Cystic Fibrosis A Common Fatal Recessive Genetic Disease

What is Cystic Fibrosis? Dr. Polit describes Cystic Fibrosis, also referred to as CF, the most common fatal recessive genetic disease among white people. It is a hereditary disorder, also known as mucoviscidosis, which disturbs the lungs, as well as the digestive system, by blockage due to the creation of abnormally thick mucus. According to the U.S. National Library of Medicine, â€Å"This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation†. Due to the buildup and infections, scar tissue forms as well as lung cysts causing permanent lung damage. It is also very common for those with cystic fibrosis to suffer from digestive problems because of the blockages caused by thick, sticky mucus in the body. In the United States there are close to thirty - thousand people and seventy thousand people worldwide living with Cystic Fibrosis today, with the majority of them being over the age of eighteen. CF has over eighteen-thousand mutations, but most of the tests can’t always pick up on them, only the more common mutations of CF. By the age of two, over seventy-five percent of kids containing CF are diagnosed, making over one-thousand new cases of Cystic Fibrosis diagnosed every year. Cystic Fibrosis is caused when both the parents of the child have the CF genes which is why it is a recessive genetic disorder. Thus making it something that isn’tShow MoreRelatedCauses And Treatment Of Cystic Fibrosis1549 Words   |  7 Pagescarrier of Cystic Fibrosis and had a brother who had the disease. Carlos would like Mollie to get test for Cystic Fibrosis before having a child. Mollie is unsure about being tested but agreed to think about it. Cystic Fibrosis affects over 50,000 people in the United States, Canada and Europe (3). One in every twenty Americans are carriers of Cystic Fibrosis, approximately twelve million people are unaware they are carriers (3). Cystic Fibrosis is autosomal recessive inherited disease that causesRead MoreThe Disease Of Cystic Fibrosis1551 Words   |  7 Pagespaper is going to be on the disease Cystic Fibrosis. Before I begin I want to explain a little background as to why I chose this topic. My brother in law’s brother lost his life at the age of 23 to this disease and it was extremely harsh for the family, even knowing this disease is incurable. It’s one of those rare diseases that we cannot cure as of yet but many doctors do research on how to overcome this. Just like any other incurable disease. What is Cystic Fibrosis? The name of it can be brokenRead More Cystic Fibrosis Essay1129 Words   |  5 Pages Cystic Fibrosis is a severe hereditary disease that infects the lungs, digestive system, sweat glands and male fertility. The name Cystic Fibrosis derives from the Fibrous scar tissue that develops in the pancreas. First recognized in 1938, cystic fibrosis is generalized as an autosomal recessive disorder of the exocrine glands. About one in every 2500 Caucasians is affected, and one in 25 is a carrier of the cystic fibrosis gene. Cystic fibrosis is the most common fatal hereditaryRead MoreCystic Fibrosis : An Autosomal Recessive Disease Essay2025 Words   |  9 PagesCystic fibrosis (CF) is an autosomal recessive disease that affects the cystic fibrosis trans membrane conductance regulator (CFTR) gene located on Chromosome 7, in a persons DNA. Autosomal means that the gene for CF is not carried on the sex chromosomes and both male and females are affected by the mutation. The disease is a recessive disease meaning that it requires 2 abnormal genes to be expressed; only one gene would mean that the person is a carrier of the disease. This is because the normalRead MoreThe Common And Fatal Genetic Disease3665 Words   |  15 PagesCystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who areRead MoreEssay on Cystic Fibrosis and Gene Therapy2215 Words   |  9 PagesCystic Fibrosis and Gene Therapy The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Lets take a look at some details of Cystic Fibrosis and gene therapy. Technical Aspects Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States todayRead MoreCan genetic diseases like Cystic Fibrosis, Haemophilia and Muscle Dystrophy be cured using Gene1600 Words   |  7 PagesCan genetic diseases like Cystic Fibrosis, Haemophilia and Muscle Dystrophy be cured using Gene Therapy? Genetic diseases and Gene Therapy: Genetic diseases are pathological diseases caused by the absence or alteration of one or several genes in the cells of an organism. Most genetic diseases are caused by the inheritance of an altered or missing gene from either one or both of your parents. Because the altered gene is in every cell in your body, including your stem cells, it is practically impossibleRead MoreNotes On Cystic Fibrosis ( Cf )1869 Words   |  8 PagesManuel Alberto Tello Garibay Biology 181 Tuesday/Thursday Cystic Fibrosis Cystic