Haemochromatosis Detection Essay -- essays research papers

HAEMOCHROMATOSIS DETECTION USING PCR-RFLP INTRODUCTION Hereditary Haemochromatosis (HH), first described in 1865, is a genetic disorder of metabolism, characterized by progressive iron overload resulting from abnormalities in intestinal iron absorption and or release of iron from reticuloendothelial cells . It is an autosomal recessive disorder, where the body accumulates excessive iron, which is deposited in a variety of organs. Iron cannot be excreted, thus, the excess builds to toxic levels in tissues of major organs such as the liver, heart, pituitary, thyroid, pancreas, lungs, and synovium (joints). These organs cease to function adequately and eventually become diseased. Serious illnesses such as diabetes, cirrhosis, hepatoma, hypogonadotrophic hypogonadism, cardiomyopathy and arthritis may be a consequence of this disease . It affects one in every three hundred Caucasians, and one in nine is a carrier , hence, making its early detection vital. The gene responsible for HH (HLA-H) was recently identified on the short arm of chromoso me 6 and is thought to be mainly caused by a mutation of a gene called HFE, which allows excess iron to be absorbed from the diet . This mutation is known as C282Y. A single point mutation occurs, in which the amino acid cysteine at position 282 changes to a tyrosine . To develop haemochromatosis two genes, one from each parent, are required to be C282Y. However, not everyone with the mutation may develop the disease and it may occur if only one C282Y gene is present (4). 77.5% of affected individuals have two copies of the C282Y mutation, one inherited from each parent, while about 4% have a single copy of the mutation and one normal HFE gene . First proposed in early 1970’s, Polymerase Chain Reaction (PCR) has been identified as a simple, robust, speedy, and most of all, flexible method that can be used to detect haemochromatosis . In this technique, specific DNA sequences are amplified for the detection of mutations that may be present, allowing early diagnosis of hereditary heamochromatosis (see figure 1). It is a major development in the analysis of DNA and RNA. The requirements of the reaction are simple, consisting of deoxynucleotides to provide both the energy and nucleosides for the synthesis of DNA, template, primer, DNA polymerase, and buffer containing magnesium . The crux of the PCR procedure involves three s... ...’Med J Aust. 2001 Oct 15;175(8):418-21(PubMed): http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11700835&dopt=Abstract 11 ‘DNA Testing for Hereditary Hemochromatosis’: Molecular Genetic Testing in Mainstream Medicine (Vol. 14: Spring, 1997) http://www.mostgene.org/gd/gdvol14c.htm 12 http://www.aiddiagnostika.com/english/kits/GenID/rdb_2045e_haemochromatosis.htm 13 http://www.mja.com.au/public/issues/179_10_171103/ger10460_fm-2.html 14 Marion K. Stott, Andrew P. Fellowes, Jeff D. Upton, Michael J. Burt and Peter M. Georgea : ‘Simple Multiplex PCR for the Simultaneous Detection of the C282Y and H63D Hemochromatosis (HFE) Gene Mutations’ http://www.clinchem.org/cgi/content/full/45/3/426 15 http://bip.weizmann.ac.il/mb/bioguide/pcr/PCRwhat.html 16 http://allserv.rug.ac.be/~avierstr/principles/pcr.html 17 Alka Dwivedi, B.C. Sarin, Dev Mittar, P.K. Sehajpal: (2003) ‘Optimization of 38kDA based PCR assay for detection of mycobacterium tuberculosis from clinical samples’ 18 McPherson, M.J.(Author). ‘PCR’. - Oxford, , GBR: BIOS Scientific Publishers Ltd, 2000. p 70. http://site.ebrary.com/lib/utslibrary/Doc?id=5000324&page=82

