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Comp 1 > Pathophys > Flashcards

Pathophys Flashcards

1
Q

Genetic disorder involving chromosome 15 inherited by mother

A

Angelman syndrome

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2
Q

Missing part of chromosome 5 - mutation at conception (rarely inherited) hi cat like cry

A

Cri di Chat

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3
Q

Trisomy 21 - extra chromosome in the 21st pair

symptoms: microcephaly, flat face, upward slanted eyes, short fingers, hypotonia

A

Downs syndrome

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4
Q

Mutation on X chromosome - inherited from mother (X linked recessive)
Prominent ears, large head with prominent forehead, flexible finger joints, high palate, flat feet, long face, mental retardation

A

Fragile X syndrome

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5
Q

Von Recklinghausen disease: affects many organs in the body especially the nervous system and skin
Cafe-au-lait spots, many freckles in the armpits, multiple small, rubbery lesions on the skin with purplish discoloration, bony abnormalities

A

Neurofibromatosis

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6
Q

Feeding problems and poor weight gain in infancy followed by extreme hunger, overeating, and obsession with food. Big weight gain between 1 and 6 yrs of age

A

Prader willi syndrome

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7
Q

Infant feeding problems, developmental delay, variable levels of mental retardation and skeletal anomolies and decreased sensitivity to pain. Hyperactivity and attention problems, easy speech/language delay

A

Smith-Magenis syndrome

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8
Q

Occurs in men who have and extra X chromosome

Infertility, less developed and less facial hair, many have language deficits

A

Klinefelters syndrome

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9
Q

Females with only one X chromosome

Short stature, webbed neck, underdeveloped breasts, abnormalities of the eyes and bones, no menstruation

A

Turner syndrome

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10
Q

Females with and extra X chromosome

Taller than average, increased risk of learning disabilities, developmental delays, behavioral problems

A

Triple X syndrome

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11
Q

Mild to moderate mental retardation, puffiness around eyes, limited mobility in joints, scoliosis, elevated blood calcium in infancy, cardiovascular disease caused by narrowed arteries, Personality overfriendliness and high levels of empathy with anxiety

A

Williams syndrome

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12
Q

Frequent bouts of bronchitis and pneumonia –> inflammation and permanent lung damage, diarrhea or bulky, foul-smelling and greasy stools

A

Cystic fibrosis

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13
Q

Insufficient iron impairs hemoglobin synthesis –> low hemoglobin concentration in cells, more common in women of childbearing age

A

Iron Deficiency anemia

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14
Q

Vitamin B12 deficiency or megaloblastic characterized by very large, immature, nucleated erythrocytes

A

Pernicious anemia

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15
Q

anemai due to impairment or failure of bone marrow

A

Aplastic anemia

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16
Q

Anemia with destruction of red blood cells

A

Hemolytic anemia

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17
Q

Autosomal recessive mutation in hemoglobin.
Sickle cell crisis occurs when oxygen levels are lowered
Deoxygenated hemoglobin is unstable and cyrstallize, change RBC shape from concave to sickle

A

Sickle cell anemia

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18
Q

Genes for some hemoglobin chains are missing or variant

Missing/replacement chains -> abnormal hemoglobin -> RBC hemolysis

A

Thalassemia

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19
Q

Increase production of RBCs

A

Polycythemia

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20
Q

Increase production of RBCs and other cells in the bone marrow
neoplastic disorder
Serum erythropoietin level is low

A

Primary- Polycythemia vera

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21
Q

Increase in RBCs in response to prolonged hypoxia
Increased erythropoietin secretion
Compensation mechanism to provide increased oxygen transport

A

Seconday polycythemia - Erythrocytosis

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22
Q

Reduction in platelets

causes include viral infection, chemotherapy or radiation

A

Throbocytopenia

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23
Q

Most common inherited clotting disorder (X-linked recessive)

Deficit or abnormalitiy of factor VIII

A

Hemophilia A

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24
Q

Excessive clotting and excessive bleeding in circulation
Thrombi and infarct occur -> consuming clotting factors
Widespread, uncontrollable hemorrhage

A

Disseminated intravascular Coagulation DIC

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25
Q

Group of neoplastic disorders involving WBCs
uncontrollable production in bone marrow or lymph nodes, one or more types of leukocytes are undifferentiated, immature and nonfuncitonal