Fibrosis (CF) is a disorder that is passed down from parent to child, which primarily occurs in the Secretory gland, this is the part of the human body that produces mucus. This by all mean does not indicate that the parents are affected, but instead states that they are carriers of this disorder. This is the reason why CF is said to be a recessive trait as oppose to a dominant trait. The main affected areasRead MoreCystic Fibrosis Essay2332 Words   |  10 Pagesdownward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is cystic fibrosis. Cystic fibrosis is a particularly fatal disease, it affectsRead More Human Gene Therapy Essay1917 Words   |  8 PagesHuman Gene Therapy Deoxyribonucleic acid (DNA) was discovered in 1944 by Avery and colleagues. Avery identified DNA as the primary genetic material. Watson and Crick later discovered the double helix structure of DNA. Leder and co-workers deciphered the triple nucleotide code that designated the amino acids from which proteins were built. The science of molecular biology was born (Sokol, Gewirtz, 1996). In 1990 a four year old girl who was suffering from severe combined immunodeficiency (SCID)

Cognitive Development During Early Childhood Development

Cognitive Development Children of involved fathers are also more likely to live in cognitively encouraging homes. Cognitive Development is a field of study in neuroscience and psychology, focusing on a children’s development in terms of information processing, conceptual resources, perceptual skill, language learning, and other aspects of brain development and cognitive psychology compared to an adult’s point of view(Schacter, Daniel L, 2009). Even a child’s cognitive development during early childhood, which includes building skills such as pre-reading, language, vocabulary, and numeracy. So cognitive development is important to grow those skills (Rohner, R. P., Veneziano, R. A., 2001). This development is a strong connection between the development children undergoes early in their life and the success that the children will experience later in life. Infants of highly involved fathers, as measured by amount of integration, including higher levels of play and Caregiving activities. By one year they continue to have higher cognitive functioning are better problem solvers as toddlers and have higher IQ’s by age three (Yogman Kidlan, Earls, 1995). The father is more encouraged toddlers to talk more, use more diverse vocabulary, and produce longer utterances when interacting with their fathers, because toddlers are characterized by more wh-(e.g. â€Å"what†, â€Å"where† etc.) questions for father than mother (Rowe, Cocker Pan ,2004). A father’s academic support was positivelyShow MoreRelatedChildhood Development Essay946 Words   |  4 PagesChildhood begins a new era of development, one that is filled with exploration and a new understanding of the world. Children are finally beginning to understand aspects of their environment that they were unable to comprehend during infancy. While development during childhood occurs less rapidly than that which is experienced during infancy, there are still many major changes that children go t hrough during this time. During childhood, children experience physical and cognitive growth, create newRead MoreThe Laws Regarding Corporal Punishment1704 Words   |  7 Pages p. 459-460). This paper will analyze the laws regarding corporal punishment in many countries, the developmental theories such as the behavioral cognitive, and sociocultural in the context of corporal punishment as well as the harmful effects of corporal punishment on the physical, cognitive, and psychosocial development of children in early childhood which ranges from two to six years of age. In many countries such as China, corporal punishment represents an acceptable and necessaryRead MorePersonal Human Growth And Development Timeline944 Words   |  4 Pages Personal Human growth and development timeline Going through this class and learning about each of the different phases was interesting. To go through and see which ones I have personally experienced. When we started to get in late adulthood it was slightly depressing thinking about growing old and the factor of death. Each part of our development we go through will mater when we reach that point in our lives if you think about it in that context. That’s why it is important to know yourRead MorePsychology1413 Words   |  6 Pages------------------------------------------------- ------------------------------------------------- Childhood to Adolescence Development ------------------------------------------------- Monica Rodriguez-Sosa ------------------------------------------------- University of Houston – Downtown Introduction As we age and grow in life, we constantly change in many different aspects. It is natural for humans to develop new ways of thinking, being, and feeling. At