Grand Rounds 6. Lesson Summary: Student Learning Objectives: Standards: Materials:

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Grand Rounds 6 Lesson Summary: Building on the previous activity, students will present a summary of their patient case along with the lab results they found in a grand rounds fashion. This activity allows students the opportunity to read actual patient cases and work together to summarize the findings. When they present their summary to the class, each member of the group is responsible for presenting part of the case. Student Learning Objectives: Vocabulary: Grand rounds are an important teaching tool and ritual of medical education and inpatient care, consisting of presenting the medical problems and treatment of a particular patient to an audience consisting of doctors, residents and medical students. The patient was traditionally present for the round and would answer questions; grand rounds have evolved with most sessions now rarely having a patient present and being more like lectures. The student will be able to... 1. Explain the significance of genetic factors to health from the perspective of the individual. 2. Discuss recessive inheritance. 3. Discover how mutations in the DNA sequence may result in phenotypic changes and Pompe disease. 4. Explain the basic processes of transcription and translation and how they result in the expression of the GAA gene. 5. Describe the basic structure and function of DNA and protein. 6. Create proteins and amino acids structures. Explain the function of proteins in living organisms. Relate the structure and function of enzymes.? KEY QUESTION(S): How does Pompe disease present in different individuals? Is there a clear genotype/ phenotype correlation for all forms of the disease? Are there common, predictive symptoms among the different forms of Pompe disease? TIME ESTIMATE: Advanced Preparation: 30 minutes Student Procedure: 45 minutes LEARNING STYLES: Visual and auditory Standards: See table on page 11-13. SC.912.L.14.6 SC.912.L.16.4 SC.912.L.16.2 SC.912.L.16.5 SC.912.L.18.1 SC.912.L.18.4 SC.912.L.18.11 Materials: Grand Rounds Worksheet, one per student Optional: Grand Rounds Worksheet Poster or overhead for students each student group to record data 75

Background Information: Part of the dilemma with diagnosing and treating Pompe disease is the multitude of different symptoms, particularly in patients developing symptoms later in life. While some mutations and consequent genotypes are clearly deleterious and often result in the most severe form of Pompe disease (infant or classic), other mutations present differently in different patients. Almost 300 different mutations have been identified to date. Part of the dilemma with diagnosing and treating Pompe disease is the multitude of different symptoms, particularly in patients developing symptoms later in life. While some mutations and consequent genotypes are clearly deleterious and often result in the most severe form of Pompe disease (infant or classic), other mutations present differently in different patients. Almost 300 different mutations have been identified to date. The case histories that the students work from are adapted from actual stories given by parents and patients combined with information published regarding specific forms and associated phenotypes. The cases are therefore not completely accurate as they are several stories combined to allow students to put themselves in the place of the patients, families, and doctors. This will allow them to identify with the patient groups as they move through this unit ending with a gene therapy class discussion. Advance Preparation: 1. Make copies of Grand Rounds Worksheet for students. Procedure and Discussion Questions with Time Estimates: 1. (2 min) Ask students to reassemble with their lab group and take out their Clinical Lab Report from the previous day. 2. (5 min) Allow student groups to read and discuss the case and complete their Grand Rounds Worksheet with their patient s information as needed. While waiting for all groups to finish, encourage students to copy the patient data from the class chart to their Grand Rounds Worksheet. 3. (3 min) Read the definition of grand rounds. Review what grand rounds are and the purpose. 4. (2 min) Tell the students they will have 3 minutes to present their case in the format of grand rounds. They essentially need to complete the class chart and explain their results and if they are in keeping with the patient case report. The science must be presented accurately and in keeping with the ethical code of conduct for researchers and clinicians, and utmost respect for the patient. If desired, you could assign roles to each of the team members as below: a. share lab results from the previous day, b. discuss the mutation(s) present and how they affect the protein, c. summarize the case (or read the case report), d. indicate what form of Pompe the patient has and possible treatment options. 5. (3 min) Allow the first group 3 minutes to present their case. Introduce each group by the patient number. 6. (25 min) Repeat step 7 with the remaining groups. 7. Instruct the students to complete the questions on the back of their Grand Rounds Worksheet for homework. Assessment Suggestions: Collect Grand Rounds Worksheet. 76

STUDENT WORKSHEET Grand Rounds Worksheet (page 1) NAME DATE HOME GROUP MEMBERS Patient # GAA Activity Results Color And % Mutation(s) Effect On Protein Structure Predicted Function 10031 20032 30033 40034 50035 60036 70037 80038 77

STUDENT WORKSHEET Grand Rounds Worksheet (page 2) Patient # Age Of Onset Symptoms Form Of Pompe Disease Treatment 10031 20032 30033 40034 50035 60036 70037 80038 78

STUDENT WORKSHEET Grand Rounds Worksheet (page 3) NAME DATE PATIENT NUMBER 1. Does your case report match your laboratory results? Why or why not? 2. Identify three similarities between the patients. 3. Identify three differences between the patients. 4. Does there seem to be a relationship between the DNA sequence (genotype) and the symptoms of the disease (phenotype)? If so, which patients have the strongest correlation? 5. What is the most common form of treatment for Pompe patients? 6. Can you describe any other experimental therapies that could be investigated? 7. Imagine a patient received treatment which allowed glycogen to be broken down in the lysosome, preventing further damage to the body. Is there any way to repair the damage that has already occurred? 79

TEACHER PAGES Notes: 80