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Cystic Fibrosis
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1. Restless leg syndrome manifested by iron deficiency from chronic hemoptysis in cystic fibrosis.
Match Strength: 11.308

Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease ... Read More »
» Published in J Cyst Fibros. 2006 Sep 15;

2. Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Match Strength: 11.110

PURPOSE: In the United States, approximately 1/3,700 babies is born with cystic fibrosis each year. The >1,300 documented sequence variants pose a challenge for detection of cystic fibrosis through genetic screening. To investigate whether comprehensive characterization of the cystic fibrosis gene is feasible using dried newborn blood specimens, we modified the whole blood Ambry Test: CF and determined its sensitivity by testing DNA from individuals with cystic fibrosis who still had unknown mutations after commercial mutation panel testing. METHODS: DNA from 42 archived newborn dried blood ... Read More »
» Published in Genet Med. 2006 Sep;8(9):557-62.

3. Nasal and paranasal sinus endoscopy, computed tomography and microbiology of upper airways and the correlations with genotype and severity of cystic fibrosis.
Match Strength: 10.491

OBJECTIVE: Many studies have assessed clinical and functional aspects of lower airway affections in cystic fibrosis. Conversely, few studies have been performed to assess the clinical and functional affections of upper airways. The objective of the present study was to correlate the variables obtained by nasal and paranasal sinuses endoscopy, paranasal sinus laboratory and computed tomography (CT) scan findings, and to check the association with severity and genotype of cystic fibrosis patients. METHODS: Clinical and laboratory study of 50 patients with cystic fibrosis at a university center. ... Read More »
» Published in Int J Pediatr Otorhinolaryngol. 2007 Jan;71(1):41-50. Epub 2006 Sep 27.

4. Cost of home and hospital care for patients with cystic fibrosis followed up in two reference medical centers in France.
Match Strength: 10.221

OBJECTIVES: In France, new guidelines for clinical practices concerning cystic fibrosis came out in 2002, underscoring the need for early and intensive management of this disease. Because no recent health economic studies on cystic fibrosis in France were available, we conducted a cost-analysis study before the new guidelines were put into practice, with a view to a later study on the medical and economic impact of these guidelines. METHODS: A cost-analysis study was performed of the inpatient and outpatient costs of patients with cystic fibrosis for the 2000-2001 period. The various direct ... Read More »
» Published in Int J Technol Assess Health Care. 2006 Fall;22(4):525-31.

5. Immediate changes in blood-gas tensions during chest physiotherapy with positive expiratory pressure and oscillating positive expiratory pressure in patients with cystic fibrosis.
Match Strength: 9.064

OBJECTIVE: To assess and compare immediate effects of chest physiotherapy with positive expiratory pressure (PEP) versus oscillating PEP on transcutaneously measured blood-gas tensions in patients with cystic fibrosis. METHODS: Fifteen patients (mean age 12.5 y, range 6.9-21.5 y) participated. The treatments were randomized and performed on 2 separate occasions, 8 weeks apart. Spirometry was conducted before and after each treatment. We transcutaneously measured oxygen tension (P(tO2). RESULTS: There were no changes in spirometry values. During PEP, different trends in blood-gas tension were ... Read More »
» Published in Respir Care. 2006 Oct;51(10):1154-61.

6. Early microbial colonization of cystic fibrosis patients identified by neonatal screening, with emphasis on Staphylococcus aureus.
Match Strength: 8.652

OBJECTIVES: To assess bacterial colonization prospectively in patients with cystic fibrosis identified by neonatal screening. To assess susceptibility to antimicrobials and to perform the molecular typing of Staphylococcus aureus strains isolated from the oropharynx of patients during the study. METHODS: Twenty-five cystic fibrosis patients receiving regular treatment at the Cystic Fibrosis Outpatient Clinic of Hospital de Clinicas of Universidade Federal do Parana, Brazil, were included in the study. All patients were identified by trypsin-like immunoreactivity and their diagnosis was ... Read More »
» Published in J Pediatr (Rio J). 2006 Sep-Oct;82(5):377-82. Epub 2006 Sep 19.

7. Safety of endobronchial biopsy in children with cystic fibrosis.
Match Strength: 7.760

There is little found in the published literature regarding the use of endobronchial biopsy (EBB) in children with cystic fibrosis (CF). One concern over the use of the technique may relate to safety, in particular increased risk of bleeding from a hypertrophied bronchial circulation. The aim of this retrospective study was to compare the safety of EBB in children with CF and those with other conditions, the most frequent of which included primary ciliary dyskinesia and recurrent lower respiratory tract infections. Case notes of all children undergoing EBB in our institution between February ... Read More »
» Published in Pediatr Pulmonol. 2006 Nov;41(11):1021-4.

