Search results for "Organ dysfunction"
showing 10 items of 35 documents
Genetics and Gene Therapy of Anderson-Fabry Disease.
2018
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay …
2020
Aging is the major risk factor for the development of chronic diseases. After decades of research focused on extending lifespan, current efforts seek primarily to promote healthy aging. Recent advances suggest that biological processes linked to aging are more reliable than chronological age to account for an individual’s functional status, i.e. frail or robust. It is becoming increasingly apparent that biological aging may be detectable as a progressive loss of resilience much earlier than the appearance of clinical signs of frailty. In this context, the INSPIRE program was built to identify the mechanisms of accelerated aging and the early biological signs predicting frailty and pathologi…
Analysis on sarcoglycans expression as markers of septic cardiomyopathy in sepsis-related death
2018
The post-mortem assessment of sepsis-related death can be carry out by many methods recently suggested as microbiological and biochemical investigations. In these cases, the cause of death is a multiple organ dysfunction due to a dysregulated inflammatory response occurring after the failure of infection control process. It was highlighted also that the heart can be a target organ in sepsis which determines the so-called septic cardiomyopathy characterized by myocardial depression. Several mechanisms to explain the pathophysiology of septic cardiomyopathy were suggested, but very few studies about the structural alterations of cardiac cells responsible for myocardial depression were carried…
Managing adult patients with infectious diseases in emergency departments: international ID-IRI study.
2021
We aimed to explore factors for optimizing antimicrobial treatment in emergency departments. A single-day point prevalence survey was conducted on January 18, 2020, in 53 referral/tertiary hospitals in 22 countries. 1957 (17%) of 11557 patients presenting to EDs had infections. The mean qSOFA score was 0.37 +/- 0.74. Sepsis (qSOFA >= 2) was recorded in 218 (11.1%) patients. The mean qSOFA score was significantly higher in low-middle (1.48 +/- 0.963) compared to upper-middle (0.17 +/- 0.482) and high-income (0.36 +/- 0.714) countries ( P < 0.001). Eight (3.7%) patients with sepsis were treated as outpatients. The most common diagnoses were upper-respiratory (n = 877, 43.3%), lower-respirator…
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
2017
// Antonino Tuttolomondo 1 , Irene Simonetta 1 , Giovanni Duro 2 , Rosaria Pecoraro 1 , Salvatore Miceli 1 , Paolo Colomba 2 , Carmela Zizzo 2 , Antonia Nucera 3, 4 , Mario Daidone 1 , Tiziana Di Chiara 1 , Rosario Scaglione 1 , Vittoriano Della Corte 1 , Francesca Corpora 1 , Danai Vogiatzis 1 and Antonio Pinto 1 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy 2 CNR-IBIM: Institute of Biomedicine and Molecular Immunology “A. Monroy” Palermo, Palermo, Italy 3 Stroke Unit, Neurology, Saint Andrea Hospital, La Spezia, Italy 4 Department of Clinical Neurological Sciences, Western Univer…
Multiple organ failure as onset of Mediterranean spotted fever: a review based on a case
2016
Mediterranean spotted fever (MSF) is an infectious disease endemic in the southern regions of Italy, with an incidence of about 400 cases/year. The bacteria responsible of the disease is <em>Rickettsia conorii</em>, transmitted to humans by <em>Rhipicephalus sanguineus</em>, the common dog tick. The infection usually manifests with a characteristic symptomatologic triad: fever, exanthema and the so called <em>tache noire</em>, which is the typical eschar at the site of the tick bite. Immunoglobulin M (IgM) and IgG enzymelinked immunosorbent assay and the gold standard micro-immunofluorescent assay, allow serological diagnosis. We report the case of a man …
2020
BACKGROUND: Detailed descriptions of the patterns of disease progression of deceased coronavirus disease 2019 (COVID-19) patients have not been well explored. OBJECTIVES: This study sought to explore disease progression patterns and risk factors associated with mortality of deceased patients with COVID-19. MATERIALS AND METHODS: Epidemiological, clinical, laboratory, and imaging data (from 15 January to 26 March 2020) of laboratory-confirmed COVID-19 patients were collected retrospectively from two hospitals, Hubei province, China. Disease progression patterns of patients were analyzed based on laboratory data, radiological findings, and Sequential Organ Failure Assessment (SOFA) score. Ris…
Identifying associations between diabetes and acute respiratory distress syndrome in patients with acute hypoxemic respiratory failure: an analysis o…
2018
Background: Diabetes mellitus is a common co-existing disease in the critically ill. Diabetes mellitus may reduce the risk of acute respiratory distress syndrome (ARDS), but data from previous studies are conflicting. The objective of this study was to evaluate associations between pre-existing diabetes mellitus and ARDS in critically ill patients with acute hypoxemic respiratory failure (AHRF). Methods: An ancillary analysis of a global, multi-centre prospective observational study (LUNG SAFE) was undertaken. LUNG SAFE evaluated all patients admitted to an intensive care unit (ICU) over a 4-week period, that required mechanical ventilation and met AHRF criteria. Patients who had their AHRF…
Prognosis Biomarkers of Severe Sepsis and Septic Shock by 1H NMR Urine Metabolomics in the Intensive Care Unit.
2015
Early diagnosis and patient stratification may improve sepsis outcome by a timely start of the proper specific treatment. We aimed to identify metabolomic biomarkers of sepsis in urine by (1)H-NMR spectroscopy to assess the severity and to predict outcomes. Urine samples were collected from 64 patients with severe sepsis or septic shock in the ICU for a (1)H NMR spectra acquisition. A supervised analysis was performed on the processed spectra, and a predictive model for prognosis (30-days mortality/survival) of sepsis was constructed using partial least-squares discriminant analysis (PLS-DA). In addition, we compared the prediction power of metabolomics data respect the Sequential Organ Fai…
A Prognostic Enrichment Strategy for Selection of Patients With Acute Respiratory Distress Syndrome in Clinical Trials.
2019
Incomplete or ambiguous evidence for identifying high-risk patients with acute respiratory distress syndrome for enrollment into randomized controlled trials has come at the cost of an unreasonable number of negative trials. We examined a set of selected variables early in acute respiratory distress syndrome to determine accurate prognostic predictors for selecting high-risk patients for randomized controlled trials.A training and testing study using a secondary analysis of data from four prospective, multicenter, observational studies.A network of multidisciplinary ICUs.We studied 1,200 patients with moderate-to-severe acute respiratory distress syndrome managed with lung-protective ventil…