De novo Cancers Following Liver Transplantation: A Single Center Experience in China

Background

De novo cancers are a growing problem that has become one of the leading causes of late mortality after liver transplantation. The incidences and risk factors varied among literatures and fewer concerned the Eastern population.

Aims

The aim of this study was to examine the incidence and clinical features of de novo cancers after liver transplantation in a single Chinese center.

Methods

569 patients who received liver transplantation and survived for more than 3 months in a single Chinese center were retrospectively reviewed.

Results

A total of 18 de novo cancers were diagnosed in 17 recipients (13 male and 4 female) after a mean of 41±26 months, with an overall incidence of 3.2%, which was lower than that in Western people. Of these, 8 (3.32%) cases were from 241 recipients with malignant liver diseases before transplant, while 10 (3.05%) cases were from 328 recipients with benign diseases. The incidence rates were comparable, p = 0.86. Furthermore, 2 cases developed in 1 year, 5 cases in 3 years and 11 cases over 3 years. The most frequent cancers developed after liver transplantation were similar to those in the general Chinese population but had much higher incidence rates.

Conclusions

Liver transplant recipients were at increased risk for developing de novo cancers. The incidence rates and pattern of de novo cancers in Chinese population are different from Western people due to racial and social factors. Pre-transplant malignant condition had no relationship to de novo cancer. Exact risk factors need further studies.     

Diagnostic Accuracy of Computer Tomography Angiography and Magnetic Resonance Angiography in the Stenosis Detection of Autologuous Hemodialysis Access: A Meta-Analysis

Purpose

To compare the diagnostic performances of computer tomography angiography (CTA) and magnetic resonance angiography (MRA) for detection and assessment of stenosis in patients with autologuous hemodialysis access.

Materials and Methods

Search of PubMed, MEDLINE, EMBASE and Cochrane Library database from January 1984 to May 2013 for studies comparing CTA or MRA with DSA or surgery for autologuous hemodialysis access. Eligible studies were in English language, aimed to detect more than 50% stenosis or occlusion of autologuous vascular access in hemodialysis patients with CTA and MRA technology and provided sufficient data about diagnosis performance. Methodological quality was assessed by the Quality Assessment of Diagnostic Studies (QUADAS) instrument. Sensitivities (SEN), specificities (SPE), positive likelihood ratio (PLR), negative likelihood values (NLR), diagnostic odds ratio (DOR) and areas under the receiver operator characteristic curve (AUC) were pooled statistically. Potential threshold effect, heterogeneity and publication bias was evaluated. The clinical utility of CTA and MRA in detection of stenosis was also investigated.

Result

Sixteen eligible studies were included, with a total of 500 patients. Both CTA and MRA were accurate modality (sensitivity, 96.2% and 95.4%, respectively; specificity, 97.1 and 96.1%, respectively; DOR [diagnostic odds ratio], 393.69 and 211.47, respectively) for hemodialysis vascular access. No significant difference was detected between the diagnostic performance of CTA (AUC, 0.988) and MRA (AUC, 0.982). Meta-regression analyses and subgroup analyses revealed no statistical difference. The Deek’s funnel plots suggested a publication bias.

Conclusion

Diagnostic performance of CTA and MRA for detecting stenosis of hemodialysis vascular access had no statistical difference. Both techniques may function as an alternative or an important complement to conventional digital subtraction angiography (DSA) and may be able to help guide medical management.     

血管内介入治疗颅内动脉瘤合并缺血性脑血管疾病的临床研究

摘要 目的：探讨血管内介入治疗颅内动脉瘤（IA）合并缺血性脑血管疾病的安全性和有效性。方法：回顾性分析了2018年1月至2020年12月使用血管内介入治疗IA合并缺血性脑血管疾病的32例临床资料。结果：32例中共发现了35枚IA,37处狭窄。IA平均大小为（5.17±3.12）mm,其中位于颈内动脉有26枚（74%）,位于椎基底动脉有9枚（26%）,7例（22%）患者术前检查发现存在两枚IA。37处狭窄中,位于椎基底动脉有9处（24%）,位于颅外段有8处（22%）,其余20处狭窄（54%）均位于颈内动脉,术前平均狭窄率为75.7%。所有病例手术过程顺利,术后IA中达到完全栓塞有31枚（89%）,4枚残留颈部（11%）。37处狭窄中,术后平均狭窄率为8.8%,所有患者术后造影脑血管远端均通畅。治疗期间1例支架内再狭窄,1例脑血管痉挛,出院时所有病例改良Rankin评分量表（mRS）均小于2分。32位患者均得到术后全脑血管造影（DSA）随访,随访时间为6到18个月（平均为8.8个月）,随访期间1例出现支架内再狭窄。结论：血管内介入治疗IA合并缺血性脑血管疾病是安全有效的,值得临床借鉴应用。     

