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PMS Final
includes everything (cancer lecture- only patho) but last lecture---got too tired of making flashcards..ha
174
Agriculture
2nd Grade
06/03/2010

Additional Agriculture Flashcards

 


 

Cards

Term

What percentage of your blood is cellular?

Related to cellular, what is the composition of the cellular portion?

 

What percent of blood is fluid? What does that component consist of?

Definition

What percentage of your blood is cellular? 40-48%

Related to cellular, what is the composition of the cellular portion? RBC, WBC, Platelets

 

What percent of blood is fluid? 52-60%

 

What does that component consist of? Plasma and serum

Term
What are the functions of blood? (4)
Definition

transport

defense

Regulation of body temperature

Hemostasis

Term

What are the stimulators that promote hematopoiesis?

 

What is the name of the cell that responds to perceived metabolic needs in commitment to specific cell line production?

Definition

What are the stimulators that promote hematopoiesis?

Erythropoietin

Leukopoetin

Thrombopoetin

cytokines

interleukins

 

What is the name of the cell that responds to perceived metabolic needs in commitment to specific cell line production?

PURIPOTENTIAL STEM CELL


Term
What stimulates erythropoiesis?
Definition
hypoxia
Term

What are sites of erythropoiesis in an adult vs a fetus?

 

Adult (4)

 

Fetus (5)

Definition

Sites—Adult

Bone marrow of axial skeleton, proximal epiphyses of long bones, skull; lymph nodes

Sites—Fetus

Yolk sac, placenta→bone marrow, spleen, liver, lymph nodes

Term

What type of cell is released to replace senescent RBCs?

 

Are they slightly larger or smaller than mature RBCs?

 

How would you describe the MCHC of this type of cell?

Definition

What type of cell is released to replace senescent RBCs? RETICULOCYTES ("adolescent")

 

Are they slightly larger or smaller than mature RBCs?

 slightly larger

 

How would you describe the MCHC of this type of cell?

polychromatophilic

Term
Describe the morphology of a NORMAl RBC. (2)
Definition

biconcave disc

 

Reversible deformability

Term

What is a senescent erythrocyte?

 

Who helps to remove it from circulation?

 

 

What protein helps to recycle it?

 

It's part of what type of production?

Definition

What is a senescent erythrocyte? aged, damaged, abnormal RBC's removed from circulation

 

Who helps to remove it from circulation?

 Macrophages of spleen, liver, BM

 

What protein helps to recycle it? transferrin; iron (stored in tissues as ferritin), globin

 

It's part of what type of production? bilirubin production

Term
Check out diagram of Iron cycle from Pepe lecture
Definition
Term
What are the 4 types of hemoglobin?
Definition

Hgb A, 2 alpha, 2 beta

 

 

Hgb A2, 2 alpha 2 delta

 

Hgb F (predom Hgb in fetus), 2 alpha, 2 gamma

 

HgbS: 2 alpha, 2 beta (substitution of valine for glutamic acid)

Term

What does hematocrit measure?

 

What does hemoglobin measure?

Definition

Hematocrit: mesure of packed red cell volume

 

Hgb: measure of total amt hgb in blood

Term

What is the composition of a RBC?

 

 

Definition

Globin molecule: 2 pairs of amino acid chains

type of Hgb based on AA pairs

 

4 heme units: contain iron

Term

What are the RBC indices?

 

What do they measure?

Definition

MCV: avg volume (size) of single RBC

 

MCH: avg RBC mass

 

MCHC: concentration of hgb in single RBC

Term

What are type sof blood abnormalities?

 

(3)

Definition

hemochromatosis (overload of iron)

cab be primary (genetic)

secondary (ie. alcoholism)

 

Polycythemia

Primary

Secondary: ie. COPD

 

Anemia

decreased RBC or Hgb OR BOTH

categorize based on RBC indices

Term
What are three manifestations of anemia?
Definition

Impaired O2 transport and recruitment of compensatory mechanisms

 

Alterations in Hgb levels and red cell number and appearance

 

Signs and sxs assoc with the pathologic process that is causing the anemia

Term

How would you describe morphology changes in RBC?

 

(2)

 

Definition

Anisocytosis: size

 

poikilocytosis: shape

Term

ANEMIA:

 

What are pathologies causing impaired production?

 

 

What are pathologies leading to excessive loss/increased destruction?

Definition

What are pathologies causing impaired production?

lack building blocks, stimulators

abnormal genetic code

 

What are pathologies leading to excessive loss/increased destruction?

Abnormal genetic code

Intravascular

Extravascular

Term
What are examples of chronic diseases causing anemia?
Definition
  • AIDS
  • osteomyelitis
  • chronic renal failure
  • RA
  • sequestering iron in the psleen and contribute to RBC destruction
  • lymphocytes release cytokines that suppress erythropoietin production and action
Term

What are causes of hemolytic anemia?

 

(4)

Definition

Intravascular hemolysis: may be due to transfusion reaction, mechanical injury, toxins

 

Extravascular hemolysis: when abnormal RBCs are phagocytized in the spoleen as in sick cell anemia

 

Intrinsic causes may be due to defects in RBC mebranes, hemoglobinapathies, inherited defects

 

Extrinsic or acquired causs may be due to drugs, bacterial toxins, antibodies, physical trauma

Term

Name the disease causing excessive loss/increased destruction:

 

1. autosomal dominant disorder affecting RBC membrane proteins

 

2. absent or defective synthesis of alpha or the beta hgb chains)

 

3. Hgb gets denatured

 

4. abnormal substitution of a single AA valine for glutamic acid

Definition

1. autosomal dominant disorder affecting RBC membrane proteins HEREDITARY SPHEROCYTOSIS

 

2. absent or defective synthesis of alpha or the beta hgb chains) THALASSEMIA

 

3. Hgb gets denatured G6PD DEFICIENCY- seen in AA population

 

4. abnormal substitution of a single AA valine for glutamic acid: SICKLE CELL DISEASE

Term
In this inherited hematologic disorder RBCs are vulnearbale to oxidants, hemoglobin is oxidized to methemoglobin, and denatured to form Heinz bodies.
Definition
Glucose-6-Phosphate Deficiency
Term

Pt presents saying they feel fature, weakness, dyspnea, palpitations, angina, headache, fainting, visual changes, pallor tachycardia, heart murmur, splenomegaly, jaundice....

