Pathophys Flashcards
1
Q
Genetic disorder involving chromosome 15 inherited by mother
A
Angelman syndrome
2
Q
Missing part of chromosome 5 - mutation at conception (rarely inherited) hi cat like cry
A
Cri di Chat
3
Q
Trisomy 21 - extra chromosome in the 21st pair
symptoms: microcephaly, flat face, upward slanted eyes, short fingers, hypotonia
A
Downs syndrome
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
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
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
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
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
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
10
Q
Females with and extra X chromosome
Taller than average, increased risk of learning disabilities, developmental delays, behavioral problems
A
Triple X syndrome
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
12
Q
Frequent bouts of bronchitis and pneumonia –> inflammation and permanent lung damage, diarrhea or bulky, foul-smelling and greasy stools
A
Cystic fibrosis
13
Q
Insufficient iron impairs hemoglobin synthesis –> low hemoglobin concentration in cells, more common in women of childbearing age
A
Iron Deficiency anemia
14
Q
Vitamin B12 deficiency or megaloblastic characterized by very large, immature, nucleated erythrocytes
A
Pernicious anemia
15
Q
anemai due to impairment or failure of bone marrow
A
Aplastic anemia
16
Q
Anemia with destruction of red blood cells
A
Hemolytic anemia
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
18
Q
Genes for some hemoglobin chains are missing or variant
Missing/replacement chains -> abnormal hemoglobin -> RBC hemolysis
A
Thalassemia
19
Q
Increase production of RBCs
A
Polycythemia
20
Q
Increase production of RBCs and other cells in the bone marrow
neoplastic disorder
Serum erythropoietin level is low
A
Primary- Polycythemia vera
21
Q
Increase in RBCs in response to prolonged hypoxia
Increased erythropoietin secretion
Compensation mechanism to provide increased oxygen transport
A
Seconday polycythemia - Erythrocytosis
22
Q
Reduction in platelets
causes include viral infection, chemotherapy or radiation
A
Throbocytopenia
23
Q
Most common inherited clotting disorder (X-linked recessive)
Deficit or abnormalitiy of factor VIII
A
Hemophilia A
24
Q
Excessive clotting and excessive bleeding in circulation
Thrombi and infarct occur -> consuming clotting factors
Widespread, uncontrollable hemorrhage
A
Disseminated intravascular Coagulation DIC
25
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
Leukemia
26
Leukemia where precursors of B lymphocytes are affected
Lymphocytic Leukemia
27
Leukemia where precursors of granulocytes are affected
Myelogenous leukemia
28
High proportion of immature, nonfuncitonal cells in bone marrow and peripheral circulation, abrupt onset, primarily in children and younger adults
Acute Leukemia
29
Higher proportion of mature cells with reduced function, insidious onset and common in older people
Chronic Leukemia
30
Neoplastic diseases characterized by increased production of plasma cells in bone marrow, production of other blood cells impaired
Multiple myeloma or plasma cell myeloma
31
Benign lesions usually associated with aging and skin damage
Keratoses
32
Keratoses with proliferation of basal cells
Seborrheic Keratosis
33
Keratosis with skin exposed to UV radiation, common in fair skinned people, lesions appear as pigmented, scaly patch
Actinic Keratosis
34
Painless, malignant tumor of the epidermis
| Lesions most commonly found on exposed areas of skin and oral cavity
Squamos Cell carcinoma
35
Highly metastatic form of skin cancer - develops in melanocytes
Malignant Melanoma
36
ABCD or melanoma
Increase in area
Change in border
Change in color
Increase in diameter
37
Occurs in AIDS and other immune dificiencies
| Malignant cells arise from endothelium in small blood vessel
Kaposi Sarcoma
38
Excessive amount of fluid in the interstitial compartment
Edema
39
Insufficient body fluid - decreased intake/excessive loss
Dehydration
40
Impaired nerve conduction, fluid imbalance in compartments, fatigue, muscle cramps, abdominal discomfort, nausea/vomiting
fluid shift into cells
Hyponatremia
41
Fluid shifts out of cells
