The PROSIT Cohort of Infliximab Biosimilar in IBD: A Prolonged Follow-up on the Effectiveness and Safety Across Italy.

Background: We report a prospective, nationwide cohort evaluating the safety and effectiveness of CT-P13.

Methods: A structured database was used to record serious adverse events (SAEs), clinical remission/response, inflammatory biomarkers (CRP and calprotectin), and endoscopic findings.

Results: Eight hundred ten patients with inflammatory bowel disease (IBD) (452 Crohn's disease [CD]) were enrolled.

Acute cerebellitis in children: an eleven year retrospective multicentric study in Italy.

Background: Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: the aim of the study is both to assess clinical, neuroimaging and electrophysiologic features of children with AC/ACA and to evaluate the correlation between clinical parameters, therapy and outcome.

The PROSIT-BIO Cohort: A Prospective Observational Study of Patients with Inflammatory Bowel Disease Treated with Infliximab Biosimilar.

Background: Few data are available on the safety and efficacy of infliximab biosimilar CT-P13 in patients with ulcerative colitis and Crohn's disease.

Methods: A prospective, multicenter, cohort study using a structured database.

Results: Consecutive patients (313 Crohn's disease and 234 ulcerative colitis) were enrolled from 31 referral centers; 311 patients were naive to anti-tumor necrosis factor alpha, 139 had a previous exposure to biologics, and the remaining 97 were switched to CT-P13 after a mean of 18 ± 14 infusions of infliximab.

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Background: Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases.

Use of biosimilars in inflammatory bowel disease: Statements of the Italian Group for Inflammatory Bowel Disease.

The introduction of biological therapies, particularly anti-TNFα agents, has revolutionized the management of inflammatory bowel disease in those cases which are refractory to conventional treatment; however these drugs are not risk-free and their use has substantially increased the cost of treatment. As marketing protection expires for original, first-generation biopharmaceuticals, lower-cost "copies" of these drugs produced by competitor companies-referred to as biosimilars-are already entering the market. In September 2013, the European Medicines Agency approved two infliximab biosimilars for treatment of adult and paediatric inflammatory bowel disease patients, a decision based largely on efficacy and safety data generated in studies of patients with ankylosing spondylitis and rheumatoid arthritis.

Combined test for UGT1A1 -3279T-->G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients.

Gilbert's syndrome is a common hereditary chronic or recurrent, mild unconjugated hyperbilirubinemia. Polymorphisms in the bilirubin uridine diphosphate glucuronosyl transferase gene (UGT1A1) causing a decreased enzyme activity are associated with susceptibility to the syndrome. Homozygosity for TA(7) allele of the A(TA)(n)TAA promoter polymorphism is found in the majority of Caucasian patients.

Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.

Background: Inflammatory bowel disease (IBD) has been associated with several polymorphisms in genes likely involved in innate immune responses and integrity of epithelial mucosal barrier. A major role in adult Crohn's disease (CD) has been defined for 3 polymorphisms in the CARD15 gene, whereas variants in the SLC22A4, SLC22A5, and DLG5 genes could have a minor contribution to IBD susceptibility.

Methods: We analyzed a panel of 6 polymorphisms within these genes in 227 Italian early-onset IBD patients (134 CD, 93 ulcerative colitis [UC]; age at diagnosis View Article and Find Full Text PDF

Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.

Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6-year-old patient.

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Purpose: Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian patients, 80 keratoconus-affected subjects were screened for mutations.

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.

Interstitial "de novo" tandem duplication of 7(q31.1-q35): first reported case.

A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation.

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes.

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

Goldenhar complex: a further case with uncommon associated anomalies.

We report on a further case of Goldenhar complex with uncommon and clinically remarkable associated anomalies. This additional case increases the number of observations and descriptions of patients with "expanded Goldenhar complex." Pathogenetic aspects are discussed.

Spatial-temporal interactions in the steady-state pattern electroretinogram.

It is currently assumed that steady-state pattern electroretinograms can be obtained only at high rates of pattern reversal. However, steady-state responses can also be obtained at very low temporal frequencies (less than 1 Hz), provided that the reversal is sinusoidal. In five healthy volunteers, we studied the frequency characteristics of the pattern-reversal electroretinogram in response to sinusoidal gratings of 0.