 

What are you thinking?

Definition
ANEMIA
Term

Name the disease:

 

A proliferative disease of the bone marrow with an absolute increase in total RBC mass with elevated white cell and platelet counts

Definition
Polycythemia Vera
Term

if you noticed the following:

 

hematocrit >54% in male

Hematocrit > 51% in female

 

abnormally high total RBC mass

 

What are you thinking?

Definition
POLYCYTHEMIA
Term

Name the disease.

 

It is caused by alloantibodies.

 

Comes from an exogenous source

 

An antibody produced by a person to an antigen within the same species but that is not present in that person.

Definition
Hemolytic Disease of the newborn: Erythroblastosis fetalis
Term
Name the two main types of leukocytes and provide examples of each.
Definition

GRANULOCYTES

Neutrophils

Eosinophils

Basophils

 

AGRANULOCYTES

lymphocytes (lymphoid cell line)

monocytes (myeloid cell line)

Term
What is the function life span and normal percentage of neutrophils, eosinophils, basophils and lymphocytes?
Definition

Neutrophils

Function:maintain normal host defenses

Life Span: 4-5 days

Normal Percentage: 55-65%

 

Eosinophils

Function:detoxify agents assoc with allergic reactions

Life Span: not known

Normal Percentage:1-3%

 

Basophils

Function:role in allergic reactions

Life Span:unknown

Normal Percentage: 0.3-0.5%

 

Lymphocytes

Function:B-cells differential to form antibody-producing plasma cells, involved in humoral-mediated immunity

 

T-cells responsibel for orchestrating the immune response and effecting cell-mediated immunity

Life Span:hours to years

Normal Percentage: 20-30%

**maturation sequence: T cells, B cells

Term
What does it mean when you get a CBC with dif and there's a "shift to the left?"
Definition
increase in immature WBC
Term
What is the function, life span and normal pecentages of monocytes?
Definition

Function: phagocytes

 

Life span: 1-3 days in the circulation; months to years in tissues

 

Normal percentages: 3-8%

Term
What is the terms used to describe an increase in WBC vs decrease in WBC?
Definition
Leukopenia: decrease in WBC

Leukocytosis: increase in WBC
Term

If a pt had chronic infections such as TB, syphillis and leukemia.

 

What would you expect to see in WBC counts?

Definition
MONOCYTOSIS
Term

If you had a patient who had

 

an invasive parasitic disease

allergic reaction

Hodgkins disease

Leukemia

 

What would you expect to see on their WBC count?

Definition
Eosinophils
Term

A patient with a viral illness or HIV.

 

What would you abnormality would you expect to see in their WBC count?

Definition
lymphopenia
Term

What abnormality would you expect to see on pt's WBC count if they had

 

drug-induced illness cuasing defective production of a certain WBC and an immune destruction?

Definition
Neutropenia
Term

If a patient had chronic myelogenous leukemia,

 

what type of WBC would you expect to see increased?

Definition

basophils

 

therefore...basophilia

Term

Name the disorder:

 

Referring to a group of disorders characterized by autonomous proliferation of one or more hematopoietic elements in the bone marrow. In many cases, th eliver and spleen are enlarged.

 

 

Definition
Myeloproliferative disorder
Term

Name the disorder.

 

Plasma cell cancer of the osseous tissue; in the course of its dissemination, may also involve non-osseous sites; characterized by uncontrolled proliferation of an abnormal clone of plasma cells, which secrete primarily IgG or IgA.

Definition
Plasma cell dyscrasias: MULTIPLE MYELOMA
Term
What are four different types of leukemia?
Definition

Acute lymphocytic

 

Chronic lymphocytic

 

Acute myelogenous (granulocytes, monocytes)

 

Chronic myelogenous

Term
People who are exposed to high levels of radiation or beneize or use anti-tumor drugs are susceptible of getting what disease?
Definition
LEUKEMIA
Term

Name the disease.

 

Malignant neoplasms coming from the transformation of a single cell line orginally derived from hematopoetic stem cells.

Definition
LEUKEMIA
Term
What are two types of lymphomas?
Definition

Hodgkin's disease

 

Non-Hodgkin's lymphoma

Term
This is a specialized lymphoma characterized by REED-STERNBERG CELLS that begins as a malignancy in a single lymph node and then spreads to contigious lymp nodes.
Definition
HODGKIN'S DISEASE
Term
This is a group of heterogenous lymphocytic cancers that are multi-centric in orgin and spread to various tissues throughout the body, including the bone marrow; occurs 3x more frequently than Hodgkin's disease.
Definition

Non-Hodgkin's lymphoma

 

viral cause is suspected

 

can orginate in T cells or B cells

Term

Inflammation involves ______ and _______components.

 

Unlike immune response, there is no _____

 

Involves ___, ___, ____

Definition

Inflammation involves vascular and cellular components.

 

Unlike immune response, there is no memory.

Involves blood vessels, chemical mediators WBC's

Term
What are the four goals of the inflammatory response?
Definition

1. Limit and control injury (inflammation)

 

2. Prevent further tissue damage.

 

3. Prepare area of healing.

 

4. Remove bacteria and dead cells

Term

What are the five cardinal signs of inflammation?

 

R, S, H, P, L

Definition

REDNESS

SWELLING

HEAT OR TEMPERATURE

PAIN

LOSS OF FUNCTION

Term
What are the steps in acute inflammation?
Definition

Initial vasoconstriction at injury site.