Initial Imaging Analysis of Budd-Chiari Syndrome in Henan Province of China: Most Cases Have Combined Inferior Vena Cava and Hepatic Veins Involvement

Aim

To evaluate the type of venous involvement in Chinese Budd-Chiari syndrome (BCS) patients and the relative diagnostic accuracy of the different imaging modalities.

Methods

Using digital subtraction angiography (DSA) as a reference standard, color Doppler ultrasound (CDUS), computed tomography angiography (CTA), and magnetic resonance angiography (MRA) were performed on 338 patients with BCS. We analyzed the course of the main and any accessory hepatic veins (HVs) and the inferior vena cava (IVC) to assess the etiology of obstructed segments and diagnostic accuracy of CDUS, CTA and MRA.

Results

Among the 338 cases, there were 8 cases (2.4%) of isolated IVC membranous obstruction, 45 cases (13.3%) of isolated HV occlusion, and 285 cases (84.3%) with both IVC membranous obstruction and HV occlusion. Comparing with DSA, CDUS, CTA had a diagnostic accuracy of 89.3% and 80.2% in detecting BCS, and 83.4% of cases correctly correlated by MRA.

Conclusion

In Henan Province, most patients with BCS have complex lesions combining IVC and HV involvement. The combination of CDUS and CTA or MRI is useful for diagnosis of BCS and guiding therapy.     

The incidence and survival of acute de novo leukemias in Estonia and in a well-defined region of western Sweden during 1997–2001: A survey of patients aged ≥65 years

Background: In a recently published retrospective population-based study over three 5-year periods (1982–1996) we investigated the outcome for de novo acute leukemia (AL) patients aged ≥65 years at diagnosis in Estonia (a country that had been occupied by the Soviet Union over 5 decades) and in the so-called Western Swedish Health Care Region. The age-standardized yearly incidence rates regarding the total number of de novo AL was 5.3/100 000 inhabitant for Estonia and 8.0 for Sweden, this difference being statistically significant merely as regards acute myeloid leukemia (AML). The relative survival for the total cohort of de novo AL as well as for de novo AML was significantly longer (p < 0.001) for Swedish as compared to Estonian patients. Methods: In view of the miserable outcome for the Estonian patients we decided to prospectively compare the results for incidence and outcome of de novo AL between the two countries. Results: The present report covers the first 5-year period comprising 1997–2001 and deals only with patients aged ≥65 years at diagnosis. The age-adjusted annual incidence rates for de novo AML were lower in Estonia (6.4/100 000) than in Sweden (9.2/100 000) but not significantly so. The present results also show that the outcome for the Estonian AML patients had improved considerably over the study period; thus, at no time point, i.e., at 1, 3 and 5 years did relative survival between the two countries differ significantly. Conclusion: Yet, as compared to the Swedish cohort relative survival for the Estonian patients did still not reach an acceptable level.     

Unexpected Clinical Course During Treatment of a TSH-Secreting Pituitary Adenoma

ObjectiveTo report the rare occurrence of a patient with thyrotropinoma that transitioned into a secretory thyro-somatotroph adenoma during medical treatment with somatostatin analogue.MethodsWe report the case of a patient with a thyrotroph pituitary adenoma who developed de novo evidence of growth hormone cosecretion following one year of successful medical treatment.ResultsA 78-year-old woman was diagnosed with a thyroid stimulating hormone (TSH) secreting pituitary macroadenoma (TSHoma) based on classical clinical and biochemical features. There was no clinical or biochemical evidence of growth hormone (GH) cosecretion. She declined surgical resection and was treated with primary medical therapy, octreotide long acting repeatable (LAR), to which she had an antitumor and antisecretory response; however, following 12 months of successful medical treatment she developed de novo hypersecretion of growth hormone despite involution of the tumor mass. TSH-secreting pituitary adenomas may rarely become plurihormonal during apparently successful medical treatment. This may represent an unusual form of secondary resistance to somatostatin analogue or the rarer phenomenon of tumor transformation into a secretory thyro-somatotroph adenoma.ConclusionThe unexpected clinical course of this case highlights the need for careful long-term surveillance in patients with TSH secreting pituitary adenomas. (Endocr. Pract. 2013;19:e88-e91)     

