A5063428963- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Child Nutrition and Feeding Issues
- Infant Development and Preterm Care
- Pediatric health and respiratory diseases
- Pneumonia and Respiratory Infections
- Inhalation and Respiratory Drug Delivery
- Congenital Ear and Nasal Anomalies
- Infant Nutrition and Health
- Asthma and respiratory diseases
- Respiratory viral infections research
- Child Nutrition and Water Access
- Family and Disability Support Research
- Atomic and Subatomic Physics Research
- Neuroscience of respiration and sleep
- Adolescent and Pediatric Healthcare
- Systemic Lupus Erythematosus Research
- Bone Tumor Diagnosis and Treatments
- Antibiotic Resistance in Bacteria
- Vascular Tumors and Angiosarcomas
- Land Rights and Reforms
- Sarcoma Diagnosis and Treatment
- Medical Imaging and Pathology Studies
- Genomics and Rare Diseases
University of Wisconsin–Madison
2015-2025
Graz University of Technology
2024
KU Leuven
2024
UW Health University Hospital
2001-2023
Birmingham Children's Hospital
2019
RELX Group (Netherlands)
2017
Case Western Reserve University
2015
University School
2015
University of Michigan–Ann Arbor
2014
Universitair Ziekenhuis Leuven
2011
Despite its relative frequency among autosomal recessive diseases and the availability of sweat test, cystic fibrosis (CF) has been difficult to diagnose in early childhood, delays can lead severe malnutrition, lung disease, or even death. The Wisconsin CF Neonatal Screening Project was designed as a randomized clinical trial assess benefits risks diagnosis through screening. In addition, incidence determined, validity our randomization method assessed by comparing 16 demographic variables.
ObjectiveCystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of genetics have prompted a reconsideration diagnosis criteria.Study designTo improve achieve standardized definitions worldwide, Foundation convened committee 32 experts from 9 countries develop clear actionable consensus guidelines on clarify criteria terminology for other disorders...
As part of the ongoing Wisconsin Cystic Fibrosis (CF) Neonatal Screening Project, we had unique opportunity to study longitudinal relationship between Pseudomonas aeruginosa (Pa) acquisition and infection developing lung disease in children with CF. The primary objective was determine whether Pa associated a measurable change progression disease. Two outcome measures were used 56 patients who diagnosed through newborn screening: 1) additive chest radiograph score (WCXR), based on average...
Patients with cystic fibrosis (CF) are susceptible to lower respiratory tract infections Pseudomonas aeruginosa and typically acquire this organism in early childhood. Once P infection is established, eradication may be impossible, progressive lung disease often aggravates morbidity mortality risks. The ability diagnose CF by genetic testing at birth makes it possible determine the temporal sequence of events that result aeruginosa-associated pulmonary infections.To evaluate longitudinal...
Patients who have cystic fibrosis (CF) and experience delayed diagnosis by traditional methods greater nutritional insult compared with peers diagnosed via neonatal screening. The objective of this study was to evaluate cognitive function in children CF the influence both early through screening potential effect malnutrition.
Background. The psychosocial effects on parents of infants with abnormal results in cystic fibrosis (CF) newborn screening (NBS) that uses genetic testing remain unclear. Methods. Twenty-eight individuals representing 14 families participated grounded theory interviews ∼6 months after their child’s positive NBS for CF. Participants also completed the Center Epidemiologic Studies Depression Scales (CES-D) at infant’s sweat-test appointment (n = 51) and/or sweat test 35). Results. Most...
Although early diagnosis of cystic fibrosis (CF) can lead to nutritional benefits, there has been uncertainty about pulmonary outcomes. Using a randomized controlled trial with unique unblinding/surveillance, we evaluated patients CF who received similar treatment after being assigned an (screened) group or standard (control) group. When the youngest patient was 7 years age, compared outcomes using function data and quantitative chest radiology. In screened (56 patients), made at younger age...
Mutations of the TP53 gene have been associated with resistance to chemotherapy as well poor prognosis in many different malignancies. This is first prospective study prognostic value somatic mutations patients newly diagnosed extremity osteosarcoma.One hundred ninety-six high-grade, nonmetastatic osteosarcoma extremities were enrolled from seven tertiary care institutions and observed prospectively for tumor recurrence (median follow-up duration, 44 months). All received neoadjuvant or...