8. Hospitalisation costs of cystic fibrosis.
Match Strength: 7.491

OBJECTIVE: To calculate per-case hospital costs for patients with cystic fibrosis under routine conditions from a healthcare provider's perspective; identify the impact of different cost categories; investigate whether cases with cystic fibrosis can be grouped into homogenous cost groups according to defined severity levels; and determine the value of specific factors as predictors of hospital cost variations. METHODS: All data were collected from cases (n = 131) admitted to an inpatient cystic fibrosis unit under routine conditions during a period of 6 months in 2004. All costs were ... Read More »
» Published in Pharmacoeconomics. 2006;24(10):999-1009.

9. Tracking of quantum dot-labeled CFTR shows near immobilization by C-terminal PDZ interactions.
Match Strength: 7.061

Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-regulated chloride channel, cause cystic fibrosis. To investigate interactions of CFTR in living cells, we measured the diffusion of quantum dot-labeled CFTR molecules by single particle tracking. In multiple cell lines, including airway epithelia, CFTR diffused little in the plasma membrane, generally not moving beyond 100-200 nm. However, CFTR became mobile over micrometer distances after 1) truncations of the carboxy terminus, which contains a C-terminal PDZ (PSD95/Dlg/ZO-1) binding motif; 2) blocking PDZ ... Read More »
» Published in Mol Biol Cell. 2006 Dec;17(12):4937-45. Epub 2006 Sep 20.

10. ENDOPLASMIC RETICULUM STRESS AND THE UNFOLDED PROTEIN RESPONSE REGULATE GENOMIC CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR EXPRESSION.
Match Strength: 6.521

The unfolded protein response (UPR) is a cellular recovery mechanism activated by endoplasmic reticulum (ER) stress. The UPR is coordinated with the ER-associated degradation (ERAD) to regulate the protein load at the ER. In the present study, we tested how membrane protein biogenesis is regulated through the UPR in epithelia, using the cystic fibrosis transmembrane conductance regulator (CFTR) as a model. Pharmacological methods such as proteasome inhibition, brefeldin A and tunicamycin were used to induce ER stress and activate the UPR as monitored by increased levels of spliced XBP1 and BiP ... Read More »
» Published in Am J Physiol Cell Physiol. 2006 Sep 20;

11. CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?
Match Strength: 6.201

OBJECTIVE: The implementation and evaluation of a proposed wide-scale prenatal screening strategy, based on DNA isolated from dried blood spots in the first trimester of pregnancy, for the early detection of pregnancies at risk for cystic fibrosis (CF). METHODS: The screening was performed in conjunction with routine biochemical marker screening for Down's syndrome risk in the first trimester of pregnancy. DNA was isolated from 1,233 dried blood spots and analyzed for the presence of the CF transmembrane regulator DeltaF508 mutation. Women carriers were offered and accepted the option for ... Read More »
» Published in Fetal Diagn Ther. 2007;22(1):41-4. Epub 2006 Sep 22.

12. Diffuse Cystic Disease of the Lung Associated with Simultaneous Bilateral Spontaneous Pneumothorax: An Unknown Component of Caroli Disease?
Match Strength: 6.022

Simultaneous bilateral spontaneous pneumothorax is an uncommon and serious medical problem frequently related to an underlying lung disease such as parenchymal lung disease, inflammatory events or neoplasms. Recurrent pneumothorax associated with persistent air leakage may pose a therapeutic dilemma in patients with underlying lung diseases. Caroli disease (CD) is a very rare congenital disorder characterised by intrahepatic biliary cystic dilatations and frequently associated with polycystic kidney and hepatic fibrosis. To date, no relation between CD and the bilateral diffuse cystic ... Read More »
» Published in Respiration. 2006 Sep 26;

13. Mucin overproduction in chronic inflammatory lung disease.
Match Strength: 5.909

Mucus overproduction and hypersecretion are commonly observed in chronic inflammatory lung disease. Mucins are gel-forming glycoproteins that can be stimulated by a variety of mediators. The present review addresses the mechanisms involved in the upregulation of secreted mucins. Mucin induction by neutrophil elastase, bacteria, cytokines, growth factors, smoke and cystic fibrosis transmembrane conductance regulator malfunction are also discussed. Publication Types: Research Support, Non-U.S. Gov't, ... Read More »
» Published in Can Respir J. 2006 Sep;13(6):327-35.