Comparison of Steroid-Free Immunosuppression and Standard Immunosuppression for Liver Transplant Patients with Hepatocellular Carcinoma

Immunosuppression therapy following liver transplantation often includes steroids. However, extended corticosteroid therapy is associated with numerous complications. This study evaluated the efficacy and safety of using basiliximab in place of a corticosteroid for immunosuppression following liver transplantation for hepatocellular carcinoma (HCC) in Chinese patients. The records of 178 patients with HCC who underwent orthotopic liver transplantation from January 2003 to December 2009 were retrospectively reviewed. All patients received immunosuppression therapy that contained either basiliximab (n = 78) or steroids (n = 100) in addition to tacrolimus and mycophenolate mofetil. Assessments included complications related to liver transplantation, occurrence of steroid side effects, recurrence of HCC, and patient and graft survival. A smaller proportion of patients receiving basiliximab compared with steroids experienced de novo diabetes (38.7% vs. 91.0%, respectively) or long-term de novo diabetes mellitus (7.7% vs. 38.0%, respectively) (both, P<0.0001). The median overall and disease free survival was similar between basiliximab (50.8 months and 19.6 months, respectively) and steroid treated patients (64.2 months and 23.8 months, respectively). The 5-year overall survival and disease free survival rates was also similar between the basiliximab (42.5% and 38.9%, respectively) and steroid (50.5% and 39.2%) groups (all, P>0.730). However, in patients who met the Milan criteria basiliximab was associated with greater 5-year overall survival rate as compared with steroid therapy (88.9% vs. 57.4%, respectively, P = 0.022). These findings provide further evidence of the negative impact of steroids as a part of immunosuppression therapy following liver transplantation for HCC.     

Outcomes in Adenomyosis Treated with Uterine Artery Embolization Are Associated with Lesion Vascularity: A Long-Term Follow-Up Study of 252 Cases

PurposeTo study the therapeutic effects of uterine artery embolization (UAE) on adenomyosis and to investigate the association between uterine blood supply and artery embolization treatment outcomes.MethodsUsing digital subtraction angiography (DSA) imaging data, we retrospectively evaluated the vascular features of 252 adenomyosis patients treated with UAE. The cases were classified based on the equality of uterine blood supply (equal and unequal subgroups) and the degree of vascularity at the adenomyosis lesion site (hypervascular, isovascular and hypovascular subgroups). Patients were followed-up for 5 years after UAE. Improvements in dysmenorrhea and menorrhagia were evaluated based on the relief of the patients’ symptoms. The improvement rates among the different subgroups were analyzed and compared.ResultsThe improvement rates of dysmenorrhea and menorrhagia were 74.0% and 70.9%, respectively, at the short-term (12-month) follow-up and 70.4% and 68.8%, respectively, at the long-term (5-year) follow-up. No statistically significant differences were observed in the improvement rates for dysmenorrhea or menorrhagia between the equal and unequal blood supply subgroups at either the short- or long-term follow-up. The improvement rates for dysmenorrhea among the hypervascular, isovascular and hypovascular subgroups were 86.5%, 71.8% and 58.8%, respectively, at the short-term follow-up (p = 0.002) and 83.6%, 67.3% and 52.8%, respectively, at the long-term follow-up (p = 0.005). The improvement rates for menorrhagia in the hypervascular, isovascular and hypovascular subgroups were 81.0%, 68.3% and 60.7%, respectively, at the short-term follow-up (p = 0.024) and 79.4%, 61.4% and 62.2%, respectively, at the long-term follow-up (p = 0.052).ConclusionUAE is effective in treating patients with adenomyosis in both the short and long term. The outcomes of patients with adenomyosis were significantly correlated with lesion vascularity.     