Hip Replacement

BSN-3B1 Critical Thinking Exercise Nursing Management of the Client with Total Hip Replacement Situation: A 72-year-old male client is being discharged home from the hospital following hip replacement surgery. In addition to the prevention of other complications, the staff has made every effort to prevent deep vein thrombosis and pulmonary embolism: the two most common causes of postoperative mortality in older clients. Prior to discharge, the nurse gives the client a list of instructions for positioning, sitting, and ambulating at home.The client is also instructed to use a walker or crutches until weight bearing is safe, and to employ adaptive devices for everyday activities. Finally, the client is advised to watch for any signs of hip prosthesis loosening or dislocation, and to call the surgeon immediately if such signs occur. 1. What are the signs and symptoms of deep vein thrombosis and pulmonary embolism? Deep Vein Thrombosis * Swelling of the leg or along a vein in the leg * P ain or tenderness in the leg, which you may feel only when standing or walking * Increased warmth in the area of the leg that's swollen or painful * Red or discolored skin on the legPulmonary Embolism * Unexplained sudden onset of shortness of breath * Chest pain or discomfort that worsens when you take a deep breath or when you cough * Feeling lightheaded or dizzy, or fainting * Rapid pulse * Sweating * Coughing up blood * A sense of anxiety or nervousness 2. What types of adaptive equipment is available for clients who have undergone hip replacement surgery? Adaptive equipment to help in daily activities: * Reaching – use a reacher in getting items from cabinets or off the floor. Do not bend over to pick up something from the floor. Dressing – since you are not to bend past 90 degrees, use adaptive devices to be as independent as you can when dressing. -Wear slip-on shoes or use elastic shoelaces so you will not have to bend over to tie your shoes. -A long-handled sh oe horn will help you put shoes on or take stockings and socks off. -A dressing stick may be used to put on pants. * Use the hook to catch the waist of underwear or pants. * Place your operative leg first in the pants when dressing, and take it outlast when undressing. * Pull the slacks up over your knees. * Stand with the walker in front of you and pull your slacks up. Socks and Stockings – a stocking aid will make it easier to put on socks or stockings. Elastic stockings may be ordered for you. * Slide the sock or stocking onto the stocking aid. Be sure the heel is at the back of the plastic and the toe is tight against the end. * Secure the sock in place with the notches on the plastic piece. Do not pull the top of the sock over the top of the plastic piece. * Holding onto the cords, drop the stocking aid out in front of the operated foot. * Slip your foot into the sock and pull it on. * Release the sock from the notches on the plastic piece using your dressing stick or re acher. To take the stocking or sock off, use the hook on the dressing stick or reacher to hook the back of the heel and push the sock off your foot. * Using the Bathroom * A raised toilet seat may be helpful to you at home. It will keep you from bending too far when sitting or standing. The higher seat also makes it easier to stand up from the toilet. * Clean yourself after toileting as you are used to, just be careful not to bend too far forward or twist too much at the hip. * Bathing – unless you have a walk-in shower, you will have to learn a new method for getting in and out of the bathtub.Do not sit down into the tub for 6 to 12 weeks. * If possible, have someone help you the first time you bathe at home. * You may sponge bathe until you are comfortable or have help to shower. * If you have a walk-in shower, you may stand and shower as long as you feel steady and balanced. * If you have a tub shower and need to sit to bathe, you will need a shower bench. Make sure the sh ower bench is placed firmly in the tub. Have someone adjust the height of the shower bench so it is as tall as it can be to allow you to rest your feet comfortably on the floor of the tub when you are sitting. Have someone put non-skid strips or pads in your bathtub for safety. * Have a secure place to put your soap to avoid dropping it. Try soap on a rope or a deep soap dish. These items are sold at many department stores. * Use a long-handled sponge or bath brush to reach your lower legs and feet without bending more than 90 degrees at your hips. * A portable shower hose may be helpful. * Turn on cold water first to avoid burning yourself. * Getting In and Out of Bed * You will get in and out of bed on the same side as you had surgery. A hospital bed may be needed at home. Your physical therapist, nurse and case manager will talk withyou about this if needed. * Some people find it helpful to wear pajamas made of silky materials to help them slide more easily on the sheets. * You w ill need someone to carry youroperative leg as you use your arms and non-operative leg to scoot yourself in and out of bed. * Sitting – use a hip cushion to help you sit safely and not break your hip precautions. The cushion adds height to help keep your knees lower than your operative hip when you are sitting.It also may make it easier for you to stand up. If you are not sure about the height of a chair, put your cushion on it to be safe. * Getting Into a Car – it is important to know how to get into the car in a safe manner. It is better for you to ride in a mid-size or large car with regular bench seats rather than bucket seats. Use a thick pillow or cushion. On a long trip, be sure to make frequent rest stops, about every 30 minutes. Get out and shift your weight from one leg to the other or walk around. The best choice after a total hip replacement is to ride in the back seat . What are the signs of prosthetic hip dislocation and how can this problem be prevented? * Hip Pain * Uneven Leg Lengths * Numbness Acute phase complications -sciatic nerve damage -inability to perform closed reduction – recurring dislocation Recovery phase complications -avascular necrosis -arthritis, chondrolysis -myositis ossificans Precautions: -Do not cross your legs at the knees. -Do not twist at the hip. -Do not bend your hip past 90 degrees. (This means you are not to bend over at your waist or lift your knee higher than your hip if you are sitting)

