The detection of neutrino interactions in the emulsion/lead target of the OPERA experiment

The OPERA neutrino detector in the underground Gran Sasso Laboratory (LNGS) was designed to perform the first detection of neutrino oscillations in appearance mode through the study of $\nu_\mu\to\nu_\tau$ oscillations. The apparatus consists of an emulsion/lead target complemented by electronic detectors and it is placed in the high energy long-baseline CERN to LNGS beam (CNGS) 730 km away from the neutrino source. Runs with CNGS neutrinos were successfully carried out in 2007 and 2008 with the detector fully operational with its related facilities for the emulsion handling and analysis. After a brief description of the beam and of the experimental setup we report on the collection, reconstruction and analysis procedures of first samples of neutrino interaction events

First events from the CNGS neutrino beam detected in the OPERA experiment

The OPERA neutrino detector at the underground Gran Sasso Laboratory (LNGS) was designed to perform the first detection of neutrino oscillations in appearance mode, through the study of nu_mu to nu_tau oscillations. The apparatus consists of a lead/emulsion-film target complemented by electronic detectors. It is placed in the high-energy, long-baseline CERN to LNGS beam (CNGS) 730 km away from the neutrino source. In August 2006 a first run with CNGS neutrinos was successfully conducted. A first sample of neutrino events was collected, statistically consistent with the integrated beam intensity. After a brief description of the beam and of the various sub-detectors, we report on the achievement of this milestone, presenting the first data and some analysis results.Comment: Submitted to the New Journal of Physic

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis

<p>Abstract</p> <p>Background</p> <p>Germline inactivating mutations in <it>BRCA1 </it>and <it>BRCA2 </it>underlie a major proportion of the inherited predisposition to breast and ovarian cancer. These mutations are usually detected by DNA sequencing. Cost-effective and rapid methods to screen for these mutations would enable the extension of mutation testing to a broader population. High resolution melting (HRM) analysis is a rapid screening methodology with very low false negative rates. We therefore evaluated the use of HRM as a mutation scanning tool using, as a proof of principle, the three recurrent BRCA1 and BRCA2 founder mutations in the Ashkenazi Jewish population in addition to other mutations that occur in the same regions.</p> <p>Methods</p> <p>We designed PCR amplicons for HRM scanning of <it>BRCA1 </it>exons 2 and 20 (carrying the founder mutations185delAG and 5382insC respectively) and the part of the <it>BRCA2 </it>exon 11 carrying the 6174delT founder mutation. The analysis was performed on an HRM-enabled real time PCR machine.</p> <p>Results</p> <p>We tested DNA from the peripheral blood of 29 individuals heterozygous for known mutations. All the Ashkenazi founder mutations were readily identified. Other mutations in each region that were also readily detected included the recently identified Greek founder mutation 5331G>A in exon 20 of <it>BRCA1</it>. Each mutation had a reproducible melting profile.</p> <p>Conclusion</p> <p>HRM is a simple and rapid scanning method for known and unknown <it>BRCA1 </it>and <it>BRCA2 </it>germline mutations that can dramatically reduce the amount of sequencing required and reduce the turnaround time for mutation screening and testing. In some cases, such as tracking mutations through pedigrees, sequencing may only be necessary to confirm positive results. This methodology will allow for the economical screening of founder mutations not only in people of Ashkenazi Jewish ancestry but also in other populations with founder mutations such as Central and Eastern Europeans (<it>BRCA1 </it>5382insC) and Greek Europeans (<it>BRCA1 </it>5331G>A).</p

Large-angle production of charged pions by 3 GeV/c - 12.9 GeV/c protons on beryllium, aluminium and lead targets

Measurements of the double-differential $\pi^{\pm}$ production cross-section in the range of momentum 100 \MeVc \leq p < 800 \MeVc and angle 0.35 \rad \leq \theta < 2.15 \rad in proton--beryllium, proton--aluminium and proton--lead collisions are presented. The data were taken with the HARP detector in the T9 beam line of the CERN PS. The pions were produced by proton beams in a momentum range from 3 \GeVc to 12.9 \GeVc hitting a target with a thickness of 5% of a nuclear interaction length. The tracking and identification of the produced particles was performed using a small-radius cylindrical time projection chamber (TPC) placed inside a solenoidal magnet. Incident particles were identified by an elaborate system of beam detectors. Results are obtained for the double-differential cross-sections at six incident proton beam momenta (3 \GeVc, 5 \GeVc, 8 \GeVc, 8.9 \GeVc (Be only), 12 \GeVc and 12.9 \GeVc (Al only)) and compared to previously available data

Успешное применение комбинированной экстракорпоральной поддержки жизнеобеспечения при лечении новой коронавирусной инфекции, осложненной развитием полиорганной дисфункции у беременной

Pregnant and postpartum women are at a higher risk of infection with SARS-CoV-2 as well as a higher risk of adverse outcomes for the mother and fetus. Standard approaches to the management of COVID-19-associated multiple organ dysfunction may not always be implemented in this category of patients. In the clinical case of a patient, who developed multiple organ dysfunction syndrome (severe ARDS, coagulopathy) associated with COVID-19 in the postpartum period, we demonstrate the successful use of combined extracorporeal life support that included veno-venous extracorporeal membrane oxygenation, therapeutic plasma exchange and renal replacement therapy with the universal oXiris set.Беременные и родильницы подвержены более высокому риску заражения новой коронавирусной инфекцией и неблагоприятным исходам как для матери, так и для плода. Стандартные подходы к ведению полиорганной дисфункции, ассоциированной с COVID-19, не всегда могут быть осуществлены в этой группе больных за счет измененной физиологии дыхательной системы у беременных и неблагоприятного влияния на плод. На примере пациентки, у которой на фоне COVID-19 развился синдром множественной органной дисфункции (острый респираторный дистресс-синдром тяжелой степени (PaO2/FiO 2 96), коагулопатия), продемонстрировано успешное применение в послеродо­вом периоде комбинированной экстракорпоральной поддержки жизнедеятельности, сочетающей в себе вено-венозную экстракорпоральную мембранную оксигенацию, терапевтический плазмообмен и заместительную почечную терапию с использованием универсального сета oXiris