Objective criteria for acceptability and constancy tests of digital subtraction angiography

PurposeDemonstrate an objective procedure to quantify image quality in digital subtraction angiography (DSA) and suggest thresholds for acceptability and constancy tests.MethodsSeries of images were obtained in a DSA system simulating a small (paediatric) and a large patient using the dynamic phantom described in the IEC and DIN standards for acceptance tests of DSA equipment. Image quality was quantified using measurements of contrast-to-noise ratio (CNR). Overall scores combining the CNR of 10–100 mg/ml Iodine at a vascular diameter of 1–4 mm in a homogeneous background were defined. Phantom entrance surface air kerma (K_a,e) was measured with an ionisation chamber.ResultsThe visibility of a low-contrast vessel in DSA images has been identified with a CNR value of 0.50 ± 0.03. Despite using 14 times more K_a,e (8.85 vs 0.63 mGy/image), the protocol for large patients showed a decrease in the overall score CNR_sum of 67% (4.21 ± 0.06 vs 2.10 ± 0.05). The uncertainty in the results of the objective method was below 5%.ConclusionObjective evaluation of DSA images using CNR is feasible with dedicated phantom measurements. An objective methodology has been suggested for acceptance tests compliant with the IEC/DIN standards. The defined overall scores can serve to fix a reproducible baseline for constancy tests, as well as to study the device stability within one acquisition series and compare different imaging protocols. This work provides aspects that have not been included in the recent European guidelines on Criteria for Acceptability of Medical Radiological Equipment.     

冠状动脉CTA和DSA对冠心病患者的临床诊断价值比较

目的:比较冠状动脉CT血管成像(CT angiography,CTA)以及数字减影血管造影(digital subtraction angiography,DSA)诊断冠心病的临床价值差异。方法:选择2013年12月至2020年3月安徽医科大学第三附属医院、安徽医科大学第四附属医院收治的60例冠心病患者为研究对象,首先对其实施多排螺旋CT冠状动脉血管造影检测(CTA),而后2 w内再对其实施DSA检测,比较两种检测方式对不同血管狭窄程度、不同性质斑块检出率的差异,最后以DSA检测结果为金标准,评估CTA对冠状动脉狭窄诊断的一致性、灵敏度、特异度、阳性预测值和阴性预测值。结果:(1)CTA检测狭窄血管共计387支,轻度狭窄152支(39.28%),中度狭窄118支(30.49%),重度狭窄105支(27.13%),闭塞12支(3.10%);DSA检测狭窄血管392支,轻度狭窄150支(38.27%),中度狭窄124支(31.63%),重度狭窄112支(28.57%),闭塞6支(1.53%),两组各血管狭窄类型比较差异无统计学意义(P0.05);(2)CTA检测斑块69个,其中钙化斑43个(62.32%),非钙化斑26个(37.68%),DSA检测斑块61个,其中钙化斑33个(54.10%),非钙化斑28个(45.50%),两种检测方式差异无统计学意义(P0.05);(3)以DSA检测为金标准,CTA对重度及以上血管狭窄诊断一致性为99.23%,特异度为98.31%,灵敏度为99.64%,阳性预测值为99.15%,阴性预测值为99.27%。结论:与DSA相比,CTA对冠心病患者血管狭窄的诊断价值相当,且属于无创检测,在冠心病早期筛查中临床应用价值更高。     

Voxel-Based Sensitivity of Flat-Panel CT for the Detection of Intracranial Hemorrhage: Comparison to Multi-Detector CT

ObjectivesFlat-panel CT (FPCT) allows cross-sectional parenchymal, vascular and perfusion imaging within the angiography suite, which could greatly facilitate acute stroke management. We hypothesized that FPCT offers equal diagnostic accuracy compared to multi-detector CT (MDCT) as a primary tool to exclude intracranial hemorrhage.Methods22 patients with intracranial hematomas who had both MDCT and FPCT performed within 24 hours were retrospectively identified. Patients with visible change in hematoma size or configuration were excluded. Two raters independently segmented hemorrhagic lesions. Data sets and corresponding binary lesion maps were co-registered to compare hematoma volume. Diagnostic accuracy of FPCT to detect hemorrhage was calculated from voxel-wise analysis of lesion overlap compared to reference MDCT.ResultsMean hematoma size was similar between MDCT (16.2±8.9 ml) and FPCT (16.1±8.6 ml), with near perfect correlation of hematoma sizes between modalities (ρ = 0.95, p<0.001). Sensitivity and specificity of FPCT to detect hemorrhagic voxels was 61.6% and 99.8% for intraventricular hematomas and 67.7% and 99.5% for all other intracranial hematomas.ConclusionsIn this small sample containing predominantly cases with subarachnoid hemorrhage, FPCT based assessment of hemorrhagic volume in brain yields acceptable accuracy compared to reference MDCT, albeit with a limited sensitivity on a voxel level. Further assessment and improvement of FPCT is necessary before it can be applied as a primary imaging modality to exclude intracranial hemorrhage in acute stroke patients.     

老年脑梗死患者急性期全脑血管造影及脑动脉狭窄的危险因素分析

目的:探究老年脑梗死患者急性期全脑血管造影(DSA)及脑动脉狭窄的危险因素。方法:选择2010年1月~2016年9月期间我院收治的562例老年脑卒中患者为研究对象。经DSA造影观察脑血管动脉造影脉狭窄情况,并收集患者一般资料,采用单因素分析及多因素logistics回归分析脑动脉狭窄的危险因素。结果:562例脑卒中患者经DSA检查共发现469例患者出现脑动脉狭窄,中度狭窄301例,血管重度狭窄168例;颅内段发生率显著高于颅外段(P0.05);高龄(OR=1.434,P0.05)、高血压(OR=2.084,P0.05)、糖尿病(OR=2.235,P0.05)及吸烟(OR=2.734,P0.05)是老年脑卒中患者脑血管狭窄的危险因素。结论:DSA显示老年人脑卒中患者多存在脑血管动脉狭窄的发生,年龄、高血压、糖尿病及吸烟是老年脑卒中患者脑血管狭窄的危险因素。     

Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the causes of sudden cardiac death in young people and results from RYR2 mutations in ~60% of CPVT patients. The inheritance of the RYR2 mutations follows an autosomal dominant trait, however, de novo mutations are often identified during familial analysis. In 36 symptomatic CPVT probands with RYR2 mutations, we genotyped their parents and confirmed the origin of the respective mutation. In 26 sets of proband and both parents (trio), we identified 17 de novo mutations (65.4%), seven from their mothers and only two mutations were inherited from their fathers. Among nine sets of proband and mother, five mutations were inherited from mothers. Four other mutations were of unknown origin. The inheritance of RYR2 mutations was significantly more frequent from mothers (n = 12, 34.3%) than fathers (n = 2, 5.7%) (P = 0.013). The mean ages of onset were not significantly different in probands between de novo mutations and those from mothers. Thus, half of the RYR2 mutations in our cohort were de novo, and most of the remaining mutations were inherited from mothers. These data would be useful for family analysis and risk stratification of the disease.     

Left Atrial Appendage Volume Increased in More Than Half of Patients with Cryptogenic Stroke

Background

Ischemic strokes without a well-defined etiology are labeled as cryptogenic, and account for 30–40% of strokes in stroke registries. The left atrial appendage (LAA) is the most typical origin for intracardiac thrombus formation when associated with atrial fibrillation. Here, we examined whether increased LAA volume detected with cardiac computed tomography (cCT) constitutes a risk factor in cryptogenic stroke patients.

Methods

This study included 82 stroke/TIA patients (57 males; mean age, 58 years) with a diagnosis of cryptogenic stroke after extensive radiological and cardiological investigations. Cases were classified using the TOAST criteria modified by European Association of Echocardiography recommendations for defining cardiac sources of embolism. Forty age- and gender-matched control subjects without cardiovascular diseases were selected for pair-wise comparisons (21 males; mean age, 54 years). LAA volume adjusted for body surface area was measured three dimensionally by tracing the LAA borders on electrocardiogram-gated CT slices.

Results

In control subjects, mean LAA volume was 3.4±1.1 mL/m². Mean+2SD, which was considered the upper limit for normal LAA volume was 5.6 mL/m². In paired Student t-test between the patient group and matched controls, LAA volume was 67% larger in cryptogenic stroke/TIA patients (5.7±2.0 mL/m² vs. 3.4±1.1 mL/m²; P<0.001). Forty-five (55%) patients with cryptogenic stroke/TIA had enlarged LAA.

Conclusion

LAA is significantly enlarged in more than half of patients with cryptogenic stroke/TIA. LAA thrombosis may contribute to the pathogenesis of stroke in patients considered to have cryptogenic stroke after conventional evaluation.     

