Patho Final

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Expressivity

Expressivity

Variation in phenotype associated with an allele (severity of the disease can vary) Ex: neurofibromatosis type 1

Autosomal Dominant Inheritance

A single copy of the defective gene produces clinical expression of the disease in both males and females (no carriers)

Autosomal Recessive Inheritance

Both parents must pass on the defective gene to produce an affected (homozygous) male or female child

X-linked recessive inheritance

A male carrying the defective gene on the X chromosome will be affected, but a heterozygous female will be an unaffected carrier

X-linked dominant inheritance

A single copy of the defective gene on the X chromosome is enough to cause the disease in both males and females

Atrophy

decrease in cell size

Hypertrophy

increase in cell size

Hyperplasia

increase in number of cells

Metaplasia

replacement of one mature cell type by another cell type

Dysplasia

deranged cellular growth, can be pre-cancerous

Physiologic (normal), Pathologic (adverse)

Cellular adaptation is a reversible cellular response to accommodate demands and conditions

Reversible Cell Injury

The cell may be able to recover if the damaging factor is removed quickly

Irreversible/ Lethal cell injury

If damage increases/persists, structural changes in the cells/organelles can occur and lead to cell death

Apoptosis

A programmed cell death, does not cause further inflammation

Necrosis

when cells die and cause inflammation and damage/destruction to nearby cells

Gangrene

An area of necrotic tissue, usually associated with a lack or loss of blood supply, that becomes infected with bacteria

Amputation

Gangrenous tissue frequently must be removed by _ to prevent the spread of infection

1.Increased capillary hydrostatic pressure

2.decreased plasma osmotic pressure (loss of plasma proteins)

3.increased capillary membrane permeability (ex: Inflammatory response)

4.lymphatic channel obstruction (Lymphedema)

Edema can be caused by:

Antidiuretic Hormone (ADH)

The major hormone that regulates water loss is

1.Compensation : act quickly to temporarily bind H+, removing them from solution (not the body)

2.Exhalation of carbon dioxide. •reduces the level of carbonic acid (a "volatile" acid) in blood, which raises the blood pH

3.Kidney secretion of H+ •can also adjust serum bicarbonate levels.

Three mechanisms control or compensate for pH:

Respiratory acidosis

An increase in carbon dioxide levels (acid) due to respiratory problems

Respiratory Alkalosis

Increased respirations cause a decrease in carbon dioxide (less acid)

Metabolic acidosis

A decrease in bicarbonate ions (base) because of metabolic or renal problems

Metabolic alkalosis

Loss of H+ through the kidneys or the gastrointestinal tract

Compensation

The physiological response that acts to normalize blood pH.

Hypersensitivity

An excessive or inappropriate immune response to an allergen/sensitizing antigen

Type I (Hypersensitivity)

•Immediate (2-30 min after exposure) response driven by IgE

•Reactions range from including skin rashes, hay fever, vomiting, anaphylaxis, and anaphylactic shock

Type II (Hypersensitivity)

Circulating antibodies (IgG and IgM) react with foreign cell surface antigens

Type III (Hypersensitivity)

•Involve antibodies against antigens circulating in the serum.

•the antigen combines with the antibody, forming a complex

•The antigen-antibody complexes are deposited in organs, tissues, joints and cause inflammatory damage

Type IV (Hypersensitivity)

Does not rely on antibodies, mediated by T cells

Neoplasm (AKA tumor)

A cellular growth that is no longer responding to normal body controls

Cancer

A malignant neoplasm

Carcinoma

A malignant tumor located in epithelial tissue

Sarcoma

A malignant tumor located in connective tissue

Prognosis

Expected outcome of the disease. For cancer, can be based on the staging

Benign

•usually consist of differentiated cells that reproduce at a higher-than-normal rate.

•often encapsulated and expands but does not spread

•usually freely moveable on palpation.

