Glossary exam 1

Albumin

a protein made by the liver that plays a crucial role in maintaining fluid balance within the bloodstream and transporting various substances throughout the body

Amyloid

An aggregate form of fibrils with 30 different proteins. They are composed of non-branching fibrils intertwined polypeptides in a beta pleated sheet conformation

Anaphylatoxins

Low molecular weight peptides responsible for the acute inflammatory response including mediating migration and activation of a range of immunocompetent cells

Anorexia nervosa

self-induced starvation; it is characterized by amenorrhea and multiple manifestations of low thyroid hormone levels

Antibodies

Soluble proteins that are produced by B lymphocytes and are responsible for the function of the humoral adaptive immune system

Antithrombin III

A serine protease that requires heparin as an activator to produce effective anticoagulation, it is made in the liver. A deficiency results in a venous thrombosis.

Apoptosis

a pathway of cell death in which cells activate enzymes that degrade the cells’ own nuclear DNA and nuclear and cyto- plasmic proteins

A distinctive form of cell death designed to eliminate unwanted host cells. It is a regulated process where we do not see inflammation and the cellular membrane remains intact. The fundamental event is the activation of capases

aPTT

Time needed for plasma to form a fibrin clot following the addition of Ca2+. This lab tests the intrinstic pathway of the cascade reflecting activity of all the factors except VII and XIII

Atrophy

Atrophy is reduced size of an organ or tissue caused by reduction in the size and number of cells

Loss of cellular constituents. We are going to see residual bodies through lipofuscin granules

Autosomal dominant

Mutations affecting structural and regulatory proteins. 50% of offsprings will inherit gene. Clinical features may occur later and recessive mutations

Autosomal recessive

Both alleles at a given gene are mutated. The single largest category of mednelian disorders. Enzyme proteins are most often affected

BCL 2

An anti-apoptic gene that prevents the release of cytochrome c. Protects the cell from apoptosis, decreasing cell death

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Bulimia

• a condition in which food binges alternate with induced vomiting or excess exercise.

C5a

A potent chemotactic factor for neutrophils, monocytes, eosinophils and basophils. Responsible for the activation of the lipoxygenase pathway or arachidonic acid metabolism

C5b-9

The complement system membrane attack complex. Formed by the C5b along with C6.C7,C8 and C9 molecules. Responsible for the cytolytic function of complement

calcification, dystrophic

Deposition of calcium in dead, dying, or damanged tisses. Calcium levels are normal

calcification metastatic

• Deposition of calcium salts in otherwise normal tissue, Hypercalcemia

caspase

A proteolytic enzyme largely known for its function in apoptosis. Activated by the Mitocondrial Intrinsic Pathway or the Death Receptor Extrensic Pathway

stem cells

Cells from which all other cells with specialized functions are generated. They have the ability to self re-new. Pluripotent stem cells produce all the tissues of the human body and is found in the bone marrow

cherry spot

coagulative

- "red and dead"
A form of necrosis where the underlying tissue is left intact for several days. Seen in the infarction of solid organs

congestion

A passive process that is caused by the impaired outflow of the venous system. The tissues in question become cyanotic

continuously

Absence of interruption, a succession of parts intimately united

Cyclins

A group of proteins that control the progression of a the cell cycle by activating particular enzymes. Responsible for DNA replication, Depolymerization of nuclear lamina, and the formation of mitotic spindles.

D- dimers

A protein fragment from the breakdown of a blood clot

decreased

To reduce or make smaller

Disease Neimann Pick

• A deficiency of acid sphingomyelinase causes an accumulation of shingomyelin. There are three types (A-C) with C being the most common. Type A is the infantile form and has alot of CNS involvement compared to the that of Type B. Type A is the most lethal. Type C we will see an accumulation of cholesterol as well as gangliosides such as GM1 and GM2 in the affected cells

Disease, Gaucher

• The most common lysosomal storage disorder. Characterized by a lack of glucocerebrosidase causing an accumulation of glucocerebrosides. There are 3 types. Type 1 is the most common. Type 2 involves CNS and seen in Juvenile population. Cytoplasm has a fibrillary apperance. Key words to think about crumpled tissue paper appearance and PAS positive.

