Search results for "Clinical phenotype"

A New Frailty Score for Experimental Animals Based on the Clinical Phenotype: Inactivity as a Model of Frailty.

2016

The development of animal models to study human frailty is important to test interventions to be translated to the clinical practice. The aim of this work was to develop a score for frailty in experimental animals based in the human frailty phenotype. We also tested the effect of physical inactivity in the development of frailty as determined by our score. Male C57Bl/6J mice, individually caged, were randomly assigned to one of two groups: sedentary (inactive) or spontaneous wheel-runners. We compared the sedentary versus the active lifestyle in terms of frailty by evaluating the clinical criteria used in humans: unintentional weight loss; poor endurance (running time); slowness (running sp…

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

2016

Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…

Alterations in the tear proteome of dry eye patients--a matter of the clinical phenotype.

2013

PURPOSE. Previous studies demonstrated alterations in the tear proteome of dry eye patients. The aim of the present study was to analyze tear protein patterns of dry eye patients considering different clinical phenotypes in order to examine their influence on tear film protein composition. METHODS. We applied a surface-enhanced laser desorption/ ionization-time-of-flight (SELDI-TOF)/matrix-assisted laser desorption/ionization-time-of-flight (MALDI-TOF)/TOF mass spectrometry (MS)‐based strategy to detect/identify candidate biomarkers. Tear samples of 169 patients, enrolled in two independent studies, were analyzed. Patients were subdivided into healthy controls (CTRL: N ¼ 39), aqueous-defici…

Smoking in COPD Patients: A New Clinical Phenotype?

2017

Clinical Evolution and Quality of Life in Clinically Based COPD Chronic Bronchitic and Emphysematous Phenotypes: Results from the 1-Year Follow-Up of…

2021

Francesco Blasi, 1, 2 Raffaele Antonelli Incalzi, 3 Giorgio Walter Canonica, 4 Pietro Schino, 5 Giuseppina Cuttitta, 6 Alessandro Zullo, 7 Alessandra Ori, 7 Nicola Scichilone 8 On behalf of STORICO study group 1Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, 20122, Italy; 2Department of Pathophysiology and Transplantation, University of Milan, Milan, 20122, Italy; 3University Biomedical Campus of Rome, Rome, 00128, Italy; 4Personalized Medicine Asthma & Allergy Clinic Humanitas University Humanitas research Hospital Rozzano, Rozzano (Milan), 20089, Italy; 5Miulli Hospital, Acquaviva …

Recurrence of a laryngeal spindle cell sarcoma with a transformation into a higher grade of malignancy.

2009

Primary malignant mesenchymal neoplasms of the larynx are rare. Sarcomas of the larynx account for <1% of all malignant laryngeal mesenchymal neoplasms. This report examines a case of a recurring laryngeal, initial benign-appearing mesenchymal tumour, which first changed its clinical phenotype without any histological signs of malignancy and later also its histological appearance with signs of malignancy. Finally, it even underwent a transformation into a higher grade of malignancy. In addition to this, the difficulties of allocating this tumour to the correct sarcoma subentity are shown.

Circadian rhythm of COPD symptoms in clinically based phenotypes. Results from the STORICO Italian observational study

2019

Abstract Background Chronic Obstructive Pulmonary Disease (COPD) encompasses various phenotypes that severely limit the applicability of precision respiratory medicine. The present investigation is aimed to assess the circadian rhythm of symptoms in pre-defined clinical COPD phenotypes and its association with health-related quality of life (HR-QoL), the quality of sleep and the level of depression/anxiety in each clinical phenotype. Methods The STORICO (NCT03105999) Italian observational prospective cohort study enrolled COPD subjects. A clinical diagnosis of either chronic bronchitis (CB), emphysema (EM) or mixed COPD-asthma (MCA) phenotype was made by clinicians at enrollment. Baseline e…

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

2011

Abstract We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6…

Mediterranean Diet and Gene-Mediterranean Diet Interactions in Determining Intermediate Cardiovascular Disease Phenotypes

2012

According to European statistics, 2008 for CVD, the leading causes of death in Europe are coronary heart disease and stroke. In Europe, deaths from these diseases are 4.3 million each year. Nearly half (48%) of all deaths are due to CVD (54% of deaths in women and 43% of deaths in men). Regional variations in cardiovascular mortality have been observed both between and within countries in Europe (Sans et al., 1997; Muller et al., 2004). Coronary heart disease mortality patterns showed a clear north–east to south–west gradient in CVD mortality (1990–1992; 45–74 years age-adjusted) with the lowest rates for both men and women in France, Spain, Switzerland, and Italy (Sans et al., 1997). Many …

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

2017

Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition—even in homozygous subjects—to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the c…