•Remains localized, systemic effects are rare

•can become extremely large and, depending on their location in the body, can cause morbidity or be life-threatening.

Malignant

•usually composed of undifferentiated, unorganized, nonfunctional cells

•Cell membranes, including surface antigens, are altered.

•cells have lost cellular connections with each other

•cells often show abnormal mitotic features

•increased uptake of nutrients, depriving normal cells

•Some cancer cells secrete growth factors, which stimulate angiogenesis (the development of new capillaries in the tumor)

•cells infiltrate into surrounding tissue and may metastasize

•Systemic effects often present

•Life threatening due to tissue destruction and tumor spread

Invasion

Local spread, in which the tumor cells grow into adjacent tissue

Metastasis

Spread to distant sites by blood or lymphatic vessels.

Seeding

The spread of cancer cells along membranes, usually in body cavities.

Coma

A state of unconsciousness in which an individual has little or no response to stimuli.

Brain death

No brain function exists; irreversible.

Seizures

A burst of uncontrolled electrical activity between neurons that causes temporary abnormalities in muscle tone or movement, behaviors, sensations, states of awareness, and possibly loss of consciousness

Aphasia

An inability to use or comprehend words

Decorticate responses

May occur in persons with severe damage in the cerebral hemispheres •Rigid flexion of arms, wrists, and fingers, with adducted arms and internal rotation of the hands •Extension, internal rotation, and plantar flexion in lower extremities.

Decerebrate responses

occur in persons with brain stem lesions and CNS depression caused by systemic effects. •All four extremities in rigid extension, with hyperpronation of forearms and plantar flexion of feet.

Transient Ischemic Attack (TIA)

A temporary localized reduction of blood flow in the brain. •Recovery usually occurs within 24 hours. •Repeated attacks are frequently a warning of the development of obstruction related to atherosclerosis

Cerebrovascular accidents (CVA stroke)

An infarction of brain tissue

Signs and Symptoms

Of a CVA depend on the location of the obstruction, the size of the artery involved, and the functional area affected

Meningitis

An infection in the meninges (can be bacterial, fungal, protozoal, viral)

Aseptic Meningitis

Meningitis from a viral infection

Dementia

A general term for a progressive failure of many cerebral functions

Primary Brain injury

The direct injury to the brain

Secondary Brain Injury

The changes that evolve over a period of time (from hours to days) after the primary brain injury.

Spinal Shock

The initial period after spinal cord injury, where all conduction ceases in the nerve tracts and in the gray matter

Neurogenic Shock

Caused by the absence of sympathetic activity and unopposed parasympathetic tone (mediated by the intact vagus nerve)

Adenoma (a benign tumor of a gland)

The most common cause of endocrine disorders is the development of an

Type 1 Diabetes

Patient doesn't produce enough insulin, destruction of the pancreatic beta cells in an autoimmune reaction, occurs more frequently in children and adolescents

Type 2 Diabetes

Patient doesn't respond to insulin, later in the disease doesn't make enough insulin., Acquired - lifestyle factors such as poor diet, inactivity, and the presence of pre-diabetes greatly increase a person's risk, occurs more frequently in adults

Gestational Diabetes

May develop during pregnancy and disappear after delivery of the child.

Pernicious Anemia

Most commonly caused by the malabsorption of vitamin B12 owing to a lack of intrinsic factor produced in the glands of the gastric mucosa

Von Willebrand disease

Inherited abnormal gene that controls Von Willebrand factor

Von Willebrand factor

A blood clotting protein made by endothelial cells, helps platelets stick together and adhere to the walls of blood vessels at the site of a wound.

Disseminated Intravascular Coagulation (DIC)

Causes abnormal blood clotting throughout the body's blood vessels.

Lymphoma

A cancer of lymphocytes

Leukemia

One or more leukocyte types are present as undifferentiated, immature, and/or nonfunctional cells that multiply uncontrollably in the bone marrow, and are released into the circulation

Hodgkin Lymphoma

spreads in an orderly manner from one group of lymph nodes to another.