Objective. This study was pursued as an extension of a randomized clinical investigation neonatal screening for cystic fibrosis (CF). The project included assessment respiratory secretion cultures pathogens associated with CF. objective to determine whether patients diagnosed through and treated in early infancy were more likely become colonized Pseudomonas aeruginosa compared those identified by standard diagnostic methods. Methodology. design involved prospective secretions obtained...
Detection of elevated levels immunoreactive trypsinogen (IRT) in dried neonatal blood spots has been used as a screening test for cystic fibrosis. In other fibrosis newborn-screening studies, sweat chloride is generally performed only if an infant persistent IRT level above selected cutoff value on both the initial and subsequent specimens. Neither timing second specimen nor point comprehensively evaluated. this randomized, controlled study, 145 024 infants were screened period using 99.8...
The first report of computed tomography (CT) scanning to monitor cystic fibrosis (CF)-related lung disease was published in 1986. Further publications followed, but general there little interest this technique until recently. Two factors particular have led increased interest. First is an increasing realization that pulmonary function tests, long the mainstay CF evaluation, often underestimate presence and severity mild moderate disease. Second need for more sensitive outcome measures assess...
The objective of this study was to identify risk factors significance for acquisition Pseudomonas aeruginosa by children with cystic fibrosis (CF). Our working hypothesis is that exposure infants and young CF older, infected patients increases their acquiring organism. A special opportunity arose question in detail, as we have been performing a randomized clinical trial neonatal screening throughout the state Wisconsin during period 1985–1994. Patients were selected based on either early...
We treated two pediatric patients suffering respiratory failure associated with status asthmaticus. Neither patient responded to maximal bronchodilatory therapy and mechanical ventilation; however, continuous infusion of ketamine (1.0 2.5 mg/kg-h) immediately improved airway obstruction. Ketamine appears increase catecholamine levels directly relax bronchial smooth muscle. Except for increased secretions during the infusion, our showed no immediate or long-term sequelae from therapy....
To ensure that each newborn receives an equitable test of the highest possible sensitivity, we recognized necessity to reassess immunoreactive trypsinogen and DNA issues in cystic fibrosis screening algorithms. Our objectives included clarification various factors influence concentrations resolution long-standing questions about variations levels among newborns.Immunoreactive data on 660443 newborns who were born between July 1, 1994, June 30, 2004, abstracted from Wisconsin State Laboratory...
Rationale: Previous studies of risk factors for progression lung disease in cystic fibrosis (CF) have suffered from limitations that preclude a comprehensive understanding the determinants CF throughout childhood. The epidemiologic component 27-year Wisconsin Randomized Clinical Trial Neonatal Screening Project (WI RCT) afforded us unique opportunity to evaluate significance potential intrinsic and extrinsic children with CF.Objectives: Describe most important CF.Methods: Variables...
Systemic antibiotics can impact all microbes inhabiting patients, regardless of the intended target organism(s). We studied simultaneous effects on respiratory and fecal microbiomes β-lactam administered for symptoms in infants with cystic fibrosis (IWCF). To compare magnitude duration (respiratory) unintended (fecal) antimicrobial action by analyzing oropharyngeal (OP) microbiota IWCF. Shotgun metagenomic sequencing qPCR were performed OP samples collected longitudinally from 14 IWCF (ages...
ABSTRACT Background Genetic modifiers have been identified that increase the risks of lung disease and other complications, such as diabetes in people with cystic fibrosis (CF). Variants hemochromatosis gene ( HFE ) were reported a study adults to be associated worse disease. Objectives To ascertain frequency variants, particularly C282Y (c.845G > A) H63D (c.187C G) determine if they are variations onset early severity CF well abnormalities iron status. Design We studied whole genome...
Children with cystic fibrosis (CF) develop bronchopulmonary disease at variable ages. Determining the epidemiology of chronic lung and quantifying its severity, however, have been difficult in infants young children. As part Wisconsin CF Neonatal Screening Project, we were presented an ideal opportunity to assess longitudinally evolution symptoms, signs, quantitative measures respiratory disease. After newborn screening test results led early recognition, 64 patients diagnosed a median age...