Pathophysiology of Huntington Disease

Pathophysiology of Huntington Disease George Huntington first described Huntington Disease in 1872 as coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self (Visser, 2010). Huntington disease is an inherited genetic disorder, which causes the progressive degeneration of selected nerve cells in the brain. This degeneration of nerve cells results in impairment of both mental capability and physical control which results in death (Visser, 2010). This essay will look at the pathophysiology of Huntington disease in relation to the possible signs and symptoms. While also identifying the risk factors and examining the relevant tests available with regards to screening, diagnosing and monitoring treatment within New Zealand. It will then further explore the treatment options available in New Zealand and treatment developments worldwide. Pathophysiology of Huntington disease in relation to signs and symptoms Huntington disease is caused by a genetic fault in a small section located on chromosome 4, which encodes a protein called Huntington (Porth, 2011). However, the function of the Huntington protein is still unknown, yet this protein appears to be important to neurons in the brain (Visser, 2010). This genetic fault results in a segment of DNA, known as a CAG trinucleotide repeat, this segment of DNA is made up of a series of DNA building blocks cytosine, adenine and guanine that appear multiple times in a row (Visser, 2010). The normal copy of this gene contains 6 to 35 copies of the trinucleotide repeat, compared to the faulty gene which contains 40 to 120 copies of the trinucleotide repeat resulting in this gene producing an expansion of Huntington’s gene (Porth, 2011). The larger number of trinucleotide repeats is generally associated with an earlier onset of Huntington’s’ disease. This is shown as adults with Huntington’s disease generally have 40-50 tri nucleotide repeats where people with the juvenile form of this disorder tend to have more than 50 trinucleotide repeats (Visser, 2010). Also, Visser (2010) suggests that due to the elongation of the CAG trinucleotide segment, the segment gains a toxic function that disrupts the normal function of neurons and eventually leads to the death of neurons. Cells are known as building blocks of life that use energy to carry out biological functions, while also producing oxidants that can potentially damage themselves; Yet, these cells can make such chemicals harmless (Visser, 2010). Current studies suggests that the protein Huntington somehow prevents the brain cells from protecting themselves against the toxic chemicals which results in Huntington’s disease causing the localized death of brain and spinal cord cells (Porth, 2011). Basal ganglia are the first neurons to be affected by Huntington disease; these neurons are associated with a variety of functions that modulate motor movements, emotions, cognitive and learning abilities (Porth, 2011). Therefore the deteriation of basal ganglia results in many symptoms which commonly occur around 35 and 55 years of age, however these symptoms will progressively get worse which results in the individual passing away in around 10-20 years (Porth, 2011). There are early signs and symptoms of Huntington disease which include uncontrolled muscular movements, memory problems and mood changes (Visser, 2010). Yet, these symptoms quickly develop into serious motor impairment conditions such as eye movement disorders, spasticity, dysphagia, dysarthria, myoclonus, and the main impairment chorea which involves rapid, jerking movements that the individual has no control over (Porth, 2011). As Huntington disease develops it results in a cognitive decline, mental slowing which is the inability to remember people and to make decisions for oneself (Porth, 2011). This can all eventually lead to dementia. There are many factors that influence behavioural symptoms which include stress about the disease, family relationships, and as the pathways through the basal ganglia become disconnected which results in a loss of frontal lobe functions (Visser, 2010). The major behavioural symptom is depression with 30% of individuals with Huntington disease exper iencing major depressive or dysthymic disorders and 6% resulting in suicide (Porth, 2011). Other behavioural symptoms such as personality changes results in the individual appearing to have no interest in life or the individual having increased anger and irritability which further links to impulsive actions and violence, these actions can cause stress in relationships between family members (Visser, 2010). Risk Factors of Huntington disease Everyone receives two copies of each gene which are singularly known as alleles, one from each parent, that are present in all cells of the body (Lemiere, 2004). Therefore most individuals are born with two normal copies of each allele (Lemiere, 2004). However in the case of hereditary disorders specifically Huntington’s disease, an individual is born with one normal gene and a gene defect which is called a mutation (Lemiere, 