Reference no: EM132319284
Part A -
Scenario - Peter Jackson
Ruth and Michael Jackson have been trying to have a baby for the past five years. In November 2016, Ruth gives birth to a son, Peter. 48 hours after birth, Peter undergoes the standard neonatal screening test, which helps to identify those infants at risk of rare, but serious medical conditions such as phenylketonuria, hypothyroidism and cystic fibrosis.
Peter is found to have cystic fibrosis (CF), an autosomal recessive condition that affects mostly the lungs, but also the pancreas, liver, kidneys and small intestine.
(a) Discuss difference between having the disease of CF compared to being a carrier of CF from a genetic perspective.
Outline what makes someone a carrier.
Outline what results in someone having the disease wrt genes.
Further Information: At three months, Ruth and Michael take Peter to the paediatrician for a follow up. The paediatrician notes FTT (failure to thrive) on Peter's medical record. She explains to the Jackson's that this means Peter has poor weight gain, and that he will need a high calorie diet and enzyme supplementation for the rest of this life.
(b) Explain how CF causes failure to thrive and how this may impact on Peter's biological maturation.
Define CF.
Describe the changes caused by CF to respiratory system and digestive system.
Define biological maturation.
Link: failure to thrive to "biological maturation".
(c) Why does Peter need a high calorie diet and pancreatic enzyme supplementation?
Explain the need for high calorie diet and pancreatic enzyme supp.
(d) How does CF contribute to malabsorption of nutrients in a teenager?
Part B -
(a) Where is the respiratory control centre located? What is the stimulus that causes the respiratory control centre to increase respiratory rate?
Name
Identify or name this stimulus (blood gas change and then the pH change).
(b) Why would the patient have an increased respiratory rate if they are suffering from pneumonia? You need to explain the physiology behind why having pneumonia causes increased respiratory rate.
Outline what physiological change in our blood causes increased RR.
Explain the characteristics of pneumonia that would lead to this physiological change in our blood.
(d) How does administration of supplementary oxygen help to maintain homeostasis of respiration?
Role of oxygen in cellular metabolism - why is oxygen important to our health (cells health) Describe supplementary oxygen will be _______ in illnesses where_______
When people are unwell - cells need to _______faster which requires even more _______.
For question do c and d part and for the rest we have to pick c.