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 (PCP)

  Role: Provides general healthcare, diagnosing and treating a variety of illnesses, and offering preventive care. Often serves as the first point of contact for patients.

  Pediatrician

  Role: Specializes in medical care for infants, children, and adolescents. They diagnose childhood illnesses, monitor growth, and provide vaccinations.

  Medical Technician

  Role: Performs diagnostic tests under supervision. Specialties can include lab work, radiology, or cardiovascular technology.

  Nurses (LPN, RN, NP)

  Licensed Practical Nurse (LPN): Provides basic care like checking vital signs and assisting with daily activities.

  Registered Nurse (RN): Provides comprehensive care, administers medications, and coordinates patient care plans.

  Nurse Practitioner (NP): An advanced role with authority to diagnose, prescribe medication, and manage patient treatment.

• phlebologist

  Role: Specializes in drawing blood for tests, transfusions, or donations. Ensures patient comfort during procedures.

• dermatologist

  Role: Diagnoses and treats skin, hair, and nail conditions. They also manage cosmetic concerns and skin cancer treatment.

  Hematologist

  Role: Specializes in diagnosing and treating blood disorders, such as anemia, leukemia, and clotting issues.

  Patient Liaison

  Role: Acts as a communication bridge between patients, families, and healthcare staff to ensure clear understanding of treatments and services.

  Cytopathologist

  Role: Examines cells under a microscope to detect diseases like cancer or infections. Often involved in analyzing biopsies and Pap smears.

  Geneticist

  Role: Studies genes, heredity, and genetic disorders. May conduct research or provide genetic counseling for patients with inherited conditions.

  Cytogeneticist

  Role: Specializes in studying chromosomes and their role in genetic conditions. Often identifies genetic abnormalities in cells.

  Workplace: Labs, hospitals, or research institutions.

  Molecular Biologist

  Role: Studies the structure and function of biological molecules like DNA, RNA, and proteins to understand cell processes and genetics.

  Workplace: Research labs, pharmaceutical companies, or biotechnology firms.

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.

  • For new patients, a comprehensive history and physical examination are needed, while for established patients, a focused history and examination may suffice, with routine chart review and updates

• Describe briefly the difference between acute and chronic.

  • acute= conditions that develop suddenly and are short lived

  • chronic= denotes conditions that develop slowly and persist for a long time, often requiring ongoing management

• Review the structure of eukaryotic cells.

• 

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

  • 1) interphase, DNA replicants so that there are two copies of each chromosomes. Each identical copy is referred to as a sister chromatid

  • 2) Prophase, chromosomes condense and become visible under a light microscope. They pair up with their sister chromatids. Mitotic spindle form and the nucleus disappears

  • 3.) Metaphase, chromosomes line up at the center of the cell, fibers attach to each of the sister chromides and will pull each chromatid to opposite poles of the cell

  • 4) anaphase, each chromosomes separate and sister chromatids are pulled tot the opposite poles of the cell

  • 5) telophase and cytokinesis, the cell spilites into two, each new daughter cell looks identical to the original cell

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

  • Prophase I- chromosomes pair up with their matching chromosomes called homologous chromosomes

  • metaphase I- homologous chromosomes line up at the center of the cell. Fibers attach to each of the homologous chromosomes that will pull each chromosomes to opposite poles of the cell

  • anaphase I- each chromosome separates and the homologous chromosomes are pulled to the opposite poles of the cell

  • telophase and cytokines- cell spites into two daughter cells one identical looks but genetically different than the original

  • prophase II- chromatids pair up with homologous chromosomes

  • metaphase II- chromosomes line up in the center fibers attach to the sister chromatids and pull to opposite poles

  • anaphase II- chromosomes separate, sister chromatids pulled to opposite poles

  • telophase II+ cytokinesis II, nucleus forms around each set of chromosomes. Cytokinesis takes place produces four daughter cells, each with half the amount of chromosomes of original cells

• 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.

