PBL 3 - Pauline Gets Clucky

Rebecca is asked by her supervisor at site visits to talk about cystic fibrosis. Having paid full attention in PBLs, Rebecca knows that the inheritance pattern of cystic fibrosis could be best described as:

Once again, Tushar is living his sad life of looking up statistics on cystic fibrosis. He would find that the allele frequency and carrier frequency respectively of cystic fibrosis are:

Tushar also finds a website (which he is not completely sure he can trust) that says “If a child with cystic fibrosis is born to healthy parents, then the parents must be carriers of the disease”. This statement is:

The same website also states “cystic fibrosis is equally found in males and females”. This statement is:

Maddi is much better than Tushar at math. Hence, when a patient, who is a carrier of cystic fibrosis asks Tushar what the chances are of his child inheriting the disease, he passes the case straight onto Maddi. She does some quick calculations and finds that the chances of the child being born with cystic fibrosis are (assuming he marries a healthy Caucasian female):

After Theveen’s HKS presentation, the assessors try to grill him. What should Theveen say when they ask him “which genes are mutated in cystic fibrosis”?

Izzie wants to challenge Theveen even more and asks him which ion channels are affected in cystic fibrosis. Which of the following is the correct response?

Gaya and Ganan get into another argument involving cystic fibrosis. Gaya believes that in cystic fibrosis, the lungs and endocrine systems are affected while Ganan argues that the gastrointestinal track and infertility are affected but motor function is not affected significantly. Who is correct?

Upuli gets picked on by Nadida during her clinical skills tutorial to describe cystic fibrosis. Which of the following should Upuli say are not observed in children born with cystic fibrosis?

Keeran is next to get picked and he’s asked to describe osteoporosis and failure to thrive, which are often observed in children with cystic fibrosis. What is the reason for these two clinical presentations?

Nushrat observes a heel prick test being performed on a newborn baby to identify whether he has cystic fibrosis. Which of the following proteins is being analysed in this test?

The intern in charge allows Nushrat to also observe a sweat test, where electrodes are placed on the babies body to induce sweating, which is later analysed to determine the Cl- concentration. However, Nushrat is horrified that the baby is essentially “electrocuted” to induce sweating however, the intern ensures her that the procedure only causes discomfort for a couple of minutes. Is the intern’s response correct?

Vishwethaa is asked during her OSCE by the sim patient (who has cystic fibrosis) about possible medication used to manage the condition. Which of the following is not administered to cystic fibrosis patients?

Kanila, Darren and Dana decide to practice genetic counselling together. However, they realise that the lecture on MULO has been deleted and can’t remember the process of carrying out such a consultation. Which of the following are components of the genetic interview (more than 1 answer)?

Kanila, on the other hand, wants to leave early cause he wants to go gym. So, instead of practicing the interview, he decides to just give them the order of the genetic consultation: “Diagnosis, Information & Education, Counselling & Support, Informed Decision-Making, Management”. Is the process that Kanila described in the correct order?