| Edema, weakness and agitation, dry, rough mucous membranes, increased thirst, firm subcutaneous tissue, increased BP
Hypernatremia
42
Cardiac dysrhythmias due to impaired repolarization, interference with neuromuscular function, paresthesias, decreased digestive tract motility
Hypokalemia
43
Cardiac dysrhythmias
| Muscle weakness common, fatigue, nausea, paresthesias
Hyperkalemia
44
Increased permeability and excitability of nerve membranes, spontaneous stimulation of skeletal muscle, weak heart contractions
Hypocalcemia
45
Depressed neuromuscular activity, muscle weakness, lethargy, increased strength in cardiac contraction
Hypercalcemia
46
Neuromuscular hyperirritability with tremors
| Heart arrhythmia
Hypomagnesemia
47
Depresses neuromuscular function
| deceased reflexes
Hypermagnesemia
48
General term for all types of arterial changes
Arteriosclerosis
49
Presence of atheromas in large arteries
| Plaques consisting of lipids, calcium, and possibly blood clots
Atherosclerosis
50
Partial block of blood flow to myocardium - temporary cardiac ischemia
Chest pain occurring when there is a deficit of oxygen to meet myocardial needs
Angina pectoris
51
Coronary artery totally obstructed -> prolonged ischemia -> cell death
Myocardial infaction
52
Heart unable to pump out sufficient blood to meet metabolic demands of the body
Congestive heart failure
53
Occurs due to scar tissue formed from rheumatic fever
| acute systemic inflammatory condition, heart is only site where scar tissue forms
Rheumatic Heart Disease
54
Inflammation of the heart
Endocarditis
Myocarditis
Pericarditis
55
Microorganism attaches to endocardium -> invades heart valves -> inflammation -> damage to valves
Infective Endocarditis
56
Inflammation of the pericardium
Pericarditis
57
Occurs when circulating blood volume is decreased leading to decreased tissue perfusion and general hypoxia
Circulatory Shock
58
Shock due to loss of circulating blood volume
Hypovolemic shock
59
Shock due to inability of heart to maintain cardiac output to circulation
Cariogenic shock
60
Shock due to relocation of blood to periphery
Distributive or Vasogenic shock
61
Inflammation in lungs due to infection
| Infection-> inflammation in alveolar sacs -> fluid accumulation -> reduced oxygen exchange -> difficulty breathing
Pneumonia
62
Bronchial obstruction in individuals with hypersensitive or hyperresponsive airways
Asthma
63
Destruction of alveolar walls and septae due to breakdown of elastin
Associated with dificiency of Alpha 1 antitrypsin
Emphysema
64
Irreversible, progressive changes of the bronchi. mucosa inflamed and swollen, fibrosis and thickening of bronchial wall
Chronic Bronchitis
65
Permanent dilation of the medium sized bronchi caused by recurrent inflammation and infection
Bronchiectasis
66
Group of disorders with impaired lung expansion and reduced total lung capacity
Restrictive lung disorders
67
Inflammation leading to development of fibrosis (stiff lung) - loss of funcitonal areas of the lungs
Pneumoconioses
68
Fluid collection in alveoli and interstitial area. reduces amount of oxygen diffusing into blood and interferes with lung expansion
Plumonary edema
69
Blood clot obstructs pulmonary artery or its branch
Pulmonary Embolism
70
Nonaeration or collapse of lung or part of lung, alters both ventilation and perfusion
Atelectasis
71
Presence of excessive fluid in the pleural cavity causing increased pressure in pleural cavity
Pleural effusion
72
Air in pleural cavity leads to atelectasis
Pneumothorax
73
Injury to alveolar wall and capillary membrane resulting in release of chemical mediators
Acute respiratory distress syndrome
74
types of UTIs
Cystitis
| Pyelonephritis
75
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
Cystitis
76
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
Pyelonephritis
77
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
Glomerulonephritis
78
Secondary to other renal diseases leading to abnormal glomerular capillaries
o General edema
o Lipiduria
Nephrotic Syndrome
79
Primary tumor arising from the tubule epithelium
o Asymptomatic in early stages
o Painless hematuria (initial sign)
Renal Cell Carcinoma – Adenocarcinoma of Kidney
80
Tumor arising from epithelium of the bladder
o Hematuria
o Dysuria
o Infections
Bladder Cancer
81
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