• purpose:

  • meiosis- sex cells

  • mitosis- body cells

• number of division:

  • meiosis- two

  • mitosis- one

• number of daughter cells:

  • meiosis- 4

  • mitosis- 2

• chromosomes in daughter cell:

  • meiosis- 23

  • mitosis- 46

• crossing over:

  • meiosis- yes

  • mitosis- no

• generic variation:

  • meiosis- yes

  • mitosis- no

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

• 

  • cell divison:

    - healthy cell: organize and die after limited number of cell division

    - cancer cell: divide indefintely and irregular shape, number and size

  • size and shape:

    • h: distic shape depending on cell type and set size

    • c: morphological changes and show different shapes and sizes

  • nucleus:

    • h: small nucleus, shape corresponds to cell type

    • c: more than one nucleus, large nucleus, varied shape, less cytoplasm

  • Specialized Feature:

    • h: control special function

    • c: lose specailied features and prevents from properly functioning

  • arrangment:

    • h: organized, close proxitamy to sotp multiplying boundlesly

    • c: no stopping, stack on top of eachother

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

  • nervous-brain, spinal cord, nerves

  • epithelial- skin and linings

  • muscle-skeletal msucle, smooth muslcles, cardiac muscle

  • connective-bone, cartilage, tendons

• List two types of skin cancer

  • basal cell carcinoma

  • squamous cell carcinoma

• Identify basal cell carcinoma under the microscope

• 

• 

  Describe the process of making a differential diagnosis

  • look at the individuals medical history, current symptoms, results of physical exams, routine testing, and blood work

  • develop first list of possible diseases or disorders based on the info

  • use info to plan out next steps to help rule out possible conditions and work to a final diagnosis

• Describe some of the functions of proteins.

  • diving cellular reactions

    • digestion

    • biosynthesis:building cellular components like dna and rna, cell membranes

    • controling cell growth and division

  • providing defense

    • defensive protiens(antibodies) combain with forign invaders to the body

    • building structues

      • support protines buid structues

  • transport materials

    • carry essential nutrients and gasses through the body

      • example: hemoglobin

    • carry cellular waste for disposal

  • coodinating cellular activites

    • hormones protiens help maintain homeostasis

      • insulin, blood gluclose levels

    • sensory protines are used to interpret our enviorments(taste, smell, sound)

  • movement

    • motor and contractile protines,(actin and mysoin), found in muscles and used during cell division, help cells move

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

  • Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, located on chromosome 17, and follows an autosomal dominant inheritance pattern, meaning only one mutated copy is needed to cause the condition. These mutations disrupt the function of the neurofibromin protein, a tumor suppressor, leading to increased risk of developing benign and malignant tumors.

• 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.

  • Neurofibromin, encoded by the NF1 gene, is a tumor suppressor protein that regulates cell growth and division by negatively regulating the Ras signaling pathway. Loss of neurofibromin function due to NF1 mutations can lead to uncontrolled cell proliferation and the development of neurofibromas, a hallmark of Neurofibromatosis type 1 (NF1).

• Read the codon chart.

  

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

  • transcription- the synthesis RNA from a template, DNA to RNA in the Nucleus

  • Translation- RNA is translated into amino acids and then to a protein, in the cytoplasm

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

  • DNA, mRNA, and proteins are linked by the central dogma of molecular biology: DNA stores genetic information, which is transcribed into mRNA, and then mRNA is translated into proteins.

• Describe types of mutations and list some mutagens

  • substitution- one DNA base is exchanged for another and only affects one codon.

  • insertions- one DNA base is inserted into a gene sequence, example of a frame shift mutation

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

  • not filled in means it is not affected by a gene and does not express the associated trait

  • filled in: affected by gene and expresses the associated trait

  • ½ filled in: carrier of the gene but does not show the traits that are associated to the gene

  • Inheritance patterns

    • autosomal dominant: one mutated allele is sufficient to symptoms in the individual. Mutated allele is considerent dominant because the disease trats are experienced with one dysfunctional allele

    • autosomal recessive: two mutated alle are required for the indiviual to experience disease symptoms. If a patient inherits only one mutated allele, the only one mutated allele the dominant allele compensates and the indiviual does not express symptoms

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

• Describe the difference between phenotype and genotype

  • genotype refers to an organism's genetic makeup (the specific genes or alleles it carries), while

  • phenotype refers to the observable characteristics or traits resulting from the interaction of that genotype with the environment.