Value of DSA in the Diagnostic Workup of Pulsatile Tinnitus

ObjectivesPulsatile tinnitus (PT) is a rare complaint, but can be a symptom of life-threatening disease. It is often caused by vascular pathologies, e.g. dural arteriovenous fistula (dAVF), arteriovenous malformation (AVM) or vascularized tumors. The current diagnostic pathway includes clinical examination, cranial MRI and additional DSA. The aim of this study was to evaluate the diagnostic impact of DSA in the diagnostic workup of patients with PT in comparison to MRI alone.MethodsRetrospectively, 54 consecutive patients with pulsatile tinnitus were evaluated. All patients had a diagnostic workup including cranial MRI and DSA. MRI examinations were blinded to the results of DSA and retrospectively analyzed in consensus by two experienced neuroradiologists. The MR-examinations were evaluated for each performed sequence separately: time-of-flight-angiography, ce-MRA, T2, ce-T1-sequence and ce-T1-sequence with fat saturation.Results37 of the 54 patients revealed a pathology explaining PT on MRI, which was detected by the readers in 100% and proofed by means of DSA. 24 dAVF, four paraganglioma, two AVM and seven more pathologies were described. All patients without pathology on MRI did also not show any pathology in DSA.ConclusionsMR imaging is sufficient to exclude pathology in patients with pulsatile tinnitus.     

Predicting Survival of De Novo Metastatic Breast Cancer in Asian Women: Systematic Review and Validation Study

Background

In Asia, up to 25% of breast cancer patients present with distant metastases at diagnosis. Given the heterogeneous survival probabilities of de novo metastatic breast cancer, individual outcome prediction is challenging. The aim of the study is to identify existing prognostic models for patients with de novo metastatic breast cancer and validate them in Asia.

Materials and Methods

We performed a systematic review to identify prediction models for metastatic breast cancer. Models were validated in 642 women with de novo metastatic breast cancer registered between 2000 and 2010 in the Singapore Malaysia Hospital Based Breast Cancer Registry. Survival curves for low, intermediate and high-risk groups according to each prognostic score were compared by log-rank test and discrimination of the models was assessed by concordance statistic (C-statistic).

Results

We identified 16 prediction models, seven of which were for patients with brain metastases only. Performance status, estrogen receptor status, metastatic site(s) and disease-free interval were the most common predictors. We were able to validate nine prediction models. The capacity of the models to discriminate between poor and good survivors varied from poor to fair with C-statistics ranging from 0.50 (95% CI, 0.48–0.53) to 0.63 (95% CI, 0.60–0.66).

Conclusion

The discriminatory performance of existing prediction models for de novo metastatic breast cancer in Asia is modest. Development of an Asian-specific prediction model is needed to improve prognostication and guide decision making.     

Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy

Charcot-Marie-Tooth disease type 2A (CMT2A) is one of the subdivisions of CMT2, an axonal defective form of peripheral neuropathy. Different mutations in the mitochondrial GTPase mitofusin 2 (MFN2) gene produce various degrees of severity of CMT2A phenotype or CMT2A related hereditary motor and sensory neuropathy VI (HMSN VI). The occurrence of de novo mutations in MFN2 is by far the most frequent as compared to other CMT genes. About 26% of the pathogenic MFN2 mutations reported in the Inherited Peripheral Neuropathies Mutations Database are de novo. This study identified two de novo mutations of MFN2, c.1048T>C (S350P) and c.310C>T (R104W), from two Korean CMT2A patients with early onset severe clinical symptoms. The comparative genotype-phenotype correlations of these mutations according to a previously reported case were also viewed. The R104W mutation has been reported recurrently, outspread over different ethnic backgrounds as de novo. The re-occurrence of the same pathogenic de novo variants within and amongst different ethnic groups clearly suggests a susceptible hot spot for mutation in the MFN2 gene. If the deleterious mutations discourage fitness and reproduction, this negative selection factor should ultimately reduce the prevalence of the disease. It appears that spontaneous de novo mutations in turn seem to be maintaining the disease phenotype??s prevalence.     

Effects of locoregional radiotherapy in de novo metastatic nasopharyngeal carcinoma: A real-world study

