scholarly journals Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent.

1997 ◽  
Vol 8 (2) ◽  
pp. 352-355
Author(s):  
C M Bates ◽  
M Baum ◽  
R Quigley
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Extracellular Fluid ◽  
Multiple Organ ◽  
Healthy Adolescent ◽  
Volume Contraction ◽  
Warm Weather ◽  
Organ Systems ◽  
Cystic Fibrosis Transmembrane ◽  
Sweat Sodium

Cystic fibrosis (CF) is an exocrine disease affecting multiple organ systems. Patients with CF usually present with respiratory or gastrointestinal abnormalities. This study presents a case of a previously healthy 17-yr-old man who was diagnosed with CF after presenting with metabolic alkalosis and hypokalemia. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel. Partially functional CFTR may be associated with less severe pulmonary and gastrointestinal manifestations, as in the case presented. Dysfunctional CFTR in the sweat ducts of CF patients are responsible for excessive chloride and sodium losses, especially in warm weather. Hypokalemia seen with heat stress is secondary to sweat as well as renal potassium wasting. Metabolic alkalosis is maintained by the excessive sweat sodium chloride losses which leads to extracellular fluid (ECF) volume contraction and chloride depletion. Generation of alkalosis may be related to dysfunctional CFTR in the kidney, but is most likely secondary to hypokalemia with ECF volume contraction. Finally, one must consider CF when confronted with hypokalemia and alkalosis in a previously healthy patient.

Characterizing diverse orthologues of the cystic fibrosis transmembrane conductance regulator protein for structural studies

2015 ◽  
Vol 43 (5) ◽  
pp. 894-900 ◽  
Author(s):  
Naomi L. Pollock ◽  
Tracy L. Rimington ◽  
Robert C. Ford
Keyword(s):  
Cystic Fibrosis ◽  
Structural Data ◽  
Transmembrane Conductance Regulator ◽  
Loss Of Function ◽  
Transmembrane Conductance ◽  
Functional Studies ◽  
Regulator Protein ◽  
Organ Systems ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane

As an ion channel, the cystic fibrosis transmembrane conductance regulator (CFTR) protein occupies a unique niche within the ABC family. Orthologues of CFTR are extant throughout the animal kingdom from sharks to platypods to sheep, where the osmoregulatory function of the protein has been applied to differing lifestyles and diverse organ systems. In humans, loss-of-function mutations to CFTR cause the disease cystic fibrosis, which is a significant health burden in populations of white European descent. Orthologue screening has proved fruitful in the pursuit of high-resolution structural data for several membrane proteins, and we have applied some of the princples developed in previous studies to the expression and purification of CFTR. We have overexpressed this protein, along with evolutionarily diverse orthologues, in Saccharomyces cerevisiae and developed a purification to isolate it in quantities sufficient for structural and functional studies.

scholarly journals Toll like Receptor signalling by Prevotella histicola activates alternative NF-κB signalling in Cystic Fibrosis bronchial epithelial cells compared to P.aeruginosa

2020 ◽  
Author(s):  
A. Bertelsen ◽  
J.S. Elborn ◽  
B.C. Schock
Keyword(s):  
Cystic Fibrosis ◽  
Epithelial Cells ◽  
Bacterial Infections ◽  
Bacterial Species ◽  
Multiple Organ ◽  
Bronchial Epithelial Cells ◽  
Toll Like Receptor ◽  
Bronchial Epithelial ◽  
Hek 293 ◽  
Organ Systems