• Describe the difference between autosomal and sex-linked

  • Autosomal traits are determined by genes on non-sex chromosomes (autosomes), while sex-linked traits are determined by genes on sex chromosomes (X and Y).

• Describe the difference between dominant and recessive

  • a dominant trait expresses itself even when only one copy of the allele is present, while a recessive trait only appears when two copies of the allele are present.

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

  • family history

  • nutrition

  • major organ failure

  • abnormal hormone levels

  • chromosome activites

• Be able to interpret karyotyping

• Describe the number of chromosomes in normal karyotype

  • 23 chromosomes pairs of two and two sex chromosomes

  • (XX in females, XY in males)

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

  • Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder causing elevated LDL cholesterol, leading to increased risk of heart disease. It's typically inherited from one parent, but can be more severe if inherited from both

  • Statins. This class of drugs reduces LDL cholesterol levels. ...

    Bile acid sequestrants. ...

    PCSK9 inhibitors. ...

    LDL apheresis. ...

    Liver transplantation.

  • Lifestyle Modifications:

    Healthy Diet: A diet low in saturated and trans fats, and cholesterol, is crucial.

    Regular Exercise: Physical activity helps to improve cholesterol levels and overall cardiovascular health.

    Weight Management: Maintaining a healthy weight can reduce the risk of heart disease.

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

  • Statins, also known as HMG-CoA reductase inhibitors, work by blocking an enzyme (HMG-CoA reductase) in the liver that's crucial for cholesterol production, thus reducing the amount of cholesterol the liver makes and lowering LDL ("bad") cholesterol levels in the blood.

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

  • Turner Syndrome:

    Karyotype:

    Characterized by a missing or partially missing X chromosome in females (45,X0 or mosaic karyotypes).

    Clinical Features:

    Short stature, delayed puberty, infertility, and potential heart defects, webbed neck, low hairline, and learning difficulties.

    • Cri-du-Chat Syndrome:

    Karyotype: Caused by a deletion of the short arm (p) of chromosome 5 (46,5p-).

    Clinical Features: A high-pitched, cat-like cry, low birth weight, microcephaly, developmental delays, and distinctive facial features.

    • Phenylketonuria (PKU):

    Karyotype:

    PKU is not a chromosomal disorder; it's caused by a genetic mutation on chromosome 12 (12q22-24) that leads to a deficiency in the enzyme phenylalanine hydroxylase.

    Clinical Features:

    Accumulation of phenylalanine, leading to intellectual disability, seizures, and developmental problems if not managed early with a special diet.

• Give some recommendations to maintain health in diabetes

  • To maintain good health with diabetes, focus on a healthy lifestyle that includes a balanced diet, regular physical activity, consistent medication adherence, regular blood sugar monitoring, and managing stress, along with regular check-ups with your healthcare team.

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.

  • healthcare decisions, and personalized treatment plans, but also poses risks including emotional distress, privacy concerns, and the possibility of genetic discrimination.

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

  • The HeLa cell line, derived from Henrietta Lacks' cervical cancer cells without her consent, revolutionized medical research but raises profound ethical questions about informed consent, privacy, and the exploitation of vulnerable populations, highlighting the need for transparency and respect in scientific advancements.

Essential Questions

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

  • Differential diagnosis helps doctors determine appropriate treatments by creating a list of potential conditions explaining a patient's symptoms, then using tests and examinations to narrow down the possibilities and find the most likely cause, leading to a more accurate diagnosis and effective treatment plan.