A

Leukemia

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26
Q

Leukemia where precursors of B lymphocytes are affected

A

Lymphocytic Leukemia

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27
Q

Leukemia where precursors of granulocytes are affected

A

Myelogenous leukemia

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28
Q

High proportion of immature, nonfuncitonal cells in bone marrow and peripheral circulation, abrupt onset, primarily in children and younger adults

A

Acute Leukemia

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29
Q

Higher proportion of mature cells with reduced function, insidious onset and common in older people

A

Chronic Leukemia

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30
Q

Neoplastic diseases characterized by increased production of plasma cells in bone marrow, production of other blood cells impaired

A

Multiple myeloma or plasma cell myeloma

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31
Q

Benign lesions usually associated with aging and skin damage

A

Keratoses

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32
Q

Keratoses with proliferation of basal cells

A

Seborrheic Keratosis

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33
Q

Keratosis with skin exposed to UV radiation, common in fair skinned people, lesions appear as pigmented, scaly patch

A

Actinic Keratosis

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34
Q

Painless, malignant tumor of the epidermis

Lesions most commonly found on exposed areas of skin and oral cavity

A

Squamos Cell carcinoma

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35
Q

Highly metastatic form of skin cancer - develops in melanocytes

A

Malignant Melanoma

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36
Q

ABCD or melanoma

A

Increase in area
Change in border
Change in color
Increase in diameter

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37
Q

Occurs in AIDS and other immune dificiencies

Malignant cells arise from endothelium in small blood vessel

A

Kaposi Sarcoma

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38
Q

Excessive amount of fluid in the interstitial compartment

A

Edema

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39
Q

Insufficient body fluid - decreased intake/excessive loss

A

Dehydration

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40
Q

Impaired nerve conduction, fluid imbalance in compartments, fatigue, muscle cramps, abdominal discomfort, nausea/vomiting
fluid shift into cells

A

Hyponatremia

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41
Q

Fluid shifts out of cells

Edema, weakness and agitation, dry, rough mucous membranes, increased thirst, firm subcutaneous tissue, increased BP

A

Hypernatremia

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42
Q

Cardiac dysrhythmias due to impaired repolarization, interference with neuromuscular function, paresthesias, decreased digestive tract motility

A

Hypokalemia

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43
Q

Cardiac dysrhythmias

Muscle weakness common, fatigue, nausea, paresthesias

A

Hyperkalemia

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44
Q

Increased permeability and excitability of nerve membranes, spontaneous stimulation of skeletal muscle, weak heart contractions

A

Hypocalcemia

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45
Q

Depressed neuromuscular activity, muscle weakness, lethargy, increased strength in cardiac contraction

A

Hypercalcemia

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46
Q

Neuromuscular hyperirritability with tremors

Heart arrhythmia

A

Hypomagnesemia

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47
Q

Depresses neuromuscular function

deceased reflexes

A

Hypermagnesemia

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48
Q

General term for all types of arterial changes

A

Arteriosclerosis

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49
Q

Presence of atheromas in large arteries

Plaques consisting of lipids, calcium, and possibly blood clots

A

Atherosclerosis

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50
Q

Partial block of blood flow to myocardium - temporary cardiac ischemia
Chest pain occurring when there is a deficit of oxygen to meet myocardial needs

A

Angina pectoris

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51
Q

Coronary artery totally obstructed -> prolonged ischemia -> cell death

A

Myocardial infaction

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52
Q

Heart unable to pump out sufficient blood to meet metabolic demands of the body

A

Congestive heart failure

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53
Q

Occurs due to scar tissue formed from rheumatic fever

acute systemic inflammatory condition, heart is only site where scar tissue forms

A

Rheumatic Heart Disease

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54
Q

Inflammation of the heart

A

Endocarditis
Myocarditis
Pericarditis

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55
Q

Microorganism attaches to endocardium -> invades heart valves -> inflammation -> damage to valves

A

Infective Endocarditis

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56
Q

Inflammation of the pericardium

A

Pericarditis

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57
Q

Occurs when circulating blood volume is decreased leading to decreased tissue perfusion and general hypoxia