2004). Huntington disease has an autosomal dominant inheritance pattern which means that a child of a parent who carries the mutation has a 50% chance of inheriting the mutation (Frank, 2014). If the child inherits the mutation the child will develop Huntington’s disease some point in the individual’s life, and can also pass it on to their children. But if the individual does not inherit the mutation then they cannot pass it on to their children (Frank, 2014). Yet, there are also rare cases where individuals develop Huntington’s disea se, without a family history of the condition (Visser, 2010). This generally happens because of a genetic mutation during the father’s sperm development (Visser, 2010). However, there is a process where fertilized embryos can be tested for Huntington’s disease prior to the embryos being implanted within a mother’s womb called pre-implantation genetic diagnosis (Christian, 2007). This technique allows the parent that carries the Huntington’s disease to avoid passing the genetic condition to their children (Christian, 2007). Pre-implantation genetic diagnosis is completed through in-vitro fertilization (IVF) where the mother’s egg is fertilized with the father’s sperm outside the body (Christian, 2007). The eggs then develop into embryos, after three days of being cultured in the laboratory the technique of embryo biopsy is performed, this test checks the embryo for the Huntington’s disease and therefore all the embryos are then implanted back into the mother (Christian, 2007). New Zealand has been ethically approved for pre-implantation genetic diagnosis however this is only under special circumstances (Chris tian, 2007). The government only funds pre-implantation genetic diagnosis for 40 couples a year with one single attempt at pregnancy; this funding includes all serious genetic conditions (Christian, 2007). Relevant diagnostic, screening and monitoring tests in New Zealand Genetic tests are an example of a diagnostic as it is a procedure performed that establishes if an individual has the presence or absence of Huntington’s disease (Lyon, 2013). Individuals that have symptomatic symptoms of Huntington’s disease may be recommended by health care professionals to undertake a genetic test for the faulty Huntington gene (Visser, 2010). However, there is also predictive DNA testing which is for asymptomatic individuals with a 50% chance of developing Huntington’s disease, these individuals are tested to see if they will be affected or not by the faulty gene in adulthood (Visser, 2010). Both of these genetic tests are accomplished in the same way and can be done in Auckland laboratory (Lyon, 2013). Genetic testing is done by DNA being extracted from the individual’s blood sample, and then the DNA being purified (Lyon, 2013). A technique called polymerase chain reaction is then implicated to locate the two Huntington genes, once fo und millions of exact copies are made for further analysis (Lyon, 2013). This further analysing is when the DNA is sorted by size to determine the number of CAG repeats in each gene. The three outcomes to the test are based on the CAG repeats (Lyon, 2013). If an individual receives a negative test it means the CAG repeat size is 30 or less and therefore the individual is not at risk of developing Huntingtons disease, but if an individual receives a positive test it means the CAG repeat size is 40 or more and the individual will develop Huntington’s disease generally in adulthood (Lyon, 2013). However if an individual receives uninformative it mean the CAG repeat is in the immediate range between 31-39 and is unclear if the individual will develop Huntington’s disease (Lyon, 2013). Other tests available are known as screening this is where a series of tests are used to predict the presence of disease in individuals at risk (Lemiere, 2004). These tests include neurological examinations, along with structural and functional imaging. Neurological examinations are performed by a neurologist, which intensively interviews an individual to obtain the medical history and rule out other possible medical conditions (Lemiere, 2004). Some key aspects neurologists use to identify Huntington’s disease include taking a family history as Huntington disease is an inherited disorder and taking note of reflexes, muscle strength and eye movements as some of the earliest manifestations of the disease are â€Å"subtle chorea, eye movement and fine motor abnormalities† (Lemiere, 2004). However, Lemiere (2004) suggests that the Huntington gene defect may influence brain function and behaviour during asymptomatic years, this research has been conducted using presymptomati c individuals who have a positive gene defect. These individuals had a volume reduction of â€Å"30.9% for the caudate, 29.3% for the globus pallidus and 25.7% for the putamen† (Lemiere, 2004) compared to individuals with a negative gene defect from offspring of Huntington disease patients (Lemiere, 2004). This research shows that the decline of basal ganglia occurs gradually before the onset of Huntington disease