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

  • gather family history

  • lifestyle

  • medical history

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

  • Eukaryotic cells have a membrane-bound nucleus and organelles, while prokaryotic cells lack these structures, making them simpler and smaller. Examples of eukaryotic cells include animal and plant cells, while bacteria and archaea are examples of prokaryotic cell

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

  • mitosis is nonsex cells division and everything is uniform

  • meiosis is for sex cells

    • purpose:

      • meisosis- sex cells

      • metosis- body cells

    • number of division:

      • meisosis- two

      • mitosis- one

    • number of daughter cells:

      • meisosis- 4

      • mitosis- 2

    • chromosomes in daughter cell:

      • meosis- 23

      • mitosis- 46

    • crossing over:

      • meiosis- yes

      • mitosis- no

    • genetric variation:

      • meosis- yes

      • mitosis- no

    • mitosis:

      • 1) interphase, DNA replicants so that there are two copies of each chromosomes. Each identical copy is referred to as a sister chromatid

      • 2) Prophase, chromosomes condense and become visible under a light microscope. They pain up with their sister chromatids. Mitotic spindle form and the nucleus disappears

      • 3.) Metaphase, chromosomes line up at the center of the cell, fibers attach to each of the sister chromides and will pull each chromatid to opposite poles of the cell

      • 4) anaphase, each chromosomes separate and sister chromatids are pulled tot the opposite poles of the cell

      • 5) telophase and cytokinesis, the cell spilites into two, each new daughter cell looks identical to the original cell

    • meiosis:

      • Prophase I- chromosoems pair up with their matching chroosomes called homologous chromosomes

      • metaphase I- homologous chromosomes line up at the center of the cell. Fibers attach to each of the homologous chromosomes that will opull each chromosomes to opposite poles of the cell

      • anaphase I- each chromosome seperates and the homologous chromosomes are pulled to the opposite poles of the cell

      • telophase and cytokines- cell spites into two daughtr cells one identical looks but genetically different than the original

      • prophase II- chromotids pair up with homologus chromosomes

      • metaphase II- chromosomes line up in the center fibers attact tothe sister chromotids and pull to opposite poles

      • anaphase II- chromosomes seperate, sister chromatids pulled to opposite poles

      • telophase II+ cytokinesis II, nucleus fomrs around each set of chromosomes. Cytokenesis takes place produces four daughter cells, each with half the amount of chmosomes of orginal cells

• What is the purpose of mitosis and meiosis?

  • Mitosis facilitates growth, repair, and asexual reproduction by producing two identical daughter cells,

  • while meiosis generates gametes (sperm and egg) with half the number of chromosomes for sexual reproduction and genetic diversity.

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

  • cell division

  • arrangement

  • special characteristics

  • nucleus

  • shape and size

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

  • Neurofibromatosis type 1 (NF1) is a genetic disorder that causes tumors to grow along nerves in the skin, brain, and other parts of the body, along with changes in skin pigmentation.

    • The NF1 gene, responsible for Neurofibromatosis type 1, is located on chromosome 17 and encodes the protein neurofibromin, which acts as a tumor suppressor. NF1 is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene is sufficient to cause the condition. 

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

  • Neurofibromin is a GTPase-activating protein (GAP) that acts as a tumor suppressor by negatively regulating the Ras signaling pathway,

  • and a dysfunctional neurofibromin can lead to uncontrolled cell growth and development of tumors, including neurofibromas, and other health problems.

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

  • dna: double-stranded helix containing deoxyribose sugar and thymine, primarily residing in the nucleus

  • RNA: single-stranded with ribose sugar and uracil, functioning in the cytoplasm and nucleus, and involved in protein synthesis

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

  • a start codon (AUG) signals the beginning of protein synthesis

  • stop codons (UAA, UAG, or UGA) mark the end. 

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

  • mRNA-carrying genetic code from DNA to ribosomes

  • tRNA-delivering amino acids to ribosomes

  • rRNA-forming the structural and catalytic core of ribosomes, facilitating the translation of mRNA into proteins

• 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?

  • when you change the sequence of the bases then the translation into RNA will change, this will change the amino acids that were going to be made into proteins which means the protein itself could be changed. The function will changed or misfunctioning, and can impact the individuals health

• What are the types of mutations you know of?