A

Circulatory Shock

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58
Q

Shock due to loss of circulating blood volume

A

Hypovolemic shock

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59
Q

Shock due to inability of heart to maintain cardiac output to circulation

A

Cariogenic shock

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60
Q

Shock due to relocation of blood to periphery

A

Distributive or Vasogenic shock

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61
Q

Inflammation in lungs due to infection

Infection-> inflammation in alveolar sacs -> fluid accumulation -> reduced oxygen exchange -> difficulty breathing

A

Pneumonia

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62
Q

Bronchial obstruction in individuals with hypersensitive or hyperresponsive airways

A

Asthma

63
Q

Destruction of alveolar walls and septae due to breakdown of elastin
Associated with dificiency of Alpha 1 antitrypsin

A

Emphysema

64
Q

Irreversible, progressive changes of the bronchi. mucosa inflamed and swollen, fibrosis and thickening of bronchial wall

A

Chronic Bronchitis

65
Q

Permanent dilation of the medium sized bronchi caused by recurrent inflammation and infection

A

Bronchiectasis

66
Q

Group of disorders with impaired lung expansion and reduced total lung capacity

A

Restrictive lung disorders

67
Q

Inflammation leading to development of fibrosis (stiff lung) - loss of funcitonal areas of the lungs

A

Pneumoconioses

68
Q

Fluid collection in alveoli and interstitial area. reduces amount of oxygen diffusing into blood and interferes with lung expansion

A

Plumonary edema

69
Q

Blood clot obstructs pulmonary artery or its branch

A

Pulmonary Embolism

70
Q

Nonaeration or collapse of lung or part of lung, alters both ventilation and perfusion

A

Atelectasis

71
Q

Presence of excessive fluid in the pleural cavity causing increased pressure in pleural cavity

A

Pleural effusion

72
Q

Air in pleural cavity leads to atelectasis

A

Pneumothorax

73
Q

Injury to alveolar wall and capillary membrane resulting in release of chemical mediators

A

Acute respiratory distress syndrome

74
Q

types of UTIs

A

Cystitis

Pyelonephritis

75
Q

Bladder and wall and urethra are inflamed
S and S
Hyperactive bladder, Bladder capacity reduced, Pain in the pelvic area, Dysuria, Nocturia, Urgent, frequent urination pattern

A

Cystitis

76
Q

Infection in the bladder or urethra extends from ureter into kidney, Purulent exudate fills renal pelvis
Signs/Symptoms
Signs of cystitis, Dull, aching pain in lower back

A

Pyelonephritis

77
Q

Type III hypersensitivity reaction causes inflammation
Signs/Symptoms
Urine dark and cloudy, Facial and preorbital edema (early) followed by general edema, Elevated BP – due to increased renin and decreased GFR, Flank or back pain, inflammation, Decreased urine output

A

Glomerulonephritis

78
Q

Secondary to other renal diseases leading to abnormal glomerular capillaries
o General edema
o Lipiduria

A

Nephrotic Syndrome

79
Q

Primary tumor arising from the tubule epithelium
o Asymptomatic in early stages
o Painless hematuria (initial sign)

A

Renal Cell Carcinoma – Adenocarcinoma of Kidney

80
Q

Tumor arising from epithelium of the bladder
o Hematuria
o Dysuria
o Infections

A

Bladder Cancer

81
Q

Thickening and hardening of the walls of small arteries and arterioles of the kidneys
Narrowing of the blood vessel lumen
o Reduced blood supply to kidney

A

Nephrosclerosis

82
Q

Multiple cysts develop in both kidneys
o Enlargement of kidneys
o Compression and destruction of kidney tissue
Chronic renal failure

A

Adult Polycystic Kidney Disease

83
Q

Difficulty swallowing

A

Dysphagia

84
Q

Primarily squamous cell carcinoma Most common in distal esophagus
o Do not occur until later stages (poor prognosis)
o Significant dysphagia in later stages

A

Esophageal Cancer

85
Q

Part of the stomach protrudes through the hiatus into the thoracic cavity
o Heartburn or pyrosis
o Frequent belching
o Increased discomfort when laying down

A

Hiatal Hernia

86
Q

Reflux of gastric contents into distal esophagus due to decreased competence of the cardiac sphincter
Causes erosion and inflammation

A

Gastroesophageal Reflux Disease (GERD)