AbstractCystic Fibrosis (CF), caused by mutations affecting the CFTR gene, is characterised by viscid secretions in multiple organ systems. CF airways contain thick mucus, creating a gradient of hypoxia, which promotes the establishment of polymicrobial infection. Such inflammation predisposes to further infection, a self-perpetuating cycle in mediated by NF-κB. Anaerobic Gram-negative Prevotella spp. are found in sputum from healthy volunteers and CF patients and in CF lungs correlate with reduced levels of inflammation. Prevotella histicola (P.histicola) can suppress murine lung inflammation, however, no studies have examined the role of P.histicola in modulating infection and inflammation in the CF airways. We investigated innate immune signalling and NF-kB activation in CF epithelial cells CFBE41o-in response to clinical stains of P.histicola and Pseudomonas aeruginosa (P.aeruginosa). Toll-Like Receptor (TLR) expressing HEK-293 cells and siRNA assays for TLRs and IKKa were used to confirm signalling pathways.We show that P.histicola infection activated the alternative NF-kB signalling pathway in CF bronchial epithelial cells inducing HIF-1α protein. TLR5 signalling was responsible for the induction of the alternative NF-kB pathway through phosphorylation of IKKα. The induction of transcription factor HIF-1α was inversely associated with the induction of the alternative NF-kB pathway and knockdown of IKKα partially restored canonical NF-kB activation in response to P.histicola.This study demonstrates that different bacterial species in the respiratory microbiome can contribute differently to inflammation, either by activating inflammatory cascades (P.aeruginosa) or by muting the inflammatory response by modulating similar or related pathways (P.histicola). Further work is required to assess the complex interactions of the lung microbiome in response to mixed bacterial infections and their effects in people with CF.

scholarly journals Role of collecting duct endothelin in control of renal function and blood pressure

2013 ◽  
Vol 305 (7) ◽  
pp. R659-R668 ◽  
Author(s):  
Donald E. Kohan
Keyword(s):  
Arterial Pressure ◽  
Collecting Duct ◽  
Extracellular Fluid ◽  
Multiple Organ ◽  
The Body ◽  
Water Reabsorption ◽  
Organ Systems ◽  
Key Issues ◽  
Salt Sensitive Hypertension

Over 26,000 manuscripts have been published dealing with endothelins since their discovery 25 years ago. These peptides, and particularly endothelin-1 (ET-1), are expressed by, bind to, and act on virtually every cell type in the body, influencing multiple biological functions. Among these actions, the effects of ET-1 on arterial pressure and volume homeostasis have been most extensively studied. While ET-1 modulates arterial pressure through regulation of multiple organ systems, the peptide's actions in the kidney in general, and the collecting duct in particular, are of unique importance. The collecting duct produces large amounts of ET-1 that bind in an autocrine manner to endothelin A and B receptors, causing inhibition of Na+ and water reabsorption; absence of collecting duct ET-1 or its receptors is associated with marked salt-sensitive hypertension. Collecting duct ET-1 production is stimulated by Na+ and water loading through local mechanisms that include sensing of salt and other solute delivery as well as shear stress. Thus the collecting duct ET-1 system exists, at least in part, to detect alterations in, and maintain homeostasis for, extracellular fluid volume. Derangements in collecting duct ET-1 production may contribute to the pathogenesis of genetic hypertension. Blockade of endothelin receptors causes fluid retention due, in large part, to inhibition of the action of ET-1 in the collecting duct; this side effect has substantially limited the clinical utility of this class of drugs. Herein, the biology of the collecting duct ET-1 system is reviewed, with particular emphasis on key issues and questions that need addressing.

scholarly journals Perioperative Management and Preemptive ECMO Cannulation of a Parturient with Cystic Fibrosis Undergoing Cesarean Delivery

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Thais Franklin Dos Santos ◽  
Andrea Rabassa ◽  
Oscar Aljure ◽  
Reine Zbeidy
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Failure ◽  
Cesarean Delivery ◽  
Perioperative Management ◽  
Pancreatic Insufficiency ◽  
Multiple Organ ◽  
Organ Systems ◽  
Cardiac Manifestations ◽  
Poor Nutrition ◽  
Physiologic Changes Of Pregnancy

Physiologic changes of pregnancy and cystic fibrosis pathology provide a unique set of circumstances. Pulmonary disease accounts for over 90% of the morbidity and mortality of patients with cystic fibrosis. These abnormalities create anesthetic challenges due to multiple organ systems being affected including the respiratory, gastrointestinal, cardiovascular, and genitourinary tracts, where patients present with chronic respiratory failure, pancreatic insufficiency, poor nutrition, and cardiac manifestations. We present the perianesthetic management of a parturient with cystic fibrosis who successfully underwent preterm cesarean delivery under neuraxial anesthesia with preemptive bilateral femoral venous sheaths placed for potential extracorporeal membrane oxygenation (ECMO) initiation.

