A5102991952- Chronic Obstructive Pulmonary Disease (COPD) Research
- Respiratory Support and Mechanisms
- Cardiovascular Effects of Exercise
- Asthma and respiratory diseases
- Respiratory and Cough-Related Research
- Cardiac Arrhythmias and Treatments
- Cardiomyopathy and Myosin Studies
- Cardiovascular and exercise physiology
- Genomic variations and chromosomal abnormalities
- Immune Cell Function and Interaction
- Airway Management and Intubation Techniques
- Myasthenia Gravis and Thymoma
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- Congenital heart defects research
- Cardiovascular Function and Risk Factors
- Genomics and Chromatin Dynamics
- Cardiac Arrest and Resuscitation
- Cardiac Imaging and Diagnostics
- Cardiovascular and Diving-Related Complications
- T-cell and B-cell Immunology
- Down syndrome and intellectual disability research
- Inhalation and Respiratory Drug Delivery
- Parkinson's Disease and Spinal Disorders
IRCCS Materno Infantile Burlo Garofolo
2018-2024
Sapienza University of Rome
2024
Institute of Sports Medicine and Science
2024
The University of Texas Southwestern Medical Center
2023
University of Udine
2019-2022
University of Modena and Reggio Emilia
2021
University of Padua
2017-2020
Ospedale Santa Corona
2001
University of Florence
1986-1997
Florence (Netherlands)
1985-1995
Breast cancer (BC) in men is rare and genetic predisposition likely to play a relevant role its etiology. Inherited mutations BRCA1/2 account for about 13% of all cases additional genes that may contribute the missing heritability need be investigated. In our study, well‐characterized series 523 male BC (MBC) patients from Italian multicenter study on MBC, enriched non‐ MBC cases, was screened by multigene custom panel 50 cancer‐associated genes. The main clinical‐pathologic characteristics...
Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature to give a comprehensive picture.We performed ultradeep targeted next-generation sequencing (NGS)...
The most important factor that complicates the work of dysmorphologists is significant phenotypic variability human face. Next-Generation Phenotyping (NGP) tools assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted patients from populations different their training data. To end, we systematically analyzed impact genetic ancestry on facial dysmorphism. For purpose, established GestaltMatcher Database (GMDB) as a reference dataset for...
Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context European collaborative study, we collected largest cohort KBGS patients (49). A combined array- based Comparative Genomic Hybridization next generation sequencing (NGS) approach investigated both genomic Copy...
Ventilatory efficiency during cardiopulmonary exercise testing (CPET) is obtained by relating minute ventilation (V'E) to CO2 output (V'CO2). Limited information available regarding ventilatory in young elite athletes. We assessed athletes; evaluating the influence of sex and/or ESC sport categories; agreement between V'E/V'CO2 slope and nadir measuring efficiency; differences subgroups athletes stratified efficiency. A cohort 443 prospectively underwent CPET. The (s1) intercept linear...
Background: Various creatinine-based equations are used to estimate the glomerular filtration rate (eGFR) in athletes, but each has limitations. The aim of our study was identify most suitable formula for use athletes. Methods: We evaluated 490 Olympic athletes (27 ± 5.3 yo) with normal values serum creatinine and no history kidney diseases. Athletes were divided into those practicing skills endurance disciplines. EGFR calculated Cockcroft–Gault (CG), MDRD, MCQE CKD-EPI, classified as stages...
To ascertain whether and to what extent the reduced ventilatory response a hypercapnic stimulus in chronic obstructive pulmonary disease (COPD) patients depends on blunted chemoresponsiveness of central origin or mechanical impairment, we studied two groups COPD without (group A) with B) hypercapnia, but similar degrees airway obstruction hyperinflation. The study was performed 17 (9 normocapnic 8 hypercapnic). Six age-matched normal subjects C) were also as control. During CO2 rebreathing...
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations PALB2 and CHEK2 may also increase MBC risk. Overall, these functionally linked to DNA repair pathways, highlighting the central role genome maintenance genetic predisposition. MUTYH is a gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome. Monoallelic have been reported families both colorectal there some evidence on women...
Control of breathing has seldom been investigated in patients with myasthenia gravis (MG). We evaluated lung volumes and respiratory muscle strength by measuring maximal inspiratory (MIP) expiratory (MEP) pressures 12 moderate generalized (IIb) MG before after an orally administered therapeutic dose (120 mg) Mestinon™, 11 age- sex-matched normal subjects. Breathing pattern, mouth occlusion pressure (P0.1), surface electromyographic activity the diaphragm (EMGd) Intercostal (EMGint) muscles...
Platelet activation has been suggested to play a crucial role in the pathogenesis of haemostatic disorders antiphospholipid syndrome (APS). In 16 patients with primary APS (PAPS) we investigated by flow cytometry presence circulating activated platelets as defined surface expression activation-dependent glycoproteins CD62 and CD63. addition, relationships among platelets, thrombocytopenia, antibodies (aPL) platelet associated IgG (PalgG) were evaluated. Compared normal subjects CD62, but not...
The effects of intravenous infusion aminophylline on respiratory muscle interaction were examined in seven normal subjects breathing at rest. Rib cage (RC-Ap) and abdominal (AB-Ap) volume displacements, pleural (Ppl), gastric (Pg), transdiaphragmatic (Pdi) pressure swings, electromyographic activity the diaphragm (Edi) parasternal (Eps) muscles measured under control during either or placebo a double-blind randomized manner. Compared with placebo, induced an increase ventilation (p < 0.01)...
SUMMARY A I‐year‐old girl with severe Christmas disease and a factor IX content less than 1% of normal is described. The family history was negative coagulation studies on her relatives were normal. Genetic investigation showed an XXp‐karyotype deletion the short arm one X‐chromosome, cytogenetic variant Turner syndrome. transmission pathway haemophilia gene discussed.
BACKGROUND--Pyridostigmine, an acetylcholinesterase antagonist, is useful in improving respiratory function patients with myasthenia gravis. More recently, plasma exchange has been employed gravis because it acts presumably by removal of circulating antibodies against acetylcholine receptors. Surprisingly, comparative data on the effects pyridostigmine and lung volumes, muscle strength, ventilatory control system are lacking. METHODS--Nine consecutive grade IIb were studied under conditions...
This study was undertaken in order to assess the neural drive respiratory muscles and inspiratory neuromuscular coupling patients with bronchial asthma during histamine-induced bronchoconstriction. Bronchoconstriction produced a graded fashion, histamine phosphate aerosol of increasing dose, twelve asymptomatic asthmatic measured by FEV1. Inspiratory electromyographic activity diaphragm (EMGd) assessed relationship mouth occlusion pressure (P0.1) EMGd. During test we also intercostal...