87
Q

Acute – stomach mucosa is inflamed
o May result in ulceration and bleeding
Chronic – stomach mucosa is atrophied
o Increased risk of peptic ulcers and gastric carcinoma

A

Gastritis

88
Q

Narrowing and obstruction of pyloric sphincter
o Projectile vomiting immediately after feeding
o Infant fails to gain weight
o Dehydration
o Persistent hunger

A

Pyloric Stenosis

89
Q

inflammation of gallbladder and cystic duct

A

Cholecystitis

90
Q

inflammation due to infection of bile ducts

A

Cholangitis

91
Q

presence of gallstones

Pain in right upper quadrant

A

Cholelithiasis

92
Q

obstruction of the biliary tract by gallstones

A

Choledocholithiasis

93
Q

increased level of bilirubin in the blood

A

Hyperbilirubinemea

94
Q

unconjugated bilirubin elevated

Result of excessive destruction of RBCs

A

Prehepatic Hyperbilirubinemea

95
Q

both unconjugated and conjugated bilirubin may be elevated

Occurs with disease or damage to hepatocytes

A

Intrahepatic Hyperbilirubinemea

96
Q

conjugated bilirubin increased

Caused by obstruction of bile flow into gallbladder or duodenum

A

Posthepatic Hyperbilirubinemea

97
Q

Inflammation of the liver
Fatigue, Anorexia, Nausea, Pain to right shoulder and right mid-back, Joint pain, Dark urine and/or light stools, Jaundice, Tenderness in right upper abdominal quadrant

A

Hepatitis

98
Q

Progressive destruction of the liver – leads to liver failure when 80-90% of liver is destroyed

A

Cirrhosis

99
Q

most common primary tumor of liver

A

Hepatocellular carcinoma

100
Q

Inflammation of the pancreas resulting from autodigestion of the tissue

A

Acute Pancreatitis

101
Q

Malabsorption syndrome – defect in intestinal enzyme prevents further digestion of gliadin

A

Celiac Disease

102
Q

Inflammation and fibrosis of the small intestine, Obstruction of the lumen, Thick walls develop, Stimulation of intestinal motility
o Diarrhea
o Pain

A

Crohns Disease

103
Q

Inflammation of the rectum and colon – mucosa and submucosa, Interferes with absorption of fluid and electrolytes in the colon
o Diarrhea – up to 12 stools per day
o Cramps

A

Diverticulitis

104
Q

Deficit of GH production/release

Deficit of somatotropin-releasing hormone

A

Dwarfism

105
Q

Excess growth hormone prior to puberty

A

Gigantism

106
Q

Excess GH secretion in adults

Bones become broader and heavier, soft tissues grow

A

Acromegaly

107
Q

large volume of diluted urine

No glucose in urine

A

Polyuria

108
Q

Autoantibody against TSH receptor -> negative feedback mechanism does not work
 Hypermetabolism and increased stimulation of SNS
Increased body temperature
Sweating, Reduced BMI, Increased appetite, Insomnia, Hyperactivity , Goiter, Exophthalmos , Tachycardia

A

Grave’s Disease (Hyperthyroidism)

109
Q

Autoantibodies attack thyroid gland proteins  inflammation of thyroid  gland underperforms
Cold intolerance, Decreased appetite, Unexplained weight gain, Bradycardia, Lethargy, Fatigue

A

Hashimoto’s Thyroiditis (Hypothyroidism)

110
Q

Non-pitting edema in face

Thickened tongue

A

Myxedema (hypothyroidism)

111
Q

Untreated congenital hypothyroidism

Impaired growth and severe cognitive deficits

A

Cretinism (hypothyroidism)

112
Q

Excessive level of glucocorticoids
hypertension and edema, Suppression of immune response, Suppression of inflammatory response, Decreased stress response
 Moon face
 Truncal obesity with fat pad b/w scapula (buffalo hump)

A

Cushing’s Syndrome

113
Q

o Deficiency of adrenocorticosteroid hormones
Decreased blood glucose levels, Fatigue, Weight loss, Frequent infections, Hyponatremia,Decreased blood volume, Hypotension, Hyperkalemia, Decreased body hair, Hyperpigmentation of extremities, Skin creases

