نتایج جستجو برای: cystic fibrosis
تعداد نتایج: 131260 فیلتر نتایج به سال:
AMA Siczek A, Kobos E. Life quality of adult patients with cystic fibrosis. Nursing Problems / Problemy Pielęgniarstwa. 2023;31(1):29-36. doi:10.5114/ppiel.2023.129136. APA Siczek, A., & Kobos, (2023). Pielęgniarstwa, 31(1), 29-36. https://doi.org/10.5114/ppiel.2023.129136 Chicago Aleksandra, and Ewa Kobos. 2023. "Life fibrosis". Pielęgniarstwa 31 (1): Harvard pp.29-36. MLA Aleksandra et al. fi...
The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasia...
The hallmark for the laboratory diagnosis of cystic fibrosis is an increased sodium and chloride concentration in the exocrine secretory fluid, sweat. This abnormality is an early and invariable consequence of the cystic fibro sis gene in homozygous, affected individuals but is not a suitable diagnostic marker for detection of the heterozygote. In the past five years, laboratory investigations...
PURPOSE OF REVIEW To review the contribution of various therapeutic interventions on both longevity and quality of life in cystic fibrosis patients. RECENT FINDINGS Long-term survival in cystic fibrosis has increased markedly in the past 25 years, largely due to a robust clinical trials program carried out at Cystic Fibrosis Foundation accredited clinical centers in the United States and simi...
Early detection of cystic fibrosis lung disease: multiple-breath washout versus raised volume tests.
BACKGROUND Lung clearance index (LCI), a measure of ventilation inhomogeneity derived from the multiple-breath inert gas washout (MBW) technique, has been shown to detect abnormal lung function more readily than spirometry in preschool children with cystic fibrosis, but whether this holds true during infancy is unknown. OBJECTIVES To compare the extent to which parameters derived from the MBW...
OBJECTIVE High genistein doses have been reported to induce fluid accumulation in the uteri of ovariectomised rats, although the mechanism underlying this effect remains unknown. Because genistein binds to the oestrogen receptor and the cystic fibrosis transmembrane regulator mediates uterine fluid secretion, we hypothesised that this genistein effect involves both the oestrogen receptor and cy...
BACKGROUND/AIMS Cystic fibrosis is the most common inherited lethal disease, which could be frequently identified late in regions without newborn screening. There are dramatically better outcomes in the early diagnosis of cystic fibrosis patients. This study aimed to evaluate the spectrum of manifestations of cystic fibrosis at first admission leading to diagnosis. MATERIALS AND METHODS This ...
Sphingolipids and in particular ceramide have been shown to be critically involved in the response to many receptor-mediated, but also receptor-independent, mainly stress stimuli. Recent studies demonstrate that ceramide plays an important role in the pathogenesis of cystic fibrosis, a hereditary metabolic disorder caused by mutations of the Cystic Fibrosis Transmembrane Conductance Regulator. ...
BACKGROUND Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associa...
Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades. The cystic fibrosis transmembrane conductance regulator gene was identified in 1989. It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined,...
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