Cases reported "cystic fibrosis"

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1/847. Pseudomonal pericarditis complicating cystic fibrosis.

    patients with advanced cystic fibrosis typically have chronic bacterial infection of the upper and lower respiratory tracts, but rarely develop extrapulmonary sites of infection. We report a case of purulent pericarditis due to pseudomonas aeruginosa in a patient with cystic fibrosis and no other risk factors for pericarditis. This is a previously unreported complication in cystic fibrosis prior to lung transplantation. ( info)

2/847. Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.

    We describe a general approach to derive fetal risk following two separate test results that each raise the likelihood of the same fetal abnormality without clearly determining whether the abnormality exists. echogenic bowel observed on fetal ultrasonography may have multiple causes, including an a priori risk of approximately 1% of cystic fibrosis (CF). On numerous occasions our laboratory tests have detected only normal cystic fibrosis transmembrane regulator (CFTR) alleles in fetuses with echogenic bowel. This result indicates that another cause most likely explains the abnormal ultrasound finding. One of our tested fetuses was heterozygous for the deltaF508 CFTR mutation and had a normal karyotype. Over 770 CFTR mutations have been described, and a significant proportion of parental mutant alleles could not be detected by our 25-mutation test. Further mutation analysis demonstrated that the fetus' mother carried the deltaF508 mutation but the father (of different ethnic background than the mother) did not carry a detectable mutation. Thus, this test result substantially increased the risk of the fetus having CF, while still not giving a definitive answer to whether the fetus was affected. A rigorous mathematical analysis determined that the 1% risk of CF following ultrasound study was increased to slightly under 12% following dna analysis. The case is described, and the mathematical formulas are explained and illustrated with examples, along with a review of conditional probability (appendix 2). ( info)

3/847. Fatal invasive aspergillosis in an adolescent with cystic fibrosis.

    We report on a 13-year-old girl with cystic fibrosis (CF) who developed refractory airflow obstruction despite high-dose steroids. She developed invasive aspergillosis and died despite oral and intravenous antifungal therapy. We speculate that the increasing use of immunosuppressive strategies and aggressive antipseudomonal therapy in CF may lead to an increase in aspergillus lung disease, including invasive aspergillosis in the future. ( info)

4/847. Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. Online.

    Here we describe the identification of an italian patient homozygote for the D579G mutation affected by a mild form of Cystic Fibrosis with pancreatic sufficiency, minor lung involvement and marked viscosity of the cervical mucous. The D579G mutation causes an A1868G transition, a substitution of an aspartic acid to a glycine residue, generating an important amino acid change (charged to hydrophobic) in the nucleotide-binding domain (NBD). The mutation was first described by Brancolini et al. (1995) on two pancreatic sufficient CF patients, compound heterozygotes for delta508F. patients were from Southern italy (Puglia) as the D579G homozygote one, who is a 30 years old woman from Taranto (Puglia), daughter of second cousins born in Bari (Puglia). The identification of a homozygote D579G patient might confirm that this mutation does correlate with pancreatic sufficiency and a mild pulmonary phenotype. ( info)

5/847. CF and me. interview by Anna Sidey.

    Home care and aggressive management for cystic fibrosis can help to ensure that this disorder fits in to a family's lifestyle and does not dictate it. This pattern of care requires high levels of autonomy, commitment and confidence in the nursing team, alongside a mutually trusting and supportive relationship between the child, the family and the care team. In this case this relationship was between Kelly and the care team. Kelly was initially reluctant to assume responsibility for her lifestyle and increasingly complex treatment and care but once empowered to do so, became a great enthusiast. This enthusiasm led her, in her early teens, to write the following account, which she asked me to publish for her. I knew Kelly for over 10 years, during which her nature demonstrated a complex mixture of compliance and contrariness in both her everyday life and her approach to her CF. Her death followed a rapid deterioration. This account reflects the quality of life she and her family achieved during one of the more fulfilling episodes in her short life. ( info)

6/847. Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis.

    In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial statuses. Our evaluation included sweat chloride, nasal transepithelial potential difference, and bronchoscopy with bronchoalveolar lavage measurements, all which were consistent with findings expected from an individual without CF. genotype analysis for the sequence polymorphism in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed the 7 thymidines and 9 thymidines alleles. We conclude that this patient probably expresses enough epithelial cell surface CFTR function such that she has a normal phenotype. Based on our evaluation, she does not meet the current diagnostic criteria for CF. Although genotype analysis can be an useful adjunct, it should not be the sole diagnostic criterion for CF. ( info)

7/847. Using temperament theory to individualize the psychosocial care of hospitalized children.

    temperament theory is offered as a framework for systematically individualizing the psychosocial care of hospitalized children. empirical research on temperament is cited. An application of the theory is illustrated through a presentation of three case studies of children who have cystic fibrosis as their primary diagnosis. The discussion of the children demonstrates how their psychosocial responses to hospitalization were related to their temperaments. The case studies also show how the hospital environment was adapted to meet the individual child's needs and also how children impact on their caretakers. ( info)

8/847. The VEP and ERG in a young infant with cystic fibrosis. A case report.

    We report a case of an infant with cystic fibrosis in whom VEP and scotopic ERG abnormalities were found. The underlying cause of these findings, which could not be determined within the limitations of this study, may be related to dietary deficiencies. ( info)

9/847. Retransplantation in a patient with cystic fibrosis.

    A patient with cystic fibrosis is described who requested a third lung transplant. The medical and ethical issues involved are discussed. ( info)

10/847. An unusual cause of rectal bleeding in a patient with cystic fibrosis.

    Here we identify a previously unreported cause of rectal bleeding (juvenile polyposis) in a patient with cystic fibrosis (CF). We believe this patient most likely has two coexisting genetic diseases. It also raises many issues about organ transplantation in a patient with medical conditions that individually increase the risk of gastrointestinal malignancy and stresses the diagnostic value of endoscopy in CF patients with rectal bleeding. ( info)
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