 

Vasodilation of capillaries-slows and increases blood flow to the area. Increases hydrostatic pressure.

 

capillary permeability increases- leakage of plasma proteins (exudate) causes edema

 

Tissue oncotic pressure increases

 

Increased blood flow causes increased warmth and redness

Term
Explain what is causing the cardinal signs of inflammation when there is injury.
Definition

Constriction of blood vessels followed by vasodilation of arterioles/venules causes congestion, REDNESS, WARMTH

 

Blood vessels become smore permeable, proteins exit, fluid moves into tissues so you get SWELLING, PAIN and LOSS OF FUNCTION

 

this helps keep infection localized

Term
what is the difference between a minor injury, moderate injury and a delayed response?
Definition

Minor injury: immed transient response

 

Moderate injury: immed sustained response lasts for several days, vessel damage in the area

 

Delayed response- occurs 4-24 hours later, injury is not noticed right away (sunburn)

Term

Explain the cellular phase of acute inflammation.

 

 

Definition

1. Neutrophils and monocytes move into the area

 

2. Margination and adhesion: phagocytes adhere to the blood vessel walls

 

3. Emigration (diapedesis)

Phagocytes slip though blood vessel walls via endothelial junctions

 

4. Chemotaxis: chemical "perfume" helps attract the leukocytes to the area

 

5. Phagocytosis

Adherence plus opsonization then ENGULFMENT (intracellular destroying)

Term
What are the first cells to appear when there's inflammation?
Definition
Neutrophils
Term

What is the name of the receptor that is on the surface of cells and their function is to respond to early tissue injury?

 

It is thought that genetic differences in these receptors is what causes some people to be more susceptible to infections.

 

What is the receptor? Name examples of cells that bind to the recetors.

Definition

What is the name of the receptor that is on the surface of cells and their function is to respond to early tissue injury? TOLL LIKE RECEPTOR

 

 

Name examples of cells that bind to the recetors.

mucosal epthelial cells, mast cells, dendritic cells in skin, neutrophils, macrophages

Term

What type of cells can divide and survive at inflammation sites?

 

Which cells CANNOT?

Definition

What type of cells can divide and survive at inflammation sites? macrophages

 

Which cells CANNOT? neutrophils

Term

What factors are secreted by the macrophages that help activate other inflammatory cells?

 

 

Definition

granulocyte colonystimulating factor

Gamma interferon

Interleukin 1

Fibroblast activating factor

Term
This cell produces cytokines suppressing further inflammation and initates healing
Definition
macrophages
Term
What three systems of activated by the inflammatory response?
Definition

1. The Complement System

2. The Clotting System

3. The Kinin System

Term

This system is potent against bacterial infections.

 

It can destroy pathogens DIRECTLY or assist in killing pathogens.

 

Opsonization, Degranulation and causes contraction of smooth muscle.

 

What's the system?

Definition
COMPLEMENT
Term
What are the three ways the complement system is activated?
Definition

Classical pathway: proteisn of acquired immune system (antigen-antibody)

 

Lectin pathway- certain bacterial carbohydrates

 

Alternative pathway- gram neg bacteria and fungal cell wall components

Term

The following are part of what system:

 

1. Opsonization

2. Mast Cell Degranulation

3. Leukocyte Chemotaxis

4. Cell Lysis- Enzymes

Definition
Complement System
Term
Plasma proteins that form a fibrinous mesh at the inflammation site are part of what plasma protein system?
Definition

Clotting system

 

 

Term
This plasma protein system prevents the spread of the infection, forms a clot, and forms a framework for future healing and repair.
Definition
Clotting System
Term

this plasma protein system works closely with coagulation system.

 

It works closely with ______.

 

At low doses it causes ____.

 

Acts with ___ to induce pain.

 

Causes smooth muscle cell contraction.

 

Increases vascular permeability and leukocyte chemotaxis.

Definition

KININ SYSTEM

 

It works closely with coagulation system.

 

At low doses it causes VASODILATION.

 

Acts with PROSTAGLANDINS to induce pain.

 

 

Term
Name 5 chemical inflammatory mediators.
Definition

1. histamine/serotonin- causes vessel dilation

 

2. arachidonic acid metbolites- prostaglandins, leukotrienes, thromboxane A2 (vasoconstriction platelet clumping)

 

3. Platelet Activating factor- causes platelet aggregation

 

4. Cytokines

 

5. Nitric Oxide- smooth muscle relaxation; reduces platelet aggregation and adhesion, helps with phagocytosis

Term
Name two inflammatory cells.
Definition

Natural killer cells: recognition and elimination of cells infected with viruses.

 

Platelets: activated several ways, stop bleeding, contain coagulation proteins (fibrinogen), adhesion molecules and growth factors

Term

Name the cell described.

 

cellular bags of granules located in loose connective tissue, close to blood vessels and areas exposed to environment- skin, Gi, Resp.

Definition
Mast Cells
Term
Who activates mast cells? (4)
Definition

Physical injury- heat, trauma, UV light, X-ray

 

Chemical agents- toxins, bsee stings, snake venom

 

Immunologic means- antibody-antigen complement

 

Activation of TLR's-bacteria and viruses

Term

This chemical inflammatory mediator is produced by macrophages and monocytes.

 

It includes

 

Interleukin 6, 1 beta

Tumor necrosis factor- alpha

interferon gamma

Transforming growth factor TG-beta

Definition
CYTOKINES
Term

CYTOKINES

 

Diffuse over ____ distances and bind to target cells.

Various activites dependining on target cell.

 

The majority of cytokines are ___ or ____.

Definition

 

Diffuse over SHORT distances and bind to target cells.

Various activites dependining on target cell.

 

The majority of cytokines are INTERLEUKINS or INTERFERONS.

