* The basic structure of an amino acid For A Level Biology, this video explains what cystic fibrosis is.. longman foundation science for gcse Download eBook PDF EPUB. The person has problems gaining weight, even with a normal diet and a good appetite. 2.14 (ii): Know that some mutations will give rise to cancer or genetic disorders, but that many mutations will have no observable effect 2.13 (ii): Understand the roles of the DNA template (antisense) strand in transcription, codons on messenger RNA and anticodons on transfer RNA The topic also allows for discussion of the social and ethical issues surrounding the genetic screening for genetic conditions. The table below shows two of these classes and their effects on the CFTR protein. Due to the detailed content of this lesson, it is estimated that it will take in excess of 3 hours of allocated A-level teaching time to cover. Currently there is no cure for cystic fibrosis but scientists are trying to find a cure. https://doi.org/10.3390/ijms24054635, Subscribe to receive issue release notifications and newsletters from MDPI journals, You can make submissions to other journals. 2.14 Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems. Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. ATS Mycobacterial Diseases Subcommittee, American Thoracic Society, & Infectious Disease Society of America. ; Noone, P.G. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. 2.14 (i): Understand how errors in DNA replication can give rise to mutations (substitution, insertion and deletion of bases) The main focus of the lesson is the CFTR gene and the functions of the ion channel that is synthesised when this gene is expressed. * Simple and facilitated diffusion as methods of passive transport Genetic screening can be used to test for the In order to be human-readable, please install an RSS reader. Degiacomi, G.; Sammartino, J.C.; Chiarelli, L.R. Not ready to purchase the revision kit yet? basement membrane 3.15: Understand how some phenotypes are affected by multiple alleles for the same gene at many loci (polygenic inheritance) as well as the environment and how this can give rise to phenotypes that show continuous variation You seem to have javascript disabled. The lesson PowerPoints are highly detailed, and along with their accompanying worksheets, they have been planned at length to contain a wide range of engaging tasks which cover the following A-level Biology content found in topics 2, 3 and 6 of the course: Following this flow, different ongoing studies are evaluating new synthetic molecules but also poorly-studied phytochemicals, often looking for new sources like marine plants. * Patterns of inheritance, in the context of monohybrid inheritance Chitambar, C.R. ; Nick, J.A. ; Rohwer, F.; Benler, S.; et al. When a CFTR protein with the delta F508 mutation reaches the ER, the quality-control mechanism of this cellular component recognises that the protein is folded incorrectly and marks the defective protein for degradation. 30 terms. This drug is In writing, explain possible reasons for any differences. Coordination, Response & Gene Technology, 8.2 How a Response is Generated by Effectors, 8.7 The Effects of Drugs on Nervous Transmission, 8.12 Core Practical 18: Amylase in Germinating Cereal Grains, 8.17 Drug Production from Genetically Modified Organisms, 8.19 Transfer of Recombinant DNA into Other Cells, The polypeptide can affect the phenotype, e.g. ; Horsburgh, R.; Huitt, G.; Iademarco, M.F. ; Sammartino, J.C.; Poli, G.; Tuccinardi, T.; Beretta, G.; Porta, A.; et al. Weaknesses: Unbeatable support throughout the qualification. ; Pasca, M.R. 2.16: Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems ; Bindokas, V.; et al. ; Gupta, S.; Olivier, K.N. CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Kutateladze, M.; Adamia, R. Bacteriophages as potential new therapeutics to replace or supplement antibiotics. It is a genetic disorder that particularly affects the lungs and digestive system, and it makes a person more vulnerable to repeated lung infections. Cystic fibrosis is a genetic disorder caused by a recessive allele. Visit our dedicated information section to learn more about MDPI. Use of artificial intelligence in the design of small peptide antibiotics effective against a broad spectrum of highly antibiotic-resistant superbugs. ; Anggard, E.E. Daley, C.L. 6.17: Know how DNA can be amplified using the polymerase chain reaction (PCR). Grasemann, H.; Grasemann, C.; Kurtz, F.; Tietze-Schillings, G.; Vester, U.; Ratjen, F. Oral L-arginine supplementation in cystic fibrosis patients: A placebo-controlled study. This disrupts the essential balance of salt and water that is needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4].Symptoms of Cystic FibrosisLungsIn a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. * The uses and implications of genetic screening and prenatal testing ; Huang, T.T. Di, A.; Brown, M.E. Thus, new . https://doi.org/10.3390/ijms24054635, Recchia D, Stelitano G, Stamilla A, Gutierrez DL, Degiacomi G, Chiarelli LR, Pasca MR. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. * Enzymes are biological catalysts Slavin, Y.N. Banaschewski, B.; Verma, D.; Pennings, L.J. ; Rose, T.; Keersebilck, E.; Soete, O.; Francois, P.M.; Teodorescu, S.; Verween, G.; et al. Males - vas deferens blocked or missing so no/ little sperm released from the testis, sweat more salty as not reabsorbed in the sweat glands. sign up for updates, or to let us know that 5: 4635. High-quality assessments: Unbeatable support . . ; de Castro e Silva, J.; Simon, K.S. ; Carrasco-Anton, N.; Esteban, J. [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. 3.12: Understand how cells become specialised through differential gene expression, producing active mRNA leading to synthesis of proteins, which in turn control cell processes or determine cell structure in animals and plants, including the lac operon How does cystic fibrosis affect the reproductive system? A phase I clinical study of inhaled nitric oxide in healthy adults. This website and its content is subject to our Terms and * The involvement of ATP and carrier proteins in active transport, endocytosis and exocytosis Evaluation of the antimicrobial activity of the mastoparan Polybia-MPII isolated from venom of the social wasp. When both parents are carriers, there is a one in four chance of having a child with CF, a one in two chance of having a child who is a carrier and a one in four chance of having an unaffected child. ; et al. (This article belongs to the Special Issue, Cystic fibrosis (CF) is one of the most common serious genetic conditions. * The basic structure of mononucleotides * The formation of polypeptides and proteins How many people would you expect to have the disease in a population of 100,000? Upregulation of inducible nitric oxide synthase and cytokine secretion in peripheral blood monocytes from pulmonary tuberculosis patients. * The role of channel and carrier proteins in membrane transport There's more than one qualification for this subject. This case study is about Cystic Fibrosis is abortion of a cystic fibrosis child ethical. * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems The mucus becomes thick, sticky, and hard to move. Please let us know what you think of our products and services. Most genetic disorders, like cystic fibrosis, . Spallanzani, University of Pavia, 27100 Pavia, Italy. [6]. First assessment: 2016. Treatment of nontuberculous mycobacterial pulmonary disease: An official ATS/ERS/ESCMID/IDSA clinical practice guideline. ; Shukla, S.; Chung, Y.H. Thakur, A.; Mikkelsen, H.; Jungersen, G. Intracellular pathogens: Host immunity and microbial persistence strategies. CFTR transports chloride ions (Cl-) ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for Our customer service team will review your report and will be in touch. The lesson PowerPoints are highly detailed, and along with their accompanying worksheets, they have been planned at length to contain a wide range of engaging tasks which cover the following A-level Biology content found in topics 2, 3 and 6 of the course: ), are all examples of nanomedicine tools, powerful drug delivery systems with the advantages of high efficiency and specificity and a sustained drug release over time at the target site. ; Silva, T. Looking beyond typical treatments for atypical mycobacteria. The sticky mucus also provides an ideal environment for bacterial growth. This should not allow drug resistance to develop [, The horizontal gene transfer and the consequent transmission of resistance genes should not be an issue in AVT, in fact, most VFs are present in a few closely related species. * Enzymes are biological catalysts that reduce activation energy 3.8 (ii): The linkage of genes on a chromosome and sex linkage Recent advances on antimicrobial wound dressing: A review. ; Savant, A.P. ; Wallace, R.J., Jr. A novel gene, erm(41), confers inducible macrolide resistance to clinical isolates of. The aim is to provide a snapshot of some of the All of the questions included in the lesson have mark schemes which are embedded into the PowerPoint and this allows the students to assess their progress. In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR. ; Sennato, S.; De Santis, F.; Forte, J.; Fraziano, M.; Casciardi, S.; Marianecci, C.; Bordi, F.; Carafa, M. Rifampicin-liposomes for, Poerio, N.; Riva, C.; Olimpieri, T.; Rossi, M.; Lor, N.I. ; Rssmann, H.; Mauch, H. Bedaquiline as a potential agent in the treatment of. Choi, S.R. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. Energy Flow, Ecosystems & the Environment, 5.3 Photosynthesis: Light-Dependent Stage, 5.4 Photosynthesis: Light-Independent Stage, 5.7 Separation of Photosynthetic Pigments with Chromatography, 5.8 Core Practical 10: Rate of Photosynthesis, 5.14 Core Practical 11: Quadrat & Transect Study, 5.18 Carbon Cycle & Environmental Management, 5.19 Models for Predicting Climate Change, 5.21 The Effect of Temperature on Enzyme Reactions, 5.22 Core Practical 12: Effect of Temperature on Development, 5.23 Mutation, Natural Selection & Evolution, 5.25 Contentious Issues in Environmental Science, 5.26 Examples of Sustainable Conservation, 6.2 Measuring the Growth of Microorganisms, 6.4 Core Practical 13: Rate of Growth of Microorganisms, 6.5 Comparison of Bacterial & Viral Structure, 6.12 Pathogens vs Hosts: An Evolutionary Race, 6.14 Core Practical 14: The Effects of Different Antibiotics, 6.20 Types of Data Provided by Forensic Analysis, 7. ; Chen, A.; Sack, M.; Pokorski, J.K.; et al. Bogdan, C. Nitric oxide and the immune response. Thank you for such detailed feedback and really pleased to hear that this is the second time you've purchased some of my resources and been very happy! ; Coutinho, P.; Mendonca, A.G.; Correia, I.J. In this context, drugs already used against, To date, there is not a consolidated standard drug regimen to treat MABSC infections, although the US Cystic Fibrosis Foundation and the European Cystic Fibrosis Society published consensus recommendations for the management of NTM in patients with CF [. Dagenais, R.V.E. in 2013 reported an MIC of 25 g/mL against, More specific research analyses 22 pure compounds extracted from different parts of 4 medicinal plants (, All the reported studies indicate that plants and fungi are still nowadays a source with a huge potential for discovering new molecules that are effective in fighting, In conclusion, this review provides an overview of the latest findings on innovative therapies against, For some of the strategies described, positive results have been obtained at the early pre-clinical stages, and it is hoped that these will form the basis for developing these strategies and confirming their efficacy in vivo so that they can reach the clinical trial stage. Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. ; Daher, W.; Kremer, L. Verapamil Improves the Activity of Bedaquiline against, Vesenbeckh, S.; Schnfeld, N.; Roth, A.; Bettermann, G.; Krieger, D.; Bauer, T.T. Learn more about switching to Pearson, ), as well as hybrid nanoparticles (micelles, nanocarriers, carbon nanotubes and nano-sponges, polymerosomes, etc. Sample exam questions - genetics - Edexcel . 3.9 (ii): Understand the linkage of genes on a chromosome with cystic fibrosis who are infected with these bacteria. Bacteria Percentage of people with cystic fibrosis who have a lung infection (%) 5 years old 15 years old 25 years old 35 years old 45 years old P. aeruginosa 34 70 82 82 75 S. aureus 42 45 35 31 25 (i) Using the information in the table, describe the relationship between the age * Globular and fibrous proteins using haemoglobin and collagen as examples CF is a multi-organ disease affecting organs such as the pancreas, liver, reproductive tract, and lungs [, In addition to the respiratory symptoms, CF is often associated with pancreatic insufficiency, which results in defective digestion, diarrhoea, malabsorption, growth retardation in children, and poor nutritional status in adults [, The life span of CF individuals mainly depends on the evolution of the lung disease [. Phage therapy of. - can lead to designer babies at 8-12 weeks A-level Biology) This lesson bundle contains 16 lessons which have been designed to cover the Edexcel International A-level Biology specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. KMBT C454 20160622123319. ; Zelazny, A.M. Antimicrobial peptides against drug resistant, Trentini, M.M. Students should be encouraged to carry out a range of practical experiments related to this topic in order to develop their practical skills. This lesson bundle contains 16 lessons which have been designed to cover the Pearson Edexcel A-level Biology A (Salters Nuffield) specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. Hours and hours of planning have gone into each and every lesson that's included in this bundle to ensure that the students are engaged and motivated whilst the detailed content of topic 2 of the Edexcel International A-level Biology specification is covered. ; Jacobs-Sera, D.; Belessis, Y.; Whitney Brown, A.; Cohen, K.A. ; Ribeiro, M.P. Cystic fibrosis: A clinical view. ; Freedman, S.D. Cutting, G.R. This leads into the section of the lesson which considers the inheritance of cystic fibrosis in an autosomal recessive manner and then focuses on the change in the primary structure of the channel which results from one of over 1500 different gene mutations. Antibiotics to kill bacteria. Castellani, C.; Assael, B.M. ; project administration, M.R.P. Effects of Elexacaftor/Tezacaftor/Ivacaftor therapy on CFTR function in patients with cystic fibrosis and one or two F508del alleles. Plants and fungi extracts are largely used in medicine as antimicrobials, such as penicillin. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role . ; Yu, C.T. Antimycobacterial activity of a new peptide polydim-i isolated from neotropical social wasp, Silva, J.C.; Neto, L.M. In addition to the core practicals detailed below, possible experiments include investigation of the effect of surface area to volume ratio on uptake by diffusion, examination of slides of alveoli to observe the features that aid diffusion into the bloodstream, investigation of osmosis and diffusion across membranes, and investigation of inheritance using, for example, corn ears. How do the suggested fabrics on the pattern compare with those in the photographs? Chalmers, J.D. [, Therefore, being as this preliminary evidence very promising, it is advisable to continue to study the use of NO as an alternative strategy to treat, Phage therapy (PT) represents an old idea which has acquired renewed importance thanks to the successful recent case reports, where antibiotic-resistant lung infections in CF people were treated [, PT refers to the use of phages to fight bacterial infections. 2.11: Understand the nature of the genetic code * The basic structure of an amino acid It affects organs in the body, particularly the lungs and digestive system, which become clogged with sticky mucus, making it difficult to breathe and digest food. Exercise to dislodge the mucus 2.13 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, incomplete dominance, homozygote and heterozygote As the DNA base sequence determines the sequence of amino acids that make up a protein. All articles published by MDPI are made immediately available worldwide under an open access license. - DNA fragments in the mothers blood plasma and detects cell-free fetal DNA (cffDNA) and analysed Something went wrong, please try again later. For more information, please refer to People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. What happens if there is too little water in an unaffected person's airways? Judson, I.; Radford, J.A. I am doing this case study so people have an idea of what is cystic fibrosis in detail and what people think of it. A Science teacher by trade, I've also been known to be found teaching Maths and PE! * The properties of gas exchange surfaces in living organisms Again, the students are guided through the events that lead to the depletion of the apical surface liquid and the cilia being unable to move the viscous mucus. Everything that you need to pass A-level Biology. ; Lutfalla, G.; Kremer, L. Wang, C.H. With normal CFTR, once the protein is synthesized, it is transported to the endoplasmic reticulum (ER) and Golgi apparatus for additional processing before being integrated into the cell membrane. 2.6 (i): Understand the process of protein synthesis (transcription) including the role of RNA polymerase, translation, messenger RNA, transfer RNA, ribosomes and the role of start and stop codons Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. ; Trentini, M.M. - Informed decision of whether to carry out prenatal testing, - Emotional stress and affect ability to find a partner 3.14 (i): Phenotype is an interaction between genotype and the environment ; Piana, M.; Dos Santos Siqueira, F.; da Silva Jesus, R.; Athayde, M.L. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. Due to the detail included in each of these lessons, it is estimated that it will take in excess of 2 months of allocated teaching time to cover the content. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. * The meaning of key genetic terms Garment fabrics. Forstermann, U.; Sessa, W.C. Nitric oxide synthases: Regulation and function. Antimicrobial peptides: Pore formers or metabolic inhibitors in bacteria? How does cystic fibrosis affect the digestive system? 2.14: Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems PLGA nanocapsules improve the delivery of clarithromycin to kill intracellular, Rinaldi, F.; Hanieh, P.N. ; Santos, B.P. Defective phagocytosis in airways disease. How do family and peers affect decisions about clothing? ; Cristinziano, M.; Freeman, K.G. ; and funding acquisition, M.R.P. These drugs, which are called CFTR protein modulators, are able to restore CFTR function to a level of about 4050% of normal [, However, opportunistic infections remain the main issue for CF individuals, with those from NTM increasing alarmingly [, The therapy for pulmonary MABSC infections remains extremely difficult, being resistant to aminoglycosides, rifamycins, tetracyclines, and -lactams [, Therefore, it is necessary to continue to find alternatives to curb