Myxofibrosarcoma of the maxillary sinus: a case report

[ES] El mixofibrosarcoma, también denominado variante mixoide del histiocitoma fibroso maligno, se localiza predominantemente en extremidades y retroperitoneo de varones de edad adulta. Su incidencia en el área ORL es muy baja, por lo que su diagnóstico es a menudo complicado. Presenta alto índice de recidivas, aunque menor de metástasis a distancia. El único tratamiento efectivo es la resección quirúrgica completa, con escasa respuesta a quimio y radioterapia, Presentamos el caso de un mixofibrosarcoma de alto grado de seno maxilar y fosa nasal izquierdos, tratado con cirugía y quimioradioterapia con mala evolución clínica. [EN] Myxofibrosarcoma, also known as myxoid variant of malignant fibrosis histiocytoma, is often located in the extremities and retroperitoneum of adult males. Its incidence in the ENT area is very low, therefore its diagnosis is often complicated. It has a high rate of local recurrence, although it has low rate of distant metastases. The only effective treatment is complete surgical resection, with little response to chemotherapy and radiotherapy. We present the case of a high-grade myxofibrosarcoma of the left maxillary sinus and nasal cavity, wich we treated with surgery and chemoradiation, but with bad clinical evolution

Anti-Neuroinflammatory effects of the extract of Achillea fragrantissima

<p>Abstract</p> <p>Background</p> <p>The neuroinflammatory process plays a central role in the initiation and progression of neurodegenerative diseases such as Parkinson's and Alzheimer's diseases, and involves the activation of brain microglial cells. During the neuroinflammatory process, microglial cells release proinflammatory mediators such as cytokines, matrix metalloproteinases (MMP), Reactive oxygen species (ROS) and nitric oxide (NO). In the present study, extracts from 66 different desert plants were tested for their effect on lipopolysaccharide (LPS) - induced production of NO by primary microglial cells. The extract of <it>Achillea fragrantissima </it>(<it>Af</it>)<it/>, which is a desert plant that has been used for many years in traditional medicine for the treatment of various diseases, was the most efficient extract, and was further studied for additional anti-neuroinflammatory effects in these cells.</p> <p>Methods</p> <p>In the present study, the ethanolic extract prepared from <it>Af </it>was tested for its anti-inflammatory effects on lipopolysaccharide (LPS)-activated primary cultures of brain microglial cells. The levels of the proinflammatory cytokines interleukin1β (IL-1β) and tumor necrosis factor-α (TNFα) secreted by the cells were determined by reverse transcriptase-PCR and Enzyme-linked immunosorbent assay (ELISA), respectively. NO levels secreted by the activate cells were measured using Griess reagent, ROS levels were measured by 2'7'-dichlorofluorescein diacetate (DCF-DA), MMP-9 activity was measured using gel zymography, and the protein levels of the proinflammatory enzymes cyclooxygenase-2 (COX-2) and induced nitric oxide synthase (iNOS) were measured by Western blot analysis. Cell viability was assessed using Lactate dehydrogenase (LDH) activity in the media conditioned by the cells or by the crystal violet cell staining.</p> <p>Results</p> <p>We have found that out of the 66 desert plants tested, the extract of <it>Af </it>was the most efficient extract and inhibited ~70% of the NO produced by the LPS-activated microglial cells, without affecting cell viability. In addition, this extract inhibited the LPS - elicited expression of the proinflammatory mediators IL-1β, TNFα, MMP-9, COX-2 and iNOS in these cells.</p> <p>Conclusions</p> <p>Thus, phytochemicals present in the <it>Af </it>extract could be beneficial in preventing/treating neurodegenerative diseases in which neuroinflammation is part of the pathophysiology.</p

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Mastoid obliteration and canal wall reconstruction with posterior auricular artery (PAA) fascia-periosteum flap

Objective: Unstable cavities are defined as cavities with cerumen accumulation that need frequent cavity cleaning in the out-patient clinic, cavities that are intolerant to water due to risk of infection or that are subject to frequent infection and otorrhoea. The objective of this study is to address the problem of troublesome mastoid cavities, with the performance of secondary mastoid obliteration and canal wall reconstruction, using a novel posterior auricular artery (PAA) fascia-periosteum flap. Materials and methods: A prospective study was designed, only secondary obliterations were included. Unstable mastoid cavities were defined as Merchant grade 2 or 3 and were included for surgery. Results: At 12 months of follow up, a complete external auditory canal (EAC) and a self-cleaning ear were achieved in all 23 patients. Completely dry ears were achieved in 21 patients (91.3%). An air-bone gap improvement of 5dB was achieved. Conclusion: Mastoid obliteration and EAC reconstruction are effective procedures to treat troublesome post canal wall down mastoid cavities. They improve quality of life and enable patients to overcome ear discharge. A standard EAC size enables the utilization of conventional hearing aids, it also reduces the need for constant mastoid cleaning and decreases healthcare expenses. The PAA flap seems to be an effective procedure to achieve all these features, as it is used to obliterate the mastoid and becomes a structural component of the neo-EAC

Short-Term total and wildfire fine particulate matter exposure and work loss in California

