With the advent of enzyme replacement therapy, it is important that general practitioners and physicians in a range of specialties recognize the signs and symptoms of Fabry disease so that effective treatment can be given. Baseline data from FOS demonstrate that enzyme replacement therapy should not be restricted to hemizygous men, but should be considered for both heterozygous females and children.
Enzyme replacement therapy with agalsidase alfa leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder.
Introduction: dysphagia and malnutrition are conditions that frequently appear together in hospitalized patients.Objectives: the main purpose of this study was to analyze the prevalence of malnutrition in patients with dysphagia included in the PREDyCES ® study as well as to determine its clinical and economic consequences.Methods: this is a substudy of an observational, cross-sectional study conducted in 31 sites all over Spain.Results: 352 dysphagic patients were included. 45.7% of patients presented with malnutrition (NRS ® -2002 ≥ 3) at admission and 42.2% at discharge. In elderly patients (≥ 70 years old) prevalence of malnutrition was even higher: 54.6% at admission and 57.5% at discharge. Also, prevalence of malnutrition was higher in urgent admissions versus those scheduled (45.7% vs 33.3%; p < 0.05) and when admitted to small hospitals vs. large hospitals (62.8% vs 43.9%; p < 0.001). In-hospital length of stay was higher in malnourished patients compared to those well-nourished (11.5 ± 7.1 days vs. 8.8 ± 6.05 days; p < 0.001), and in malnourished patients a tendency towards increase related-costs was also observed, even though it was not statistically significant (8 004 ± 5 854 € vs. 6 967 ± 5 630 €; p = 0.11). Length of stay was also higher in elderly patients (≥ 70 y/o) vs adults (< 70 y/o). 25% of dysphagic patients and 34.6% of malnourished patients with dysphagia received nutritional support during hospitalization.
Background The clinical presentation of COVID-19 in patients admitted to hospital is heterogeneous. We aimed to determine whether clinical phenotypes of patients with COVID-19 can be derived from clinical data, to assess the reproducibility of these phenotypes and correlation with prognosis, and to derive and validate a simplified probabilistic model for phenotype assignment. Phenotype identification was not primarily intended as a predictive tool for mortality. MethodsIn this study, we used data from two cohorts: the COVID-19@Spain cohort, a retrospective cohort including 4035 consecutive adult patients admitted to 127 hospitals in Spain with COVID-19 between Feb 2 and March 17, 2020, and the COVID-19@HULP cohort, including 2226 consecutive adult patients admitted to a teaching hospital in Madrid between Feb 25 and April 19, 2020. The COVID-19@Spain cohort was divided into a derivation cohort, comprising 2667 randomly selected patients, and an internal validation cohort, comprising the remaining 1368 patients. The COVID-19@HULP cohort was used as an external validation cohort. A probabilistic model for phenotype assignment was derived in the derivation cohort using multinomial logistic regression and validated in the internal validation cohort. The model was also applied to the external validation cohort. 30-day mortality and other prognostic variables were assessed in the derived phenotypes and in the phenotypes assigned by the probabilistic model. Findings Three distinct phenotypes were derived in the derivation cohort (n=2667)-phenotype A (516 [19%] patients), phenotype B (1955 [73%]) and phenotype C (196 [7%])-and reproduced in the internal validation cohort (n=1368)phenotype A (233 [17%] patients), phenotype B (1019 [74%]), and phenotype C (116 [8%]). Patients with phenotype A were younger, were less frequently male, had mild viral symptoms, and had normal inflammatory parameters. Patients with phenotype B included more patients with obesity, lymphocytopenia, and moderately elevated inflammatory parameters. Patients with phenotype C included older patients with more comorbidities and even higher inflammatory parameters than phenotype B. We developed a simplified probabilistic model (validated in the internal validation cohort) for phenotype assignment, including 16 variables. In the derivation cohort, 30-day mortality rates were 2•5% (95% CI 1•4-4•3) for patients with phenotype A, 30•5% (28•5-32•6) for patients with phenotype B, and 60•7% (53•7-67•2) for patients with phenotype C (log-rank test p<0•0001). The predicted phenotypes in the internal validation cohort and external validation cohort showed similar mortality rates to the assigned phenotypes (internal validation cohort: 5•3% [95% CI 3•4-8•1] for phenotype A, 31•3% [28•5-34•2] for phenotype B, and 59•5% [48•8-69•3] for phenotype C; external validation cohort: 3•7% [2•0-6•4] for phenotype A, 23•7% [21•8-25•7] for phenotype B, and 51•4% [41•9-60•7] for phenotype C).Interpretation Patients admitted to hospital with COVID-19 can be classified into three...
Several immunomodulatory agents are used in the treatment of epidermal necrolysis, but evidence of their efficacy is limited. The Autonomous Community of Madrid has two reference burn units to which all patients with epidermal necrolysis are referred. One burn unit has mostly used cyclosporine (CsA), and the other has used non-CsA therapies (mainly high-dose intravenous immunoglobulin). The allocation of patients to one or the other burn unit was mainly based on proximity, resembling a random assignment. Thus, we took advantage of this "natural experiment" to estimate the mortality risk ratio (MRR) of CsA (n = 26) compared with non-CsA (n = 16) treatment using hospital as an instrumental variable over the period from 2001 to 2015. We also computed the observed versus expected (O/E) MRR in a case series of 49 CsA-treated patients (including 23 patients from other regions treated in Madrid), and using the Score for Toxic Epidermal Necrolysis (i.e., SCORTEN) scale to estimate the expected values. The instrumental variable-based MRR of CsA versus non-CsA was 0.09 (95% confidence interval = 0.00-0.49). The O/E analysis also showed a reduction in mortality risk (MRR = 0.42; 95% confidence interval = 0.14-0.99). We identified five other case series of CsA-treated patients providing MRR and meta-analyzed their results. The pooled MRR (including from this study) was 0.41 (95% confidence interval = 0.21-0.80). All three approaches consistently show that CsA reduces the mortality in epidermal necrolysis patients.
This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry disease.
The term Transfusion-Related Acute Lung Injury (TRALI) was coined in 1985. It is a relatively rare, life-threatening clinical syndrome characterized by acute respiratory failure and non-cardiogenic pulmonary edema during or following a blood transfusion. Although its true incidence is unknown, a rate 1 out of every 5000 transfusions has been quoted. TRALI has been the most common cause of transfusion-related fatalities during three years in the USA. Two different etiologies have been proposed. The first is a single antibody-mediated event involving the transfusion of anti-HLA or antigranulocyte antibodies into patients whose leukocytes express the cognate antigens. The second is a two-event model: the first event is related to the clinical condition of the patient (sepsis, trauma, etc.) resulting in pulmonary endothelial activation and neutrophil sequestration, and the second event is the transfusion of a biologic response modifier that activates these adherent polymorphonuclear leukocytes resulting in endothelial damage and capillary leak. The patient management is support as needed based on the severity of the clinical picture and strategies to prevent TRALI are focused on: donor-exclusion policies, product management strategies and avoidance of unnecessary transfusions.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.