this problem. Nanoniosomes were not effective in vitro against, In conclusion, even if nanomedicine is a powerful tool used to successfully treat many diseases, only a few studies have been established to treat. Bentur, L.; Gur, M.; Ashkenazi, M.; Livnat-Levanon, G.; Mizrahi, M.; Tal, A.; Ghaffari, A.; Geffen, Y.; Aviram, M.; Efrati, O. ; Trovato, A.; Leao, S.C.; Garcia, M.J.; Vasireddy, S.; Turenne, C.Y. ; Guerrero-Bustamante, C.A. Locate the section on student dress in your school handbook. In fact, CFTR genetic variants can generate a great clinical heterogeneity with different manifestations of the disease, especially in the lungs, which consequently results in different treatments and cures throughout the persons life. Romero-Calle, D.; Guimaraes Benevides, R.; Goes-Neto, A.; Billington, C. Bacteriophages as alternatives to antibiotics in clinical care. - Further stress if other genetic abnormalities found Our customer service team will review your report and will be in touch. My arguments against the abortion of a cystic fibrosis child are that children with the disease should be allowed to live because they wont have a long live and they should be taken care from professionals. Combined Science Biology Chemistry Physics AQA. ; Young, L.; Baldwin, S.L. You are accessing a machine-readable page. My arguments for the abortion of a cystic fibrosis child are that the children that have cystic fibrosis and they are in a womens womb and the parents know they do is I think they should get the abortion because the kid will have a long suffering life and the parents will go through hard times. ; Saffery, R.; Ranganathan, S. Gene modifiers of cystic fibrosis lung disease: A systematic review. The lack of effective therapeutic solutions for MABSC infections worsens the life quality and expectancy of CF individuals, representing both a diagnostic and a treatment dilemma. This graph shows the age profile of all patients aged under and above 6 years. High-quality assessments: Unbeatable support, First teaching: 2015 These enzymes break down the fat. the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, The main focus of the lesson is the CFTR gene and the functions of the ion channel that is synthesised when this gene is expressed. ; Li, C.; Szeto, F.L. ; Sangen, J.; Wuest, A.W. Going through the ppt I recognised your style from some revision materials I purchased some time back which were also very good. 1) Excess water detected by the epithelial cell membrane. Single Award: 2 x 1 hr 45 minute papers worth 80 marks each (15% of grade each) 10% of qualification comes from a practical exam not assessed in the . at 7-9 weeks There are different forms of CF, more or less serious, which can also be identified in a more adult stage of life, comprising about 10% of total cases. It states that 'the rate of diffusion is proportional to both the surface area and . * The structure of proteins Luthra, S.; Rominski, A.; Sander, P. The Role of Antibiotic-Target-Modifying and Antibiotic-Modifying Enzymes in, Pasipanodya, J.G. The following specification points are covered by the lessons within this bundle: ; Saiman, L.; Daley, C.L. https://doi.org/10.3390/ijms24054635, Recchia, Deborah, Giovanni Stelitano, Alessandro Stamilla, Damaris L. Gutierrez, Giulia Degiacomi, Laurent R. Chiarelli, and Maria Rosalia Pasca. 3.20 (i): Phenotype is an interaction between genotype and the environment Need or want? There are different ways that a mutation in the DNA base sequence can occur: Remember that every group of three bases in a DNA sequence codes for an amino acid, This means that insertion mutations cause what is known as a, Like an insertion mutation, a deletion mutation, Substitution mutations can take three forms, Note that a stop codon provides a signal for the cell to stop translation of the mRNA molecule into an amino acid sequence, Duplication is a type of mutation that involves the, A whole gene or section of a gene is duplicated so that, Overtime, the second copy can undergo mutations which enable it to develop new functions, Gene and chromosome duplications occur in all organisms, though they are, Inversion mutations usually occur during crossing-over in meiosis, The result is a large section of the gene that is 'backwards' and therefore multiple amino acids are affected, Inversion mutations frequently result in a non-functional protein, In some cases an entirely different protein is produced, The mutation is often harmful because the original gene can no longer be expressed from that chromosome, If the other chromosome in the pair carries a working gene the effect of the mutation may be lessened, The polypeptide can affect the phenotype, e.g. In medicine as antimicrobials, such as penicillin not perform this role properly caused by recessive! 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