childhood, we might have show certain behaviors that we do not show inRead MoreThe Problem Of Children Intelligence Test Scores1653 Words   |  7 PagesNowadays, the global is facing the same pressure in early childhood education; many countries’ education system start to teach children academic skills at progressively younger age; because of the concerns about falling behind peers in their later the school aged. However, these early-accelerated preschool programs do not necessarily guarantee future academic success. Even worse, that may cause children’s social and emotional problems in the future (Marcon, 2002). More and more researchers suggestRead MoreEssay on The Play Years755 Words   |  4 Pages The Play Years nbsp;nbsp;nbsp;nbsp;nbsp;Early childhood is often characterized by endless make-believe and sociodramatic play which indicates the development of mental representation. Sociodramtic play differs from simple make-believe play in that it involves play with peers. This stage of play is often referred to as the Preoperational Stage. This is the stage immediately after Piagets Sensorimotor Stage. The Preoperational Stage spans from two to about five or six years of age. At thisRead MoreNeighborhood Poverty, Social Capital, and the Cognitive Development of African American Preschoolers1482 Words   |  6 Pagesbeen connected with poor cognitive and social development in early childhood. The studies that I chose to use evaluate the cognitive and social development during early childhood using various surveys, evaluations, and observations completed by or with the children, parents, and teachers. Development of any kind is dependent on the interplay of nature and nurture, or genetics and en vironment. These studies draw from a child’s environment during the earliest years of development, specifically birth, pre-schoolRead MoreInfancy and Early Childhood Development1399 Words   |  6 PagesInfancy and Early Childhood Development Cynthia Miranda PSY 375 July 2, 2012 Dr. Aneta Bhojwani Infancy and Early Childhood Development Every human being begins developing in one way or another, from the moment they come into this world. Development and all its aspects begin in infancy and continue throughout one’s entire lifetime. It is a common belief that infants and young children are influenced by the environment that surrounds them. Cognitive and social aspects of development are shapedRead MoreThe Play Years805 Words   |  4 PagesThe Play Years Early childhood is often characterized by endless make-believe and sociodramatic play which indicates the development of mental representation. Sociodramtic play differs from simple make-believe play in that it involves play with peers. This stage of play is often referred to as the Preoperational Stage. This is the stage immediately after Piaget#8217;s Sensorimotor Stage. The Preoperational Stage spans from two to about five or six years of age. At this stage, according to PiagetRead MoreEssay about Early Childhood Stage of Development637 Words   |  3 PagesEarly Childhood Stage of Development The developmental period known as early childhood ranges from the years two to six. These years are often called the play years. During this time play flourishes and supports all of the phases of life. Early childhood has many physical developments like body growth, brain development, and motor development. During this time both gross and fine motor skills develop dramatically. Children can walk upstairs with alternating feet, ride

Assessment Of The Kindergarten Classroom An Empirical...

Assessment in the Kindergarten Classroom For many years, educators have been challenged in their efforts to assess kindergarten children using a variety of strategies. Tests and other types of assessments designed for kindergarten children are not the same as those intended for children in later grades in elementary school. Today, kindergarten teachers face the challenge of balancing traditional developmental programming with the academically oriented curriculum that is currently required. The essence of this challenge is to use assessments to measure and communicate student learning in relation to their curricular stance. The first article that I examined to investigate the issue was â€Å"Assessment in the Kindergarten Classroom: An†¦show more content†¦At the kindergarten level, this movement has been met with significant debate as teachers negotiate the balance between traditional developmental programming and the current academically-driven curriculum. Central to this debate is teachers’ uses of assessments to measure and communicate student learning in relation to these curricular orientations. In practice, in every school kindergarten, teachers face the challenge of finding assessment strategies that serve multiple purposes across curriculum orientations. Compounding this challenge is a dearth of empirical research