Term

Who produces interleukins?

 

 

Interferons protect against what type of infections?

Definition

Interleukins produced by macrophages

 

Interferons protect against viral infections

Term

Who secretes TNF alpha?

 

Increases ___in the liver.

 

can cause __or ___ in prolonged infection.

 

Causes ___ of some tumors/ promotes ____ of some tumors.

Definition

Who secretes TNF alpha? macrophages

 

Increases pro-inflammatory proteins in the liver.

 

can cause cachexia or muscle wasting in prolonged infection.

 

Causes necrosis of some tumors/ promotes growth of some tumors.

Term
What chemical inflammatory mediator is ued to treat inflammatory diseases such as RA?
Definition
TNF- alpha
Term

What composes exudates? (2)

 

Name four different types.

Definition

Exudates: plasma protein and cell debris.

 

Serous: watery, low plasma proteins, early or mild inflammation

 

Fibrinous: more severe inflammation, lungs in pneumonia, thick, sticky fibers

 

Purulent: large number of leukocytes, bacterial infections, pus, tissues, proteins

 

Hemorrhagic- bleeding, filled with erythrocytes (blood blister) more severe tissue damage

Term
Name two things (complications) that can result from inflammation.
Definition

Abscess: localixed area of inflmmation containing purulent exudate.

 

Ulcers: occur on epithelial tissues liek Gi tract or skin as a result of inflammation or vascular compromise

Term

Fever, leukocytosis, increase in circulation of plasma proteins (acute phase reactants) and lympadentis.

 

THESE ARE ALL ____ SIGNS OF ______.

Definition
THESE ARE ALL SYSTEMIC SIGNS OF INFLAMMATION
Term

LOOK AT PAGE 498 in the book

 

read about fever patho

Definition
Term

What system is involved in the following:

 

nonspecific response to mediators released rom injured tissue.

 

Immunologic response to a specific antigen.

 

 

Definition
Lymphatic system
Term
How long do you need to have inflammation to callit chronic?
Definition

at least 2 weeks

 

can lasts weeks, months or years

Term

What can form in chronic inflammation?

 

What is it doing?

 

____ fuse to form multinucleated gian cells.

 

Surrounded by _____.

Definition

What can form in chronic inflammation? granulomas

 

What is it doing? wall off area

 

Macrophages fuse to form multinucleated giant cells.

 

Surrounded by lymphocytes.

Term
What type of diet promotes inflammation?
Definition
a diet higher in OMEGA 6 fatty acids and lower in Omega 3 15:1
Term

What is Omega 3 found in?

 

What is Omega 6 found in?

Definition

Omega 3:green leafy veg, walnuts, flaxseed, fish oils

 

Omega 6: various veg oils

 

**Compete for an enzyme that helps produce anti-inflam PGs

Term

What does wound healing begin with?

What is involved?

Definition

Phagocytosis of fibrin, dissolved clots, erythrocytes and dead tissue at the site.

 

Involves: fillin, seal, shrink the wound

Term
What three body cell types are involved in regeneration (wound healing)?
Definition

1. Labile cells: continually divide- surface epithleium, uterine, vaginal tissue, Gi tract

 

2. Stable cells: stop dividing when growth stops but can regenerate (bone marrow, liver)

 

3. Permanent or fixed cells- don't undergo mitosis any more- nerve cells, cardiac muscle tissue, skeletal muscle cells once destroyed they're replaced with scar tissue

Term

What does this refer to:

 

collagen that restores structural integrity of the area but does NOT restore physiologic function

Definition

SCAR TISSUE/FORMATIOn

 

In some cases, scarring can compromise function ie. heart

Term
What are two phases of wound healing?
Definition

Reconstruction phase

 

Maturation Phase

Term

What cell is involved in reconstruction phase? What is its function?

 

In ___ days, ____ and in large wounds ____ occurs.

Definition

What cell is involved in reconstruction phase? FIBROBLAST What is its function? synthesize and secrete collagen

 

In 2-3 days, EPITHELIALIZATION and in large wounds GRANULATION TISSUE occurs.

Term

WOUND HEALING:

 

When does maturation occur? how long can it last?

 

What do you NEVER regain?

Definition

When does maturation occur? begins 3 weeks after injury

 

how long can it last? can last 6 mts or longer

 

What do you NEVER regain? orginial tissue

Term

HOW THE WOUND HEALS:

 

What's the difference between primary and secondary intention?

Definition

Primary: minimal tissue loss, heals by opposition of wound edges (ie. surgical incision)

 

Secondary:edges of the wound are unable to be opposed; healing will occur with excess trauma or tearing of the skin-ie dog bite.

Term

What is the outcome during healing if any of the following occurS:

 

  • inflammatory response
  • wound become reinfected
  • pts with Dm, immunocompromised
  • hypoxemia
  • Certain drugs or lack of nutrients (increase need for protein)
  • prolonged bleeding- delays healing
  • fibrous adhesions form- binds organ together
  • Prolonged infection: prolongs inflmmation, increases purulent exudate, excess scar formation
  • hypovolema with excess bleeding- bessel constriciton
  • NSAIDS, steroids
Definition
DYSFUNCTIONAL WOUND HEALING
Term
When using an NSAID during wound healing...what does it inhibit?
Definition

inhibits fibroblast migration to the wound

 

impairs angiogenesis, wound contraction and epithelialization

Term

ERRORS IN RECONSTRUCTIOn:

 

Explain the following:

 

1. Keloids

2. Hypertrophic scar

3. Wound dehiscence

4. Contracture

Definition

1. Keloids: large raised scar extending beyond the margins of the orginal wound; improper collagen formation

 

2. Hypertrophic scar: raised by stays within boundaries of wound

 

3. Wound dehiscence: pulling apart at the edges, greates 5-12 days after suturing, often with wound sepsis/excessive strain/obesity may see serous drainage from wound; nees surgical repair

 

4. Contracture: deformity at the site of the wound; functio laesa (decrease ROM) burns, cirrhosis, duodenal strictures from ulcers healing

Term

True or False

 

 

EVERY cell in the body contain the same genetic information.

