Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1350
Abstract: Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients’ preferences. We… read more here.
Keywords: patients return; genetic counseling; disclosure; secondary findings ... See more keywords
Takayasu arteritis: a cohort of Italian patients and recent pathogenetic and therapeutic advances
Sign Up to like & getrecommendations! Published in 2020 at "Clinical and Experimental Medicine"
DOI: 10.1007/s10238-020-00668-7
Abstract: Takayasu arteritis (TAK) is a rare granulomatous vasculitis of unknown etiology that mainly affects the aorta and its major branches. The aim is to describe the clinical features, diagnostic procedures, pathogenesis, and management of TAK… read more here.
Keywords: takayasu arteritis; patients recent; cohort italian; cohort ... See more keywords
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.144037
Abstract: COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role… read more here.
Keywords: coq2; system atrophy; multiple system; gene ... See more keywords
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Sign Up to like & getrecommendations! Published in 2019 at "Mitochondrion"
DOI: 10.1016/j.mito.2019.04.002
Abstract: Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and… read more here.
Keywords: congenital muscular; chkb gene; alteration mitochondrial; mutations chkb ... See more keywords
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.04.006
Abstract: DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients… read more here.
Keywords: patients psp; dctn1; analysis italian; mutation analysis ... See more keywords
Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0373-x
Abstract: Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient… read more here.
Keywords: genotype phenotype; phenotype correlation; imperfecta; osteogenesis imperfecta ... See more keywords
Suicide risk and suicide risk factors among immigrants in Italy: A bi-center matched sample study
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Social Psychiatry"
DOI: 10.1177/00207640211072425
Abstract: Italy has the third-largest immigrant population of European Union countries, but only a few research papers have examined suicide risk in immigrant psychiatric patients in Italy. The main aim of this paper was to compare… read more here.
Keywords: suicide; italian patients; suicide attempts; immigrant patients ... See more keywords
Psychological reaction to Covid-19 of Italian patients with IBD
Sign Up to like & getrecommendations! Published in 2021 at "BMC Psychology"
DOI: 10.1186/s40359-021-00622-6
Abstract: Background Patients with inflammatory bowel disease (IBD) may be particularly vulnerable to the effects of the novel coronavirus (Covid-19) on disease management and psychological status. This study explored psychological reactions to the Covid-19 emergency and… read more here.
Keywords: covid; disease management; patients ibd; psychological reaction ... See more keywords
Autoantibody Profile of a Cohort of 54 Italian Patients with Linear IgA Bullous Dermatosis: LAD-1 Denoted as a Major Auto-antigen of the Lamina Lucida Subtype.
Sign Up to like & getrecommendations! Published in 2020 at "Acta dermato-venereologica"
DOI: 10.2340/00015555-3415
Abstract: Linear IgA bullous dermatosis (LABD) is characterized by presence of multiple IgA autoantibodies, and a comparatively lesser number of IgG antibodies, directed against different hemidesmosomal antigens. The main autoantigens are LAD-1, LABD-97, BP180 and BP230,… read more here.
Keywords: iga bullous; lamina lucida; lucida subtype; bullous dermatosis ... See more keywords