Project description:XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor signalling [1], and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity [2]. 7 patients have been described in the literature; the oldest died at 45 years and was diagnosed posthumously [1-3]. We present the case of a 58-year-old Caucasian gentleman with a novel mutation in MAGT1 with the aim of adding to the phenotype of this newly described disease by detailing his clinical course over more than 20 years.
Project description:A 64-year-old man presented with several weeks of intermittent irregular palpitations. He had no prior history of cardiac disease, hypertension or syncope. A 12-lead ECG revealed sinus rhythm with premature atrial and ventricular contractions and high QRS voltages consistent with LV-hypertrophy. Cardiac MR revealed asymmetrical septal hypertrophy and marked mid-myocardial hyperenhancement of the interventricular septum.
Project description:Objectives: To develop and validate a radiomics model for distinguishing coronavirus disease 2019 (COVID-19) pneumonia from influenza virus pneumonia. Materials and Methods: A radiomics model was developed on the basis of 56 patients with COVID-19 pneumonia and 90 patients with influenza virus pneumonia in this retrospective study. Radiomics features were extracted from CT images. The radiomics features were reduced by the Max-Relevance and Min-Redundancy algorithm and the least absolute shrinkage and selection operator method. The radiomics model was built using the multivariate backward stepwise logistic regression. A nomogram of the radiomics model was established, and the decision curve showed the clinical usefulness of the radiomics nomogram. Results: The radiomics features, consisting of nine selected features, were significantly different between COVID-19 pneumonia and influenza virus pneumonia in both training and validation data sets. The receiver operator characteristic curve of the radiomics model showed good discrimination in the training sample [area under the receiver operating characteristic curve (AUC), 0.909; 95% confidence interval (CI), 0.859-0.958] and in the validation sample (AUC, 0.911; 95% CI, 0.753-1.000). The nomogram was established and had good calibration. Decision curve analysis showed that the radiomics nomogram was clinically useful. Conclusions: The radiomics model has good performance for distinguishing COVID-19 pneumonia from influenza virus pneumonia and may aid in the diagnosis of COVID-19 pneumonia.
Project description:Purpose of reviewThe first studies on COVID-19 patients with acute respiratory distress syndrome (ARDS) described a high rate of secondary bacterial ventilator-associated pneumonia (VAP). The specificity of VAP diagnoses in these patients are reviewed, including their actual rate.Recent findingsPublished studies described high rates of bacterial VAP among COVID-19 patients with ARDS, and these VAP episodes are usually severe and of specifically poor prognosis with high mortality. Indeed, Severe acute respiratory syndrome - coronavirus disease 19 (SARS-CoV2) infection elicits alterations that may explain a high risk of VAP. In addition, breaches in the aseptic management of patients might have occurred when the burden of care was heavy. In addition, VAP in these patients is more frequently suspected, and more often investigated with diagnostic tools based on molecular techniques.SummaryVAP is frequented and of particularly poor prognosis in COVID-19 patients with ARDS. It can be explained by SARS-CoV-2 pathophysiology, and also breaches in the aseptic procedures. In addition, tools based on molecular techniques allow an early diagnosis and unmask VAP usually underdiagnosed by traditional culture-based methods. The impact of molecular technique-based diagnostics in improving antibacterial therapy and COVID-19 prognosis remain to be evaluated.
Project description:All giant Kawasaki aneurysms may not regress fully; some may eventually calcify, undergo thrombosis, and get detected in asymptomatic adults at later age. Tomisaku Kawasaki initially described this illness as mucocutaneous lymph node syndrome in childhood in 1967 and coronary arteritis was recognized later. We present a 58-year-old male, possibly one of the oldest surviving patients with giant coronary aneurysms who presented with large secundum atrial septal defect (ASD) with heart failure. This indicates that the disease was perhaps prevalent outside Japan even before the first Kawasaki's description.
Project description:An 84-year-old man with hypertension and type 2 diabetes presented with recurrent transient loss of consciousness within 2 hours after dinner at home. Physical examination, electrocardiogram, and laboratory studies were unremarkable except hypotension. Blood pressures were measured in different postures and within 2 hours after meal, but neither orthostatic hypotension nor postprandial hypotension was detected. Further, history taking revealed that the patient was tube-fed with a fluid food pump with an inappropriate rapid infusion rate of 1500 mL per minute at home. He was eventually diagnosed as having syncope due to postprandial hypotension, which was caused by the inappropriate way of tube feeding. The family was educated about appropriate way of tube-feeding and the patient did not develop any episode of syncope during a two-year follow-up. This case highlights the importance of careful history taking in the diagnostic evaluation of syncope and the increased risk of syncope due to postprandial hypotension in the elderly.
Project description:BackgroundExcessive inflammation contributes to the morbidity and mortality of severe coronavirus disease 2019 (COVID-19) pneumonia. Recombinant human plasma gelsolin (rhu-pGSN) improves disease outcomes in diverse experimental models of infectious and noninfectious inflammation.MethodsIn a blinded, randomized study, 61 subjects with documented COVID-19 pneumonia having a World Health Organization (WHO) Severity Score of 4 to 6 and evidence of a hyperinflammatory state were treated with standard care and either adjunctive rhu-pGSN 12 mg/kg or an equal volume of saline placebo given intravenously at entry, 12 hours, and 36 hours. The prespecified coprimary outcomes were survival without major respiratory, hemodynamic, or renal support on Day 14 and the incidence of serious adverse events (SAEs) during the 90-day study period.ResultsAll subjects receiving ≥1 dose of study drug were analyzed. Fifty-four of 61 subjects (88.5%) were WHO severity level 4 at entry. The proportions of subjects alive without support on Day 14 were 25 of 30 rhu-pGSN recipients (83.3%) and 27 of 31 placebo recipients (87.1%). Over the duration of the study, WHO Severity Scores improved similarly in both treatment groups. No statistically significant differences were observed between treatment groups at any time point examined. Two subjects died in each group. Numerically fewer subjects in the rhu-pGSN group had SAEs (5 subjects; 16.7%) or ≥ Grade 3 adverse events (5 subjects; 16.7%) than in the placebo group (8 subjects [25.8%] and 9 subjects [29.0%], respectively), mostly involving the lungs. Three rhu-pGSN recipients (10.0%) were intubated compared to 6 placebo recipients (19.4%).ConclusionsOverall, subjects in this study did well irrespective of treatment arm. When added to dexamethasone and remdesivir, no definitive benefit was demonstrated for rhu-pGSN relative to placebo. Safety signals were not identified after the administration of 3 doses of 12 mg/kg rhu-pGSN over 36 hours. The frequencies of SAEs and intubation were numerically fewer in the rhu-pGSN group compared with placebo.
Project description:Acute coronary syndromes complicated by cardiogenic shock are associated with high mortality, and patients are definitely considered at high procedural risk. We present here the 5-year success of full percutaneous management of a young patient in cardiogenic shock with acute and chronic coronary artery disease as well as significant mitral regurgitation. Whereas the benefit of culprit lesion coronary revascularization is well established, evidence supporting chronic total occlusion revascularization in the acute setting remains poor. Percutaneous management of acute mitral regurgitation with cardiogenic shock is a viable option in patients with recurrent pulmonary edema.