Glomus tympanicum chemodectomas: radiographic and clinical characteristics

Glomus tympanicum chemodectomas are benign neoplasms that develop from normal glomus bodies located along the Jacobson (tympanic) nerve in the middle ear. The medical charts and radiographic studies of 55 patients with these tumors were reviewed. Women outnumbered men in a ratio of 3.5:1, and the patients' average age when they initially reported symptoms was 52 years. Tinnitus, ear pulsations, and diminished hearing were the most frequent symptoms. No patient had a second chemodectoma, and none of seven patients who were tested had elevated neuroendocrine compounds. Review of the radiographic examinations showed that direct coronal, thin-section computed tomography (CT) was the most sensitive means of demonstrating glomus tympanicum chemodectomas. Magnification angiography was also a sensitive diagnostic study, typically depicting a trapezoidal, hypervascular, middle-ear mass that appeared initially in the middle-to-late arterial phase and quickly disappeared in the venous phase. Differentiation from an aberrant internal carotid artery is critical to prevent arterial biopsy.     

Treatment of recurrent miscarriage and antiphospholipid syndrome with low-dose enoxaparin and aspirin

The aim of this retrospective, observational study was to determine the impact of low-dose enoxaparin (20 mg) in conjunction with low-dose aspirin on the pregnancy outcome of women with antiphospholipid syndrome and recurrent miscarriage. The study was conducted in a tertiary referral teaching hospital. A total of 35 women with antiphospholipid syndrome were treated with low-dose enoxaparin and aspirin as soon as pregnancy was confirmed. The outcome of pregnancy was analysed. The miscarriage rate was 7/35 (20%) whereas the live birth rate was 28/35 (80%). In conclusion, low-dose (20 mg) enoxaparin in conjunction with low-dose aspirin treatment produced encouraging results. The findings in this study suggest that there is a case for randomized controlled trials to compare low-dose (20 mg) enoxaparin with higher doses.     

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

Summary  Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering α-glucosidases, which are present in granulocytes but not in lymphocytes. Here we show that the application of acarbose in the enzymatic assay employing the artificial substrate 4-methylumbelliferyl-α-d-glucoside (MU-αGlc) is insufficient to clearly distinguish patients from healthy individuals in all cases. Also, the ratios of the activities without/with acarbose only marginally discriminated Pompe patients and healthy individuals. By contrast, when the natural substrate glycogen is used, the activity in leukocytes from patients (n = 82) with Pompe disease is at most 17% of the lowest control value. The use of artificial substrate in an assay with isolated lymphocytes instead of total leukocytes is a poor alternative as blood samples older than one day invariably yield lymphocyte preparations that are contaminated with granulocytes. To diagnose Pompe disease in leukocytes we recommend the use of glycogen as substrate in the presence of acarbose. This assay unequivocally excludes Pompe disease. To also exclude pseudo-deficiency of acid α-glucosidase caused by the sequence change c.271G>A (p.D91N or GAA2; homozygosity in approximately 1:1000 caucasians), a second assay employing MU-αGlc substrate plus acarbose or DNA analysis is required. Competing interests: None declared References to electronic databases: Glycogen storage disease II (Pompe disease): #232300. Acid α-glucosidase: EC 3.2.1.3/20.     

High-resolution 1H NMR spectroscopy in rat liver using magic angle turning at a 1 Hz spinning rate.

It is demonstrated that a high-resolution (1)H NMR spectrum of excised rat liver can be obtained using the technique of magic angle turning (MAT) at a sample spinning rate of 1 Hz. A variant of the phase-corrected MAT (PHORMAT) pulse sequence that includes a water suppression segment was developed for the investigation. The spectral resolution achieved with PHORMAT approaches that obtained from a standard magic angle spinning (MAS) experiment at a spinning rate of several kHz. With such ultra-slow spinning, tissue and cell damage associated with the standard MAS experiment is minimized or eliminated. The technique is potentially useful for obtaining high-resolution (1)H spectra in live animals.     

Analysing the attributes of Comprehensive Cancer Centres and Cancer Centres across Europe to identify key hallmarks

There is a persistent variation in cancer outcomes among and within European countries suggesting (among other causes) inequalities in access to or delivery of high‐quality cancer care. European policy (EU Cancer Mission and Europe’s Beating Cancer Plan) is currently moving towards a mission‐oriented approach addressing these inequalities. In this study, we used the quantitative and qualitative data of the Organisation of European Cancer Institutes’ Accreditation and Designation Programme, relating to 40 large European cancer centres, to describe their current compliance with quality standards, to identify the hallmarks common to all centres and to show the distinctive features of Comprehensive Cancer Centres. All Comprehensive Cancer Centres and Cancer Centres accredited by the Organisation of European Cancer Institutes show good compliance with quality standards related to care, multidisciplinarity and patient centredness. However, Comprehensive Cancer Centres on average showed significantly better scores on indicators related to the volume, quality and integration of translational research, such as high‐impact publications, clinical trial activity (especially in phase I and phase IIa trials) and filing more patents as early indicators of innovation. However, irrespective of their size, centres show significant variability regarding effective governance when functioning as entities within larger hospitals.     

Structuring a safer donor-replacement program

BACKGROUND: Replacement donors are more likely than volunteer donors to have positive or abnormal tests for transfusion-transmissible disease. In an effort to increase the donor pool, workers sought to identify a safer replacement-donor subgroup that may be acceptable for routine donations. STUDY DESIGN AND METHODS: In a retrospective review and cohort study, the replacement-donor effect was separated from the new- donor effect. The relative effect the replacement donor has on the risk of transfusion-transmissible diseases, donor retention, and frequency of returning donations was then quantified by comparison against the effect of repeat volunteer donors. RESULTS: The replacement donor had 3.1 times the risk and 0.72 times the donor retention rate and made 0.81 times as many returning donations as the repeat volunteer donor. The figures for the new-donor effect were similar. The two risks were additive, making a new replacement donor particularly hazardous. If replacement donations only from repeat replacement donors were considered, the donor risk and the number of donations per returning donor were made comparable to those for the general (combined) volunteer donor. CONCLUSION: The negative effect of the replacement donor is similar in magnitude to that of the new volunteer donor. A replacement-donation program targeting repeat replacement donors has an acceptable risk profile and may be a valuable adjunct to the collection of blood from general volunteer donors.     

Uncovering the genomic heterogeneity of multifocal breast cancer

Multifocal breast cancer (MFBC), defined as multiple synchronous unilateral lesions of invasive breast cancer, is relatively frequent and has been associated with more aggressive features than unifocal cancer. Here, we aimed to investigate the genomic heterogeneity between MFBC lesions sharing similar histopathological parameters. Characterization of different lesions from 36 patients with ductal MFBC involved the identification of non‐silent coding mutations in 360 protein‐coding genes (171 tumour and 36 matched normal samples). We selected only patients with lesions presenting the same grade, ER, and HER2 status. Mutations were classified as ‘oncogenic’ in the case of recurrent substitutions reported in COSMIC or truncating mutations affecting tumour suppressor genes. All mutations identified in a given patient were further interrogated in all samples from that patient through deep resequencing using an orthogonal platform. Whole‐genome rearrangement screen was further conducted in 8/36 patients. Twenty‐four patients (67%) had substitutions/indels shared by all their lesions, of which 11 carried the same mutations in all lesions, and 13 had lesions with both common and private mutations. Three‐quarters of those 24 patients shared oncogenic variants. The remaining 12 patients (33%) did not share any substitution/indels, with inter‐lesion heterogeneity observed for oncogenic mutation(s) in genes such as PIK3CA, TP53, GATA3, and PTEN. Genomically heterogeneous lesions tended to be further apart in the mammary gland than homogeneous lesions. Genome‐wide analyses of a limited number of patients identified a common somatic background in all studied MFBCs, including those with no mutation in common between the lesions. To conclude, as the number of molecular targeted therapies increases and trials driven by genomic screening are ongoing, our findings highlight the presence of genomic inter‐lesion heterogeneity in one‐third, despite similar pathological features. This implies that deeper molecular characterization of all MFBC lesions is warranted for the adequate management of those cancers. © 2015 The Authors. Pathological Society of Great Britain and Ireland.     

Which fast track elements predict early recovery after colon cancer surgery?

Aim It is questioned whether all separate fast track elements are essential for enhanced postoperative recovery. We aimed to determine which baseline characteristics and which fast track elements are independent predictors of faster postoperative recovery in patients undergoing resection for colon cancer. Method Data from the LAFA trial database were used. In this trial, fast track care was compared with standard perioperative care in 400 patients undergoing laparoscopic or open surgery for colonic cancer. During admission 19 fast track elements per patient were prospectively evaluated and scored whether or not they were successfully applied. To identify predictive factors six baseline characteristics and those fast track items that were successfully achieved were entered in a univariate and multivariate linear regression analysis with total postoperative hospital stay (THS) as the primary outcome. Results In 400 patients, two baseline characteristics and two fast track elements were found to be significant independent predictors of THS: female sex [B = 0.85; 95% CI 0.75–0.96; reduction of 15% (CI 14–25%) in THS], laparoscopic resection [B = 0.85; 95% CI 0.75–0.96; reduction of 15% (CI 14–25%) in THS], ‘normal diet at postoperative days 1, 2 and 3’ [B = 0.70; 95% CI 0.61–0.81; reduction of 30% (CI 19–39%) in THS] and ‘enforced mobilization at postoperative days 1, 2 and 3’ [B = 0.68; 95% CI 0.59–0.80; reduction of 32% (CI 20–41%) in THS]. Conclusion Evaluating only those fast track elements that were successfully achieved, enforced advancement of oral intake, early mobilization, laparoscopic surgery and female sex were independent determinants of early recovery.