Pathophysiology of Cystic Fibrosis Implications for Critical Care Nurses
- Survey of CF mutations in the clinical laboratory. Huber, Klaus Roland; Mirkovic, Borka; Nersesian, Rhea; Myers, Angela; Saiki, Randall; Bauer, Kurt // BMC Clinical Pathology;2002, Vol. 2, p4
Background: Since it is impossible to sequence the complete CFTR gene routinely, clinical laboratories must rely on test systems that screen for a panel of the most frequent mutations causing disease in a high percentage of patients. Thus, in a cohort of 257 persons that were referred to our...
- Frequency of large CFTR gene rearrangements in Italian CF patients. Bombieri, Cristina; Bonizzato, Alberto; Castellani, Carlo; Assael, Baroukh M.; Pignatti, Pier Franco // European Journal of Human Genetics;May2005, Vol. 13 Issue 5, p687
In most populations, an appreciable fraction of cystic fibrosis transmembrane regulator (CFTR) gene mutations in patients affected by cystic fibrosis (CF) cannot be identified, and large gene rearrangements might be missed by standard analyses. We have searched large gene rearrangements in a...
- Few take up offer of gene screening. Miller, Susan Katz // New Scientist;9/18/93, Vol. 139 Issue 1891, p6
Reports on the lack of demand by patients and doctors for genetic screening for cystic fibrosis (CF). Issue of the test's use on the general public; Ethical Legal and Social Implications (ELSI) of the Human Genome Project of the United States; Doctors' attitudes toward CF screening and...
- Spoken presentations. // Journal of Medical Genetics;Sep2002 Supplement, Vol. 39, pS29
Discusses the abstract of the research paper entitled 'Cystic fibrosis--no longer an 'all or nothing' disease,' by Colin Wallis and presented during the British Human Genetics Conference at the University of York in England in September 2002.
- Genetic Causes of Male Infertility. // Fertility Weekly;10/25/2010, p4
The article presents a study by state researchers in Australia which relates that infertile men should undergo routine genetic testing prior to intracytoplasmic sperm injection (ICSI) in order to pinpoint microdeletions like cystic fibrosis transmembrane receptor mutations. It mentions that the...
- US urges routine genetic testing. Kleiner, Kurt // New Scientist;04/26/97, Vol. 154 Issue 2079, p12
Focuses on the recommendation of an expert panel from the US National Institutes of Health that all couples planning to have children should be offered a genetic test for cystic fibrosis. Incidence of cystic fibrosis among children in the United States; Symptomatology; Benefits of genetic...
- False security. Kleiner, Kurt // New Scientist;05/23/98, Vol. 158 Issue 2135, p14
Reports on indications that laboratories offering genetic tests for cystic fibrosis do not test for enough genetic mutations to give reliable results. Recommendations made by the United States' National Institutes of Health regarding the issue; The need for numerous possible mutations to be...
- CF gene tests backed for pregnant women. // Nature;4/24/1997, Vol. 386 Issue 6627, p752
Reports on the recommendations from an expert panel of the US National Institutes of Health that pregnant women should be offered genetic testing for mutations that cause cystic fibrosis. The insistence that health insurers should cover the costs of testing; The implications for recommendations.
- New Research Holds Hope for Rare Disorders. Price, Joyce Howard // World & I;Nov2004, Vol. 19 Issue 11, pN.PAG
Presents information on the prevalence of rare diseases in the U.S. as of November 1, 2004. Background on an animal research on Pompe disease; Importance of genetic testing in helping prevent genetic disorders; Incidence of cystic fibrosis in the country.