Study Guide for lesson 2.2 (Decoding a Diagnosis & New to Practice)

Principles of Biomedical Science

Study Guide for lesson 2.2 (Decoding a Diagnosis & New to Practice)

Careers

• Primary Care Physician

• Pediatrician

• Medical Technician

• Nurses (LPN, RN, NP)

• Phlebotomist

• Dermatologist

• Hematologist

• Patient Liaison

• Cytopathologist

• Geneticist

• Cytogeneticist

• Molecular Biologist

By the end of lessons 2.2-3, you should know or be able to:

• Describe briefly the difference between a new and existing patient in taking history and possibly investigation.

• Describe briefly the difference between acute and chronic.

• Review the structure of eukaryotic cells.

• Describe the stages of mitosis and main event in each of them

• Describe the stages of meiosis and main event in each of them

• Explain the difference between mitosis and meiosis regarding the stages,  number of divisions, number of cells and number of chromosomes at the end of each.

• Describe the main microscopic features of malignant cells with regard to mitosis, size and shape, nucleus, arrangement,  and specialized features.

• Describe the four major types of tissues with examples of each

• List two types of skin cancer

• Identify basal cell carcinoma under the microscope

• Describe the process of making a differential diagnosis

• Describe some of the functions of proteins.

• Describe the location of NF-1, mode of inheritance, and effect of mutation.

• Describe the functional category of neurofibromin and its effect on cellular division, then use it to describe and explain some clinical features of  neurofibromatosis-1.

• Read the codon chart.

• Explain the meaning of transcription and translation and the location of each.

• Summarize the relationship between DNA, mRNA, and proteins.

• Describe types of mutations and list some mutagens.

• Be able to use and interpret pedigrees to figure out the mode of inheritance

• Be able to to use and interpret Punnett squares to calculate possibilities of genotypes

• Describe the difference between phenotype and genotype

• Describe the difference between autosomal and sex-linked

• Describe the difference between dominant and recessive

• Make a short list of differentials for a child that is not meeting their growth curve

• Be able to interpret karyotyping

• Describe the number of chromosomes in normal karyotype

• Describe the mode of inheritance of FH, the main clinical and laboratory findings, and treatment options.

• Explain how the class of medications called statins works to lower cholesterol levels in the body.

• Describe briefly the karyotype and some clinical features of Turner Syndrome, Cri Du Chat, and PKU.

• Give some recommendations to maintain health in diabetes

Ethics

• Reflect on the process of delivering news to patients. How do doctors deliver bad news? Why is telling the truth important?

• Reflect on the pros and cons of genetic testing.

• Reflect on the history of HeLa cells and the ethics of research.

Essential Questions

• How does differential diagnosis help a doctor determine appropriate treatments for their patient?

• What extra steps do you need to take with a new patient?

• What is the difference between eukaryotic and prokaryotic cells? What is an example of each?

• What are the main differences between mitosis and meiosis? Where does each one happen?

• What is the purpose of mitosis and meiosis?

• What characteristics can help you determine whether a tissue sample has healthy or cancerous cells?

• What is the NF-1 gene? Where is it located? What is the mode of inheritance?

• What type of protein is neurofibromin? What are the effects of a dysfunctional neurofibromin?

• Describe the difference between DNA and RNA regarding structure, function, and location

• What is a start codon? What is a stop codon?.

• How many types of RNA are there? What is the location and function of each?

• What happens when there is a change to the sequence of DNA bases that make up a gene? How does this affect the protein the gene codes for? How does this affect the individual in which the change occurred?

• What are the types of mutations you know of?

• What are some examples of mutagens that you know of?

• What is karyotype used for? What are the basic steps of karyotyping?

• Explain why being able to view chromosomes from an individual is a useful tool for scientists and medical professionals.

• Can mutations be diagnosed by karyotyping? Why or why not?

• Which process do you think offers a greater chance of nondisjunction—mitosis or meiosis? Explain your answer.

• What is the mode of inheritance of FH? What are the main clinical and laboratory findings? What are the treatment options?

• How do statins work?

• What are the benefits of collaborating with a patient on the development of their care plan?

• Why is informed consent important?

• What is diabetes? What is the difference between type 1 and type 2?

• Why is glucose monitoring important in diabetes?

• What are some recommendations to maintain health in diabetes, as well as treatment options?

• What is HIPAA, what kinds of information are protected and when can information be shared?

• What are the stages of Mitosis?

• What is the purpose of Mitosis? What happens to chromosomes during this process?

• What makes cancer cells different from normal cells?

• What are the basic categories of protein functions?

• Where does each process take place? What are the products? What enzymes, organelles or molecules are involved with each?
  
  

Vocabulary:

• MRI

• Eukaryotic vs. prokaryotic

• Somatic vs sex cell

• Meiosis vs mitosis

• Homologous chromosomes

• Chromatids

• Centromere

• Benign vs malignant

• Metastases

• Locally malignant

• Tumor

• Cancer

• Biopsy

• Epithelial tissue

• Connective tissue

• Muscle tissue

• Nervous tissue

• Basal cell carcinoma

• Differential diagnosis

• Genetic disorders

• Protein primer

• Genetic testing

• DNA

• rRNA, mRNA, and tRNA

• Nucleotide

• Nitrogenous bases: Adenine, thymine, cytosine, guanine & Uracil

• Single and double stranded

• Double helix

• DNA replication

• Transcription

• Translation

• PCR

• Restriction enzymes

• Electrophoresis

• Complementary 

• Codon

• Start codon (AUG)

• Stop codons 

• Mutation

• Mutagen

• Substitution, insertion & deletion

• DNA sequencing

• Dominant vs recessive

• Alleles

• Pedigrees

• Punnett squares

• Hormone

• Endocrine

• Hypothalamus

• Pituitary

• Thyroid

• Adrenal gland

• Ovary and testis

• Insulin

• Growth hormone

• Steroid hormones

• Chromosomal disorder

• Nondisjunction

• Karyotyping

• Turner syndrome

• Transposable elements (TE)

• HeLa cells

• Direct-to-consumer (DTC) gene testing

• Familial hypercholesterolemia

• Statins

• Cri du chat syndrome

• Phenylketonuria (PKU)

• Care Plan

• Informed consent

• Continuous glucose monitoring (CGM)

• Diabetes type 1 & 2