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Cystic fibrosis bone disease (CFBD) is a common long-term complication of cystic fibrosis (CF) that can lead to increased fractures and significant morbidity and mortality in this patient population. CFBD pathophysiology remains poorly understood and is likely to be multifactorial. There are limited studies evaluating diagnostic tools and tests to guide therapeutic decisions and monitoring of CFBD. This review will present and discuss the current evidence.
This article was published in the following journal.
Name: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Bone disease is a frequent complication in adolescents and adults with cystic fibrosis (CF). Early detection and monitoring of bone mineral density and multidisciplinary preventive care are necessary ...
The impact of cystic fibrosis (CF) on male reproductive health is profound. The vast majority of men with CF are infertile due to obstructive azoospermia. Multiple factors associated with CF contribut...
Cystic fibrosis (CF) is a multisystem genetic disease caused by dysfunction of the epithelial anionic channel Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Decreased mucociliary clearanc...
As a result of improvements in life expectancy and therapies, increasing numbers of patients with cystic fibrosis become pregnant. The first studies were pessimistic and report adverse outcomes on the...
Poor growth has long been a characteristic feature of cystic fibrosis (CF) and is significantly linked to lung function and overall health status. Improvements in pulmonary and nutrition care for pati...
The aim of the study is to find CF patients at risk for cystic fibrosis related liver disease (CFLD). Comparison of ultrasound by two modalities and biochemical markers with histological e...
The aim of the study is to look for risk factors of developing osteoporosis in patients with cystic fibrosis. Blood cells called monocytes will be obtained from a blood sample. These mono...
The main objective of this study is to show that there is a concordance between lung disease at 13 months and the existing 9 weeks in newborn babies with cystic fibrosis asymptomatically. ...
Cystic fibrosis is a genetic disease caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The purpose of the study is to investigate the effects of miglust...
Infants included in the study will be divided into two groups as healthy infants and cystic fibrosis infants . Demographic, natal and postnatal information of the infants will be available...
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.
Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
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