symptoms (Lemiere, 2004). Therefore healthcare professionals can use MRI and CT scans of the brain to help determine if patients have Huntington’s disease (Lemiere, 2004). The monitoring of treatment is extremely important in Huntington’s disease and dependently relies on the motor, behavioural and cognitive aspects of the individual (Frank, 2014). After the onset of Huntington disease the individuals’ functional abilities gradually worsen over time due to the Huntington gene mutation that causes a localized death of neurons which helped to regulate the motor movements, emotional and cognitive abilities (Frank, 2014). The loss of these abilities requires the individual to seek help for all activities of daily care, yet later in the disease the individual will be confined to a bed with the inability to speak (Frank, 2014). This gradual decline of the individuals’ condition makes it important for health care professional to monitor the individuals’ treatments and adjust the treatment accordingly to the disease progress (Frank, 2014). Further, the drugs used in treatment of Huntington’s disease has the potential to cause significant side effects that can worsen symptoms of the disease (Frank, 2014). Therefore it is critically important for health care professionals to monitor the risk- benefit ratio effect the treatment has on an individual (Frank, 2014). Treatment available in New Zealand and further treatment developments worldwide Currently, there is no cure for Huntington disease, but medications, psychotherapy, speech and physical therapy can be implemented to help minimize symptoms while also allowing the individual to adapt to their condition (Frank, 2014). Medications to help treat movement disorders in New Zealand include Xenazine this medication helps to suppress chorea, but has possible side effects of aggravating depression (Frank, 2014). Also, the use of certain antipsychotic drugs such as haloperidol and clozapine can help alleviate choreic movements and further controlling hallucinations and violent outbursts, but the possible side effects can worsen dystonia and muscle rigidity (Frank, 2014). Due to the loss of frontal lobe functions as an effect of the disease, there needs to be increased psychiatric support for individuals with Huntington’s disease (Visser, 2010). This support can come from medications that support depression such as antidepressants which include fluoxetine, sertraline and esctislopram (Frank, 2014). This treatment of depression can further help to improve the symptoms of sleep disturbance, social withdrawal and lack of interest in general life (Frank, 2014). However, using antidepressants can include the side effects of insomnia, diarrhoea, nausea and sexual problems (Frank, 2014). Other medications to help individuals can be antipsychotic and mood stabilizing drugs which help to supress violent outbursts, highs and low mood swings, the common side effects of these medications include weight gain, tremor and gastrointestinal problems (Frank, 2014). Psychologists can provide talking therapy for an individual with Huntington disease, this therapy allows the individual to understanding the conditions effects, while further discussing the problems and feeling the individual has (Frank, 2014). Such problems the individual could be concerned about are talking, eating and swallowing this is because Huntington disease impairs the control of muscles of the mouth and throat (Frank, 2014). A speech therapist can address these issues and improve the individual’s ability of communication by implementation communication devices (Frank, 2014). Physical therapy is also an important part of Huntington disease as the exercises provide help improve strength, balance and coordination, which further results in the individual maintain mobility for as long as possible and minimizing the possible falls (Frank, 2014). Even though there is no treatment the research field is still dynamic there are a high number of on-going or recently completed studies in relation to Huntington disease (Frank, 2014). Also, in the USA there has been a break through approach called gene-silencing (Carrol, 2013). This approach relies on the fact that DNA is not directly copied from the protein, but is made up from a chemical RNA first; this RNA message is chopped up and thereby stops the cell making the Huntington protein (Carrol, 2013). Although this approach does not stop the individual from carrying the Huntington disease and, therefore the individual can still pass the gene on, this approach stops making the protein that attacks the brain cells (Carrol, 2013). Another breakthrough development happened in the UK this is of a tool called CRISPR (clustered regularly interspaced short palindromic repeats) that targets and cuts out specific small pieces of RNA (Carrol, 2013). This tool is used in the approach genome ed iting. This approach is different to gene silencing as it corrects the defect, which results in the individual not having the genetic defect and therefore produce babies without Huntington disease (Carrol, 2013).