BackgroundTo evaluate the value of locoregional radiotherapy (LRRT) in de novo metastatic nasopharyngeal carcinoma (dmNPC) and identify predictive factors for additional LRRT after palliative chemotherapy (PCT).MethodsOverall survival (OS) was the primary endpoint. Patients who underwent PCT and LRRT were categorized as the PCT+LRRT group; patients who only received palliative chemotherapy were categorized as the PCT group. Oligometastatic diseases (OMD) was defined as ≤5 metastatic lesions and ≤2 metastatic organs.ResultsA total of 168 patients were included for this study. The median OS of patients in the PCT+LRRT group was significantly higher than those in the PCT group (57 months vs. 22 months, P<0.001). Multivariate analyses (MVA) showed that LRRT (HR=0.533, 95% CI: 0.319–0.889, P = 0.016) and OMD (HR=0.548, 95% CI: 0.331–0.907, P = 0.019) were independent prognostic factors for dmNPC. Furthermore, Kaplan–Meier analyses showed that the 3-year OS of patients who received LRRT was significantly better than those who did not receive LRRT in the OMD subgroup (66.3% vs. 25.2%, P<0.001). While, the 3-year OS of patients who received LRRT and without LRRT was no different in the polymetastatic disease (PMD) subgroup (38.9% vs.11.5%, P = 0.115). MVA showed that LRRT was a favorable prognosticator in the OMD subgroup (HR=0.308, 95% CI: 0.159–0.598; P<0.001), and not a favorable prognosticator in the PMD subgroup (HR=0.510, 95% CI: 0.256–1.014, P = 0.055).ConclusionsLRRT has the potential to prolong OS in NPC patients with de novo OMD. These results suggest that OMD is a potential indicator for filtering beneficiaries from LRRT.     

Influence of transoesophageal echocardiography on therapy and prognosis in young patients with TIA or ischaemic stroke

Objective. To determine the influence of transoesophageal echocardiography (TEE) on therapy and prognosis in patients with cryptogenic transient ischaemic attack (TIA) or ischaemic stroke under the age of 50 years. Methods and results. We evaluated all patients aged 50 and under who were referred to our university hospital for cryptogenic TIA or ischaemic stroke during the period 1 January 1996 to 31 December 2004. All patients underwent both transthoracic echocardiography (TTE) and TEE. Patients with known pre-existent heart disease, such as atrial fibrillation, were excluded. Eighty-three patients with TIA (22) and ischaemic stroke (61) were enrolled. Mean age was 39±8 years (range 18 to 50). In 30% of the patients TEE detected one or more potential cardioembolic source, compared with 10% for TTE (p=0.003). Standard treatment (aspirin 38 mg daily) was changed in 7% of the patients due to the TEE findings. Complete followup was obtained in 93% with an average of 5±3 years. Twelve recurrences occurred; two out of six patients (33%) with therapy change and ten out of 71 (14%) of the patients without therapy change had a recurrent TIA or ischaemic Stroke. Conclusion. In patients with cryptogenic TIA or ischaemic stroke, TEE is superior to TTE in the detection of a potential cardiac source of embolism. However, findings obtained by TEE only influence the already initiated treatment in a small percentage of patients. The recurrence rate both in the group with and without therapy change is high. (Neth Heart J 2009;17:373–7.)     

Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists

BackgroundDespite a high prevalence of intracranial aneurysm (ICA) in autosomal dominant polycystic kidney disease (ADPKD), rupture events are rare. The current recommendations for ICA screening are based on expert opinions and studies with low levels of evidence.ObjectivesThe aim of our study was to describe the attitudes of practicing nephrologists in Europe towards screening for ICA using magnetic resonance angiography (MRA).MethodsWe conducted a web-based survey among 1315 European French-speaking nephrologists and nephrology residents. An anonymous, electronic questionnaire including 24 independent questions related to ICA screening modalities, indications and participant profiles was sent by email between September and December 2014. Four hundred and twenty nephrologists (mostly from France) participated, including 31 nephrology residents; the response rate was 32%.ResultsSystematic screening for ICA was advocated by 28% of the nephrologists. A family history of ICA rupture, sudden death, stroke and migraine were consensual indications for screening (> 90% of the panel). In other clinical situations largely not covered by the recommendations (pregnancy, nephrectomy, kidney transplantation, cardiac or hepatic surgery, uncontrolled hypertension, lack of familial ADPKD history, at-risk activity, tobacco use), the attitudes towards screening were highly divergent. ICA screening was influenced by nephrologists experience with ADPKD and by their practice setting. The majority of participants (57%) would not repeat a normal ICA screening. Only a few participants (22%) knew that non-contrast MRA was the reference diagnostic tool for ICA screening, whereas most participants thought that contrast enhancement was necessary to screen for ICA. The results from the nephrology residents were analyzed separately and yielded similar results.ConclusionThis practice survey revealed that most nephrologists follow the current recommendations for the initial screening of ICAs. However, more than a quarter of the panel was in favor of systematic ICA screening, most nephrologists did not know that contrast medium was not necessary to screen for ICA using MRA, and many areas of uncertainty remain.