High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

<p>Abstract</p> <p>Background</p> <p>A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations constitute the vast majority of BRCA defects in Russia, however their impact in OC morbidity has not been yet systematically studied. Furthermore, Russian population is characterized by a relatively high frequency of CHEK2 and NBS1 (NBN) heterozygotes, but it remains unclear whether these two genes contribute to the OC risk.</p> <p>Methods</p> <p>The study included 354 OC patients from 2 distinct, geographically remote regions (290 from North-Western Russia (St.-Petersburg) and 64 from the south of the country (Krasnodar)). DNA samples were tested by allele-specific PCR for the presence of 8 founder mutations (BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT, CHEK2 1100delC, CHEK2 IVS2+1G>A, NBS1 657del5). In addition, literature data on the occurrence of BRCA1, BRCA2, CHEK2 and NBS1 mutations in non-selected ovarian cancer patients were reviewed.</p> <p>Results</p> <p>BRCA1 5382insC allele was detected in 28/290 (9.7%) OC cases from the North-West and 11/64 (17.2%) OC patients from the South of Russia. In addition, 4 BRCA1 185delAG, 2 BRCA1 4153delA, 1 BRCA2 6174delT, 2 CHEK2 1100delC and 1 NBS1 657del5 mutation were detected. 1 patient from Krasnodar was heterozygous for both BRCA1 5382insC and NBS1 657del5 variants.</p> <p>Conclusion</p> <p>Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin. Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.</p

Cause of Death and Predictors of All-Cause Mortality in Anticoagulated Patients With Nonvalvular Atrial Fibrillation : Data From ROCKET AF

M. Kaste on työryhmän ROCKET AF Steering Comm jäsen.Background-Atrial fibrillation is associated with higher mortality. Identification of causes of death and contemporary risk factors for all-cause mortality may guide interventions. Methods and Results-In the Rivaroxaban Once Daily Oral Direct Factor Xa Inhibition Compared with Vitamin K Antagonism for Prevention of Stroke and Embolism Trial in Atrial Fibrillation (ROCKET AF) study, patients with nonvalvular atrial fibrillation were randomized to rivaroxaban or dose-adjusted warfarin. Cox proportional hazards regression with backward elimination identified factors at randomization that were independently associated with all-cause mortality in the 14 171 participants in the intention-to-treat population. The median age was 73 years, and the mean CHADS(2) score was 3.5. Over 1.9 years of median follow-up, 1214 (8.6%) patients died. Kaplan-Meier mortality rates were 4.2% at 1 year and 8.9% at 2 years. The majority of classified deaths (1081) were cardiovascular (72%), whereas only 6% were nonhemorrhagic stroke or systemic embolism. No significant difference in all-cause mortality was observed between the rivaroxaban and warfarin arms (P=0.15). Heart failure (hazard ratio 1.51, 95% CI 1.33-1.70, P= 75 years (hazard ratio 1.69, 95% CI 1.51-1.90, P Conclusions-In a large population of patients anticoagulated for nonvalvular atrial fibrillation, approximate to 7 in 10 deaths were cardiovascular, whereasPeer reviewe

Differential approach in selecting beta-adrenoblocker therapy for patients with chronic heart failure and anaemia

Currently, beta-adrenoblockers (β-AB) are regarded as one of the major medication classes in the treatment of patients with chronic heart failure (CHF). In several international studies, β -AB therapy of CHF patients was associated with reduced levels of haemoglobin (Hb) and development of new anaemia cases. Anaemia is known as an adverse prognostic factor in CHF. Aim. To study the effects of β -AB therapy on the anaemia clinical course among CHF patients. Material and methods. The study included 90 ambulatory patients with Functional Class (FC) II-IV CHF and anaemia. The participants were divided into 3 equally sized groups (n=30 per group) and treated with carvedilol, metoprolol, or nebivolol for 6 months. Results. By the end of the follow-up, baseline Hb levels increased in the nebivolol group (p=0,028), and were also significantly higher than in the other two groups. In the carvedilol group, the levels of haematocrit (Ht) and glomerular filtration rate (GFR) significantly decreased (p=0,017 and 0,06, respectively). In the metoprolol group, no substantial changes of laboratory parameters were observed. The maximal reduction in baseline CHF FC was registered in the patients receiving nebivolol (p=0,037). A significant improvement in myocardial contractility, based on the echocardiography data, was registered in the carvedilol and nebivolol groups. Conclusion. Nebivolol therapy was associated with a significantly more pronounced reduction in pro-BNP levels, compared to carvedilol or metoprolol treatment (p&lt;0,001). The nebivolol group also demonstrated the most pronounced improvement in quality of life of CHF patients (p&lt;0,001). These findings suggest that nebivolol could be recommended as a medication of choice in patients with CHF and anaemia