Definition
TRUE
Term

What are the four bases making up the alphabet of the genetic code?

 

What creates a complimentary MRNA copy?

Definition

Adenosine

Cytosine

Guanine

Thymine

 

What creates a complimentary MRNA copy? Transcription

Term

CELL DIVISION:

 

what are the terms that describes the following:

 

this cell division occurs in SOMATIC cells; results in the formation of 23 pairs of chromosomes

 

This cell division is limited to replicating germ cells

Resulst in teh formation of gametes or reproductive cells; each has a single set of 23 chromosomes

Definition

this cell division occurs in SOMATIC cells; results in the formation of 23 pairs of chromosomes MITOSIS

 

This cell division is limited to replicating germ cells

Resulst in teh formation of gametes or reproductive cells; each has a single set of 23 chromosomes MEIOSIS

Term
Explain differences between meiosis and mitosis.
Definition

Mitosis: one division 2 daughter cells; same number of chromosome cells in daughter and parent; somatic cells; throughout life used for growth and repair

 

MEIOSIS: 2 divisions; 4 daughter cells per cycle; daughter cells genetically different; half number of chromosomes in a daughter vs parent cells; germline cells; in humans, complete after sexual maturity; used for sexual reproduction, new gene combinations

Term

Mitosis vs Meiosis:

 

What has cells that go to the offspring?

 

Definition
MEIOSIS: goes to the offspring
Term

All males have an __ and ___ sex chromosome.

 

All females have two __ chromosomes

Definition

All males have an X and Y sex chromosome.

 

All females have two X chromosomes

Term

There are __ pairs of chromosomes alike in males and females.

 

__ chromosomes make up the 23rd pair, determining sex of person.

Definition

There are 22 pairs of chromoses alike in males and females.

 

SEX chromosomes make up the 23rd pair, determining sex of person.

Term

TRANSMISSION OF GENETIC INFORMATION

 

What is an allele?

 

What is a locus?

 

What is a chromosome?

Definition

What is an allele? alternate forms of a gene; one from each parent

 

What is a locus? position genes occupy on a chromosome/ location of allele

 

What is a chromosome? genes are organized in structures

Term

The physical manifestation of genetic information. What is the term?

 

The sum total of genetic information in the cells. What is the term?

Definition

The physical manifestation of genetic information. What is the term? PHENOTYPE

 

The sum total of genetic information in the cells. What is the term? GENTOTYPE

Term
What causes a mutation in the DNA? (3)
Definition

substitution of one base pair for another

 

The loss or addition of one or more base pairs

 

The rearrangement of base pairs.

Term

TRUE OR FALSE

 

Mutations in DNA ONLY occur in germ cells.

Definition

FALSE

 

Mutations may arise in somatic cells OR in germ cells.

Term

What gene disorder is caused by a single defective or mutant gene?

 

It can be present on an autosome or the X chromosome.

 

It may affect one member or both members of an autosomal gene pair.

Definition
SINGLE GENE DISORDER
Term
Defects in a single gene disorder are characterized by _______
Definition

their patterns of transmission and can be obtained througha  family genetic history.

 

Defects follow the Mendelian pattern of inheritance

Term

Arrangement of Alleles:

 

Define homozygotes.

 

Define heterozygotes.

Definition

Define homozygotes: persons in whome the two alleles of a given pair are the same

 

Define heterozygotes: persons having different alleles (Aa) at a gene locus

Term

GENETIC TRAITS.

 

Define recessive trait.

 

Define dominant trait.

 

Define carrier.

Definition

 

Define recessive trait: one expressed only in a homozygous pairing.

 

Define dominant trait: one expressed in eith a homozygous or a heterozygous pairing

 

Define carrier: a person who is heterozygous for a recessive trait and does NOT manifest the trait.

Term

DISORDERS OF SINGLE GENE INHERITANCE.

 

What does it mean to have an autosomal dominant mutation?

 

Autosomal recessive mutation?

 

X-linked recessive mutation?

Definition

What does it mean to have an autosomal dominant mutation? a single mutant allele from an affected parent is transmitted to an offspring regardless of sex

 

Autosomal recessive mutation? manifested only when both members of the gene pair are affected (both parents unaffected, but carriers)

 

X-linked recessive mutation? always associated with the X chromosome; inheritance pattern is predominantly recessive.

Term

AUTOSOMAL DOMINANT SINGLE GENE DISEASES:

 

1. does it skip generations?

2. What is the recurrence risk?

3. When does it happen? at birth or later in life?

Definition

1. does it skip generations? not seen typically

2. What is the recurrence risk? 50%

3. When does it happen? at birth or later in life?

occurs later in life

Term
What are four examples of Autosomal Dominanet Single Gene Diseases?
Definition

Huntinton's Chorea: atrophy and loss of striatal neurons in the caudate nucleus, putamen and frontal cortex

assoc with triplet of CAg on short arm of chromosome 4

 

familial hypercholesterolema: mutation in the LDl receptor produce a deficit in receptor abundance, resultin gin increased circulating LDL levels

 

Marfan's syndrome: a connective tissue disorder manifested by changes in the skeleton, eyes, and cardiovascular system

due to mutation in gene that encodes in fibrillin, a key component of connective tissue

 

Von Willebrand's disease: platelet adhesion defect

Term
What are two examples of AUTOSOMAL RECESSIVE SINGLE GENE DISEASES?
Definition

Cystic Fibrosis: most common AR disease, mutation in gene result in absent or abnormal expression of the chloride channel as well as misregulation of a sodium channel

 

Sick Cell Disease: seen in 1/600 AA births. Caused by mutation in the beta globin gene on chromosome 11, alters the hemoglobin molecule, erythocytes assyme "sickle" shape under condition of low oxygen tension

Term

X-Linked (X Chromosome) SINGLE GENE DISEASE:

 

ONLY on _ chromosomes

 

ONLY ___ are affected.

