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Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
BackgroundNewborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain...
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Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers
We aimed to evaluate cutoff values of immunoreactive trypsinogen (IRT)/IRT and determine relationship between IRT values and clinical characteristics...
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Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present
BackgroundCystic fibrosis (CF) is a life-threatening disease affecting about 1:3000 newborns in Caucasian populations. The introduction of newborn...
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Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war
Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is...
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Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
BackgroundTraditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive...
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Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature
BackgroundThis case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal...
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Integrated diagnostics
BackgroundIntegrated diagnostics is increasingly gaining scientific traction as it promises to address several challenges currently facing diagnostic...
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Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort
There is limited information available on the clinical data, sweat test trends, and outcomes of individuals with cystic fibrosis (CF) who present...
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Neurogastroenterology and Motility Disorders of the Gastrointestinal Tract in Cystic Fibrosis
Purpose of ReviewTo discuss all the various motility disorders impacting people with Cystic Fibrosis (PwCF) and provide diagnostic and management...
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The Intestinal Microbiome and Cystic Fibrosis Transmembrane Conductance Regulator Modulators: Emerging Themes in the Management of Gastrointestinal Manifestations of Cystic Fibrosis
Purpose of ReviewWhile commonly associated with pulmonary manifestations, cystic fibrosis (CF) is a systemic disease with wide-ranging effects on the...
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Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population
IntroductionIn highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis...
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Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot study
AimsRespiratory complications in Cystic Fibrosis (CF) are still the leading cause of death nowadays in these patients. High-Resolution Computed...
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Repeated Stimulation of Toll-Like Receptor 2 and Dectin-1 Induces Chronic Pancreatitis in Mice Through the Participation of Acquired Immunity
BackgroundStimulation of Toll-like receptor 3 (TLR3) induces autoimmune-mediated pancreatitis in susceptible mice, whereas stimulation of TLR4 causes...
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Study Designs: Diagnostic Studies
Diagnostic tests are evolving with betterment of technology, quest for patient safety with less invasive medicine, and evolution of new diseases. It...
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Elevated sweat chloride test: is it always cystic fibrosis?
BackgroundThe sweat chloride test (ST) is the gold standard for cystic fibrosis (CF) diagnosis in symptomatic patients, within the newborn screening...
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Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report
BackgroundCystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be...
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Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years’ experience in Lodz Voivodship
BackgroundCystic Fibrosis newborn screening (CFNBS) is the optimal method to diagnose the disease during the asymptomatic period. The aim of the...
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Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials
PurposeTo assess the costs and benefits of carrier screening and preimplantation genetic testing (PGT) for recessive autosomal monogenic disorders...
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Communicating cystic fibrosis newborn screening results to parents
The way results of cystic fibrosis (CF) newborn screening are communicated to parents is critical yet is done differently across the globe. We...
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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
BackgroundCystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane...