PubMed Health⌕ Search

Biomedical subjects

Patrick Flume

Publications and source records attributed to Patrick Flume.

6 recordsLinked to original sources
PubMed2006

Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.

A 28-year-old Caucasian female with no personal or family history of cystic fibrosis (CF) presented for preconception counseling and screening. Cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis using the Inno-LiPa CFTR assay revealed lack of hybridization for both the wild-type and mutant oligonucleotides for 3120+1G>A. This region was sequenced, and an apparent homozygous 3120G>A mutation was detected. Additional testing revealed an abnormal sweat chloride (77 mmol/L). Review of systems was essentially unremarkable with an absence of sinus symptoms, occasional nonproductive cough, and no features of malabsorption. Physical examination, chest X-ray, and pulmonary function tests were within normal limits. Only two other patients (siblings) with homozygous 3120G>A mutations have been reported (http://www.genet.sickkids.on.ca/cftr/). Both siblings had pancreatic insufficiency, mild pulmonary symptoms, and abnormal sweat chloride levels. Our findings suggest that a homozygous mutation of a G>A conversion at 3120 is associated with abnormal CFTR function and either a mild form of CF or no overt symptoms of disease, emphasizing the difficulties in assigning genotype/phenotype correlation.

Adult↗
PubMed2005

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Cystic fibrosis (CF) is an autosomal recessive disorder of Cl(-) and Na(+) transport. The vast majority of CF patients have deleterious mutations in an epithelial Cl(-) channel called the CF transmembrane conductance regulator (CFTR). In contrast, defects in the epithelial Na(+) channel (SCNN1) have been associated with phenotypes dominated by renal disease (systemic pseudohypoaldosteronism type I and Liddle syndrome). We report two non-classic CF patients without CFTR mutations who have novel deleterious mutations in the beta-subunits of SCNN1 in the absence of overt renal disease.

Adult↗
PubMed2003

Wegener's granulomatosis in patients with rheumatoid arthritis.

OBJECTIVE: To describe 2 cases of coexisting rheumatoid arthritis (RA) and Wegener's granulomatosis (WG), and to summarize the clinical and serological data for all 6 patients reported in the English literature since 1966. METHODS: Medline review over a 35-year period (1966-2002) revealed 4 reported cases of RA associated with WG. Patients were diagnosed based on symptoms, radiographic changes, bronchoalveolar lavage fluid analysis, hematuria, serology, and biopsy. We describe 2 additional cases of WG developing in Caucasian women with RA. These are the first reported patients to possess positive antineutrophil cytoplasmic antibodies (ANCA) and autoantibodies to proteinase 3 (PR3). RESULTS: All 6 cases of coexisting RA and WG were female. The diagnosis of RA preceded WG diagnosis in all cases; mean age at RA onset was 43.7 +/- 15.0 years, duration of RA prior to WG diagnosis 7.9 +/- 9.1 years. Clinical findings included erosive articular disease on radiographs (n = 4; 67%), positive rheumatoid factor (n = 6; 100%), upper respiratory involvement (n = 5; 83%), lower respiratory signs (n = 4; 67%), renal involvement (n = 2; 33%), and positive ANCA (n = 2/3; 67%). Five patients were treated with corticosteroids and cyclophosphamide, with clinical improvement. CONCLUSION: Although rare, WG may develop in patients with preexisting RA and may present with end-organ involvement.

Adrenal Cortex Hormones↗
PubMed2002

The rationale for aerosolized antibiotics.

In order for an antimicrobial agent to be effective, it must fulfill two requirements. First, the agent must reach the site of infection and remain in the vicinity for an adequate length of time. Second, it must bind to a target site and remain bound for a length of time sufficient to disrupt the life cycle of the cell. Once these requirements are met, the drug is able to exert its antimicrobial activity against the cell. In an effort to better understand and predict the killing activity of antibiotics, we have attempted to develop parameters that describe the accumulation and diffusion of drug to and from body sites (pharmacokinetics) and quantify how much of a compound is needed at the site of infection to yield the desired effect (minimum inhibitory concentration). Furthermore, integration of these parameters allows us to evaluate host, drug, and microbial factors and formulate criteria to assess and predict drug activity in patients (pharmacodynamics). Knowledge and application of pharmacodynamic principles can assist clinicians in optimizing antimicrobial therapy by allowing them to maximize the antimicrobial activity of an agent while minimizing patient exposure and thus reducing the likelihood of toxicity.

Administration, Inhalation↗