Cystic fibrosis and caseload midwifery

2021 ◽  
Vol 29 (12) ◽  
pp. 712-717
Author(s):  
Sophie Borges
Keyword(s):  
Cystic Fibrosis ◽  
Multiple Organ ◽  
Holistic Care ◽  
Health And Wellbeing ◽  
Caseload Midwifery ◽  
Organ Systems ◽  
Psychosocial Implications ◽  
Small Team ◽  
Improve Health ◽  
Made In

Midwives must provide woman-centred, holistic care for the diverse UK childbearing population. As the NHS moves to adopt the recommendations made in the ‘Better Births’ report, is there an argument to invest in protected caseload midwifery contacts for women with cystic fibrosis? Caseload midwifery refers to a continuity model where a small team of midwives provide care throughout the antenatal, intrapartum and postnatal continuum. Cystic fibrosis affects multiple organ systems and requires specialist medical management during pregnancy. Living with cystic fibrosis has many psychosocial implications and pregnancy presents additional challenges. Health and wellbeing outcomes are improved when individuals are treated holistically in the non-pregnant population; therefore, during pregnancy, birth and postnatally, caseload midwifery may provide a legitimate intervention to improve health outcomes in pregnant women with cystic fibrosis.

Cystic fibrosis - general review on sinonasal complications and case report

2017 ◽  
Vol 7 (25) ◽  
pp. 33-37
Author(s):  
Claudiu Manea ◽  
Alina Diaconescu
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Case Report ◽  
Life Expectancy ◽  
Multiple Organ ◽  
Lower Airway ◽  
General Review ◽  
Organ Systems ◽  
Sinonasal Disease

Abstract An irreversible disease, cystic fibrosis (CF), is responsible for affecting multiple organ systems containing epithelia. It is well known that the sinonasal disease caused by CF has consequences for the incidence of the lower airway exacerbations, as well as affecting the quality of life of those patients. This review provides an update by evaluating the available literature regarding pathogenesis, management and treatment of cystic fibrosis patients. To gain a better view of the disease and obtain a higher life expectancy, further studies are needed.

scholarly journals Animal models of gastrointestinal and liver diseases. Animal models of cystic fibrosis: gastrointestinal, pancreatic, and hepatobiliary disease and pathophysiology

2015 ◽  
Vol 308 (6) ◽  
pp. G459-G471 ◽  
Author(s):  
Alicia K. Olivier ◽  
Katherine N. Gibson-Corley ◽  
David K. Meyerholz
Keyword(s):  
Cystic Fibrosis ◽  
Gastrointestinal Tract ◽  
Animal Models ◽  
Liver Diseases ◽  
Multiple Organ ◽  
Hepatobiliary Disease ◽  
Future Directions ◽  
Organ Systems

Multiple organ systems, including the gastrointestinal tract, pancreas, and hepatobiliary systems, are affected by cystic fibrosis (CF). Many of these changes begin early in life and are difficult to study in young CF patients. Recent development of novel CF animal models has expanded opportunities in the field to better understand CF pathogenesis and evaluate traditional and innovative therapeutics. In this review, we discuss manifestations of CF disease in gastrointestinal, pancreatic, and hepatobiliary systems of humans and animal models. We also compare the similarities and limitations of animal models and discuss future directions for modeling CF.

