Download Course Syllabus

Course Syllabus
Table of Contents
Item
Page
Instructor Information
2-1
Course Information
2-2
Course Objectives
2- 4
Learning Resources
2–5
Course Requirements & Grading
2-6
Detailed Course Schedule
2-8
Instructor Information
DR. Najlaa Alsini (Course Instructor of theory part)
Mobile: 0508263363
E-mail : [email protected]
Instructor profile: Assistant professor
Contributor Members
Name: Mrs. Shahd Naghi (Course Instructor for the practical part)
Mobile: 0503624984
E-mail: [email protected]
Instructor profile: Clinical Dietitian
2-1
Course Information
COURSE NAME: METABOLIC AND GENETIC NUTRITIONAL
DISORDERS
COURSE NUMBER: CLN 446
COURSE MEETING TIMES:
Lecture hours: 2 hours/week for 15 weeks (Total 30 hours)
Practical hours: 2 hours/week for 15 weeks (Total 30 hours)
Tutorials: :
1 hour/week for 15 weeks (Total 15 hours)
LECTURES
Two /Week
Sun 8:00 – 10:00
PRACTICALS
Two/Week
Thur 9:00 – 11:00
TUTORIALS
One /Week
Thur 11:00 – 12:00
COURSE MEETING PLACES:
Faculty of Applied Medical Sciences
Female section 4th year classroom
Building number 12, ground floor, Room No. 1234
COURSE PREREQUISITES AND REQUIREMENTS:
Successful completion of Biology / Biochemistry / Nutritional
Biochemistry
2-2
DESCRIPTION OF THE COURSE:
This course introduces metabolic diseases and provides an
expanded idea about genetics, and the role of medical nutrition
therapy, screening, diagnosis and genetic counseling in the
treatment of genetic and metabolic disorders.
TEACHING METHODOLOGY:
Mostly traditional instructions, with usage of data show .The
students search websites on the Internet that are relevant to the
topics of the course.
- Regular reviewing of lectures and updating the course contents
as needed.
- Regular reviewing of practical procedures.
- Developing course portfolio.
- Distributing course evaluation form to students by the end of
the course.
- Regular departmental meetings to discuss each course with the
course coordinator to find the strength and weaknesses and
possible strategies for continuous improvements.
2-3
Course Objectives
GENERAL OBJECTIVES:
After attending this course, students should be able to:
1- Realize the importance of genetics in medicine and in metabolic
diseases.
2- Realize the importance of genetics in diagnosis of metabolic disease and
prognosis
3- Realize the way to diagnose metabolic diseases during pregnancy
4- Realize the way genetic testing can help preventing diseases to occur
and give parents of sick child a way to produce healthy children before
pregnancy (Pre implantation Genetic diagnosis).
5- Realize how genetics can help in pre-marriage screening
6- Realize how genetic diseases are common in our society and the reason
for it.
7- Realize the mode of inheritance of metabolic diseases, X linked and
Autosomal, finally realize the rule of genetics in development of medicine
and research mainly.
8- Realize the way metabolic diseases can happen, and how enzymes play
a major role in metabolism.
9- Realize the deficiency of these enzymes and the affect it makes in the
pathways and how it shows clinically on the patient
10- Realize how diet metabolism in the cell is affected if some of these
enzymes are deficient
11- Accordingly, diet will be the main management of these patients
12- Finally, they will realize that the main person who will manage these
diseases is the clinical dietitians
Objectives to be met by :
Teaching in class and practical session in the hospital.
Students will use books and electronic search for some materials
2-4
Learning Resources
TEXT BOOKS & OTHER MATERIALS:
1. Mahan, L. K., & Escott-Stump, S. (2011). Krause's food & nutrition
therapy. (13th ed.). St.Louis: Saunders, Elsevier.
2. Peter Turnpenny . (2011). Emer'ys Elements of Medical
Genetics.(14th ed.). St.Louis: Churchill Livingstone.
3. Joede, Lynn B ; Carey, John C ; White, Raymond L ; Bamshad,
Michael J. (2009). Medical Genetics. (4th ed.). Mosby.