 

is it common to skip a generation?

 

___ can be carriers, and 50% of __ will have trait/disease.

Definition

ONLY on X chromosomes

 

ONLY MALES are affected.

 

is it common to skip a generation? YES!!!

 

FEMALES can be carriers, and 50% of SONS will have trait/disease.

Term
What are three examples of X-LINKED Recessive SINGLE GENE DISEASES?
Definition

Hemophilia A: Deficiency of clotting factor VIII, a protein that is encoded by a gene on the long arm of the X chromosome

 

Duchenne muscular dystrophy: mutation in gene that encodes dystrophin, vital muscle protein

 

Fragile X syndrome: Assoc with a fragile site on teh X chromosome where the chromatin fails to condense during mitosis

Second most common cause of mental retardation after Downs syndrome.

Term

Name three causes of chromosomal disorders.

 

Name 3 examples.

Definition

Alterations in chromosome duplication.

 

Alteration in chromsome number

Trisomy 21

Monosomy X

Polosomy X

 

Alterations in chromosome structure

Term

What happens during cell division in trisomy-21?

 

What are some signs and symptoms?

Definition

Non-dysjunction during meiosis

 

growth failure

metnal retardation

flat back of head

abnormal ears

pam crease

special skin w ridge pattern

umbilical hernia

diminished muscle tone

big toes widely space

enlarged colon

congenital heart disease

big wrinkled tongue

dental anomalies

broat flat face, slanting eyes, epicanthic eyefold, short nose

 

Small and arched palate

Term

Name the chromosomal disorder.

 

99% are spontaneously aborted.

 

Absense of ovaries.

 

Most common genetic cause of amenorrhea

Webbing of neck.

Lymphedema of the hands and feet.

Definition

MONOSOMY X (23)

 

TURNER SYNDROME (45, X)

Term

Name the chromosomal disorder:

 

Affects males.

 

due to NON-dysjunction during meiosis.

 

tall males, normal at brith

 

Seminiferous tubule dysgensis, gynecomastia.

 

NOT mentally retarded.

Definition

POLYSOMY X: XXY, XXXY

 

Klinefelter's syndrome (47, XXY)

Term

What are environmental influences causing chromosomal disorders?

 

Definition
  • Teratogenic agents: produce abnormalities during embryonic or fetal development:
  • radiation
  • Chemical and drugs: fetal alcohol syndrome, cocaine babies, folic acid deficiency
  • Infectious agents ie. H. Pylori
Term

Assessmetn of genetic risk and prognosis

Detailed FHx

Pregn Hx

Detailed accounts of birth process

Accoutn sof postnatal health and development

Physical exam of affected child and family

Lab tests

 

 

all the above are part of what assessment?

Definition
GENETIC ASSESSMENT
Term
What are the five mechanisms of hemostasis?
Definition

1. vessel spasm

2. formation of platelet plus

3. blood clot formation

4. clot retraction and fibrous tissue growth

5. clot dissolution

Term
What are two abnormalities of hemostasis?
Definition

1. Inappropriate clotting within the vascular compartment.

 

2. Clotting insufficient to stop blood flow from the vascular compartment.

Term

VESSEL SPASM

 

Initiated by ____ spasm.

 

Result of ___ and ____ mechanisms.

 

Constricts blood vessel→decreased blood flow

 

Typically lasts less than a minute, cute can last hours if needed.

Definition

VESSEL SPASM

 

Initiated by endothelial spasm.

 

Result of humoral and neural mechanisms.

 

 

Term

PLATELET REVIEW

 

Formed in ____ as cytoplasmic ___ from _______.

 

Production is under the influence of ______ (hormone.)

 

It is processed through ___ for about 8 hrs before being released into  peripheral circulation

 

What is the life span?

 

What are normal counts?

Definition

PLATELET REVIEW

 

Formed in bone marrow as cytoplasmic fragments from megakaryocytes.

 

Production is under the influence of thrombopoietin (hormone.)

 

It is processed through spleen for about 8 hrs before being released into  peripheral circulation

 

What is the life span? 7-9 days

 

What are normal counts?

150,000-400,000/cumm

Term

PLATELET CHARACTERISTICS:

 

What factor is required to activate platelets?

 

What charge does a circulating platelet have before it's activated?

Definition

What factor is required to activate platelets? Von Willebrand Factor

 

What charge does a circulating platelet have before it's activated?

Negatively charged

Term
What happens during platelet plus formation?
Definition

Platelets contact injured vessel wall

-negative charge of cessel wall is lost, so the negatively charged plateltes adhere to the surface

 

Platelets become activated

upon activation, platelet surface becomes spiny, exposing surface receptors

 

Platelet functions

adherence and aggregation

Term
Von Willebrand factor circulates attached to what factor?
Definition
VIII
Term
what are two functions of platelets?
Definition

adherence/adhesion

 

aggregation: form meshwork under influence of ADP, platelet activating factors such as thromboxane A and thrombin

Term

CLINICAL NOTE:

 

Platelet deficiencies in number and/or function cause what?

Definition

increased capillary permeability resulting in

 

1. small skin/mucous membrane hemorrhages known as petechiae/purpura/ecchymosis

Term

BLOOD CLOT FORMATION

 

Production of _____ fibrin.

 

occurs via _____ and ___ pathways. 

 

Requires activation and consumption of _____.

Definition

Production of insoluble fibrin.

 

occurs via extrinsic and intrinsic pathways. 

 

Requires activation and consumption of coagulation factors.