14. Inhibition of intrahepatic bile duct dilation of the polycystic kidney rat with a novel tyrosine kinase inhibitor gefitinib.
Match Strength: 5.323

The polycystic kidney (PCK) rat represents a liver and kidney cyst pathology corresponding to Caroli's disease with congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. We previously reported that an epidermal growth factor receptor tyrosine kinase inhibitor, gefitinib (Iressa), significantly inhibited the abnormal growth of biliary epithelial cells of PCK rats in vitro. This study investigated the effects of gefitinib on cyst pathogenesis of the PCK rat both in vitro and in vivo. A three-dimensional culture model of biliary epithelial cells in the collagen gel matrix ... Read More »
» Published in Am J Pathol. 2006 Oct;169(4):1238-50.

15. p97 functions as an auxiliary factor to facilitate TM domain extraction during CFTR ER-associated degradation.
Match Strength: 4.532

The AAA-ATPase (ATPase associated with various cellular activities) p97 has been implicated in the degradation of misfolded and unassembled proteins in the endoplasmic reticulum (ERAD). To better understand its role in this process, we used a reconstituted cell-free system to define the precise contribution of p97 in degrading immature forms of the polytopic, multi-domain protein CFTR (cystic fibrosis transmembrane conductance regulator). Although p97 augmented both the rate and the extent of CFTR degradation, it was not obligatorily required for ERAD. Only a 50% decrease in degradation was ... Read More »
» Published in EMBO J. 2006 Oct 4;25(19):4557-66. Epub 2006 Sep 14.

16. Enhanced membrane disruption and antibiotic action against pathogenic bacteria by designed histidine-rich peptides at acidic pH.
Match Strength: 4.306

The histidine-rich amphipathic cationic peptide LAH4 has antibiotic and DNA delivery capabilities. Here, we explore the interaction of peptides from this family with model membranes as monitored by solid-state (2)H nuclear magnetic resonance and their antibiotic activities against a range of bacteria. At neutral pH, the membrane disruption is weak, but at acidic pH, the peptides strongly disturb the anionic lipid component of bacterial membranes and cause bacterial lysis. The peptides are effective antibiotics at both pH 7.2 and pH 5.5, although the antibacterial activity is strongly affected ... Read More »
» Published in Antimicrob Agents Chemother. 2006 Oct;50(10):3305-11.

17. Detection of DeltaF508del using quantitative real-time PCR, comparison of the results obtained by fluorescent PCR.
Match Strength: 4.094

OBJECTIVE: Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del. METHODS: One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. ... Read More »
» Published in Fetal Diagn Ther. 2007;22(1):63-7. Epub 2006 Sep 22.

18. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Match Strength: 4.088

OBJECTIVES: Chronic pancreatitis is a progressive inflammatory disorder leading to irreversible exocrine and/or endocrine impairment. It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) and the serine protease inhibitor Kazal type 1 (SPINK1) genes are also associated with pancreatitis. METHODS: We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information ... Read More »
» Published in Pancreas. 2006 Oct;33(3):221-7.

19. The use of complementary and alternative medicine in children with chronic medical conditions.
Match Strength: 4.025

OBJECTIVES: The objectives of this study were to examine whether progressive medical conditions lead to greater use of complementary and alternative medicine (CAM) as compared with more stable conditions, to see whether disease severity influences CAM use, and to identify the main motivations behind CAM use. METHODS: Subjects were selected from outpatient clinics at Hotel Dieu Hospital. Surveys were conducted by mail and telephone. Medical diagnosis and severity were obtained from medical files. Statistical tests included chi, Kruskal-Wallis, and correlations. RESULTS: One hundred ninety-four ... Read More »
» Published in Am J Phys Med Rehabil. 2006 Oct;85(10):842-6.

20. Analysis of Pseudomonas aeruginosa conditional psl variants reveals roles for the psl polysaccharide in adhesion and maintaining biofilm structure postattachment.
Match Strength: 3.836

The ability to form biofilms in the airways of people suffering from cystic fibrosis is a critical element of Pseudomonas aeruginosa pathogenesis. The 15-gene psl operon encodes a putative polysaccharide that plays an important role in biofilm initiation in nonmucoid P. aeruginosa strains. Biofilm initiation by a P. aeruginosa PAO1 strain with disruption of pslA and pslB (DeltapslAB) was severely compromised, indicating that psl has a role in cell-surface interactions. In this study, we investigated the adherence properties of this DeltapslAB mutant using biotic surfaces (epithelial cells and ... Read More »
» Published in J Bacteriol. 2006 Dec;188(23):8213-21. Epub 2006 Sep 15.

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