Cystic Fibrosis Case Study | Case Study Template

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These are often replaced by Pseudomonas aeruginosa both mucoid and non-mucoid colony type. According to the Centers for Disease Control and Prevention CDCapproximately 1, new cases are diagnosed yearly in the United States, with a known incidence of 1 per 3, live births. This hyperimmune process is now known to be a major factor in the progressive lung disease that characterizes CF. Sinusitis is universally present in CF patients The cross between C x C is shown below. These include adrenal insufficiency, anorexia nervosa, atopic dermatitis, ectodermal dysplasia, fucosidosis, mucopolysaccharidosis type 1, and nephrogenic diabetes insipidus among others.


The aim is minimization of the yearly decrement in pulmonary function tests associated with the pulmonary deterioration.

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Similar elevations for sodium as well as potassium exist but there is greater overlap with the normal population. The disease process is caused by a mutation to the gene that encodes for the cystic fibrosis transmembrane conductance regulator CFTR protein.

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This mutation alters the production, structure, and function of cAMP cyclic adenosine monophosphatea dependent transmembrane chloride channel business plan for white coal manufacturing protein found in the exocrine mucus glands throughout the body. The timing of such intensive therapy in this chronic disease is best governed by symptoms as well as by objective pulmonary function data.

The disease prevalence varies greatly by ethnicity, with the highest prevalence occurring in Western European descendants and within the Ashkenazi Jewish population. Subsequent bacterial colonization occurs at an early age and ultimately this repetitive infectious process leads to progressive inflammatory damage to the organs argumentative essay list in individuals with CF.

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This frequently results in a distal microcolon that requires surgical intervention. The genetic variations and molecular implications are becoming clearer Bythe genetic nature of this autosomal recessive disease was described. CUFF Mutations 5.

Pungent Squares 3. Antifungal agents are not needed. Nasal u boot technology literature review Family history: Construct a Pungent square to demonstrate why Sarah concluded that she and Michael could not have an affected child assuming that she does not carry a CUFF mutation.

More than mutations are now known. Father age 23racially mixed, Portuguese. It is important to remember, however, that Staphylococcus aureus is frequently present in concentrations to times less than that of the pseudomonas 19such that Staph aureus is frequently undetected in routine qualitative sputum cultures.

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Cystic fibrosis is said to be the business plan for white coal manufacturing common, lethal inherited disease of white people. Historically, obtaining a sweat test involved bundling the child to induce sweating.

Despite trials of different types of formulas soy, hypoallergenic, etc.

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Female infertility in CF is primarily due to Bronchospasm symptoms are treated with the usual medications outlined under asthma therapy. The percentage of CF patients with pancreatic exocrine dysfunction decreased lipase, essay on drug addiction among students, etc.

Since better enzymatic preparations are now available, fat restrictive diets are rarely needed. Hawaiian and Chinese. All three family members are alive and well.

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He was the product of a 21 year old Gravida 2 Para 1, Ab 0 mother and was born at 41 weeks of gestational age. Questions 1. The RC identified in this child is one of the rarer CF genes. For example other alterations are 6. Bronchial artery embolization has proven to be effective but has significant risks Digital clubbing.

Paul di Sant'Agnese recognized that CF patients lost excessive salt in their sweat 2forming the basis for use of the sweat chloride test as a cornerstone of the diagnosis of cystic fibrosis case study questions disease.


In this example the mutation is at code At the age of 5 months he was hospitalized for respiratory distress and was diagnosed as having asthma. Currently, the iontophoresis of pilocarpine a cholinergic agent is used to induce sweating 3.

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This resulted in some deaths. In infancy, the organisms are most frequently Staphylococcus aureus, non-typable Haemophilus influenza, and other gram negative organisms The inflammatory process directed essay love family the pathologic organisms is incapable of eradicating the organisms and causes nonspecific damage to the airways that are "innocent" bystanders.

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The acquisition Burkholderia cepacia is associated with rapid deterioration in pulmonary status and earlier death Please enter User Name Password. There seems to be a local environment in the CF airways that promotes the growth of pseudomonas.

Nebulized therapy has offered an additional route for delivery of antibiotics The cross between C x C is shown below.

  1. Cystic Fibrosis Case Study new
  2. Cystic Fibrosis Case Study | Case Study Template

Cor pulmonale is treated with oxygen therapy, diuretics and digoxin. Sweat test: As CF patients get older, pancreatic complications include pancreatitis as well as the insulin deficient form of diabetes mellitus. Airway obstruction manifested by wheezing and air trapping. InDr. Soon after birth, he developed respiratory distress and was admitted to the neonatal intensive care unit where he was mechanically ventilated for 1 day and discharged after 5 days.

Others present with rectal prolapse in association with failure to thrive. What are essay on drug addiction among students disease symptoms?

Thus began the recognition of cystic fibrosis of the pancreas CF. As in the case presented above, fat maldigestion, steatorrhea and failure to thrive are presenting features.

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Quantitative culture, which would detect both organisms, remains a research tool unavailable to most clinicians. Patients with the Delta-F mutation have predominant impairments in body structure and function of both the respiratory and gastrointestinal tracts. Gastrointestinal complications are the most obvious early presenting symptoms.

The CF mutation 7 has been localized to chromosome 7, band q31 8. In this case it was a deletion mutation. He has a sister age 2.

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The symptoms of cystic fibrosis include coughing with mucus coming up, wheezing, breathlessness, decrease in ability to exercise, lung infections, inflamed nasal passages, stuffy nose, bad Roth, intestinal blockage, severe constipation argumentative essay list greasy foul smelling stool. Its presence is a sign of severe pulmonary disease and a business plan oxcen milk dairy prognosis sign These include adrenal insufficiency, anorexia nervosa, atopic dermatitis, ectodermal dysplasia, fucosidosis, mucopolysaccharidosis type 1, and nephrogenic diabetes insipidus among others.

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This has been labeled frustrated phagocytosis. Laboratory Results: The thick mucus obstructs the cell membranes, traps nearby bacteria, and incites a local inflammatory response. Usually, two antibiotics are used, an aminoglycoside and a anti-pseudomonal penicillin.

Cystic Fibrosis Case Study

It is found in people of Portuguese decent. How many intros? Colonization, which may not actually mean infection, with pseudomonas mucoid colony type leads to a state of chronic airway inflammation. In a review of cystic fibrosis patients, the frequency of presenting signs and symptoms were: Indeed, those cystic fibrosis patients with the highest IgG levels had the worst prognosis and the shortest life expectancy