Background: Few studies investigated the impact of particulate matter (PM2.5) on some symptom exacerbations that are not perceived as severe enough to search for medical assistance. We aimed to study the association of short-term daily total PM2.5 exposure with work loss due to sickness among adults living in California. Methods: We included 44,544 adult respondents in the workforce from 2015 to 2018 California Health Interview Survey data. Daily total PM2.5 concentrations were linked to respondents’ home addresses from continuous spatial surfaces of PM2.5 generated by a geostatistical surfacing algorithm. We estimated the effect of a 2-week average of daily total PM2.5 exposure on work loss using logistic regression models. Results: About 1.69% (weighted percentage) of adult respondents reported work loss in the week before the survey interview. The odds ratio of work loss was 1.45 (odds ratio [OR] = 1.45, 95% confidence interval [CI]: 1.03, 2.03) when a 2-week average of daily total PM2.5 exposure was higher than 12 µg/m3. The OR for work loss was 1.05 (95% CI: 0.98, 1.13) for each 2.56ug/m3 increase in the 2-week average of daily total PM2.5 exposure, and became stronger among those who were highly exposed to wildfire smoke (OR = 1.06, 95% CI: 1.00, 1.13), compared to those with lower wildfire smoke exposure (OR = 1.04, 95% CI: 0.79, 1.39). Conclusions: Our findings suggest that short-term ambient PM2.5 exposure is positively associated with work loss due to sickness and the association was stronger among those with higher wildfire smoke exposure. It also indicated that the current federal and state PM2.5 standards (annual average of 12 µg/m3) could be further strengthened to protect the health of the citizens of California

HFA of the ESC Position paper on the management of LVAD supported patients for the non LVAD specialist healthcare provider Part 1: Introduction and at the non-hospital settings in the community

The accepted use of left ventricular assist device (LVAD) technology as a good alternative for the treatment of patients with advanced heart failure together with the improved survival of the LVAD-supported patients on the device and the scarcity of donor hearts has significantly increased the population of LVAD-supported patients. The expected and non-expected device-related and patient-device interaction complications impose a significant burden on the medical system exceeding the capacity of the LVAD implanting centres. The ageing of the LVAD-supported patients, mainly those supported with the 'destination therapy' indication, increases the risk for those patients to experience comorbidities common in the older population. The probability of an LVAD-supported patient presenting with medical emergency to a local emergency department, internal, or surgical ward of a non-LVAD implanting centre is increasing. The purpose of this trilogy is to supply the immediate tools needed by the non-LVAD specialized physician: ambulance clinicians, emergency ward physicians, general cardiologists, internists, anaesthesiologists, and surgeons, to comply with the medical needs of this fast-growing population of LVAD-supported patients. The different issues discussed will follow the patient's pathway from the ambulance to the emergency department and from the emergency department to the internal or surgical wards and eventually to the discharge home from the hospital back to the general practitioner. In this first part of the trilogy on the management of LVAD-supported patients for the non-LVAD specialist healthcare provider, after the introduction on the assist devices technology in general, definitions and structured approach to the assessment of the LVAD-supported patient in the ambulance and emergency department is presented including cardiopulmonary resuscitation for LVAD-supported patients

Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot

BACKGROUND -: Tetralogy of Fallot (TOF), the most common cyanotic heart defect in newborns, has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease susceptibility and outcomes, and could contribute to delineating pathomechanisms. METHODS -: Using a clinically-driven strategy, we re-analyzed exome sequencing data from 811 probands with TOF, to identify rare loss-of-function and other likely pathogenic variants in genes associated with congenital heart disease (CHD). RESULTS -: We confirmed a major contribution of likely pathogenic variants in FLT4 (VEGFR3; n=14) and NOTCH1 (n=10), and identified 1–3 variants in each of 21 other genes, including ATRX, DLL4, EP300, GATA6, JAG1, NF1, PIK3CA, RAF1, RASA1, SMAD2, and TBX1. In addition, multiple loss-of-function variants provided support for three emerging CHD/TOF candidate genes: KDR (n=4), IQGAP1 (n=3), and GDF1 (n=8). In total, these variants were identified in 63 probands (7.8%). Using the 26 composite genes in a STRING protein interaction enrichment analysis revealed a biologically relevant network (p-value 3.3e-16), with VEGFR2 (KDR) and NOTCH1 representing central nodes. Variants associated with arrhythmias/sudden death and/or heart failure indicated factors that could influence long-term outcomes. CONCLUSIONS -: The results are relevant to precision medicine for TOF. They suggest considerable clinical yield from genome-wide sequencing, with further evidence for KDR (VEGFR2) as a CHD/TOF gene, and for vascular endothelial growth factor (VEGF) and Notch signaling as mechanisms in human disease. Harnessing the genetic heterogeneity of single gene defects could inform etiopathogenesis and help prioritize novel candidate genes for TOF

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 and its closest homolog, FOXP1, are coexpressed in brain regions that are important for language and cooperatively regulate developmental processes, raising the possibility that FOXP1 may also be involved in developmental conditions that are associated with language impairment. In order to explore this possibility, we searched for mutations in FOXP1 in patients with intellectual disability (ID; mental retardation) and/or autism spectrum disorders (ASD). We first performed array-based genomic hybridization on sporadic nonsyndromic ID (NSID) (n = 30) or ASD (n = 80) cases. We identified a de novo intragenic deletion encompassing exons 4–14 of FOXP1 in a patient with NSID and autistic features. In addition, sequencing of all coding exons of FOXP1 in sporadic NSID (n = 110) or ASD (n = 135) cases, as well as in 570 controls, revealed the presence of a de novo nonsense mutation (c.1573C>T [p.R525X]) in the conserved forkhead DNA-binding domain in a patient with NSID and autism. Luciferase reporter assays showed that the p.R525X alteration disrupts the activity of the protein. Formal assessments revealed that both patients with de novo mutations in FOXP1 also show severe language impairment, mood lability with physical aggressiveness, and specific obsessions and compulsions. In conclusion, both FOXP1 and FOXP2 are associated with language impairment, but decrease of the former has a more global impact on brain development than that of the latter