are continuous variables with an increase in bleeding risk with decreasing levels. This systematic review shows that using a VWF activity/VWF:Ag ratio of <0.7 versus lower cutoff levels in patients with an abnormal initial VWD screen is more accurate for the diagnosis of type 2 VWD.
ER is associated with increased risk of VAs in the setting of acute STEMI.
BackgroundIntravenous (IV) amiodarone may be associated with liver injury that may necessitate drug discontinuation. The prediction of amiodarone induced liver injury (AILI) and its severity may help careful patient monitoring or the choice of other measures alternative to amiodarone in high risk patients. Little is known regarding predictors of AILI.ObjectivesTo address the predictors of AILI and its severity.MethodsThe study included 180 patients indicated for IV amiodarone therapy who were divided into 2 groups: cases (90 patients) who developed AILI, and controls (90 patients) who did not develop AILI. AILI was defined as aminotransferase (ALT and AST) elevation by ⩾2 folds of baseline levels. Severe AILI was defined as enzyme elevation by >5 folds of baseline values.ResultsMultivariate analysis showed that the presence of cardiomyopathy (P = 0.032), congestive hepatomegaly (P = 0.001), increasing baseline total bilirubin (P < 0.0001), direct current cardioversion (P = 0.015), and increasing dose of amiodarone (P = 0.014) to be independent predictors for AILI. Regarding severity of AILI, inotropic support (P = 0.034), congestive hepatomegaly (P = 0.012), increasing baseline total bilirubin (P = 0.001), and increasing dose of amiodarone (P = 0.002) were found to be independent predictors for severe AILI. Among cases, linear regression analysis showed that baseline ALT was the only significant independent predictor of post-amiodarone ALT (P < 0.0001), while baseline AST (P < 0.0001) and EF (P = 0.012) were the only significant independent predictors of post-amiodarone AST.ConclusionsCompromised cardiac, hepatic, and hemodynamic conditions, with increasing dose of IV amiodarone were associated with AILI. Severity of liver injury had linear relationship with baseline aminotransferase levels and left ventricular systolic function.
Background: Cigarette smoking is a well known risk factor for cardiovascular disease, however, little is known regarding water pipe (WP) smoking. High sensitivity C-reactive protein (hs-CRP) and flow mediated dilatation (FMD) are well recognized methods to assess cardiovascular risks. Objectives: To study the effect of WP smoking on hs-CRP level and endothelial function compared to cigarette smoking. Methods: The study included 77 male subjects (30 WP smokers, 30 cigarette smokers, and 17 controls). Hs-CRP level was measured using the ELISA technique and the threshold of high risk level was 3 mg/l. FMD was assessed in the brachial artery. Subjects with FMD < 10% were considered to have endothelial dysfunction. The composite of high risk hs-CRP level and endothelial dysfunction was considered as high risk profile. Results: Hs-CRP level was slightly higher in smokers than controls (2.21 ± 1.6 versus 1.73 ± 1.19 mg/l, P = 0.25). FMD was significantly lower in smokers (12 ± 6.66 versus 17.45 ± 11.29%, P = 0.016). There were no significant differences between WP smokers and cigarette smokers regarding hs-CRP level (P = 0.19) and FMD (P = 0.91). In an adjusted regression Abbreviations: WP, water pipe; FH, family history; CAD, coronary artery disease; BMI, body mass index; HR, heart rate; SBP, systolic blood pressure; DBP, diastolic blood pressure; Hs-CRP, high sensitivity C-reactive protein; D1, basal brachial artery diameter; D2, hyperemic brachial artery diameter; FMD, flow mediated dilatation.
Background-The incidence of contrast-induced acute kidney injury is strongly related to the amount of the given contrast.Our objectives were to evaluate the efficacy and safety of coronary sinus aspiration (CSA) procedure to reduce the volume of the given contrast and attenuate the risk of contrast-induced acute kidney injury. Methods and Results-The study included 43 patients with type 2 diabetes mellitus and renal impairment (creatinine 1.5-3 mg/dL) who were candidates for coronary angiography. Eighteen patients were subjected to CSA procedure during coronary angiography (CSA group), and 25 patients served as a control group. Periprocedural standard care was given. In CSA group, the coronary sinus was cannulated via subclavian or femoral venous approaches, and aspiration was done directly from a transseptal sheath (8 patients) or through a balloon occlusion catheter placed through the sheath (10 patients) simultaneously during each coronary injection. Estimated volume of aspirated contrast was calculated based on the percentage reduction in hematocrit value of the aspirate in relation to the patient's baseline hematocrit. Fraction of aspirated contrast was calculated by dividing estimated volume of aspirated contrast over the volume of injected contrast×100. Both study groups were matched in clinical and laboratory data, as well as volume of injected contrast. In CSA group, mean fraction of aspirated contrast was 39.35±10.47%. One patient in the CSA group, compared with 9 patients in the control group, developed contrast-induced acute kidney injury (P=0.028). Conclusions-CSA during coronary angiography could effectively remove more than one third of the given contrast and may reduce the incidence of contrast-induced acute kidney injury in selected patients. (Circ Cardiovasc Interv.
Von Willebrand Disease (VWD) is associated with significant morbidity because of excessive bleeding. Early diagnosis and treatment is important to prevent and treat these symptoms. We systematically reviewed the accuracy of any VWF activity assay in the diagnosis and classification of patients for VWD. We searched Cochrane Central, MEDLINE, and EMBASE for eligible studies. Risk of bias was assessed using QUADAS-2 and certainty of evidence using the GRADE framework. We pooled estimates of sensitivity and specificity. The review included 77 studies that evaluated the use of newer tests of VWF platelet binding activity (VWF:GPIbR , VWF:GPIbM) and VWF:RCo for the diagnosis of VWD (13 studies), VWF propeptide to VWF:Ag ratio and desmopressin trial for the diagnosis of type 1C VWD (5 studies), VWF multimer analysis and VWF:CB/VWF:Ag ratio for the classification of type 2 VWD (11 studies), genetic testing and ristocetin-induced platelet aggregation to diagnose type 2B VWD (14 studies), genetic testing and FVIII:VWF binding to diagnose type 2N VWD (17 studies). Based on available diagnostic test accuracy, there appears to be comparable test accuracy results between newer tests of platelet binding activity of VWF function and VWF:RCo. The findings of these reviews support VWF multimer analysis or VWF:CB/VWF:Ag to diagnose type 2 VWD. The desmopressin trial test with 1- and 4-hour postinfusion blood work is the test of choice to confirm increased VWF clearance in patients with VWD suspected of type 1C. Additionally, genetic testing is most useful in diagnosing type 2B VWD and has a role in the diagnostic algorithm of suspected type 2N VWD.
Background: Von Willebrand Disease (VWD) can be associated with significant morbidity. Patients with VWD can experience bruising, mucocutaneous bleeding, and bleeding after dental and surgical procedures. Early diagnosis and treatment are important to minimize the risk of these complications. Several bleeding assessment tools (BATs) have been used to quantify bleeding symptoms as a screening tool for VWD. Objective: We systematically reviewed diagnostic test accuracy results of bleeding assessment tools (BATs) to screen patients for VWD. Methods: We searched Cochrane Central, MEDLINE, and EMBASE for eligible studies, reference lists of relevant reviews, registered trials, and relevant conference proceedings. Two investigators screened and abstracted data. Risk of bias was assessed using QUADAS-2 and certainty of evidence using the GRADE framework. We pooled estimates of sensitivity and specificity. Results: The review included 7 cohort studies that evaluated the use of BATs to screen adult and pediatric patients for VWD. The pooled estimates for sensitivity and specificity were 75% (95% confidence interval [CI] 66%-83%) and 54% (29%-77%), respectively. Certainty of evidence varied from moderate to high. Conclusion: This systematic review provides accuracy estimates for validated BATs as a screening modality for VWD. A BAT is a useful initial screening test to determine who needs specific blood testing. The pretest probability of VWD (often determined by the clinical setting/patient population), along with sensitivity and specificity estimates will influence patient management.
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