A5020247575- Genomic variations and chromosomal abnormalities
- Rheumatoid Arthritis Research and Therapies
- Musculoskeletal synovial abnormalities and treatments
- Orthopedic Infections and Treatments
- Diet and metabolism studies
- Gut microbiota and health
- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Viral Infections and Immunology Research
- Nutritional Studies and Diet
- Pharmacology and Obesity Treatment
- Infective Endocarditis Diagnosis and Management
- Cardiomyopathy and Myosin Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Gastrointestinal motility and disorders
- Nutrition and Health in Aging
- Spondyloarthritis Studies and Treatments
- Diverse Musicological Studies
- Ear Surgery and Otitis Media
Azienda di Servizi alla Persona di Pavia (Italy)
2020-2023
University of Pavia
2020-2023
University of Padua
2011-2023
Città della Speranza Foundation
2017
Nuovo Ospedale San Giovanni di Dio
2016
The potential role of sonography in evaluating the response to therapy persistent knee joint synovitis (KJS) was assessed a longitudinal study pre- and post-arthroscopic (AS) synovectomy rheumatoid psoriatic patients. At entry study, ultrasound (US) detection synovial proliferation compared with arthroscopic visualization as 'gold standard' reference. US effusion thickness measures predominant patterns were recorded by comparing clinical indices before at 2, 6 12 months after AS synovectomy,...
The objective of this study was to verify the accuracy ultrasonography in assessing topography, morphology, and extent synovial proliferation rheumatoid psoriatic knee joint synovitis. Findings were compared those obtained using prospective arthroscopy as gold standard; addition, topographically defined sonographic findings before after arthroscopic synovectomy compared. Sonographic examination performed 12 patients with arthritis (13 knees) 13 (14 who had synovitis an electronic linear...
A long-term prospective study was performed to evaluate the safety and outcome of surgical arthroscopy (AS) for persistent rheumatoid (RA) psoriatic (PsA) knee joint synovitis (KJS). Local signs inflammation (tenderness, swelling, 'ballottement') range motion (ROM) were scored sum, taken as a global measure, recorded in 17 RA 18 PsA knees, both before at follow-up periods 2, 6, 12, 24 36 months after AS (knee synovectomy; meniscal curettage, cartilage shaving or chondrectomy, according...
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is an X-linked lysosomal storage disorder caused by the deficit of iduronate 2-sulfatase (IDS), enzyme involved in glycosaminoglycans (GAGs) degradation. We here report case a 9-year-old boy who was diagnosed with extremely severe form at 10 months age. Sequencing IDS gene revealed deletion exons 1–7, extending distally and removing entire pseudogene IDSP1. The difficulty to define boundaries particular severity patient phenotype...
<b><i>Introduction:</i></b> Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely variants in <i>TMC1</i> gene have been reported patients with autosomal recessive (HL) DFNB7/11. The prevailing auditory phenotype of individuals DFNB7/11 congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described literature variable. objective this...
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in ACTG1 gene has been associated with autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. encodes gamma actin, predominant actin protein cytoskeleton auditory hair cells; its normal expression and function are essential for stereocilia maintenance. Different gain-of-function have two major phenotypes: DFNA20/26 Baraitser-Winter syndrome, a...
Abstract Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there no ascertained evidence to date on how assemble single/combined categories developmental phenotypic findings improve array‐based detection rate. Methods The Italian Society Human Genetics coordinated a retrospective study which included CMA results 5,110 referred 17 genetics laboratories for variable combined Results Non‐polymorphic...
Abstract Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1 , SIX1 SIX5 genes cause almost half of cases; copy number (CNV) complex genomic rearrangements have been revealed about 20% patients, but they are not routinely commonly included the diagnostic work-up. Case presentation We report two unrelated patients with BOR clinical features, negative...