Computerized Manufacturing :: essays research papers fc

Computerized Manufacturing Systems Historical manufacturing and accounting management systems did not provide data for effective development of a production schedule or supply chain management. (6) Companies did not have the ability to measure inventory, workflow process, labor and production efficiently or accurately. With the progression of automation and the revolution of the desktop computer accompanied by developing software companies are now able to use computerized manufacturing systems to record and maintain accurate data and management all aspects of the accounting and manufacturing process. (2) This paper will discuss the development of automation and computerized manufacturing systems and specifically the ERP solution. Manufacturing systems were initially managed by abstract calculations or simulators designed to produce theoretical results and measure manufacturing schedules. These methods were very time consuming and cost effective. The job of a manufacturing organization was broken down into various development phases. (1) These phases include the following: Table (1): Operation: The task to be performed in the manufacturing job shop Processing Time: The amount of time required to process the operation (in most cases sets up times are independent of operation relations and are included in processing time) Job: The set of operations that are interrelated by procedure constraints derived from technological restrictions. Machine: The piece of equipment (a device or a facility) capable of performing an operation. Release Time: The time in which the job is released to the shop floor, it is the earliest time at which the first operation of the job can begin processing. Due Date: The time by which the last operation of the job should be completed. Completion Time: The time at which processing of the last operation of the job is complete. Schedule: Specification of execution of each operation on a particular machine at a specific time. A feasible schedule is a schedule that observes all problem constraints. These phases would usually be done manually and line managers would measure the process.(1) These measurements would be dependent on variable for example, sick time, employee production and employee motivation.(1) Although these steps are similar today these variables have been greatly removed from the manufacturing process through automation and more efficient production data and scheduling tools available.(1) Another method for developing manufacturing schedules was through the use of simulators. One of the original programming languages, "Fortran" was used as a tool for planning departments.(5) The planning team would use Fortran to construct simulation models for various industries, however one of the primary uses for these models was in manufacturing and process control.

No Man’s Land Essay

I tiptoe through the night, scared for even my sweat to make the slightest noise as it drips off my face and onto the ground. I am not thinking of anything at the moment but my survival and how my life will be once I am free of the Soviet grip around my wrists. My heart feels like it is breaking through my ribs and protruding out of my chest with every breath I take as I run faster and faster towards the barrier that has incarcerated me over the years. As I throw myself over the eleven-foot concrete wall with barbed wire at the top, I can hear gunshots all around, and I pray they are not intended for me. I hit the cold, hard ground on the other side, but I am not even close to being safe any time soon. I am in no mans land now. I would be better off asking for someone to shoot me than to make it out of here alive. I have only one chance. At least that is how I imagined it would have been like if I were in trapped in the tribulations of East Berlin trying to escape into the desired West Berlin between 1961 and 1989. However, it is a gray December day in 2004, and if it weren’t for remains of the Iron Curtain and Checkpoint Charlie, people would not be able to relive that part of history or be reminded of the dictator that destroyed so many lives. The temperature was eight degrees Celsius as the gloomy sky attempted to cough up snow onto Berlin. Before that moment I had only heard of the Berlin Wall through history books and stories. I would sit and listen to travelers tales told by my courageous father who had walked through Checkpoint Charlie and into East Berlin in seventy-five. He told me how he had to exchange West Berlin money into East Berlin money at Checkpoint Charlie before entering East Berlin. Then going back into West Berlin he had to drop it in a rusty tin can at Check Point Charlie because you were not allowed to keep East Berlin money. He witnessed two tourists getting assaulted by the guards for trying to smuggle East Berlin money into West Berlin. My only expectations of Berlin came from the adventures of my dad. I expected Checkpoint Charlie to be a barricade miles long with tollbooths that have the arms that swing up and down. Similar to the tollbooths that run across the freeways of really large cities, or at the airports you go through after short-term parking. Once you pass through the