Search results for "Clinical phenotype"
showing 6 items of 16 documents
Treatment options in obstructive sleep apnea
2022
AbstractTreatment of OSA with CPAP is currently the recommended treatment and has the greatest evidence of efficacy on AHI, symptoms and comorbidities. Symptomatic patients with moderate-severe OSA generally have good adherence to CPAP therapy, while those with mild OSA, female, young and generally paucisymptomatic, have lower CPAP adherence, especially in the medium and long term. The recent identification of different clinical and pathophysiological phenotypes of OSA has paved the way for alternative treatments to CPAP, leading to an increasingly personalized therapy. Weight loss and lifestyle modifications are highly recommended in all obese or overweight patients. Mandibular advancement…
Feasibility of shotgun urinary proteomics for investigating prematurely born preschoolers (PBP)
2016
Background: Preterms and twins are at higher risk of respiratory morbidity later in life. Advances in proteomic approaches may allow the characterization of biomarkers involved in respiratory diseases (Mauri et al. Imm. Lett. 2014;162:2-10). Gel-free approach quantitatively identify differentially expressed proteins in relation to physiopathological conditions (Mauri&Dehò, Meth Enzymology 2008;447:99-117). This can improve the clinical reliability of the next generation of biomarkers to discriminate multiple phenotypes of childhood respiratory diseases. Aim: To assess the ability of gel-free proteomics for identifying specific protein profiles related to PBP. Methods: Urine samples were…
Impact of clinical phenotypes on management and outcomes in European atrial fibrillation patients: a report from the ESC-EHRA EURObservational Resear…
2021
Abstract Background Epidemiological studies in atrial fibrillation (AF) illustrate that clinical complexity increase the risk of major adverse outcomes. We aimed to describe European AF patients’ clinical phenotypes and analyse the differential clinical course. Methods We performed a hierarchical cluster analysis based on Ward’s Method and Squared Euclidean Distance using 22 clinical binary variables, identifying the optimal number of clusters. We investigated differences in clinical management, use of healthcare resources and outcomes in a cohort of European AF patients from a Europe-wide observational registry. Results A total of 9363 were available for this analysis. We identified three …
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
2011
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population. HBL are defined as primary or secondary according to the underlying causes. Primary monogenic HBL are caused by mutations in several known genes (APOB, PCSK9, MTP, SARA2) or mutations in genes not yet identified. Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in PCSK9 genes.…
<p>Clinical Phenotype and Response to Different Lines of Therapy in Elderly with Immune Thrombocytopenia: A Retrospective Study</p>
2020
Purpose Insufficient knowledge of primary immune thrombocytopenia purpura (ITP) in the elderly, together with a lack of clinical trial data, has resulted in wide variation in treatments. Here, we present a study focused on clinical characteristics of ITP in older subjects at diagnosis integrated with the subsequent course of the disease and treatment history. Methods In a retrospective monoinstitutional study, we evaluated >65-year-old patients with primary ITP. Clinical characteristics at the time of diagnosis were described and analyzed. We aimed to delineate whether subsequent lines of therapy influenced the number of relapses. In addition to initial regimens, we reported subsequent trea…
Personalized medicine in sleep respiratory disorders; focus on OSA diagnosis and treatment.
2017
In all fields of medicine, major efforts are currently dedicated to improve the clinical, physiological and therapeutic understanding of disease, and obstructive sleep apnoea (OSA) is no exception. The personalised medicine approach is relevant for OSA, given its complex pathophysiology and variable clinical presentation, the interactions with comorbid conditions and its possible contribution to poor outcomes. Treatment with continuous positive airway pressure (CPAP) is effective, but CPAP is poorly tolerated or not accepted in a considerable proportion of OSA patients. This review summarises the available studies on the physiological phenotypes of upper airway response to obstruction durin…