Disease, Tay Sachs

Located at chromosome 15. There is a deficiency of Hexosaminidase A. GM2 ganglioside accumulates in many tissues within the CNS, ANS and Eyes. Most commonly seen in Ashkenazi Jews. Key sign and symptom is a cherry red spot on the retina and whorled configurations within lysosomes

Disease, von Willebrand

One of the most common inherited bleeding disorders. Clinically we see spontaneous bleeding from mucocus membranes, excessive bleeding from wounds , menorrhagia, and prolonged bleeding time. It as an autosomal dominant disease. Type 1 is most common. Type 2 we see a decrease in the number and function of Von Willebrand. Type 3 is the most severe and VIII is destabilzed. Fun fact people with blood type O display a reduction in both VIII and vWF

Disseminated intravascular coagulation (DIC)

An acute , subacute or chronic thrombohemorrhagic disorder. Occurs secondary to a trauma or shock. Leads to the formation of microthrombi throughout the microcirculation. There is going to be a massive consumption of platelets, fibrin and coagulation factors. This is going to activate the fibrinolytic system. Assoicated with bilateral renal cortical necrosis and Waterhouse-Friderichsen sydnrome. Lab wise we are going to see prolonged PT, aPTT, and TT as well as an elevated D Dimer. The only way out is to treat the underlying disorder

Dry

Edema, dependent

A specific part of the body that are influenced by gravity, such as your legs, feet or arms

Edema, pulmonary

An abnormal buildup of fluid in the lungs

Emboli, arterial

usually assoicated with atherosclerotic plaque and can occult major arteries including the coronary, cerebral and femoral arteries.

Emboli, pulmonary

A blood clot that develops in a blood vessel elsewhere in the body and travels to an artery in the lung forming a blockage of the artery. Most common

Embolus, air

Gas bubbles in the circulation can coalesce causing obstruction of vascular flow

Gas bubbles that enter the circulation can coalesce and obstruct vascular flow and cause distal ischemic injury.

Embolus, amniotic fluid

A catastrophic complication of pregnancy in which aminotic fluid, fetal cells, hair or other debris enter into the maternal pulmonary circulation causing cardiovascular collapse

Embolus, fat

• Microscopic fat globules may be found in the circulation after fractures of long bones.

• occurs after crushing injuries to the bones and may

  cause pulmonary insufficiency and neurologic damage.

 Endothelial cell, contraction (with gap formation)

Location where vessels leak. Seen in the venules and caused by vasoactive mediators. Part of the mechanism of the acute inflammation

Endothelial cell, direct injury (necrosis and detachment)

Takes place because of toxins, burns and chemicals. Takes place in all microcirculation

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 E-selectin

Receptors expressed on leukocytes and endothelium. Binds to Sialyl-Lewis X modified proteins and facilitates rolling and adhesion of the leukocyte

Fibroblast growth factor, basic (FGF-basic)

Functions in neovascularation, angiogenesis via FGF-2, proliferation of endothelial cells and wound repair. Binds tightly to heparin

 Foot drop

Heart failure, left-sided

Leads to pulmonary edema and is the number one cause of right sided heart failure

Heart failure, right sided

Leads to increased jugular vein pressure and causes dependent edema

Hemophilia A

Most common hereditary cause of serious bleeding. X linked recessive. Patients are typically deficient in factor VIII C. Major symptoms include excessive bleeding following a procedure, urinary tract bleeding and intracranial hemorrhage. PT and TT tests are normal. aPTT is prolonged but correct when mixed with normal plasma. Definitively measured by assay of VIII C. It is treated using replacing VIII

Hemophilia B

A factor IX functional defect. We are going to see a prolonged aPTT. Bleeding times and PT are normal. Sometimes this disease is referred to as Christmas disease