chomping arms of the tollbooths I imagined East Berlin to be scattered with desolate buildings and run down streets. But as I approached the once controlling wall and Checkpoint Charlie I realized nothing was as I imagined it at all. It was like walking down any other street in a big city. A few people who were always pushing their way through the gaps that opened up between the wandering men and women, obviously in more of a hurry than anyone else on the street. Christmas lights clung to the tall buildings that ran down the streets of Berlin. People popped in and out of the busy stores, squeezing their last bit of Christmas shopping in before the Holiday. Suddenly the bustle of people slowed like a murmur in time as I stood right before the Berlin Wall and Checkpoint Charlie which are now surrounded by the commercial buildings of downtown Berlin. My gaze dropped to an engraved brick in the ground that now serves as a commemorative plaque for the Berlin Wall. A chill ran from the tip of my toes all the way to the ends of my hair as I realized how lucky I was to be standing right there in no mans land. I can now speak of the Berlin Wall, not as hearsay from a history book, but as a memory. No mans land, a memorial now, is where 171 people who attempted to escape into West Berlin were shot, and left to bleed to death like a deer on the side of the road. This area contained walls on either side with mines and stern East Berlin guards to make it almost impossible to escape. As I stood in the middle of no mans land facing East Berlin, I looked over my left and my right shoulders only to see black, wooden crosses a little taller than I am. The crosses looked as if snow had only given them the pleasure of its company and nothing else around them, when really it was just white sand covering the ground. I took a deep breath in as if I was trying to swallow it into my memory, making sure to keep it forever. I am motionless. Where the median strip of the road would have been, an American soldier’s somber picture was enlarged and hoisted up on a pole staring out towards West Berlin. On the opposite side was a Russian Soldier keeping close watch over East Berlin. Below the soldiers’ pictures was Checkpoint Charlie. Wilted flowers surrounded this one room shack that once controlled the passage of people from East to West Berlin. Now it also stands as a memorial for people who died crossing over into West Berlin. On either side of me, there were remains of the wall still standing. I got an eerie feeling as I stared at them. My sense of time was completely altered. There I stood at one of the most historical sites imagining what it would have been like to be boxed in by a concrete wall that was suffocating you more and more each day. But when I looked around I was in the middle of one of the largest cities in Germany. It was like time slowed when I was walking through no mans land, but everything else around no mans land and Checkpoint Charlie was full of life. I was in my own little bubble. I walked about a block and returned to the normal noises and the packed sidewalks of what use to be the Soviet controlled East Berlin. My view of Berlin has been altered for the better, with a greater understanding of the saying â€Å"seeing is believing.†

Criminal Gangs A Qualitative Research - 2461 Words

Experiment Gangs Abstract Criminal gangs are there to rule, they have been there in every community for a long time. Gangs intentions are to commit crimes. Gang leaders oversee extortion, order killings or smuggle drugs. This paper studies gang formation, why individuals join gangs and the negative influence gangs have to the society and the economy. The study focuses on some of the prominent gangs in the world today; it explains the activities of the Russian mafia and other gangs. This paper explains power struggles within gangs and gives out recommendations to solve problems associated with gang operations. This paper puts into perspective a study on factors influencing gang membership; the study employs personal interviews as a method, causal research design and ordinal scale of measurement. Prisoners in California state prison are the sample population. Structured proxy question are used, and observation to study an individuals race. The study focuses male prison gang members. Findings from the study indi cate that the less educated an individual is the likely for one join a gang, from the study it is evident that gang members feel disregarded when formulating policies, it is clear that race is not a factor to gang membership and that most of the gang members come from dysfunctional families. Introduction A gang is a group of individuals closely associated. This group is in the form of an organization whose members report to a leader who controls activities withinShow MoreRelatedThe Role of Law Enforcement in Curbing Gang Violence1041 Words   |  4 PagesBackground: Most research shows that the public believes that law enforcements major goal in many urban and suburban areas is to prevent gang activity. Gang activity is certainly not a new phenomenon, but has been part of human history since Ancient Times (Rome, Greece, the Middle Ages, etc.). 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