Transient Waterhouse-Friderichsen Syndrome in a Child: A Case Report

Waterhouse-Friderichsen syndrome (WFS) is a rare but usually fatal disease characterized by adrenal insufficiency associated to bilateral adrenal hemorrhage. It can be associated both to non-infection and a variety of infectious diseases, among which sepsis from Neisseria meningitidis accounts for more than 80% of cases. We report the case of an otherwise healthy 2-year-old child who had a WFS as a consequence of Neisseria meningitidis infection and in which we witnessed a complete recovery of adrenal function a few months after the event. The case highlights not only the difficulty of diagnosing this syndrome but also, at the same time, the extreme importance of high suspicion, early treatment, a multidisciplinary approach and, most of all, the importance of verifying the restoration of adrenal function in order to achieve a better quality of life. Int J Clin Pediatr. 2021;10(1):28-33 doi: https://doi.org/10.14740/ijcp42

Role of Cardiac Imaging: Echocardiography

Echocardiography has crucial importance in the diagnosis of dilated cardiomyopathy (DCM). Echocardiographic features of DCM are left ventricular (LV) dilation and systolic dysfunction with impaired global contractility and normal LV wall thickness and LV diastolic dysfunction with elevation in LV filling pressure. Other frequent characteristics are LV dyssynchrony, right ventricular (RV) dysfunction, atrial dilation, functional mitral and tricuspid regurgitation, and secondary pulmonary hypertension. New echocardiographic technologies can be helpful, i.e., three-dimensional (3D) echocardiography for more accurate assessment of LV volumes and ejection fraction (EF) and speckle tracking for analysis of strain particularly for early diagnosis. Of note, many echocardiographic parameters have demonstrated important prognostic value in DCM

Design and performance predictions of plus energy neighbourhoods – Case studies of demonstration projects in four different European climates

The article presents the design of four plus energy neighbourhood demonstration projects located in different climate zones in Europe. The demo projects are a part of the Horizon 2020 project ‘syn.ikia’, which aims to enable the development of sustainable plus energy neighbourhoods in different climates and contexts. In this article, we describe the active and passive building strategies and analyse the robustness of the designs with respect to different scenarios of climate change, user behaviour, and energy flexibility. Analyses were performed based on the primary energy balance, including space heating and cooling, ventilation, domestic hot water, and lighting. The performance predictions indicate that all demonstration projects may attain the plus energy balance according to the syn.ikia definition. This was achieved with high performing envelopes, efficient HVAC systems, and onsite renewable energy systems to cover the energy demand. The analysis shows that there is a significant potential for increased self-consumption of photovoltaic energy by adjusting the heating schedules and including electric vehicle charging. Testing of the designs with respect to varying climates and user-behaviours showed that there could be an increased risk of overheating, and that some of the designs may not achieve the positive energy balance in case of ‘worst case’ user behaviour scenarios.publishedVersio

EGFR and HER2 Gene Copy Number and Response to First-Line Chemotherapy in Patients with Advanced Non-small Cell Lung Cancer (NSCLC)

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Measuring total reaction cross-sections at energies near the coulomb barrier by the active target method

An experimental technique is described that is able to measure reaction cross-sections at energies around the Coulomb barrier by using low intensity beams and a Si detector as an active target. Set-up optimization was carefully investigated in terms of collimation, detector efficiency and pile-up rejection. The method has been tested by measuring the total reaction cross-section sigma(R)(E) for the (7)Li + (28)Si system in the energy range of E(lab) = 12-16 MeV. The deduced excitation function sigma(R)(E) agrees with the data obtained in a previous experiment. The presented technique can also be applied in order to determine total reaction cross-sections for low intensity radioactive beams at energies around the Coulomb barrier. (C) 2009 Elsevier B.V. All rights reserved. Nuclear Instruments & Methods in Physics Research Section a-Accelerators Spectrometers Detectors and Associated Equipmen

The discovery of the southernmost ultra-high-resolution Holocene paleoclimate sedimentary record in Antarctica

The response of the Antarctic ice sheet to climate warming is the main source of uncertainty regarding future global sea level rise, since little is known about its present and past dynamics. The last deglaciation is the most recent interval of large-scale climate warming, during which the Northern and Southern Hemisphere ice sheets retreated, and sea level rose globally, although at a non-uniform rate. Geologic records from the polar regions are fundamental in determining the factors that caused the major changes in ice sheets during the last deglacial under different boundary conditions. Here, we combine morpho-bathymetric and seismic data with sediment cores and oceanographic measurements to reconstruct the processes that influenced the deposition of the southernmost, most extensive, ultrahigh-resolution record of the Holocene in Edisto Inlet fjord (Ross Sea, Antarctica). We find that post-glacial sedimentation resulted in a layered diatom mud up to 110 m thick that was locally redistributed by bottom currents over confined drifts-moats in the central part of the fjord. After the Holocene climatic optimum, the fjord was not carved by ground ice, and there continued to be internal fjord water circulation associated with Ross Sea circulation. These results support a retreat of coastal glaciers by about 11 kiloyears ago (ka) from the continental shelf of North Victoria Land

Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context

Long noncoding RNAs (lncRNAs) are commonly dys-regulated in tumors, but only a handful are known toplay pathophysiological roles in cancer. We inferredlncRNAs that dysregulate cancer pathways, onco-genes, and tumor suppressors (cancer genes) bymodeling their effects on the activity of transcriptionfactors, RNA-binding proteins, and microRNAs in5,185 TCGA tumors and 1,019 ENCODE assays.Our predictions included hundreds of candidateonco- and tumor-suppressor lncRNAs (cancerlncRNAs) whose somatic alterations account for thedysregulation of dozens of cancer genes and path-ways in each of 14 tumor contexts. To demonstrateproof of concept, we showed that perturbations tar-geting OIP5-AS1 (an inferred tumor suppressor) andTUG1 and WT1-AS (inferred onco-lncRNAs) dysre-gulated cancer genes and altered proliferation ofbreast and gynecologic cancer cells. Our analysis in-dicates that, although most lncRNAs are dysregu-lated in a tumor-specific manner, some, includingOIP5-AS1, TUG1, NEAT1, MEG3, and TSIX, synergis-tically dysregulate cancer pathways in multiple tumorcontexts

Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN

Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin