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I wanted to help others, especially children because they are the future of the world. As an intern, I saw patients affected by cystic fibrosis who touched my heart, and knew I wanted to become a pediatric pulmonologist.
I have two children of my own, but I feel like I have thousands of children. I get to see my patients from the time they are very young all the way into adulthood, experiencing each stage of childhood development alongside the family. My ultimate goal is to teach each child about their illness and how to deal with the medical system so that as they grow, they learn to be responsible for their own care.
It is a privilege to meet a new family, learn about their concerns, and figure out how I can help make things better. I want every family to know I'm going to work with them. I strive to make personal connections with each and every child I see. Whether they are 3 or 13 or 19, I want each child to know I am their doctor.
University of Toledo College of Medicine and Life Sciences Registrar, Toledo, OH, 6/1/79
University of Toledo College of Medicine and Life Sciences Registrar, Toledo, OH, 6/30/1980
Children's Hospital of Oakland, Oakland, CA, 6/30/1983
St Christophers Hospital Pediatric Pulmonology, Philadelphia, PA, 6/30/1986
Pediatric Pulmonology, American Board of Pediatrics
Pediatrics, American Board of Pediatrics
View details for Web of Science ID 000342926000557
California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are systematically followed, allowing for prospective assessment of the pathogenic potential of these variants. During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered infive screen-negative participants and three were identified in multiple unrelated participants. Ten novelvariants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date. Associations with the remaining novel variants were confounded by the presence of other diseases or other mutations in cis or by inadequate follow-up. These findings have implications for how CF newborn screening and follow-up is conducted and will help guide which genotypes should, and which should not, be considered screen positive for CF in California and elsewhere.
View details for DOI 10.1016/j.jmoldx.2013.05.006
View details for Web of Science ID 000323870900019
View details for PubMedID 23810505
Denufosol stimulates chloride secretion independent of the chloride channel which is dysfunctional in cystic fibrosis (CF) and therefore has the potential to benefit CF patients regardless of genotype.To assess the efficacy of denufosol in CF patients with mild lung function impairment age 5 years and older.This multicenter, randomized, parallel group double-blind placebo-controlled trial was conducted at 102 CF care centers in Australia, Canada and the United States (NCT00625612) The active group (n=233) received 60 mg denufosol via inhalation three times daily The primary efficacy endpoint was change in FEV(1) in liters from Day 0 to week 48.685 patients were screened for the study and 466 patients (233 in each group) were randomized to study treatment. The adjusted mean change in FEV(1)was 40 mL for denufosol and 32 mL for placebo with a resulting treatment effect of 8 mL (95% CI -0.040, 0.056). The average rate of change in FEV(1) percent of predicted over 0 to 48 weeks was -3.04% for placebo vs. -2.30 for denufosol (a difference of 24% relative to placebo) among all patients. The incidence of pulmonary exacerbation was 26% vs. 21% for the placebo and denufosol groups with no differences in the time to first event. The study treatments were well tolerated and there was no evidence of systemic effects in any safety parameter assessed.In patients with CF treatment with denufosol for 48 weeks did not improve pulmonary function or reduce the incidence of pulmonary exacerbations.
View details for DOI 10.1016/j.jcf.2012.05.003
View details for Web of Science ID 000312115900009
View details for PubMedID 22682898
Intervention for cystic fibrosis lung disease early in its course has the potential to delay or prevent progressive changes that lead to irreversible airflow obstruction. Denufosol is a novel ion channel regulator designed to correct the ion transport defect and increase the overall mucociliary clearance in cystic fibrosis lung disease by increasing chloride secretion, inhibiting sodium absorption, and increasing ciliary beat frequency in the airway epithelium independently of cystic fibrosis transmembrane conductance regulator genotype.To evaluate the efficacy and safety of denufosol in patients with cystic fibrosis who had normal to mildly impaired lung function characteristic of early cystic fibrosis.A total of 352 patients greater than or equal to 5 years old with cystic fibrosis who had FEV(1) greater than or equal to 75% of predicted normal were randomized to receive inhaled denufosol, 60 mg, or placebo three times daily in a Phase 3, randomized, double-blind, placebo-controlled, 24-week trial.Main outcome measures included change in FEV(1) from baseline to Week 24 endpoint and adverse events. Mean change from baseline to Week 24 endpoint in FEV(1) (primary efficacy endpoint) was 0.048 L for denufosol (n = 178) and 0.003 L for placebo (n = 174; P = 0.047). No significant differences between groups were observed for secondary endpoints including exacerbation rate and other measures of lung function. Denufosol was well tolerated with adverse event and growth profiles similar to placebo.Denufosol improved lung function relative to placebo in cystic fibrosis patients with normal to mildly impaired lung function. Clinical trial registered with www.clinicaltrials.gov (NCT00357279).
View details for DOI 10.1164/rccm.201008-1267OC
View details for Web of Science ID 000288296000015
View details for PubMedID 21169471
View details for Web of Science ID 000296071800516
View details for Web of Science ID 000075766800001
View details for Web of Science ID A1987K855700409