4. Atlas of metabolism disease by nyhan and ozand (2013), 2nd edition
5. Inborn metabolic disease by saudubray (2012), 5th edition
6. Medical Genetics by Jorde , Carey and Bamshad (2010), 4th edition
MEDICAL NUTRITION THERAPY FOR METABOLIC
DISORDERS (for Practical Part)
7. Nutrition management of patients with inherited metabolic disorders
(Phyllis B.Acosta), 2010
8. Nutrition support protocols: the Ross metabolic formula system, by
Phyllis B Acosta; Steven Yannicelli; Abbott Laboratories. Ross
Products Division, 2001
9. Metabolicpro web-based nutrient analysis software program,
developed by Nutricia Advanced Medical Nutrition
2-5
Course Requirements & Grading
COURSE REQUIREMENTS:
ATTENDANCE:
Learning in this class is an active, ongoing process. Information will
be presented in class that can not be effectively communicated by
reading another student's notes. Students need to experience each
class him/her self. His/her performance in class depends a great deal
on his/her attendance. It is important that students are on time, have
few or no absences, and remain in class the full period. Attendance is
taken at the beginning of class.
Sometimes in-class quizzes or other graded activities occur. These
may be individual or in groups, as determined by the instructor. If
students miss a class in which one of these takes place, he or she has
a zero for that quiz/activity.
WITHDRAWALS:
If a student wishes to withdraw from the course, it is his or her
responsibility to inform the instructor. Appropriate withdrawal
procedures will be followed. When a student accumulates unofficial
absences in excess of two lectures or two labs or more, the instructor
may, but is not obligated to file a withdrawal.
IMPORTANT NOTE:
If a student must be absent on the day of a test, he/she must notify
the instructor prior to test time in order to be allowed to take a makeup test. A grade of zero (0) will be assigned if the instructor is not
notified. If the student exceeds the maximum absences of 10%, this
will result in his/her being dropped from the course.
2-6
EVALUATION STRATEGIES/GRADING
GRADING PLAN
Total grade is 100, distributed as following:
Continuous Assessment (45%)
Midterm
30%
Homework, assignments
attitude and attendance
15%
Final Examination (55%)
GRADING SCALE:
The following grade scale applies throughout the course:
MARK
GRADE
95-100
A+
Exceptional
90-94
A
Excellent
85-89
B+
Superior
84-80
B
Very Good
75-79
C+
Above Average
70-74
C
Good
65-69
D+
High-Pass
60-64
D
Pass
0-59
F
Fail
2-7
Detailed Course Schedule
WEEK
1
LECTURE AND PRACTICAL TOPICS
What is due?
Introduction and course overview
Brief history of genetics
2
3
4
Structure of Gene and Mitosis
CHO Structure, Lactose Intolerance, Glucose and
Galactose Malabsorption
Glycolysis, Glucose Influx
Krebs Cycle and Electron Transport Chain,
Galactosemia, Hereditary Fructose Intolerance,
Congenital Hemolysis (Pyruvate Kinase Deficiency)
Glycogen Storage Disease (Von Gierke)
Assignment
Assignment
Assignment
X-Linked disease (G6PD, Hemophilia, Duchenne
Muscular Dystrophy)
5
6
Fatty Acid and Cholesterol Synthesis, Smith-LempliOptiz Syndrome
Familial Hypercholesterolemia, Bile Acid synthesis,
Lipoprotein (Chylomicron, VLDL, LDL, HDL),
Ketone Bodies
Beta acid Fatty Oxidation Defect (SCAD, MCAD,
LCAD, VLCAD), Transporter Deficit, Free Carnitine
Revision
7
Revision
Midterm
8
Protein Metabolism
Assignment
Urea Cycle Disorders
9
12
13
Phenylketonuria (PKU)
Organic acidemia (Propionic and methylmalonic)
Trip to Central Lab
Homocystinuria, cystinuria/ cystinosis, MSUD
14
Tyrosinemia type 1 and alkaptonuria
Screening, prenatal testing and diagnosis of inborn
errors of metabolism
15
Genetic counseling of genetic and metabolic
disorders
Revision
18
Assignment
Final Exam
2-8