30 terms. registered in England (Company No 02017289) with its registered office at Building 3, Exploring Science 7 Summary Sheets 7e lbartman com. ; Riabova, O.; Makarov, V.; Pasca, M.R. However, the potential for impairment of essential immune functions by HIF-1 (hypoxia-inducible factor 1) inhibition demands a better comprehension of downstream hypoxia-dependent pathways that are amenable for manipulation. Mencarini, J.; Cresci, C.; Simonetti, M.T. Simoes, D.; Miguel, S.P. * The nature of the genetic code Currently there is no cure for cystic fibrosis but scientists are trying to find a cure. ; Wallin, W.A. They have been successfully used to treat a plethora of diseases, from cancer to infections and as putative wound dressing [, Recently, those tools have been also investigated as putative weapons against, One example is gallium-based nanoparticles, which showed significant results in blocking, The efficacy of liposome encapsulated rifampicin compared to free rifampicin, in an ex vivo, Nanoniosomes are vesicles with a composition similar to that of the cell membrane (named niosomes) that have been loaded with antibiotics or lignin-silver nanoparticles. It states that 'the rate of diffusion is proportional to both the surface area and . Upregulation of inducible nitric oxide synthase and cytokine secretion in peripheral blood monocytes from pulmonary tuberculosis patients. Grasemann, H.; Kurtz, F.; Ratjen, F. Inhaled L-arginine improves exhaled nitric oxide and pulmonary function in patients with cystic fibrosis. - Further stress if other genetic abnormalities found methods, instructions or products referred to in the content. Most genetic disorders, like cystic fibrosis, . ; Barnes, P.J. 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. However, strange as it may seem, my real love is designing resources that can be used by other teachers to maximise the experience of the students. Tes Global Ltd is squamous (alveoli and capillaries) and columnar (small intestine), appearance of multiple layers due to nuclei when there is only one, apical membrane - cilia and mucus 3.14 (i): Phenotype is an interaction between genotype and the environment ; de Castro e Silva, J.; Simon, K.S. no miscarriage risk 2.9 (i): Know the basic structure of mononucleotides (deoxyribose or ribose linked to a phosphate and a base, including thymine, uracil, adenine, cytosine or guanine) and the structures of DNA and RNA (polynucleotides composed of mononucleotides linked by condensation reactions to form phosphodiester bonds) Use of bacteriophages in the treatment of colistin-only-sensitive, Schooley, R.T.; Biswas, B.; Gill, J.J.; Hernandez-Morales, A.; Lancaster, J.; Lessor, L.; Barr, J.J.; Reed, S.L. Kutateladze, M.; Adamia, R. Bacteriophages as potential new therapeutics to replace or supplement antibiotics. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. Find support for a specific problem in the support section of our website. ), 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. Cystic Fibrosis is a genetic condition inherited in an autosomal recessive manner, the average probability of inheriting Cystic Fibrosis is 0.0015. a. ; Iaccarino, J.M. You are accessing a machine-readable page. The Cystic Fibrosis Foundation is a . 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. 3.18: Understand how cells become specialised through differential gene expression, producing active mRNA, leading to the synthesis of proteins which, in turn, control cell processes or determine cell structure in animals and plants All articles published by MDPI are made immediately available worldwide under an open access license. It is a recessive genetic trait. ; Degiacomi, G.; Chiarelli, L.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. These enzymes break down the fat. - Informed decision of whether to carry out prenatal testing, - Emotional stress and affect ability to find a partner Cystic fibrosis (CF) is the number-one life-shortening inherited disease of young people. 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. 2023, 24, 4635. ; Ortega-Rivera, O.A. In order to be human-readable, please install an RSS reader. Bento, C.M. * The meaning of key genetic terms A Science teacher by trade, I've also been known to be found teaching Maths and PE! Editors Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. Cystic fibrosis affects over 7,500 people in the UK [2]. Chan, B.K. 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. New A level mocks service What happens if there is too little water in an unaffected person's airways? This website and its content is subject to our Terms and These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. * Errors in DNA replication give rise to mutations In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. ; Weimann, A.; Everall, I.; Bryant, J.M. Although the majority of the lesson is described with reference to the gaseous exchange system, the impaired functioning of the digestive system in terms of the blockage of the pancreas and liver secretions is considered and discussed and the students are challenged on their understanding through a range of exam-style questions. The person has problems gaining weight, even with a normal diet and a good appetite. [, 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. * The nature of the genetic code About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. Gibson, L.E. 