Non-Hodgkin Lymphoma

Spreads through the lymphatic system in a non-orderly manner.

Coronary Artery Disease

atherosclerosis of the coronary arteries

Angina (chest pain)

occurs when there is a deficit of oxygen to the heart muscle (myocardial ischemia).

Collateral Circulation

The presence of _ may reduce the size of the infarct

ECG (electrocardiogram)

Can be used to detect abnormal electrical activity in the heart.

Left side CHF

If the left ventricle cannot pump all of its blood into the systemic circulation, the normal volume of blood returning from the lungs cannot enter the left side of the heart.

Right side CHF

The right ventricle cannot maintain its output, so less blood proceeds to the left side of the heart and the systemic circulation

Congestion

Develops in the circulation behind the affected ventricle.

Valvular Stenosis

Narrowing of a valve, which restricts the forward flow of blood

Valvular Incompetence

A failure of a valve to close completely, allowing blood to regurgitate or leak backward.

Hypoxemia

Reduced oxygenation of arterial blood

Cheyne-strokes respirations

Apnea alternating regularly with respiratory cycles characterized by gradually increasing and then decreasing rates and depth of breathing

Flail chest

Results from the fracture of several consecutive ribs in more than one place or fracture of the sternum and several consecutive ribs.

Mediastinal flutter

Occurs as the lungs shift back and forth due to pressure changes, the mediastinum is pushed to and from.

Venous Return

The pressure changes and possible kinking of the inferior vena cava interferes with _ to the heart and thus reduces cardiac output

Pneumothorax

The presence of air in the pleural space, caused by a rupture in the visceral pleura or the parietal pleura and chest wall.

Mediastinal shift

Caused by pressure against the mediastinum, compressing and displacing the heart, great vessels, and trachea

Restrictive Lung Disease

Include conditions that make it hard fully expanding their lungs with air

Obstructive Lung Disease

Include conditions that make it hard to exhale all the air in the lungs.

Aspiration

The passage of food, fluid, vomitus, or other foreign material into the trachea and lungs.

Atelectasis

Nonaeration or collapse of a lung or part of a lung causing decreased gas exchange and hypoxia.

Pulmonary Edema

Fluid collecting in the alveoli and interstitial area, interferes with the diffusion of oxygen and with the action of surfactant (airways ultimately collapse)

Asthma

A disease that involves periodic episodes of severe but reversible bronchial obstruction in persons with hypersensitive or hyper responsive airways. •The bronchi and bronchioles respond with 3 changes: 1.Inflammation of the mucosa with edema 2.Contraction of smooth muscle (bronchoconstriction) 3.Increased secretion of thick mucus in the passages

Chronic Obstructive Pulmonary Disease (COPD)

A group of chronic respiratory disorders characterized by progressive, irreversible tissue degeneration and obstruction of airflow from the lungs.

Chronic Bronchitis

Chronic inflammation of the lining of the bronchial tubes; causing irreversible, progressive changes

Emphysema

An abnormal, permanent enlargement of gas-exchange airways (acini) accompanied by destruction of alveolar walls

Barrel Chest

Fixation of the ribs in an inspiratory position and an increased anterior-posterior diameter of the thorax

Blebs or Bullae

Adjacent damaged alveoli coalesce, forming very large air spaces

Pulmonary Embolism

A blood clot (or other mass) that obstructs the pulmonary artery or a branch of it, blocking the flow of blood through the lung tissue.

Pulmonary Infarction/shock.

Larger emboli can cause

Pulmonary Arterial Hypertension

Pulmonary artery pressure greater than 25 mm Hg at rest (normal is 15 to 18 mm Hg).

Cor Pulmonale

Right-sided congestive heart failure due to lung disease

Gastroesophageal Reflux Disease (GERD)

Involves the periodic flow of gastric contents into the esophagus.