into classroom-based, kindergarten assessment. The three research questions guiding the investigation in the first article were: (a) How do teachers describe and demonstrate their curricular stance in relation to developmental and academic orientations to kindergarten education? (b) What assessment strategies do kindergarten teachers integrate into their kindergarten programs? and (c) How do teachers’ approaches to assessment align with their curricular stances? Through interviews and classroom observations, the findings of the study contributed to the development of profiles delineating approaches to kindergarten assessment. As we all know, contemporary kindergarten is loaded with standardized expectations that emphasize the mastery of academic skills. These expectations have a

Platinum Box free essay sample

Platinum Box is a Canadian company that when started in 1985 specialized in graphic design. In1992 with sales of $5,000,000 and 20 employees the decision was made to have Platinum expand it’s operation to include fold down boxes. By 2005 Platinum’s sales had expanded to $20,000,000 with 75 employees. Jim Hicza, the President of Platinum has announced that the company will be expanding into the United States. This is expected to double Platinums sales in just 3 years. In order to expand it has been decided Platinum will be required to purchase 5 more presses. Jared John Hicza, Procurement Manager for Platinum Box has been asked to source a supplier for the presses. Their findings have come up with three potential press suppliers that would meet their needs. Jared will have to provide information to make a recommendation on if Platinum should purchase the new Press’s required from their current supplier (JabaKing, in which they have done business and developed relationships with for over a decade, or to source out another supplier. Jared findings will recommend they continue their partnership with their current supplier, JabaKing. Jared has based his recommendations on an analysis of each supplier including: †¢Environmental and Root Cause Analysis †¢Alternatives and Options (Including Total Cost of Ownership Analysis †¢Implementation †¢Monitor and control Issue Provide a recommendation of which supplier to proceed with purchasing five new presses with and what financing method to use in purchase in order to succeed in Platinums expansion into the United States. Analysis Strategic reasoning and capacity: †¢Platinum plans on expanding into the US market †¢Plans on being a full capacity within 2 years †¢Projects sales to double within the next 3 years †¢Current capacity allows for 280,000,000 boxes per year (250days x 16hrs/day=4000 hrs/year. 4000hrs x 7000 sheets/hr = 28,000,000 sheets x 2 boxes/sheet = 56,000,000 x 5 presses = 280,000,000) †¢Requirements to accomplish the above include purchase or five new presses(280,000,000 x 2= 560,000,000) Market †¢Current supplier is supportive of unionizing all print shops locally †¢There have been struggles to get support from other local suppliers given their strong relationships with other printing companies †¢Variety of suppliers outside of Canada is available Considerations for comparison: †¢Quality †¢Performance/Operating Costs †¢Environmental issues †¢Labor Issues †¢Warranty/Lifespan †¢Word of mouth vs. experience †¢Location †¢Design †¢Downtime and maintenance cost implications Each will be rated, poor, good, better, best Quality Merakuri-High quality, 150cm stock capability-Best JabaKing-Good quality, 125cm stock capability-Good Pnutype-High quality, 125cm stock capability-Better Performance/Operating Costs Merakuri- Performance:10,000 sheets/hr output. Capacity: .05/sheet x 10,000 sheets/yr x 16hrs/day x 250 days/yr = $2,000,000/yr-Good JabaKing-Performance :7,000 sheets/hr output Capacity: . 07/sheet x 7,000 sheets/yr x 16hrs/day x 250 days/yr = $1,960,000/yr-Good Pnutype-Performance: 7,500 sheets/hr output. Capacity: . 04/sheet x 7,500 sheets/yr x 16hrs/day x 250 days/yr = $1,200,000/yr-Best Environmental Issues Merakuri-No information provided on this company at this time- Good JabaKing- no information provided on this company at this time- Good Pnutype-Technology being used is known for being environmentally sound-Best Labour Issues Merakuri-Unknown. Could follow different labour rules based from being located in South Korea- Good JabaKing-Is unionized providing insight that employee’s treatment will be monitored. However Unions can strike causing delays in services and higher costs related to being unionized-Better Pnutype-Non-Unionized, however would have to adhere to labour laws being located within the US-Better Warranty/Lifespan Merakuri-Next day service on major issues from distributor, Full warranty on parts for 3 yrs. Few presses make it past 12 years-Poor JabaKing-3 year warranty on parts and labour to install parts. JabaKings presses outlive their given