  • point mutations (single base changes),

  • insertions/deletions (adding or removing bases),

  • chromosomal mutations (changes in chromosome structure)

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

  • tobacco products,

  • radioactive substances,

  • X-rays,

  • ultraviolet radiation,

  • certain chemicals like base analogs and intercalating agent

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

  • Karyotyping, a cytogenetic technique, is used to examine chromosomes for abnormalities in number or structure, helping diagnose genetic disorders and conditions like Down syndrome or Turner syndrome. The basic steps involve obtaining cells, culturing them to induce cell division, staining the chromosomes, photographing them, and then arranging the chromosomes in pairs to create a karyogram.

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

  • Viewing an individual's chromosomes, through techniques like karyotyping, is a crucial tool for scientists and medical professionals because it allows for the identification of genetic disorders, understanding inheritance patterns, and aiding in prenatal screening and cancer research.

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

  • cannot detect single-gene mutations or very small deletions/duplications because chormosomes are bigger and can be seen while the dna bases are to small

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

  • meiosis because it under goes each process twice thus more opportunities

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

  • autosomal dominant disorder, meaning a single copy of the altered gene is sufficient to cause the condition, and it's characterized by elevated LDL cholesterol levels, often leading to early-onset heart disease.

  • Lifestyle Modifications:

    A heart-healthy diet, regular exercise, and weight management are essential components of FH management.

    Lipid-Lowering Medications:

    Statins: These are the first-line treatment for lowering LDL cholesterol levels.

    Ezetimibe: This medication helps to reduce cholesterol absorption in the gut.

    PCSK9 Inhibitors: These newer medications are highly effective at lowering LDL cholesterol and are often used in combination with statins.

    Other Medications: Bile acid sequestrants and fibric acid derivatives may also be used in some cases.

• How do statins work?

  • Statins are a class of medications that lower cholesterol levels in the blood. They work by inhibiting an enzyme called HMG-CoA reductase, which is involved in the production of cholesterol in the liver.

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

  • Collaborating with patients on their care plan development leads to improved patient outcomes, enhanced satisfaction, and increased adherence to treatment plans, while also fostering trust and better communication between patients and healthcare providers.

• Why is informed consent important?

  • Collaborating with patients on their care plan development leads to improved patient outcomes, enhanced satisfaction, and increased adherence to treatment plans, while also fostering trust and better communication between patients and healthcare providers.

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

  • Diabetes is a condition where blood sugar levels are too high.

  • Type 1 diabetes is an autoimmune disease where the body attacks and destroys insulin-producing cells

  • type 2 diabetes is characterized by insulin resistance and/or insufficient insulin production.

• Why is glucose monitoring important in diabetes?

  • Blood glucose monitoring is an essential part of management in clients with diabetes mellitus. Very high or very low blood glucose levels could impair cellular function and may be lethal if not managed appropriately.Apr 23, 2023

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

  • Make and eat healthy food.

  • Be active most days.

  • Test your blood sugar often.

  • Take medicines as prescribed, even if you feel good.

  • Learn ways to manage stress.

  • Cope with the emotional side of diabetes and learn to manage stress.

  • Go to checkups.

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

  • The Privacy Rule protects all "individually identifiable health information" held or transmitted by a covered entity or its business associate, in any form or media, whether electronic, paper, or oral. The Privacy Rule calls this information "protected health information (PHI)."5 days ago

  • HIPAA, the Health Insurance Portability and Accountability Act, protects patient health information (PHI) and sets standards for its handling, storage, and transmission.

  • Sharing PHI between healthcare providers to coordinate care is permitted.

  • payment

  • individual

  • family and friends if patient is unable to

• What are the stages of Mitosis?

  • prophase, metapahase, anapahse, and telephase

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

      • Mitosis ensures the creation of two identical daughter cells from a single parent cell, vital for growth, repair, and asexual reproduction, by replicating and then separating chromosomes equally. 

• What makes cancer cells different from normal cells?

  • Cancer cells differ from normal cells in several key ways, including uncontrolled growth and division, ignoring signals to stop dividing or die, and the ability to invade and spread to other areas of the body.

• What are the basic categories of protein functions?

  • Proteins perform a wide array of functions, broadly categorized as

    • structural,

    • catalytic (enzymes),

    • signaling,

    • transport,

    • defense,

    • and storage. 