Term

COAGULATION FACTORS

 

Procoagulants:

 

Factors I-VIII circulate in the blood in ____ form.

 

All factors are made in the ____ except factor ____.

 

Factors __, ___, ___, ____ are Vitamin K dependent for formation (as well as Protein __)

Definition

Procoagulants:

 

Factors I-VIII circulate in the blood in inactive form.

 

All factors are made in the liver except factor VIII.

 

Factors II, VII, IX, X are Vitamin K dependent for formation (as well as Protein C)

Term

COAG FACTORS

 

Factor I → 

Factor II →  

Factor III → 

Factor IV → 

Definition

 

Factor I → FIBRINOGEN

Factor II →  PROTHROMBIN

Factor III → TISSUE THROMBOPLASTIN

Factor IV →CALCIUM

Term
Name four examples of anticoagulants found in the blood
Definition

Antithrombin III

heparin

alpha2 macroglobulin

protein C

Term
What are the three stages of blood clot formation?
Definition

Stage I: formation of prothrombin activator

 

Stage 2: conversion of prothrombin to thrombin

 

Stage 3: conversion of fibrinogen to fibrin

Term
What's the difference between extrinsic and intrinsic blood clot formation?
Definition

Extrinsic: vascular wall and/or extravascular tissues damaged/traumatixed which causes release of tissue thromboplastin factor, activation of Factor X (you get cleaving of prothrombin to thrombin, mechanism accelerated with Factor V) and formation of prothrombin activator

 

Intrinsic: blood trauma or exposure of blood to vascular wall collagen causes 

activation of Factor XII and release of vWF, TXA2 and ADP

Facors XI, IX, VII (w Ca) activation leds to activation of Factors X and V

Prothrombin activator formed

 

Term

What test is used to measure the extrinsic pathway?

 

What test is used to measure the intrinsic pathway?

Definition

What test is used to measure the extrinsic pathway?

Prothrombin Time

**WARFARIN

What test is used to measure the intrinsic pathway?

aPTT/PTT

unfractionated heparin

 

 

Term

What is the end product of both the extrinsic and intrinsic pathway?

 

This new activator allows for what?

Definition

What is the end product of both the extrinsic and intrinsic pathway?

Prothrombin activator

 

This new activator allows for what?

Prothrombin (Factor II) is converted to Thrombin under the influence of 

Factors V, VII, X and Ca

Prothrombin attaches to receptors on the platelets that have bound to the damaged tissues.

Term

CLINICAL NOTE:

 

Where is prothrombin formed?

 

What does it require for normal formation of Factor II?

 

 

Definition

Where is prothrombin formed? LIVER

 

What does it require for normal formation of Factor II?

requires Vit K

 

if no Vitamin K and/or severe liver disease causes decreased levels of prothrombin and results in bleeding via a coagulation defect.

Term

antigen antibody reactions

some drugs and venoms

circulating cellular debris

retained placental fragments

 

...all of the above could cause what? (related to coagulation)

Definition
Intravascular clotting
Term
What is the mechanism of DIC?
Definition

Consumptive coagulopathy

 

-platelets, coagulation factors get depleted because coagulation sequence is activated

-High mortality

Term

Meshwork of fibrin fibers, RBC's, platelets and plasma

 

...these are all part components of what?

 

What is the function?

Definition

BLOOD CLOT

 

Function: vascular wall attachment of blood clot at site of injury/damage prevents blood loss

Term
What is required for clot dissolution?
Definition
Plasminogen
Term
Name two natural anticoagulants.
Definition

Protein C- inactivates V and VIII

 

Heparin- combines with anti-thrombin III cofactor to suppress the fibrin formation

Term

antiphospholipd syndrome

increased platelet function (ie. atherosclerosis, smoking)

accelerated activation of coagulation system (ie. elevated estrogens, OCP's, malignant disease, post surgery)

 

all of these could cause what type of state?

Definition
HYPERCOAGUABLE
Term

_____ Disorder

 

Caused by vascular integrity (damaged/weak vessels)

 

Evidenced by purpura, petechiae

 

Examples:

Vit C deficiency

Hemorrhagic telangiectasia (Weber Osler Rendu)

Cushin's disease

Definition
BLEEDING DISORDER
Term
Name some drugs that can cause platelet abnormalities leading to bleeding disorders.
Definition

heparin

quinine, quinidine

sulfa, penicillin

cephalosporin

Term

What is the word for "abnormal platelet function?"

 

Name four causes.

Definition

thrombocytopathia

 

Causes:

Von Willebrand's disease

ASA

NSAID

Uremia

Term
Name 3 anticoag drugs.
Definition

Aspirin

 

Warfarin: reverse effects with Vit K and fresh frozen plasma admin

 

Heparin: reverse effects with Protamine sulfate

Term
What are examples (2) of congenital blood clotting defects and (2) acquired blood clotting defects?
Definition

Congential

Hemophilia A

Christmas Disease

 

Acquired

Liver disease

Vit K deficiency

Term
Name 4 complications of a DIC.
Definition

Exsanguination

Cardiovascular shock

multiple organ failure

death

Term
Four phases of cell cycle.
Definition

M phasE: replicated chromosomes separate and form two nucli by mitosis and cytoplasm divides between two nuclei by mitosis and cytoplasm divides btw to two cells by cytokinesis

 

G1 (gap 1) growth period when cell determines if its ready to commit to DNA synthesis

 

S (DAN synthesis) period during which genetic material replicated

 

G2 (gap 2): period during which DNA replication is checked and errors are corrected

Term
What are the two main features that define cancer?
Definition

cell growth is not regulated by external signals

 

cells have the ability to invade tissues

Term

CANCER:

What's the difference between invasion and metastasis?