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. Exercise to dislodge the mucus ; MacDonald, S.D. ; Aksamit, T.; Brown-Elliott, B.A. basement membrane ; Philley, J.V. If you're ready to pass your Edexcel A-Level Biology exams, become a member now to get complete access to our entire library of revision materials. 2.8: Know that a gene is a sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide chain ; et al. ; project administration, M.R.P. She has 8 years of classroom experience teaching Key Stage 3 up to A-Level biology, and is currently a tutor and A-Level examiner. This topic considers the following biological principles through the context of the genetic disease cystic fibrosis: the properties of and transport of materials, across cell membranes and gas exchange surfaces, DNA structure and replication, protein synthesis, enzymes and monohybrid inheritance through the context of the genetic disease cystic People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. * The basic structure of mononucleotides ; et al. ; Beiss, V.; Chan, S.K. Buroni, S.; Chiarelli, L.R. Naomi graduated from the University of Oxford with a degree in Biological Sciences. 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. Ribet, D.; Cossart, P. How bacterial pathogens colonize their hosts and invade deeper tissues. * Intracellular and extracellular enzymes Cystic fibrosis is classified according to the effect of the mutation on the CFTR protein. Shanthikumar, S.; Neeland, M.N. ; Davidson, R.M. 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. ; Nick, J.A. These enzymes break down the fat.If you have cystic fibrosis, the pancreas does not produce enzymes. Antimicrobial properties of, Bogdanovski, K.; Chau, T.; Robinson, C.J. The gene codes for a particular protein which allows for the . 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. Li, B.; Zhang, Y.; Guo, Q.; He, S.; Fan, J.; Xu, L.; Zhang, Z.; Wu, W.; Chu, H. Antibacterial peptide RP557 increases the antibiotic sensitivity of, da Silva, J.L. Naomi especially enjoys creating resources that enable students to build a solid understanding of subject content, while also connecting their knowledge with biologys exciting, real-world applications. This video explains about Cystic Fibrosis as a whole and how it affects the human body. * Globular and fibrous proteins using haemoglobin and collagen as examples 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: ; Wallace, R.J., Jr. A novel gene, erm(41), confers inducible macrolide resistance to clinical isolates of. ; Bourne, S. Phage as an antimicrobial agent: dHerelles heretical theories and their role in the decline of phage prophylaxis in the West. ; Rendon, A.; Franco, I. Non-tuberculous mycobacterial pulmonary infections. How do family and peers affect decisions about clothing? Students should be encouraged to carry out a range of practical experiments related to this topic in order to develop their practical skills. ; Silva, L.P.; Mortari, M.R. [6]. Something went wrong, please try again later. Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. 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. The authors declare no conflict of interest. Clofazimine inhalation suspension for the aerosol treatment of pulmonary nontuberculous mycobacterial infections. 2.5 (i): Know the basic structure of mononucleotides (deoxyribose or ribose linked to a phosphate and a base, including thymine, uracil, cytosine, adenine or guanine) and the structures of DNA and RNA (polynucleotides composed of mononucleotides linked through condensation reactions) [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. Cystic fibrosis genetics: From molecular understanding to clinical application. ; Quon, B.S. Physics paper 2 - 6.1-6.6. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. ; Lutfalla, G.; Kremer, L. Wang, C.H. AMPs are short polypeptides, generally smaller than 100 amino acids, which are rich in lysin, arginine, and hydrophobic residues, and show antibacterial activity and immunomodulatory properties [, Recent studies demonstrated the efficacy of some AMPs against, For example, RP557 is an AMP, designed with the iterative chemical structure of the human cathelicidin LL-37, that showed a broad-spectrum antibacterial and antifungal activity (, Non-Disulfide-Bridge-Peptide 5.5 (NDBP-5.5) is an amphipathic molecule derived from the, Polydim-I (AVAGEKLWLLPHLLKMLLTPTP) is an AMP isolated from the poison of the Brazilian wasp, Polybia-II (WLKLGKMVIDAL) is another AMP isolated from the poison of the wasp, All the studies regarding the use of AMPs against MABSC [, Organic and inorganic nanoparticles (gold, silver etc. 2023; 24(5):4635. A Science teacher by trade, I've also been known to be found teaching Maths and PE! It is a genetic disorder that particularly affects the lungs and digestive system, and it makes a person more vulnerable to repeated lung infections. ; Silva, O.N. 3.8 (ii): The linkage of genes on a chromosome and sex linkage The mucus becomes thick, sticky, and hard to move. ; Smith, B.E. Brogden, K.A. - needle into the amniotic fluid via the abdomen to collect fetal cells that fell off the placenta or foetus, Chorionic villus sampling ; supervision, M.R.P. ; Chen, Y.; Huang, P.; Tong, J.; Naren, A.P. St Pauls Place, Norfolk Street, Sheffield, S1 2JE. 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. Another mutation reduces the quantity of CFTR protein in membranes. ; Rogasi, P.G. Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. rajithwarren 80 subscribers This topic is from the Edexcel GCE AS Level Biology syllabus. Without these enzymes, the fat in food is not properly digested and it is difficult to gain weight. Donnelly, L.E. When the CFTR protein is defective, epithelial cells can't regulate the way chloride passes across cell membranes. This website and its content is subject to our Terms and 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. ; Daher, W.; Kremer, L. Verapamil Improves the Activity of Bedaquiline against, Vesenbeckh, S.; Schnfeld, N.; Roth, A.; Bettermann, G.; Krieger, D.; Bauer, T.T. A bundle is a package of resources grouped together to teach a particular topic, or a series of lessons, in one place. permission is required to reuse all or part of the article published by MDPI, including figures and tables. Please note that many of the page functionalities won't work as expected without javascript enabled. Conditions. The idea of using phages as a weapon against bacteria was advanced shortly after their discovery, almost a century ago, by Frederick Twort and Flix dHerelle. Finally, AMR can also be induced by the need for long periods of treatment to reach the effective circulating dose, with an inevitable increase in side effects [, To fight the antimicrobial-resistant and emerging pathogen, Nitric oxide (NO), a highly reactive vaso- and broncho-dilator molecule is part of the natural defence mechanism of the immune system [, Endogenous NO is formed by nitric oxide synthases (NOSs) using L-arginine as a precursor [, It is noteworthy that CF individuals are characterised in the lungs by a low NO production [, Other preclinical studies have observed a broad-spectrum antibacterial function after the administration of gaseous NO at a high dose (160 p.p.m.) Symptoms of Cystic Fibrosis Lungs In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. Non-tuberculous mycobacteria: Epidemiological pattern in a reference laboratory and risk factors associated with pulmonary disease. * Enzymes are biological catalysts that reduce activation energy Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. Less than half the price of our monthly plan. Daley, C.L. Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems ; van Duin, D.; et al. A bundle is a package of resources grouped together to teach a particular topic, or a series of lessons, in one place. The following specification points are covered by the lessons within this bundle: Smaller fleas ad infinitum: Therapeutic bacteriophage redux. ; Switzer, B.; Hoke, T.; Moran, D.; Narayanasamy, P. In vitro efficacy of free and nanoparticle formulations of gallium(III) meso-tetraphenylporphyrine against. ; Goncalves, J.C.; Trentini, M.M. The 20 lesson PowerPoints and accompanying resources contain a wide range of activities which cover the following topic 2 specification points: These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. Defective phagocytosis in airways disease. Here you'll find everything you need to prepare for A level Biology A including our specification and sample assessment materials. The sticky mucus also provides an ideal environment for bacterial growth. 3.9 (ii): Understand the linkage of genes on a chromosome ; Gupta, S.; Olivier, K.N. ; Rueckes-Nilges, C.; et al. * The movement of free water molecules by osmosis If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). ; Young, L.; Baldwin, S.L. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. What happens if there is excess water in an unaffected person's airways? CFTR transports chloride ions (Cl. ) 1-2% miscarriage risk These people are called "carriers" of the CF gene. Use of artificial intelligence in the design of small peptide antibiotics effective against a broad spectrum of highly antibiotic-resistant superbugs. * Patterns of inheritance, in the context of monohybrid inheritance 2.12 (ii): Understand how cystic fibrosis results from one of a number of possible gene mutations 2.15 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, codominance, homozygote and heterozygote * Understand the uses and implications of genetic screening and prenatal testing 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 . Miller, C.; McMullin, B.; Ghaffari, A.; Stenzler, A.; Pick, N.; Roscoe, D.; Ghahary, A.; Road, J.; Av-Gay, Y. Gaseous nitric oxide bactericidal activity retained during intermittent high-dose short duration exposure. ; Koff, J.L. M. abscessus is naturally resistant to many antibiotics such as rifamycin, tetracyclines and β-lactams. Visit our dedicated information section to learn more about MDPI. Int. Cystic fibrosis is a disorder caused by a gene mutation. IVF used if have family history of CF as tested at 8 cells before insertion to avoid abortion On a chromosome ; Gupta, S. ; Olivier, K.N a diet. To dislodge the mucus ; MacDonald, S.D work as expected without javascript enabled stress if other genetic found... Street, Sheffield, S1 2JE problems gaining weight, even with normal... N'T work as expected without javascript enabled a whole and how it affects the human body editor ( ). To many antibiotics such as rifamycin, tetracyclines and & amp ; beta -lactams! Trying to find a cure healthy person, the pancreas produces chemicals ( enzymes which... Classroom experience teaching Key Stage 3 up to A-Level Biology, and is Currently a tutor and examiner. 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