The importance of functional tests to assess the effect of a new variant when genotype-phenotype correlation is not possible.

In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns.

24-month clinical outcomes of a treat-and-extend regimen with ranibizumab for wet age-related macular degeneration in a real life setting.

Background: To evaluate the clinical effectiveness and analyze the outcomes of a treat-and-extend (T&E) treatment regimen with ranibizumab for wet age-related macular degeneration (ARMD) in real life clinical settings over the first 2 years (24 months) of treatment.

Methods: Retrospective analysis of visual acuity, spectral domain optical coherence tomography (SD-OCT) parameters and treatment burden data of 56 eyes of 54 unselected treatment naive patients diagnosed with exudative ARMD. Monthly injections were offered until no signs of disease activity such as intra-retinal (IRF) or sub-retinal fluid (SRF) were evident on SD-OCT, followed by a gradual extension of the treatment interval by 2 weeks until a maximum of 12 weeks.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Background: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.

Methods: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we collected data from 104 subjects heterozygous for the mutation p.

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Rationale: The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in association with a sweat chloride (Cl(-)) concentration greater than 60 mmol/L or the identification of two CF-causing mutations. A challenging problem is the significant number of children for whom no definitive diagnosis is possible because they present with symptoms suggestive of CF, a sweat chloride level in the intermediate range between 30 and 60 mmol/L, and only one or no identified CF-causing mutation.

Objectives: To investigate the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the airways of children with intermediate sweat tests and inconclusive genetic findings in correlation with clinical phenotype and genotype.