Definition

invasions: goes to neigboring tissues

 

Metastasis: goes to lymph nodes, blood vessels and distant sites

Term
What are the two exclusive pathways for cell division?
Definition

divide and differentiate

 

divide: ie stem cells

 

differeniate: no longer able to divide

Term
Explain the steps of the cell cycle.
Definition

 

 

G1: cell decides if ready for DNA synthesis

 

M: DNA replication occurs

 

G2: cell checks itself for accuracy and repairs errors

 

M phase: chromosomes replicate and divide via mitosis AS WELL as division of the cytoplasms via cytokinesis

Term

GENETIC BASIS OF CANCER

 

Most cancers originate from a _____ cell.

 

Most mutations occur in ____ cells (_%)

 

Minority of cancers are ____ (_%)

Definition

GENETIC BASIS OF CANCER

 

Most cancers originate from a single cell.

 

Most mutations occur in somatic cells (80%)

 

Minority of cancers are inheritable (20%)

Term
Give three examples of what can cause mutations in somatic cells.
Definition

1. Errors in DNA replication

2. Induced carcinogen exposure

3. Requires multiple genetic lesions

Term

Majority of _____ mutations are _____ and most are due to _____

 

CML is due to _______

Definition

Majority of somatic mutations are dominant and most are due to translocations

 

CML is due to Philadelphia Chromosome

Term
Germline mutations tend to affect ____ genes
Definition

Germline mutations tend to affect tumor suppressor genes

Term
Radiation, tobacco, smoke, chemicals, asbestos, viruses are all examples of...
Definition

carcinogens

 

able to damage genome or disrupt cellular metabolic processes

Term

Name the gene:

 

genes that promote normal cell growth and can be converted to oncogenes through mutations or increased expression.

 

EXAMPLES: RAS, WNT, MYC, ERK, TRK

Definition
Protooncogene
Term
Name the gene: genes that when mutated or expressed at high levels assist in turning normal cells in tumor cells.
Definition
Oncogenes
Term

Name the gene:

 

usually restrain growth with unregulated cell growth occurring when they malfunction.

Definition
Tumor suppressor genes
Term
Name four classifications of oncogenes.
Definition

  • growth factors
  • receptor tyrosine kinases
  • cytoplasmic tyrosine kinases
  • cytoplasmic serine/threonin kinase
  • regulatory GTPases
  • Transcription factors

Term
50% of adult cancers have to with ____
Definition
RAS
Term

This is a protein subfamily of small GTPases which function as on/off switches.

 

Involved in cellular signal transduction

 

 

Definition
RAS
Term

This gene encodes for transcription factor.

 

Regulates expression of 15% of all genes.

 

Involved in Burkitt Lymphoma.

Definition
MYC
Term

What is causing the following to occur to cells?

 

altered morphology

loss of contact inhibition

ability to grow without attachment

ability to proliferate indefinitely

reduced need for growth factors

high saturation density

inability to halt proliferation in response to deprivation of growth factors

increased glucose transport

tumorigenicity

Definition
Viral transformation of cells
Term

Name the gene:

 

Ex of tumor suppressor gene

 

Dominant inheritance

 

germline mutation causes loss of function of one allele on chromosome 13

 

occasional sporadic cases are unilateral and caused by somatic mutations of both __ alleles.

Definition
Retinoblastoma gene
Term

This tumor suppressor gene can cause sarcomas, brain tumors, leukemia.

 

What syndrome is associated with the gene?

 

this video may help you remember it:

http://www.youtube.com/watch?v=PMe_w_EOasU

Definition

Tumor Suppressor Gene p53

 

Li Fraumeni syndrome

Term

What is Lynch syndrome?

 

 

Definition

HNPCC: hereditary nonpolyposis colon cancer

 

conol cnacer in three or more individuals over at least 2 generations

 

-at least one dividual under age 50

-about 1/200 individuals have HNPCC

Term

What is the relationship of apoptosis and cancer?

 

Loss of what gene can cause apoptosis to go haywire?

Definition

Tumors evolve ways to inhibit or disable apoptosis

 

Loss of p53 tumor suppressor gene

Term

What do tumors require to receive adequate supply of oxygen, nutrients and removal of waste products?

 

What can you do to treat several solid tumors? (medication)

Definition

Cancer needs adequare blood supply so you need to stop angiogenesis

 

Bevacizumab is a monoclonal antibody against VEGF and used in tx of several solid tumors

Term

What am i describing?

 

molecular or tissue based assay beyond routine clinical, radiographic or pathologic examination which predicts future behavior of cancer.

 

How are they measured?

 

Identified where? (4)

Definition

Biomarkers

 

Measured: DNA, RNA, protein, cell tissue

 

Identified in tumor tissue, lymph nodes, distant sites or blood

Term
What are 6 potential uses for tumor markers?
Definition

Risk determination (screening/prevention)

Screening (early detection)

Differential diagnosis (B-HCG, Alpha fetal protein for germ cell tumors)

Prognosis: risk of invasion and metasttasis

Prediction: how patient will respond to given therapy

Monitoring: CEA, CA 125, PSA

Term

name the biomarker:

 

Proto-oncogene important in breast cancer.

 

Prognostically signals a  more aggressive cancer.

 

How is it measured?

 

 

Definition

name the biomarker: HER 2

 

 

How is it measured? Immunohistochemistry or FISH (fluorescent in situ hybridization)

Term

Name 3 tumor markers for Breast Cancer.

 

Name one tumor maker for colorectal cancer.

 

Name one tumor maker for Pancreatic cancer.

 

**YOU DON'T DIAGNOSE WITH THESE; JUST GOOD FOR MONITORING!

Definition

Name 3 tumor markers for Breast Cancer.

Estrogen and Progesterone receptors

Tissue HER2

CA 15-3 and CA 27.29

 

Name one tumor maker for colorectal cancer.

CEA used for monitoring Stage II, III, IV

 

Name one tumor maker for Pancreatic cancer.

CA 19-9 monitoring

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