A

Addison’s Disease

114
Q

Largest category of primary malignant tumors in brain

Classified according to cell origin and location

A

Gliomas

115
Q

tumors in meninges

A

Meningioma

116
Q

tumors in pituitary gland

A

Adenoma

117
Q

Temporary localized reduction of blood flow in the brain
o Vascular spasm
o Local loss of autoregulation
Possible warning sign before a stroke

A

Transient Ischemic Attacks

118
Q

Infarction of brain tissue due to lack of blood
Ischemia – occlusion of a cerebral blood vessel
Hemorrhage – rupture of cerebral artery

A

Cerbrovascular Accidents

119
Q

Localized dilation in the wall of an artery in brain (weakness in the wall)
• May rupture from a sudden increase in BP

A

Cerebral Aneurysms

120
Q

Bacterial infection in the meninges of the CNS – infection spreads rapidly
Infection -> inflammation -> edema -> increased ICP

A

Meningitis

121
Q

Localized infection resulting in necrosis of tissue and edema of the surrounding area in brain

A

Brain Abscess

122
Q

Infection of parenchymal or connective tissue in the brain and spinal cord
Necrosis and inflammation develop

A

Encephalitis

123
Q

Viral infection travels along peripheral nerve to CNS  necrosis and inflammation
o To salivary glands
Difficulty swallowing , Foaming at the mouth, Hydrophobia, Respiratory failure -> death

A

Rabies (Hydrophobia)

124
Q

Infection through a puncture wound by C. tetani

Skeletal muscle spasms, Jaw stiffness, Difficulty swallowing, Stiff neck, Respiratory failure

A

Tetanus

125
Q

Polio virus attacks motor neurons of the spinal cord and medulla
Fever, Headache, Vomiting, Stiff neck, Pain, Flaccid paralysis

A

Poliomyelitis (Infantile Paralysis)

126
Q

Progressive demyelination of neurons in the brain, spinal cord, and cranial nerves
o Loss of myelin interferes with conduction of impulses in affected fibers (motor, sensory, or autonomic)

A

Multiple Sclerosis

127
Q

• Progressive degenerative disorder – decreased number of dopamine secreting neurons in the Substantia Nigra

A

Parkinson’s Disease

128
Q

Progressive degenerative disease affecting motor neurons
o Sensory neurons and neurons of eye muscles are unaffected
o Neuronal loss occurs in a diffuse pattern
 Loss of UPNs – spastic paralysis, hyperreflexia
 Loss of LPNs – flaccid paralysis
• Progressive muscle weakness and loss of fine motor coordination
• Death occurs due to respiratory failure

A

Amyotrophic Lateral Sclerosis (ALS) – Lou Gehrig’s Disease

129
Q

Auto-antibodies to acetylcholine receptors at the NMJ preventing binding of acetylcholine
Muscle weakness in face and eyes occurs first, Drooping eyelids, Skeletal muscle of arms and trunk affected next, Impaired vision, Monotone, Difficulty chewing and swallowing, Dysphagia and aspiration are significant problems,Head droops, Upper respiratory infections, Drooling

A

Myasthenia Gravis

130
Q

Progressive neurodegenerative disorder involving a mutation in the Huntingtin gene
o Huntingtin gene interacts with proteins involved in signal transduction and intracellular transport
Progressive atrophy of brain – particularly in basal ganglia and frontal cortex, Depletion of GABA in the basal nuclei, Mood swings, personality changes, Restlessness, Choreiform movements in arms and face, Intellectual impairments

A

Huntington’s Disease

131
Q

Inflammatory condition of the PNS causing demyelination and axon destruction, Causes impaired nerve conduction, Starts in legs, ascends to spinal nerves, neck, cranial nerves, Damage is reversible
Numbness and tingling in the fingers/toes, Leads to weakness in the arms, legs, face, and respiratory muscles, Weakness begins in the lower portion of the body and rapidly moves upward, Lose sensation where there is weakness, Temporary limb paralysis, Pain and abnormal sensations, Loss of reflexes

A

Guillain-Barre Syndrome

132
Q

Caused by varicella-zoster virus in adults
Infection usually effects one CN or one dermatome,
Pain, paresthesia, Lesions and pain persist for several weeks

