Ulcerated plaques of the aorta as a cause of ischaemic stroke

Stroke is a second cause of mortality worldwide and a leading cause of acquired disability in adults. Approximately 20% of all ischaemic strokes are of cardioembolic origin. We present a case of a 60-year-old man with a history of stroke without changes in carotid and vertebral arteries. Echocardiography exam revealed patent foramen ovale (PFO) and abnormal echos in the aorta that were verified as advanced complex atheromas by computed tomography. Due to small size PFO was deemed insignificant and the source of embolism were most probably aortic atheromas. Patient was put on acenocumarol, aspirin and statin.     

Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas

Primary hyperaldosteronism, one cause of which is aldosterone-producing adenomas (APAs), may account for ≤5% to 10% of cases of essential hypertension. Germline mutations have been identified in 2 rare familial forms of primary hyperaldosteronism, but it has been reported recently that somatic mutations of the KCNJ5 gene, which encodes a potassium channel, are present in some sporadic nonsyndromic APAs. To address this further we screened 2 large collections of sporadic APAs from the United Kingdom and Australia (totalling 73) and found somatic mutations in the selectivity filter of KCNJ5 in 41% (95% CI: 31% to 53%) of the APAs (30 of 73). These included the previously noted nonsynonymous mutations, G151R and L158R, and an unreported 3-base deletion, delI157, in the region of the selectivity filter. APAs containing a somatic KCNJ5 mutation were significantly larger than those without (1.61 cm [95% CI: 1.39-1.83 cm] versus 1.04 cm [95% CI: 0.91-1.17 cm]; P<0.0001) but with substantial overlap in size between genotypes. The APAs carrying a mutation, but not those without, also consistently lacked a postural aldosterone response, suggesting a physiologically distinct subtype. Hence, somatic KCNJ5 mutations are not restricted to large APAs (>2 cm), and their frequency in our unselected series suggests they are common and could be important in the molecular pathogenesis of many sporadic cases of APA.     

Withdrawal of Technological Life Support Following Subarachnoid Hemorrhage

Background

Prognostication of mortality or severe disability often prompts withdrawal of technological life support in patients following aneurysmal subarachnoid hemorrhage (aSAH). We assessed admission factors impacting decisions to withdraw treatment after aSAH.

Methods

Prospectively collected data of aSAH patients admitted to our institution between 1991 and 2009 were reviewed. Patients given comfort care measures were identified, including early withdrawal of treatment (<72 h after admission). Independent predictors of treatment withdrawal were assessed with multivariable analysis.

Results

The study included 1,134 patients, of whom 72 % were female, 58 % white, and 38 % black or African-American. Mean age was 52.5 ± 14.0 years. In-hospital mortality was 18.3 %. Of the 207 patients who died, treatment was withdrawn in 72 (35 %) and comfort measures instituted early in 31 (15 %). Among patients who died, WOLST was associated with older age (63.6 ± 14.2 years, WOLST vs. 55.6 ± 13.7 years, no WOLST, p < 0.001); GCS score <8 (62 % of WOLST vs. 44 % with no WOLST, p = 0.010); HH >3 (72 % of WOLST vs. 53 % with no WOLST, p = 0.008); and hydrocephalus (81 % of WOLST vs. 63 % with no WOLST, p = 0.009). Independent predictors of WOLST were poorer Hunt and Hess grade (AOR 1.520, 95 % CI 1.160–1.992, p = 0.002) and older age (AOR 1.045, 95 % CI 1.022–1.068, p < 0.001) with the latter also impacting early WOLST decisions.

Conclusions

Older age and poor clinical grade on presentation predicted WOLST, and age predicted decisions to withdraw treatment earlier following aSAH. While based on prognosis, and in some cases patient wishes, this may also constitute a self-fulfilling prophecy in others.     

