Cystic Fibrosis and Formes Frustes of CFTR-Related Disease

Respiration ◽  
2007 ◽  
Vol 74 (3) ◽  
pp. 241-251 ◽  
Author(s):  
Kevin W. Southern
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease

scholarly journals Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

2019 ◽  
Vol 18 (2) ◽  
pp. 265-270 ◽  
Author(s):  
Katherine Keenan ◽  
Annie Dupuis ◽  
Katherine Griffin ◽  
Carlo Castellani ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor‐related disease

2020 ◽  
Vol 62 (5) ◽  
pp. 629-633 ◽  
Author(s):  
Ayse Ayzit Kilinc ◽  
Gulizar Alishbayli ◽  
Hasan Emir Taner ◽  
Fugen Cullu Cokugras ◽  
Haluk Cokugras
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Transmembrane Conductance ◽  
Related Disease ◽  
Cystic Fibrosis Transmembrane

scholarly journals Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis

2012 ◽  
Vol 19 (1) ◽  
pp. 46-48 ◽  
Author(s):  
Jodi Goodwin ◽  
Naomi Spitale ◽  
Asma Yaghi ◽  
Myrna Dolovich ◽  
Parameswaran Nair
Keyword(s):  
Cystic Fibrosis ◽  
Therapeutic Option ◽  
Case Series ◽  
Gene Mutations ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Related Disease ◽  
Cystic Fibrosis Transmembrane

The present case series describes four patients with asthma, airway hyper-responsiveness and neutrophilic bronchitis who harboured abnormal cystic fibrosis transmembrance conductance regulator (CFTR) gene mutations. It serves both to alert clinicians to consider CFTR-related disease in both young and elderly patients with persistent neutrophilic bronchitis, and to highlight the potential utility of future genetic testing for CFTR abnormalities in patients with asthma and recurrent bronchitis or pansinusitis, and the role of nebulized hypertonic saline as a therapeutic option in these patients.

Pregnancy in cystic fibrosis of the pancreas

JAMA ◽  
1966 ◽  
Vol 195 (12) ◽  
pp. 993-1000 ◽  
Author(s):  
R. J. Grand
Keyword(s):  
Cystic Fibrosis

Freeze-Fracture Examination of Tight Junctions of Human Eccrine Sweat Glands

1980 ◽  
Vol 38 ◽  
pp. 634-635
Author(s):  
J. V. Briggman ◽  
J. Bigelow ◽  
H. Bank ◽  
S. S. Spicer
Keyword(s):  
Cystic Fibrosis ◽  
Freeze Fracture ◽  
Sweat Glands ◽  
Hypertonic Solution ◽  
Dark Cells ◽  
Clear Cells ◽  
Junctional Complexes ◽  
Secretory Coil ◽  
Eccrine Sweat Glands ◽  
Eccrine Sweat

The prevalence of strands shown by freeze-fracture in the zonula occludens of junctional complexes is thought to correspond closely with the transepi-thelial electrical resistance and with the tightness of the junction and its obstruction to paracellular flow.1 The complexity of the network of junc¬tional complex strands does not appear invariably related to the degree of tightness of the junction, however, as rabbit ileal junctions have a complex network of strands and are permeable to lanthanum. In human eccrine sweat glands the extent of paracellular relative to transcellular flow remains unknown, both for secretion of the isotonic precursor fluid by the coil and for resorption of a hypertonic solution by the duct. The studies reported here undertook, therefore, to determine with the freeze-fracture technique the complexity of the network of ridges in the junctional complexes between cells in the secretory coil and the sweat ducts. Glands from a patient with cystic fibrosis were also examined because an alteration in junctional strands could underlie the decreased Na+ resorption by sweat ducts in this disease. Freeze-fracture replicas were prepared by standard procedures on isolated coil and duct segments of human sweat glands. Junctional complexes between clear cells, between dark cells and between clear and dark cells on the main lumen, and between clear cells on intercellular canaliculi of the coil con¬tained abundant anastomosing closely spaced strands averaging 6.4 + 0.7 (mean + SE) and 9.0 +0.5 (Fig. 1) per complex, respectively. Thus, the junctions in the intercellular canaliculi of the coil appeared comparable in complexity to those of tight epithlia. Occasional junctions exhibited, in addition, 2 to 5 widely spaced anastomosing strands in a very close network basal to the compact network. The fewer junctional complexes observed thus far between the superficial duct cells consisted on the average of 6 strands arranged in a close network and 1 to 4 underlying strands that lay widely separated from one another (Fig. 2). The duct epitelium would, thus, be judged slightly more "leaky" than the coil. Infrequent junctional complexes observed to date in the secretory coil segment of a cystic fibrosis specimen disclosed rela¬tively few closely crowded strands.

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