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OBJECTIVES

Case 1

1. Identify the components of a cell and describe their function2. Describe the process from transcription to exocytosis of a secreted protein3. List the possible ways an organ may become enlarged4. An appreciation from the variety of phenotypes that can result from different mutation

of a single gene5. Appreciate how mutation in a single gene may dramatically affect cell organization,

organ development, and function

Case 2

1. Explain the structure of the lipid bilayer of the cell membrane, its synthesis andcharacteristic

2. Describe the incorporation of membrane proteins and carbohydrate layers on the lipidbilayer structure of the cell membrane

3. Describe the general concepts and functions of protein carriers and ion channels inmembrane transport – in particular ion channels and their molecular ultrastructure

4. Describe mechanisms of control of ion transport5. Outline the mechanisms of passive and active transport through the membrane6. Describe the mechanism of function and control of Calcium, Chloride, and Sodium

ion channels7. Describe the abnormalities of channels which can occur as a result of genetic

mutation8. Describe the cell membrane abnormalities which occur with Cystic Fibrosis9. Correlate the clinical symptoms of CF with the abnormalities of the cell membrane10. Describe the role of ion channels in the cell signaling of nerve cells

Case 3

1. List the features and differential diagnosis of neonatal jaundice2. Describe energy production in the cell3. Describe the structure and ultrastructure of mitochondria4. Describe and compare the different metabolic pathways for energy production5. Describe the regulation of glucose metabolism6. Describe correlation between elevated levels of galactose with path-physiology of the

changes in the liver, brain, kidney, and eyes7. Describe metabolism of carbohydrates8. Describe metabolism of amino acids9. Explain the links between the different metabolic pathways

Case 4

1. Describe the nucleus and its contents2. Describe chromosomes and genes and describe regulation of gene expression3. Describe DNA/RNA structure4. Describe transcription and DNA formation5. Describe replication meiosis6. Describe and define Mendelian-patterns of inheritance7. Describe the genetics of normal Hb production8. Describe what thalassemia is and what is the genetic pattern of inheritance9. Describe the concepts of mutations, translocations, their expressions, and inheritance10. Describe hemoglobinopathies and their major clinical features11. Describe and interpret the studies for diagnosis of Hb disorder12. Discuss the genetic counseling need of family affected13. Discuss strategies to prevent thalassemia disease

Case 5

1. Describe the ultrastructure and function of the Endoplasmic Reticulum

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2. Describe the role of DNA and RNA in protein synthesis3. Explain the principle of amino acid and their role as building blocks of protein4. Describe the structural forms of polypeptides and how the sequencing of amino acid

is determined5. Describe the normal process of protein synthesis6. Discuss the biological function of protein

7. Describe enzymes and their roles in protein synthesis8. Describe the abnormalities which can occur in protein synthesis9. Define and describe the origin and role of prions and how abnormal prions call

disease10. Review the pathophysiology of SSE and clinical picture of SSE (CJ disease)11. Be aware that a transmissible bovine spongiform and cephalopathies has caused

human disease12. Discuss possible regulation to protect human in general public and for international

travel

Case 6

1. Describe the structure and function of nucleotides in the cell2. Describe the process and control of nucleotide metabolism

3. Describe the structure and process of purine and pirimidine formation4. Describe errors which may develop in purine and pirimidine metabolism5. List the important diseases which occur secondary to defects in formation of purine

and pirimidine6. Describe the mechanism of errors of metabolism which occur in gout7. Describe the genetic abnormality which occur in gout8. Describe the clinical picture and natural history of gout9. Correlate the diagnostic criteria for gout and discuss the hematologic, radiologic,

pathological findings of synovial fluid10. Describe the pharmacology of drugs commonly used for gout

Case 7

1. The cellular response to injury

2. The difference between cell normal and injury3. The difference between reversible and irreversible cell injury4. The alteration of cell in response to acute and chronic stimulation5. The difference between necrosis and apoptosis6. Cellular growth differentiation and measuration as cellular adaptation7. The cell cycle of mechanism involve in healing, repair, and neoplasia8. The main controlling factors of true aging

Case 8, oncogens

1. Describe the concepts of proto-oncogenes, oncogenes, & surveillance

2. The factors which induce uncontrolled cellular growth3. Various carcinogenesis & describe how they influence cell growth4. Describe how changes in DNA and RNA result in uncontrolled cellular

growth5. Explain the difference between mitosis and meiosis6. Common risk factors for breast cancer7. Describe types and mechanism of cell signaling which can cause ca8. Describe genetic abnormalities which can occur in breast ca9. Describe the significance of BRCA gene mutation10. Significance of negative status of estrogen receptor and the role of HER-

2/neu over expression in breast CA development11. The risks for Niluhs daughters developing breast CA

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