- Browse by Author
Browsing by Author "Brown, Cynthia"
Now showing 1 - 4 of 4
Results Per Page
Sort Options
Item High‐dose Cholecalciferol Supplementation in Adults with Cystic Fibrosis(Wiley, 2019-09) Janzen, Kristin M.; Sakon, Colleen; Lehman, Angela; Sommer, Bekah; Brown, Cynthia; Medicine, School of MedicineIntroduction Despite the availability of consensus guidelines for the treatment of vitamin D deficiency, prospective trials are lacking to examine alternative dosing strategies for adult patients with cystic fibrosis (CF) who do not meet therapeutic goals with standard regimens. Objectives The primary objective of this study was to determine the efficacy of high‐dose cholecalciferol supplementation in increasing serum vitamin D (25‐OHD) levels in adult patients with CF. Methods Patients were eligible for inclusion if they were 18 years or older, had baseline 25‐OHD levels lower than 30 ng/ml, and were diagnosed with CF and pancreatic insufficiency. Patients were given a single dose of cholecalciferol 300,000 or 500,000 IU based on baseline 25‐OHD levels. Response was defined by 25‐OHD and ionized calcium levels at 3 months. At 6 months, responders received a second dose of the same strength, and nonresponders were given a weekly supplement of cholecalciferol 50,000 IU in addition to cholecalciferol 500,000 IU. A second 25‐OHD level was obtained at 9 months. Results Of the 46 patients enrolled, 32 patients (70%) completed the study. Baseline levels of 25‐OHD significantly increased over time in the per protocol population at 3 and 9 months. A total of 16 patients (50%) were considered nonresponders and required weekly supplementation. Conclusion A protocol using high‐dose cholecalciferol or high‐dose plus weekly cholecalciferol is safe and effective in treating adult patients with CF and pancreatic insufficiency.Item Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor(MDPI, 2023-02-21) Patel, Payal; Yeley, Jana; Brown, Cynthia; Wesson, Melissa; Lesko, Barbara G.; Slaven, James E.; Chmiel, James F.; Jain, Raksha; Sanders, Don B.; Medicine, School of MedicineMost people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to the CF transmembrane conductance regulator (CFTR) modulator, elexacaftor–tezacaftor–ivacaftor (ETI), in utero. However, IRT values in infants born to mothers taking ETI have not been systematically assessed. We hypothesized that ETI-exposed infants have lower IRT values than newborns with CF, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID), or CF carriers. IRT values were collected from infants born in Indiana between 1 January 2020, and 2 June 2022, with ≥1 CFTR mutation. IRT values were compared to infants born to mothers with CF taking ETI followed at our institution. Compared to infants identified with CF (n = 51), CRMS/CFSPID (n = 21), and CF carriers (n = 489), ETI-exposed infants (n = 19) had lower IRT values (p < 0.001). Infants with normal NBS results for CF had similar median (interquartile range) IRT values, 22.5 (16.8, 30.6) ng/mL, as ETI-exposed infants, 18.9 (15.2, 26.5). IRT values from ETI-exposed infants were lower than for infants with abnormal NBS for CF. We recommend that NBS programs consider performing CFTR variant analysis for all ETI-exposed infants.Item Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis(SpringerNature, 2016-12-20) Celestino-Soper, Patricia B. S.; Simpson, Edward; Brink, Danika Tumbleson; Lynnes, Ty C.; Dlouhy, Stephen; Vatta, Matteo; Yeley, Jana; Brown, Cynthia; Bai, Shaochun; Department of Medical and Molecular Genetics, IU School of MedicineCystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that produce a defective protein from both alleles of the CFTR gene. Individuals with other variants may present with classic, non-classic, or milder forms of CF due to lower levels of functional CFTR protein. This article reports the genetic analysis of a female with features of asthma and mild or non-classic CF. CFTR sequencing demonstrated that she is a carrier for a maternally derived 5T/12TG variant. Deletion/duplication analysis by multiplex ligation-dependent probe amplification (MLPA) showed the presence of an intragenic paternally derived duplication involving exons 7-11 of the CFTR gene. This duplication is predicted to result in the production of a truncated CFTR protein lacking the terminal part of the nucleotide-binding domain 1 (NBD1) and thus is likely to be a non-functioning allele. The combination of this large intragenic duplication and 5T/12TG is the probable cause of the mild or non-classic CF features in this individual.Item Reframing Academic Productivity, Promotion and Tenure As a Result of the COVID-19 Pandemic(Magna, 2021-01-01) Sotto-Santiago, Sylk; Dilly, Christen K.; O'Leary, Heather A.; Craven, Hannah J.; Kara, Areeba; Brown, Cynthia; Kressel, Amy B.; Rohr-Kirchgraber, TheresaFaculty members have been impacted in a multitude of ways by the COVID-19 pandemic. In particular, faculty seeking promotion and tenure have been impacted by the disruption and inconsistent levels of productivity. In this article, we consider academic productivity in the context of clinical, research, education and service missions within higher education and the academic medicine professoriate. We offer a series of recommendations to faculty members, to institutions, and to professional societies in hopes we can challenge pre-existing deficits in promotion and tenure processes, and academic worth.