Cftr - Guides d'étude, Notes de cours & Résumés

biomarkers Ans: -objective and quantifiable measurement or characteristic of a biological process -indicator of a biologic process -molecular pathology = gene or gene product associated with a disease process ideal biomarker Ans: -relevant and valid to a specific disease state -provides actionable or prognostic info -quantifiable in easily obtained tissue or fluid -economical to test in a reproducible fashion caveat to biomarkers Ans: -molecular pathology biomarkers can be the prot...

Cystic Fibrosis PathoMutation in gene CFTR on chromosome 7 Chloride channels are affected by the mutation in the gene - specifically, in the case of the lungs, chloride cannot be secreted across the epithelium into the lung tissue to moisten them Since the chloride is unable to be secreted the sodium is not secreted and neither in water, causing thick secretions in the lungs Tay Sachs PathoAccumulation of glycolipids in the brain neuron and retina due to failure of lysosome function . The Lys...

NU 327 Exam 3 Questions with All Correct Answers Emphysema pathogenesis - Answer- - release of proteolytic enzymes from inflammatory cells, smoking stimulates response and inactivates antitrypsin - breakdown of alveolar walls, abnormal enlargement of air sacs Emphysema loss of alveolar wall - Answer- - decreased capillary beds for gas exchange - decreased elasticity of lung tissue - increased airway resistance and decreased air flow - air trapping in alveoli emphysema s&s - Answer- -...

WGU C652 Objective Assessment (Latest 2024/ 2025 Update) Heredity and Genetics | Prep Questions and Verified Answers| 100% Correct| Grade A Q: How did the Human Genome Project attempt to deal with the social and ethical issues that were bound to arise from the sequencing of the human genome? Answer: In addition to the scientific elements of the project, the organizers of the HGP set up a program called ELSI to address the ethical, legal, and social implications of genomics research. Thi...

2.3 Interest of proteomics In CF-related research, proteomics appears as an interesting complementary way to perform large-scale analysis of gene expression. Proteomic investigation of a biological system should ideally detect all proteins and their functional response to a stimulus. Even though this purpose is ambitious, given the present technical limitations, it allows some changes in the proteome or at least in a significant segment of it to be identified. Among the most important li...

CSP NASP QUESTION BANK + CSP HANDBOOK QUESTIONS AND ANSWERS, 100% ACCURATE. RB is a 20 year old female recently approved for CF treatment with Trikafta® (elexacaftor/tezacaftor/ivacaftor). She is homozygous for the F508 del mutation in the CFTR gene and meets criteria for treatment with this medication. Her current medications include inhaled albuterol, normal saline, tobramycin, Advair® and Pulmozyme®. She is also taking buspirone, cetirizine, vitamin D3, insulin (regular and long...

allergic rhinitis pathophysiology - correct answer APCs (dendritics) at mucosal surfaces present peptides from allergens to MHC-II = ligand for naive CD4 = Th2 activation and cytokine secretion / B cell isotype switching = IgE and eosino/mast/neutro proliferation IgE binds to mast cells / basophils allergic rhinitis early reaction - correct answer w/in 30min, type I HS IgE binds mast cells = s...

Edexcel A-level biology exam questions and answers 100% pass Describe the events of fertilisation that occur after the acrosome reaction. - Answer-- Membrane of sperm and egg cell fuse together -cortical granules release contents into zona pellucida -Zona pellucida thickens -Haploid nuclei fuse Explain how phospholipids form a cell surface membrane - Answer--Hydrophilic parts associate with water -Hydrophobic parts repel water -a bilayer forms with hydrophobic parts pointing in towards...

Edexcel A-level biology exam questions and answers 100% pass Describe the events of fertilisation that occur after the acrosome reaction. - Answer-- Membrane of sperm and egg cell fuse together -cortical granules release contents into zona pellucida -Zona pellucida thickens -Haploid nuclei fuse Explain how phospholipids form a cell surface membrane - Answer--Hydrophilic parts associate with water -Hydrophobic parts repel water -a bilayer forms with hydrophobic parts pointing in towards...

BCHM 270 DISEASES TEST QUESTIONS WITH ANSWERS VERIFIED AND UPDATED Steatorrhea - Answer-Biochemistry: Lipid malabsorption due to loss of bile salts or lipases Symptoms: Increased presence of lipids in feces Cystic Fibrosis - Answer-Biochemistry: Loss of pancreatic enzymes due to CF-related mucosal thickening in the pancreas, which blocks pancreatic ducts and causes poor digestion. The body has two faulty copies of the cystic fibrosis tramsmembrane conductance regulator (CFTR) gene. CFTR i...