lifespans. -Better Pnutype-Warranty on equipement for 5 years for parts and labour to install parts. Lifespan is unknown as the press technology is relatively new. Suggested lifespan is 10 years-Best Word of Mouth Vs. Experience Merakuri-Word of mouth says Merakuri has the highest quality. They have offered a trip to their facility in South Korea for demonstration. Few presses make it past their 12yr life expectancy-Good JabaKing-Relationship with this supplier have shown their quality is good, not great, however experience has shown their presses live past their life expectancy-Better Pnutype-Word of mouth suggests systems run strong, too early to tell if presses live long-Good Location Merakuri-Location Korea, support and leadtime may be effected due to being located overseas. They do have a distribution in Regina for support-Good JabaKing-is within close proximity this is favorable for JabaKing-Best Pnutype-There is no local support from Pnutype, location is in the US-Poor Design Merakuri-There should be no design issue in this case and Merakuri is well established within the industry- Better JabaKing-With Platinums experience there have been no outstanding issues with the design technology-Best Pnutype-The design on this press is relatively new and could become dependent on this new technology-Good Downtime Merakuri-3days per year of downtime on average 3days x 16hrs/day x 75 staff x $25/hr wage= $90,000/yr x 10years = $900,000 Maintenance $35,000/year x 10 years = $350,000 Total cost implications = $1,250,000 over 10 years-Better JabaKing-4 days per year of downtime on average 4days x 16hrs/day x 75 staff x $25/hr wage = $120,000/yr x 10 years = $1,200,000 Maintenance $20,000/year x 10 years = $200,000 Total cost implications = $1,400,000 over 10 years-Good Pnutype—No current data over the last 2 years on any downtime, no maintenance budget numbers to be found due to no downtime on presses Total cost implications = 0 base on this only assumptions can be made to be fair An average of total cost implications was taken and split in a third for Pnutype $1,250,000+$1,400,000= $2,650,000/3=$883,333 over 10 years-Best Poor 0 pointsGood 1pointBetter 2 pointsBest 3 PointsTotal Merakuri152112 JabaKing043216 Pnutype122418 Total Cost of Ownership Analysis (Appendices A, B, C) A total cost of ownership analysis shows Pnutype has a much lower TCO but this is slightly skewed based on little information on the maintenance and downtime data. Pnutype has only been producing these presses for 2 years, the 2 years have shown no costs for these. The costs can come back to be much higher, it might be wise to pre-negotiate a maintenance program with Pnutype if they are the supplier chosen. Alternative/Options Option #1-Select Merakuri or Pnutype as new suppliers Pros: †¢Quality is higher than JabaKing †¢Good Warranty †¢Lower Costs for Pnutype †¢Non-Unionized-no risk of strike †¢Higher quality output Cons: †¢Location may cause issue for lead times and support †¢Unknown if Pnutype can deliver and support product †¢Unknown life expectancy for Pnutype †¢Pnutype TCO does not show potential full cost †¢No relationship with Merakuri or Pnutype Option #2 Purchase from Jabaking Pros: †¢Strong relationship †¢Known quality †¢Warranty is strong †¢Known Design †¢Second highest Good, Better, Best analysis score †¢Second lowest TCO analysis †¢No need for plant visit- capacity and quality already proven †¢Supporting local companies Cons: †¢Unionized, can go on strike and increase the costs †¢Repair costs are higher †¢No financing options Recommendations Based on the analysis I recommend Option #2 Remain with JabaKing Although they scored lower in the overall analysis score and had a higher TCO, the TCO was based off of Pnutype not having full data on their maintenance and Downtime information. JabaKing is based on all information. This will also allow for Platinum to show their loyalty and foster an even stronger relationship. Implementation and Monitoring Who: P-Procurement, B-Board, When: I-Immediate, S-Short Run, M-Medium Run, L-Long term RecommendationActivityWho PrimaryWho SupportWhen 1Present findings to boardP I 2Select JabaKing as supplierBS 3Secure Financing with Labor Union BankBP-Provide any information and analysis neededS-M 4Negotiate terms with JabaKing including possible discount on future Press requirementsPB-will need approvalS-M 5On-going follow-up with supplierPB-any feedback to improvement or changes neededI-L For the success of the implementation and monitoring of this analysis it is imperative the five presses be delivered and in working order within the next 6 months. Conclusion The tight timeframe in which Platinum has to get the new presses up and running, the best decision is to work with the current supplier, knowing the support they provide and the quality of their presses as well as the maintenance. This is the lowest risk option.