Search results for "PHENOTYPES"
showing 10 items of 66 documents
DNA Methylation and Potential for Epigenetic Regulation in Pygospio elegans.
2015
Transitions in developmental mode are common evolutionarily, but how and why they occur is not understood. Developmental mode describes larval phenotypes, including morphology, ecology and behavior of larvae, which typically are generalized across different species. The polychaete worm Pygospio elegans is one of few species polymorphic in developmental mode, with multiple larval phenotypes, providing a possibility to examine the potential mechanisms allowing transitions in developmental mode. We investigated the presence of DNA methylation in P. elegans, and, since maternal provisioning is a key factor determining eventual larval phenotype, we compared patterns of DNA methylation in females…
The COPD multi-dimensional phenotype: A new classification from the STORICO Italian observational study.
2019
BackgroundThis paper is aimed to (i) develop an innovative classification of COPD, multi-dimensional phenotype, based on a multidimensional assessment; (ii) describe the identified multi-dimensional phenotypes.MethodsAn exploratory factor analysis to identify the main classificatory variables and, then, a cluster analysis based on these variables were run to classify the COPD-diagnosed 514 patients enrolled in the STORICO (trial registration number: NCT03105999) study into multi-dimensional phenotypes.ResultsThe circadian rhythm of symptoms and health-related quality of life, but neither comorbidity nor respiratory function, qualified as primary classificatory variables. Five multidimension…
Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large…
2016
PLoS one 11(4), e0152984 (2016). doi:10.1371/journal.pone.0152984
Do the current guidelines for heart failure diagnosis and treatment fit with clinical complexity?
2022
Heart failure (HF) is a clinical syndrome defined by specific symptoms and signs due to structural and/or functional heart abnormalities, which lead to inadequate cardiac output and/or increased intraventricular filling pressure. Importantly, HF becomes progressively a multisystemic disease. However, in August 2021, the European Society of Cardiology published the new Guidelines for the diagnosis and treatment of acute and chronic HF, according to which the left ventricular ejection fraction (LVEF) continues to represent the pivotal parameter for HF patients’ evaluation, risk stratification and therapeutic management despite its limitations are well known. Indeed, HF has a complex pathophys…
Moving from the Oslerian paradigm to the postgenomic era: Are asthma and COPD outdated terms?
2016
In the majority of cases, asthma and chronic obstructive pulmonary disease (COPD) are two clearly distinct disease entities. However, in some patients there may be significant overlap between the two conditions. This constitutes an important area of concern because these patients are generally excluded from randomised controlled trials (mostly because of smoking history in the case of asthma or because of significant bronchodilator reversibility in the case of COPD). As a result, their pathobiology, prognosis and response to therapy are largely unknown. This may lead to suboptimal management and can limit the development of more personalised therapeutic options. Emerging genetic and molecul…
Visual memory dysfunction as a neurocognitive endophenotype in bipolar disorder patients and their unaffected relatives. Evidence from a 5-year follo…
2019
BACKGROUND: Scarce research has focused on Visual Memory (VM) deficits as a possible neurocognitive endophenotype of bipolar disorder (BD). The main aim of this longitudinal, family study with healthy controls was to explore whether VM dysfunction represents a neurocognitive endophenotype of BD. METHODS: Assessment of VM by Rey-Osterrieth Complex Figure Test (ROCF) was carried out on a sample of 317 subjects, including 140 patients with BD, 60 unaffected first-degree relatives (BD-Rel), and 117 genetically-unrelated healthy controls (HC), on three occasions over a 5-year period (T1, T2, and T3). BD-Rel group scores were analyzed only at T1 and T2. RESULTS: Performance of BD patients was sig…
Neurocognitive endophenotypes in schizophrenia and bipolar disorder: A systematic review of longitudinal family studies
2018
Although there is substantial evidence supporting the existence of neurocognitive impairment in patients diagnosed with schizophrenia (SZ) and bipolar disorder (BD), few studies have explored the field from an endophenotypic perspective. The present systematic review sought to identify longitudinal family studies exploring suitable neurocognitive endophenotypes in unaffected relatives of patients with SZ and/or BD. Following the PRISMA statement, only five follow-up studies met the inclusion criteria, comprising 79 SZ patients, 159 SZ unaffected relatives of SZ, 131 BD patients, 77 unaffected relatives of BD, and 248 controls. Verbal memory, auditory attention, face memory and emotion proce…
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…
Hybridization in Capparis spinosa L.: Molecular and morphological evidence from a Mediterranean island complex
2014
Inter-Simple Sequence Repeat (ISSR) molecular markers and morphological analysis were used in order to characterize wild populations and cultivated forms of orphan crop species Capparis spinosa L. in a Mediterranean island complex. Nineteen wild populations belonging to two different subspecies, C. spinosa subsp. spinosa and subsp. rupestris, were sampled in different environments in Sicily and the surrounding islets Lampedusa, Pantelleria and Salina. Different biotypes cultivated in Pantelleria and Salina were analyzed. Six ISSR primers were selected for genetic characterization, and all clear and reproducible bands were scored and analyzed. Among the 47 ISSR bands obtained, 97.5% were pol…
Therapeutic effects of benralizumab assessed in patients with severe eosinophilic asthma: Real-life evaluation correlated with allergic and non-aller…
2021
Corrado Pelaia,1 Claudia Crimi,2 Alida Benfante,3 Maria Filomena Caiaffa,4 Cecilia Calabrese,5 Giovanna Elisiana Carpagnano,6 Domenico Ciotta Jnr,7 Maria D’Amato,8 Luigi Macchia,9 Santi Nolasco,2 Girolamo Pelaia,1 Simona Pellegrino,7 Nicola Scichilone,3 Giulia Scioscia,10 Giuseppe Spadaro,11 Giuseppe Valenti,12 Alessandro Vatrella,7 Nunzio Crimi2 1Department of Health Sciences, University “Magna Graecia” of Catanzaro, Catanzaro, Italy; 2Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; 3Department of Biomedicine and Internal and Specialistic Medicine, University of Palermo, Palermo, Italy; 4Allergology and Clinical Immunol…