that encodes for a chloride channel called the cystic fibrosis transmembrane conductance regulator (CFTR). In ductal epithelial cells‚ CFTR is highly expressed and functions to transport fluid and anions into the lumen. Dysfunction of the CFTR gene leads to a decrease in luminal fluid volume and decreased pH‚ resulting in protein precipitation within the ductal lumen and loss of normal acinar cell function. Estimated gene frequency of cystic fibrosis varies in different ethnic groups with highest
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Read the entire document; however‚ only answer the questions in Part III under Objectives and Issues (#1-8) to prepare for the in-class set of questions. Part I—The Initial Physical Examination Scenario Mary and Bill adopted a three-year-old toddler named Sam two weeks ago. Sam is good-natured and very inquisitive. Typically‚ before the finalization of an adoption‚ children are required to undergo a routine examination by a physician. However‚ the required examination is not meant to be a
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out the situation in an ethically acceptable fashion. The following will consist of an ethical dilemma involving Sarah Murnaghan who is fighting for her life. Sarah Murnaghan Sarah Murnaghan is a ten year old girl who suffers from end-stage cystic fibrosis at the Children’s Hospital of Philadelphia. The Doctors from the hospital declare that a lung transplant is the only chance of survival. (“CNN HEALTH‚” 2013). Rules prevent children of the age of Sarah from getting lungs from adults. Due to the
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before babies are even born could be the mother smoking‚ drinking‚ poor diet or taking drugs whilst pregnant which all harm the baby. Genetics are also a factor which could possibly affect development‚ such as; prematurity‚ autism‚ down syndrome‚ cystic fibrosis or chromosome disorder. Another influence is medical conditions such as; dyslexia‚ dyspraxia‚ visual impairment‚ AIDS‚ epilepsy‚ asthma and/or cancer/leukimia. Culture is another factor; parental influences on the child‚ religion‚ language barriers
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_______________________________________ Part I—The Initial Physical Examination Scenario Mary and Bill adopted a three-year-old toddler named Sam two weeks ago. Sam is good-natured and very inquisitive. Typically‚ before the finalization of an adoption‚ children are required to undergo a routine examination by a physician. However‚ the required examination is not meant to be a complete health screening‚ and many conditions are not even checked. Therefore‚ Mary and Bill are bringing Sam to Trinity
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Patients with Autoimmune Diseases/ Other Illness Cystic Fibrosis is a genetic disease that is passed down from both of the parents who have a copy of a defective in their DNA. There are variety of symptoms when it comes to cystic fibrosis such as: ‘Very salty-tasting skin‚ wheezing or shortness of breath‚ and male fertility ‘. There are no known cures for this genetic diseases‚ but there are treatments‚ and research that can help control this disease‚ and to possibly make a breakthrough discovery
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SCI 241 Week 8 Discussion Question 2 Review the following Web sites to prepare for Discussion Question 2‚ performing a search using the key words hunger‚ poverty‚ and malnutrition for the first three Web sites: http://www.who.int/en http://www.unicef.org http://www.un.org/summit/hunger.html http://www.thp.org/what_we_do/program_overview/intro_video Post your response to these questions: Undernutrition continues to be a chronic problem for many countries throughout the developing
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was one of the most exciting days of my life because I finally had a baby brother. When Jacob was 3 months old‚ my parents had a talk with my other siblings and myself about something‚ which at that time‚ terrified me! Jacob was diagnosed with Cystic Fibrosis at 2 weeks old but my parents were unaware of anything about the disease‚ so they waited to inform us whenever they knew they had all the information they could tell us at that point. Growing up with a sibling with a genetic disease is hard but
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most often are those that cause disease such as‚ cystic fibrosis‚ sickle cell disease‚ and Tay-Sachs disease (Genetics.) These specific diseases are both devastating and life changing. Each disease is caused by a mutation in different gene and in turn affects different parts
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On researching new developments in the treatment of cystic fibrosis‚ I came across a very interesting article: “Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.” In the article‚ Viet et al1 reveal the potential application of the silencing of RPL12 (Ribosomal Protein L12)‚ to correct the ΔF508-CFTR biogenesis defect. As you know‚ cystic fibrosis is caused by a defect in the CF transmembrane conductance regulator (CFTR gene)‚ or more specifically‚ mutations
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