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

Vocabulary:

• MRI- a medical imaging technique that uses a strong magnetic field and radio waves to create detailed images of internal organs and tissues, without using radiation.

• Eukaryotic vs. prokaryotic-

  • Here's a table summarizing the key differences:

    Feature	Eukaryotic Cells	Prokaryotic Cells
    Nucleus	Present (membrane-bound)	Absent
    Organelles	Present (membrane-bound)	Absent (except ribosomes)
    DNA	Linear, within the nucleus	Circular, in the nucleoid
    Examples	Animals, plants, fungi, protists	Bacteria, archaea

• Somatic vs sex cell

  • Somatic cells are the body's non-reproductive cells, while sex cells (or gametes) are reproductive cells (sperm and egg) involved in sexual reproduction, with somatic cells being diploid and sex cells being haploid.

• Meiosis vs mitosis

  • Mitosis is cell division for growth and repair, producing two identical daughter cells, while meiosis is cell division for sexual reproduction, producing four genetically unique, haploid gametes (sperm and egg).

• Homologous chromosomes

  • pairs of chromosomes that have the same genes in the same order, but may have slight variations.

• Chromatids

  • one of the two identical halves of a chromosome that has been replicated in preparation for cell division

• Centromere

  • a constricted region on a chromosome that connects sister chromatids,

• Benign vs malignant

  • b: noncancerous

  • M: cancerous

• Metastases

  • the spread of cancer cells from their original (primary) site to other parts of the body

• Locally malignant

  • the presence of cancerous cells that have the ability to spread to other sites in the body (metastasize) or to invade nearby (locally) and destroy tissues

• Tumor

  • an abnormal growth of tissue that can be either benign (non-cancerous) or malignant (cancerous), formed when cells grow and divide more than they should or don't die when they should

• Cancer

  • Cancer is a large group of diseases that can start in almost any organ or tissue of the body when abnormal cells grow uncontrollably, go beyond their usual boundaries to invade adjoining parts of the body and/or spread to other organs.

• Biopsy

  • A biopsy is a medical procedure where a small sample of tissue or cells is removed from the body for examination under a microscope.

• Epithelial tissue

  • a type of body tissue that covers and lines various surfaces in the body, including the skin, organs, and cavities

• Connective tissue

  • a diverse group of tissues that provide support, structure, and protection to the body

• Muscle tissue

  • Muscle tissue is composed of cells that have the special ability to shorten or contract in order to produce movement of the body parts. The tissue is highly cellular and is well supplied with blood vessels.

• Nervous tissue

  • a type of specialized tissue that forms the central and peripheral nervous systems.

• Basal cell carcinoma

  • a common type of skin cancer that originates in the basal cells, which are the deepest layer of the epidermis (outer layer of the skin).

• Differential diagnosis

  • the process of differentiating between two or more conditions which share similar signs or symptoms.

• Genetic disorders

  • conditions caused by changes in an individual's genes or chromosomes

• Protein primer

  • a small protein that acts as a starting point for DNA or RNA synthesis, providing the necessary hydroxyl group for the polymerase to initiate the process, particularly in linear genomes where RNA priming is not feasible.

• Genetic testing

  • a medical procedure that analyzes a person's DNA to identify changes or mutations in their genes

• DNA

  • genetic information

• rRNA, mRNA, and tRNA

  • mRNA carries the genetic code from DNA,

  • tRNA transports amino acids,

  • rRNA forms ribosomes, the sites of protein synthesis.

• Nucleotide

  • a molecule that is the basic unit of DNA and RNA, the nucleic acids that carry genetic information.