The Term Subculture - Free Essay Example

Sample details Pages: 3 Words: 832 Downloads: 10 Date added: 2019/10/30 Category Culture Essay Level High school Tags: Subculture Essay Did you like this example? What do we mean by the term subculture? Paul Hodkinson gives us a really broad definition in his book: ‘Goth : Identity, Style and Subculture’ as he says: â€Å"Acquisition of status within the subculture entailed being labelled and, hence, excluded from the rest of society, something the group would respond to through its own hostility to outsiders, to the extent that non-conformity with dominant norms often became virtuous. As the subculture became more substantive, distinctive and independent, members would become increasingly dependent on each other for social contact and validation of their beliefs and way of life.† (Hodkinson, Paul. Goth: Identity, Style and Subculture, Bloomsbury Publishing, 2002. Don’t waste time! Our writers will create an original "The Term Subculture" essay for you Create order ProQuest Ebook Central). For decades there have been a lot of theories and a lot of opinions on what is right and what is wrong. As he states in his book there are several schools that stand out the most in terms of subculture. One of them, in fact, is the Birmingham School. Mostly know from a neo-Marxist perspective, it’s mostly looked at from the position of the working-class young generation, in relation to the social culture of the 1960s and 1970s in Britain. It is built on the resistance of young people having the traditional values and believes of their parents and creating the modern hegemonic culture of consumption that is dominated by the media and trends. Knowingly forming these subcultures that are characterized by parlance and ritual, although the youth maintained their aspects of the working-class culture, that didn’t stop them from embracing the decadent consumption and insistence on taste and style reflecting their position within capitalist society. Although their consumption, unlike the general public’s, by the youths subcultural context it’s deemed for them to be characterized by everyday objects and new subversive meanings. Looking at the approach of The Birmingham School, there is a lot of neglect of countenances such as diversity, external overlay, individuality between subcultures and identified instability of the groups. As well looking at the schools neo-Marxist view as an instinctive response to the structural contradictions, more importantly, underestimating the positivity of media and business in the development of such groupings. As it’s well known one of the most significant things that the subculture has is their authentic style and most clothing and music. The birth of goth was around the first half of the 1980s, specifically in Britain there were a lot of sounds and images based on the post-punk climate that it became a definite movement. As its known there are a lot of various factors that were involved insignificance of goth but music has always been the base of the subculture. One of the significant bands at the time has been Siouxsie and the Banshees as it took a bit of the theme of punk the genre provided general mood and sounds that would be drawn of for the following decades. The vocalist of the band had a really big part of the initial style of the goth’s in that time period. The outrageous at the time Nazi imagery that was advertised seemed politically provocative, with the ‘dark’ distinguishing image that she was pursuing with her black backcombed hair and really heavy dark eye make-up, the lips as well. That particular look would be imitated by females and male goths for the following two decades. However, the most important point of goth, was probably the band Bauhaus with their single ‘Bela Lugosi ’ s Dead ’ particularly the performance of the song, and a lot of their set, had most of the distinctive elements that until this day they exist in the still the goth scene, from the funereal musical tone to the lyrical references for death, from the deep vocals to a twisted form of androgyny in the band’s appearances. Associating themselves with not only the band but other particular listeners of the same typ e of music. The start of a subculture and resistance against the capitalistic society and its rules. Knowing the importance of clothing and asserorizing in the goth world: ‘The selection, purchase and consumption of particular kinds of subcultural goods, most notably recorded music, clothing and accessories, was a key element in participants’ experience of the goth scene. To a significant extent, it was through ownership and use of consumer goods that goths claimed their subcultural capital, differentiating themselves subtly from one another and more overtly from groupings and individuals outside the subculture. Collections of commodities provided the material manifestation of the subculture ’ s distinctive range of tastes. The process through which individuals developed their subcultural ‘ look ’ and enhanced their knowledge and appreciation of music revolved around selecting, purchasing, combining and using particular kinds of object, as did the consistency and distinctiveness of the goth style as a whole. Furthermore, as well as being crucial as a means to an end, the act of shopping was often an important subcultural activity in itself (see McRobbie 1989: 24; Shields 1992a: 5).’(Hodkinson, Paul. Goth : Identity, Style and Subculture, Bloomsbury Publishing, 2002. ProQuest Ebook Central).