Histamine

A granular chemical that is found in mast and basophil cells. They cause dilation of the arterioles and increase vascular permeability

 Hyaline

Any alteration within the cells or in the extracellular space which gives a homogenous pink appearance with H&E stain

Hydrostatic pressure,

As blood moves along the capillary, fluid moves out through its pores and into the intersitial space. Caused by venous obstruction, CHF, Constrictive Pericarditis, or Cirrhosis

Hypercoagulability

An altered state of blood requiring less than normal clot-promotion activities that produce a thrombus. Primarily caused by mutations in factor V (Leiden). Most people with mutation do not have a DVT

Hyperplasia

An increase in the number of cells leading to an increase in the size of the organ or tissue. It can be caused by physiologic and pathologic changes. Seen with an increase in growth factors or a change in hormones

Hypertrophy

• An increase in the size of cell with a resulting increase in the size of the organ. Occurs when cells have a limited capacity to divide and there is an increased functional demand or growth factor stimulation.

ICAM-1

ICAM-1 also known as CD54 is a protein that in humans is encoded by the ICAM1 gene. This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. Plays a role in adhesion, arrest and transmigration

IgE

Released after the binding of mast cells, results in vasoactive seasonal allergies and can cause anaphylaxis

IgG (Fc portion)

Considered an opsonin and helps in the activation of the classical pathway. This antibody is seen in 2nd time infections with memory cells

 Immune complex

sometimes called an antigen-antibody complex or antigen-bound antibody, is a molecule formed from the binding of multiple antigens to antibodies. The bound antigen-antibody complex act as a unitary complex.

Increased

Inflammasome

A multip-protiein cyctoplasmic complex that when triggered activates capases 1

INR

Frequently used as a screening test or to monitor patients on warfarin therapy

Interleukin-1 (IL-1)

Plays a role in leukocyte recruitment. Activates fibroblasts to synthesize collagen linking inflammation to rebuilding. Helps to stimulate Th17

Karyorrhexis

The nucleus fragments into visible fragments

Keloid

A firm, nodular, hypertrophic mass of scar tissue extending beyond the area of injury. It may develop in any scarred area but is most common on the shoulders and upper chest. Keloids are more common in people with darker skin and may recur following treatment.

Kwashiorkor

Leukotriene B4

Highly chemotatic for neutrophils, eosinophils and monocytes, brings about an inflammatory response

Liquefactive

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Seen in focal bacterial infections, the infection results in a rapid accumulation of inflammatory cells and pus. Enzymes from the cells digest the tissue. Seen in hypoxic death of the cells of the CNS

L-selectin

Cell adhesion molecule found on lymphocytes

Macrophage

Good for chronic inflammation becuase they are longer-lived cells and they make GFs that cause repair process to begin through the classically activated pathway

Marasmus

Metaplasia

• Replacement of cells sensitive to stress with those better able to withstand it. Involved in loss of function. Results from a reprogramming of the stem cells

• change in phenotype of differentiated cells, often in response to chronic irritation, that makes cells better able to with- stand the stress; usually induced by altered differentiation pathway of tissue stem cells; may result in reduced functions or increased propensity for malignant transformation

Natural killer cells

Cytotoxic lymphocyte that is part of the innate immune system

Neuropathy

Niacin

Nitric Oxide

Produced by endothelial cells and macrophages. Causes vasodilation and reduces palatelet aggregation and adhesion

Opsonin

Includes the Fc portion of IgG, C3b and collectins. Marks cells for recognition and destruction by phagocytosis. Cells that are opsonized are usually eliminated by the spleen

Osteomalacia

a condition characterized by the softening of bones due to inadequate mineralization, most commonly caused by vitamin D deficiency.