scholarly journals Cystic Fibrosis Human Organs-on-a-Chip

Micromachines ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 747
Author(s):  
Herbert Luke Ogden ◽  
Hoyeol Kim ◽  
Kathryn A. Wikenheiser-Brokamp ◽  
Anjaparavanda P. Naren ◽  
Kyu Shik Mun
Keyword(s):  
Cystic Fibrosis ◽  
Animal Models ◽  
Exocrine Insufficiency ◽  
Bicarbonate Ions ◽  
Organ Systems ◽  
Key Characteristics ◽  
Pancreatic Exocrine ◽  
Discovery Science ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene: the gene product responsible for transporting chloride and bicarbonate ions through the apical membrane of most epithelial cells. Major clinical features of CF include respiratory failure, pancreatic exocrine insufficiency, and intestinal disease. Many CF animal models have been generated, but some models fail to fully capture the phenotypic manifestations of human CF disease. Other models that better capture the key characteristics of the human CF phenotype are cost prohibitive or require special care to maintain. Important differences have been reported between the pathophysiology seen in human CF patients and in animal models. These limitations present significant limitations to translational research. This review outlines the study of CF using patient-derived organs-on-a-chip to overcome some of these limitations. Recently developed microfluidic-based organs-on-a-chip provide a human experimental model that allows researchers to manipulate environmental factors and mimic in vivo conditions. These chips may be scaled to support pharmaceutical studies and may also be used to study organ systems and human disease. The use of these chips in CF discovery science enables researchers to avoid the barriers inherent in animal models and promote the advancement of personalized medicine.

Microprobe analysis of inclusion bodies related to two benzofuran derivatives

1987 ◽  
Vol 45 ◽  
pp. 672-673
Author(s):  
T. L. Benning ◽  
P. Ingram ◽  
J. D. Shelburne
Keyword(s):  
Inclusion Bodies ◽  
Uranyl Acetate ◽  
Multiple Organ ◽  
High Dose ◽  
En Bloc ◽  
Tissue Samples ◽  
Transmission Electron ◽  
Organ Systems ◽  
Dense Inclusion ◽  
Melanin Complex

Two benzofuran derivatives, chlorpromazine and amiodarone, are known to produce inclusion bodies in human tissues. Prolonged high dose chlorpromazine therapy causes hyperpigmentation of the skin with electron-dense inclusion bodies present in dermal histiocytes and endothelial cells ultrastructurally. The nature of the deposits is not known although a drug-melanin complex has been hypothesized. Amiodarone may also cause cutaneous hyperpigmentation and lamellar lysosomal inclusion bodies have been demonstrated within the cells of multiple organ systems. These lamellar bodies are believed to be the product of an amiodarone-induced phospholipid storage disorder. We performed transmission electron microscopy (TEM) and energy dispersive x-ray microanalysis (EDXA) on tissue samples from patients treated with these drugs, attempting to detect the sulfur atom of chlorpromazine and the iodine atom of amiodarone within their respective inclusion bodies.A skin biopsy from a patient with hyperpigmentation due to prolonged chlorpromazine therapy was fixed in 4% glutaraldehyde and processed without osmium tetroxide or en bloc uranyl acetate for Epon embedding.

Impairment Rating and Spinal Cord Injuries: Revisiting the Guides

2010 ◽  
Vol 15 (3) ◽  
pp. 1-7
Author(s):  
Richard T. Katz
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injuries ◽  
Functional Independence ◽  
Outcome Data ◽  
Multiple Organ ◽  
Loss Of Function ◽  
Sixth Edition ◽  
Organ Systems ◽  
Cord Injury ◽  
Impairment Ratings

Abstract This article addresses some criticisms of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) by comparing previously published outcome data from a group of complete spinal cord injury (SCI) persons with impairment ratings for a corresponding level of injury calculated using the AMA Guides, Sixth Edition. Results of the comparison show that impairment ratings using the sixth edition scale poorly with the level of impairments of activities of daily living (ADL) in SCI patients as assessed by the Functional Independence Measure (FIM) motor scale and the extended FIM motor scale. Because of the combinations of multiple impairments, the AMA Guides potentially overrates the impairment of paraplegics compared with that of quadriplegics. The use and applicability of the Combined Values formula should be further investigated, and complete loss of function of two upper extremities seems consistent with levels of quadriplegia using the SCI model. Some aspects of the AMA Guides contain inconsistencies. The concept of diminishing impairment values is not easily translated between specific losses of function per organ system and “overall” loss of ADLs involving multiple organ systems, and the notion of “catastrophic thresholds” involving multiple organ systems may support the understanding that variations in rating may exist in higher rating cases such as those that involve an SCI.

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