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

• Single and double stranded

  • s= rna

  • d=dna

• Double helix

  • arises from the way its two polynucleotide chains, held together by hydrogen bonds between complementary nitrogenous bases, wind around each other to form a spiral staircase shape, maximizing efficiency of base-pair packing

• DNA replication

  • the process of copying DNA so that cells have identical copies before dividing

• Transcription

  • the process by which a cell makes an RNA copy of a piece of DNA

• Translation- RNA is translated into amino acids and then to a protein, cytoplasm

• PCR- DNA copy machine

• Restriction enzymes- cut enzymes in spots

• Electrophoresis- electric current that runs through the dna samples to help compare them

• Complementary- a relationship where two structures, like DNA strands or enzyme-substrate pairs, fit together like a lock and key, with specific bases pairing in DNA or specific shapes and charges matching in other biological contexts

• Codon- sequence of 3 mRNA bases that codes for one amino acid

• Start codon (AUG)

• Stop codons 

• Mutation- change in genetic sequence

• Mutagen- thing that causes mutations

• Substitution, insertion & deletion

• DNA sequencing- a process that determines the order of nucleotides (A, T, C, and G) in a DNA molecule, revealing the genetic information encoded within

• Dominant vs recessive

  • d: phenotype is seen in a indivual who only has one copy of the gene associated with the trait Capital

  • r: inherits two copies of a recessive allele for a specific gene Lowercase

• Alleles

  • alternative forms of a gene or variations

• Pedigrees

  • diagram that shoes occurrence of phenotype through several generations of genetically related individuals

• Punnett squares- diagram to discover all potential combinations of an offspring’s genotype given the parents genotype

• Hormone

  • chemical messenger that helpes in growth and development

• Endocrine

  • The endocrine system is a network of glands and tissues that produce and release hormones

• Hypothalamus

  • The hypothalamus secretes hormones that stimulate or suppress the release of hormones in the pituitary gland, in addition to controlling water balance, sleep, temperature, appetite, and blood pressure.

  • Pituitary

    • pea sized endocrine gland at the base of the brain

• Thyroid

  • a small, butterfly-shaped endocrine gland located in the front of the neck, below the Adam's apple

• Adrenal gland

  • two small, triangular-shaped organs located on top of the kidneys

• Ovary and testis

  • sex organs

• Insulin

  • a hormone produced by the pancreas that plays a crucial role in regulating blood sugar levels.

• Growth hormone

  • stimulates growth cell reproductions and cell regenerations. It is also responsible for increasing height during childhood

• Steroid hormones

  • help control metabolism, inflammation, immune functions, salt and water balance, development of sexual characteristics

• Chromosomal disorder

  • genetic conditions that occur when there is a change in the number or structure of chromosomes.

• Nondisjunction

  • when chromosomes fail to separate and can result in a cell with two of the same chromoes and one with no copy

• Karyotyping

  • seeing the secqunece of chromosomes in an indiviual

• Turner syndrome

  • is a genetic disorder that affects females, characterized by the absence or partial deletion of one X chromosome.

• Transposable elements (TE)

  • DNA sequences that can move from one location on the genome to another

• HeLa cells

  • they were the first immortal human cell line, meaning they can grow and divide indefinitely in a lab, and their unique properties have been crucial for countless medical advancements, including vaccine development and cancer research.

• Direct-to-consumer (DTC) gene testing

  • allows individuals to order and receive genetic tests directly from companies, offering insights into ancestry, health risks, and traits, without needing a healthcare provider's involvement.

• Familial hypercholesterolemia

  • a genetic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol in the blood

• Statins

  • a class of medications that lower cholesterol levels in the blood.

• Cri du chat syndrome

  • a rare genetic disorder caused by a deletion of a portion of chromosome 5

• Phenylketonuria (PKU)

  • A birth defect that causes an amino acid called phenylalanine to build up in the body.

    Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures.

• Care Plan

  • a document that outlines a person's health conditions, specific care needs, and current treatments, helping to organize and prioritize caregiving activities.

• Informed consent

  • patient is given sufficient information about a medical procedure or treatment to make an educated and voluntary decision about whether or not to proceed.

• Continuous glucose monitoring (CGM)

  • a technology that allows people with diabetes to continuously monitor their blood glucose levels without the need for finger pricks.

• Diabetes type 1 & 2

  • in diabetes type 1, the pancreas does not make insulin, because the body's immune system attacks the islet cells in the pancreas that make insulin.

  • In diabetes type 2, the pancreas makes less insulin than used to, and your body becomes resistant to insulin.