Pellagra

a disease caused by a severe deficiency of niacin (vitamin B3) or its precursor, tryptophan, leading to various symptoms affecting the skin, gastrointestinal tract, and nervous system

Phagocytosis

The process of removing foreign debris and or cells. It takes place in steps recognition and attachment, engulfment, and then killing and degradation

Platelet activating factor (PAF)

Created in lymphocytes by the action of phospholipase A2. Causes platelet aggregation and degranulation leading to bronchoconstriction. More potent than histamine causing vasodilation and increased vascular permeability

Protein C

A serine protease that produces anticoagulant action by inactivation of Va and VIIIa. Activated by thrombomodulin, synthesis is dependent on Vit K and increases the production of t-PA

PT

- Prothrombin Time
- tests extrinsic pathway (VII and common pathway)

Pyknosis

Characterized by nuclear shrinkage and increased basophilia

Regeneration

Some tissues are able to replace the damaged components and essentially reurn to normal

Replacement

the process where damaged or diseased tissue is substituted with new tissue

With connective tissue --- forms a scar

Scurvy

weakened connective tissues due to the role of vitamin C in collagen production

hock, cardiogenic

Results from cardiac failure; May be the result of intrinsic myocardial damage, MI, tamponade, pulmonary embolism

Shock, hypovolemic

Systemic hypoperfusion owing to a reduction in either cardiac output or in the effective circulating blood volume. A loss of blood or plasma volume due to hemorrhage, fluid loss or trauma

Syndrome, antiphospholipid antibody

- aka Lupus anticoagulant
- causes hypercoagulable state by: endothelial injury, activating platelets, activating complement
- in vitro: interfere w/ aPTT and give false-positive serologic test for syphilis
- primary and secondary form (autoimmune = secondary) (primary = only hypercoagulable state)
- lab tests = immunoassays, coagulation tests

Syndrome, Fragile X

The 2nd most common genetic cause of intellectual disability. The gene involved is FMR1. There are multiple repeats of CGG on the long arm of the X chromosome (Xq27.3). The mutations take place during oogenesis. Patients will have enlarged testes, enlongated face, and large everted ears. This syndrome gets worse with each successive generation. Typically transmitted through daughters to the grandchildren.

Syndrome, Hunter

Characterized as a deficiency in L- Iduronosulfate Sulfatase. It is inherited via X linked recessive

Syndrome, Hurler

Characterized as a deficiency of Alpha L Iduronidase. Clinically we will see dwarfism, hepatosplenomegaly and a life expectancy between the ages of 6 - 10

Syndrome, Klinefelter

The most frequent form of genetic disease involving sex chromosomes. Clincially males will have hypogondaism, reduced spermatogenesis, and infertility. Physically males will have long limbs, gynecomastia, small genitalia, and eunuchoid body habitus. Genetically males will have two or more X chromosomes and at least one Y.

Syndrome, Lesch-Nyhan

The complete lack of Hypoxanthine Guanine Phosphoribosyl Transferase, this involves the salvage pathway of purine synthesis. There is an increase in purine nucleotides increasing uric acid. Patients will have high levels of uric acid, intellectual disability, spasticity and self mutilation

Syndrome, Marfan

A connective tissue disorder affecting the eyes and cardiovascular systems. There is a defect in Fibrillin 1 and 2 genes. Patients will be long and slender, have arachnodactyly, subluxation of the retina, and mitral valve prolase. Patients will have a positive wrist sign, thumb sign and pectus excuvatum. Most common cause of death is aortic dissection

Syndrome, Turner

Takes place due to a complete or partial removal of an X chromosome. Patients will look like females will underdeveloped sex characteristics. They will present with a webbed neck, be shorter in stature, broad chested, failure to menstrate

Systemic

affecting the entire body or organism, rather than being localized to a specific organ or tissue

Thrombosis arterial

Common cause of death and occulsions can lead to MI, Cardiomyopathy, and Atrial fibrillation

Thrombosis venous

Most occur in the superifical and deep veins of the leg. Associated with stasis and hypercoaguable states

TNF (tumor necrosis factor)

Plays a role in leukocyte recruitment. Help to regulate coagulation and inflammation. Regulates energy balance by promoting lipid and protein mobilization and suppressing appetite