A

Herpes Zoster – Shingles

133
Q

Infection occurring 10-40 years after recovery from original infection
Progressive and debilitating fatigue, weakness, pain, and muscle atrophy, More severe original infection  more severe effects of PPS

A

Post-Polio Syndrome

134
Q

Progressive chronic disease with decreased cortical function
Impaired cognitive skills, Impaired thinking, judgment, and learning, Memory loss, Confusion, Behavioral and personality changes

A

Dementia

135
Q

Syndrome characterized by a tendency to experience recurrent seizures

A

Epilepsy

136
Q

Decrease in bone mass and density
Bone resorption exceeds formation
Affects bones with higher proportion of cancellous bone

A

Osteoporosis

137
Q

Results from deficit of vitamin D and phosphates,Dietary deficits, Malabsorption, Lack of sun exposure
Deep pain in extremities, pelvis, or spine, Slow growth, Increased bone fractures and deformities, Poor teeth

A

Rickets and Osteomalacia

138
Q

Excessive bone destruction with replacement by fibrous tissue and abnormal bone
Complications: Compression fractures, Kyphosis

A

Paget’s Disease

139
Q

Mutation in collagen I gene – autosomal dominant inheritance
Bones are extremely fragile**, Short stature, Blue sclera, Weak muscles , Loose joints, Flat feet, Brittle teeth, Early hearing loss, Bowed arms and legs

A

Osteogenesis Imperfecta – Brittle Bone Disease

140
Q

Temporary reduced blood supply to the head of the femur
Femoral head dies -> inflammation/irritation of the hip -> limping and pain
Most common in boys aged 2-12

A

Legg-Calve-Perthes Disease

141
Q

Infection of the bone -> inflammation -> spread of infection to adjacent tissues -> necrosis
Pain, Swelling, Redness, Warmth, Fever, Leukocytosis

A

Osteomyelitis

142
Q

occurs in the metaphysis of long bones of the leg

• Common in children, adolescents, and young adults

A

Osteosarcoma (most common)

143
Q

occurs in the diaphysis of long bones of leg

• Common in adolescents

A

Ewing’s Sarcoma

144
Q

arise from cartilage cells

• More common in adult > 30 y/o

A

Chondrosarcoma

145
Q

Uneven gluteal folds
Lax ligaments
Barlow’s Test – adduct hips and push down, listen for a click
Ortolani’s Test – flex hips to 90 degrees and abduct, listen for a click

A

Developmental Hip Dysplasia

146
Q

Lateral curvature of the spine affecting the thoracic or lumbar area or both

A

Scoliosis

147
Q

X-linked autosomal recessive disorder – mutation in the dystrophin gene
Connects the cytoskeleton of the muscle fiber to the surround extracellular matrix

A

Muscular Dystrophy

148
Q

Limited ROM of neck, Headaches, Neck muscle tremors/spasms, Neck pain, Elevated shoulder, High tone in neck muscle, Swelling of the neck muscles

A

Torticollis

149
Q

Loss of blood supply to the forearm (brachial artery)

Sudden onset of pain, Cyanosis of fingers, Absent radial pulse, Contractures (caused by 6 hours of ischemia)

A

Volkmann’s Ischemic Dontracture

150
Q

• Degenerative wear and tear of the joint
Articular cartilage damage, Inflammation and edema develop, Release of MMPs due to tissue damage -> accelerating cartilage degradation, Subchondral bone may be exposed and damaged, Formation of bone spurs, Joint space becomes narrower

A

Osteoarthritis

151
Q

Chronic systemic inflammatory disease – autoimmune

Inflammation of synovial membrane  red, swollen painful joints

A

Rheumatoid Arthritis

152
Q

Inflammation and cartilage damage resulting from deposits of uric acid and crystals in the joint
Often affects the big toe

A

Gout

153
Q

Chronic progressive inflammatory condition affecting the SI joint, costovertebral joints, and intervertebral spaces
Ankylosis – joint fixation
Spondylitis – inflammation of a spinal joint

A

Ankylosing Spondylitis

154
Q

CAUTION

A 
Change in bowel or bladder habits
A sore that does not heal
Unusual bleeding or discharge
Thickening or lump in the breast
Indigestion or difficulty swallowing
Obvious change in wart or mole
Nagging cough or hoarseness

Comp 1 (17 decks)

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