Publications by authors named "D J Goetz"
Glycogen synthase kinase-3 (GSK-3) plays a key role in several biochemical pathways and is an attractive target for pharmacological intervention. We prepared a series of analogs of a highly selective thiazolidinethione inhibitor of GSK-3. The structure-activity relationship indicated a precise structural requirement for potent inhibition.
View Article and Find Full Text PDFCharacterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.
J Cyst Fibros
November 2024
Article Synopsis
- - New York State added CFTR gene sequencing to Cystic Fibrosis newborn screening in December 2017 to minimize false positives, leading to a higher identification of infants with inconclusive diagnoses, known as CRMS/CFSPID.
- - An analysis of 375 screen-positive newborns from 2017 to 2020 revealed that 59.5% were classified as CRMS/CFSPID, with a majority carrying CF-related variants, but all sweat chloride test results remained below the threshold for diagnosis over 1-3 years.
- - The findings suggest the need for updated clinical guidelines to better manage and support infants with CRMS/CFSPID, as no infants converted to a definitive CF diagnosis during
Interdisciplinary teams care for people with cystic fibrosis (pwCF) at specialized treatment centers. These teams have laid the foundation for the cystic fibrosis (CF) care model responsible for gains in health outcomes and quality of life within the CF community. However, the landscape of CF care is transforming, invigorated by new technologies, accessibility of cystic fibrosis transmembrane conductance regulator (CFTR) therapies, and increased utilization of telemedicine.
View Article and Find Full Text PDFCystic fibrosis foundation position paper: Redefining the CF care model.
J Cyst Fibros
November 2024
Specialized care is provided to people with cystic fibrosis (pwCF) by interdisciplinary teams nested within the CF Foundation's accredited care center network. This network allows for standardization of the care model, implementation of clinical care guidelines, efficient communication, and outcomes reporting. Recent developments have impacted this care model.
View Article and Find Full Text PDFBackground: New York (NY) State implemented a new cystic fibrosis (CF) newborn screen (NBS) algorithm in December 2017 with improvement in positive predictive value and unanticipated increased identification of infants with cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS). Repeat sweat testing is recommended in infants with CRMS. During the COVID-19 pandemic infants with CRMS were lost to follow up.
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