EGFR mutation testing on cytological and histological samples in non-small cell lung cancer: a Polish,single institution study and systematic review of European incidence

The targeted treatment of advanced non-small-cell lung cancer (NSCLC) depends on confirmation of activating somatic EGFR mutation. The aim of the study was to evaluate the incidence of EGFR mutations in NSCLC detected in cytological and histological material and present literature review on European EGFR mutation incidence. 273 patients with confirmed NSCLC were entered into the study: 189 histological, paraffin-embedded materials, 12 fresh and 72 fixed cytological specimens. DNA was extracted from both types of material and the EGFR mutation in exons 18-21 was analyzed by direct sequencing. In addition the EGFR gene copy number in cases with sufficient histological material (110 patients) was evaluated by fluorescent in situ hybridization (FISH) technique. The percentage of EGFR somatic mutations was 10.62%. FISH positive results (amplification or high polysomy of EGFR gene) were identified in 33 patients (30.0%). The strongest clinicopathological correlation with the EGFR mutation was found for histological type (adenocarcinoma; p < 0.01), gender (females; p < 0.01) and FISH positive result (p < 0.05). This is the first, single institution study that estimates the EGFR mutation incidence in the Polish population. Cytological material recovered from fixed preparations and stained with hematoxylin and eosin showed DNA quality comparable to fresh tumor cells and histological samples.     

Elektromagnetische Navigation transpedikulärer Punktionen

Aim

Before clinical implementation of an approved electromagnetic tracking system (CAPPA IRAD EMT) an experimental trial was performed to investigate the accuracy of the system and its safety in application for transpedicular vertebral punctures in comparison to the classical fluoroscopic method.

Material and methods

A total of 110 transpedicular punctures were performed bilaterally using 11 vertebrae of 5 realistic artificial phantoms and 1 pedicle was punctured with the conventional technique using c-arm fluoroscopy and the other with the electromagnetic tracking system. As a target a radiopaque non-ferromagnetic marker was implanted bilaterally in the anterior wall of the vertebrae. For evaluation of the precision the distance from the end of the puncture to the target and the gradual deviation of the actual channel from the ideal trajectory were assessed in three-dimensional computer tomography. Calculations and statistical analysis were performed according to the Wilcoxon test by means of SPSS 16.0.1 for Windows.

Results

The mean distance from the target was 6.6 mm (±3.9 mm standard deviation SD) with electromagnetic navigation compared to 3.2 mm (±2.8 mm SD) with fluoroscopic assistance and the mean aberration from the ideal trajectory was 18.4° (±4.6° SD) compared to 6.5° (±3.5° SD), respectively. The difference of accuracy was highly significant regarding both parameters (p?<?0.001).

Conclusions

The minimum requirement for accuracy of transpedicular punctures could not be achieved with electromagnetic navigation. Unless proven otherwise, the lack of accuracy is attributed to unstable referencing. Despite evidence of successful employment for soft tissue punctures the system cannot currently be recommended for osseous applications of the spine.     

Prevalence of upper aerodigestive symptoms in patients who underwent thyroidectomy with and without the use of intraoperative laryngeal nerve monitoring

Background: Upper aerodigestive symptoms (UADS) have been reported by patients who have had thyroidectomies. This study evaluated the long-term prevalence of UADS after thyroidectomy in patients who did and who did not have intraoperative neuromonitoring (IONM). Methods: This was a cross-sectional study of patients with normal vocal fold mobility who had a thyroidectomy. It included patients who did and did not have this surgery with IONM. All patients answered a questionnaire regarding UADS occurring one or more years after thyroidectomy. The questionnaire dealt with UADS relating to voice and swallowing symptoms and sought to quantify their severity. The 208 patients who underwent thyroidectomy without IONM were designated the control group (CG). The 100 patients who underwent thyroidectomy with IONM were designated the neuromonitored group (NMG). Results: The proportion of patients in the CG who reported UADS was 45%; 25.9% of these patients reported voice symptoms, and 33.6% reported swallowing symptoms. The proportion of patients in the NMG who reported UADS was 39%; 27% of these patients reported voice symptoms, and 22% reported swallowing symptoms. Thus, patients in the CG had more swallowing symptoms and a greater severity of UADS-related symptoms than patients in the NMG. Conclusions: In this study, IONM had a favorable effect in terms of decreasing the prevalence and severity of UADS occurring one year or more after thyroidectomy.