Nephrosclerosis
82
Multiple cysts develop in both kidneys
o Enlargement of kidneys
o Compression and destruction of kidney tissue
Chronic renal failure
Adult Polycystic Kidney Disease
83
Difficulty swallowing
Dysphagia
84
Primarily squamous cell carcinoma Most common in distal esophagus
o Do not occur until later stages (poor prognosis)
o Significant dysphagia in later stages
Esophageal Cancer
85
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
Hiatal Hernia
86
Reflux of gastric contents into distal esophagus due to decreased competence of the cardiac sphincter
Causes erosion and inflammation
Gastroesophageal Reflux Disease (GERD)
87
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
Gastritis
88
Narrowing and obstruction of pyloric sphincter
o Projectile vomiting immediately after feeding
o Infant fails to gain weight
o Dehydration
o Persistent hunger
Pyloric Stenosis
89
inflammation of gallbladder and cystic duct
Cholecystitis
90
inflammation due to infection of bile ducts
Cholangitis
91
presence of gallstones
| Pain in right upper quadrant
Cholelithiasis
92
obstruction of the biliary tract by gallstones
Choledocholithiasis
93
increased level of bilirubin in the blood
Hyperbilirubinemea
94
unconjugated bilirubin elevated
| Result of excessive destruction of RBCs
Prehepatic Hyperbilirubinemea
95
both unconjugated and conjugated bilirubin may be elevated
| Occurs with disease or damage to hepatocytes
Intrahepatic Hyperbilirubinemea
96
conjugated bilirubin increased
| Caused by obstruction of bile flow into gallbladder or duodenum
Posthepatic Hyperbilirubinemea
97
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
Hepatitis
98
Progressive destruction of the liver – leads to liver failure when 80-90% of liver is destroyed
Cirrhosis
99
most common primary tumor of liver
Hepatocellular carcinoma
100
Inflammation of the pancreas resulting from autodigestion of the tissue
Acute Pancreatitis
101
Malabsorption syndrome – defect in intestinal enzyme prevents further digestion of gliadin
Celiac Disease
102
Inflammation and fibrosis of the small intestine, Obstruction of the lumen, Thick walls develop, Stimulation of intestinal motility
o Diarrhea
o Pain
Crohns Disease
103
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
Diverticulitis
104
Deficit of GH production/release
| Deficit of somatotropin-releasing hormone
Dwarfism
105
Excess growth hormone prior to puberty
Gigantism
106
Excess GH secretion in adults
| Bones become broader and heavier, soft tissues grow
Acromegaly
107
large volume of diluted urine
| No glucose in urine
Polyuria
108
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
Grave’s Disease (Hyperthyroidism)
109
Autoantibodies attack thyroid gland proteins inflammation of thyroid gland underperforms
Cold intolerance, Decreased appetite, Unexplained weight gain, Bradycardia, Lethargy, Fatigue
Hashimoto’s Thyroiditis (Hypothyroidism)
110
Non-pitting edema in face
| Thickened tongue
Myxedema (hypothyroidism)
111
Untreated congenital hypothyroidism
| Impaired growth and severe cognitive deficits
Cretinism (hypothyroidism)
112
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)
Cushing’s Syndrome
113
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
Addison’s Disease
114
Largest category of primary malignant tumors in brain
| Classified according to cell origin and location
Gliomas
115
tumors in meninges
Meningioma
116
tumors in pituitary gland
Adenoma
117
Temporary localized reduction of blood flow in the brain
o Vascular spasm
o Local loss of autoregulation
Possible warning sign before a stroke
Transient Ischemic Attacks
118
Infarction of brain tissue due to lack of blood
Ischemia – occlusion of a cerebral blood vessel
Hemorrhage – rupture of cerebral artery
Cerbrovascular Accidents
119
Localized dilation in the wall of an artery in brain (weakness in the wall)
• May rupture from a sudden increase in BP
Cerebral Aneurysms
120
Bacterial infection in the meninges of the CNS – infection spreads rapidly
Infection -> inflammation -> edema -> increased ICP
Meningitis
121
Localized infection resulting in necrosis of tissue and edema of the surrounding area in brain
Brain Abscess
122
Infection of parenchymal or connective tissue in the brain and spinal cord
Necrosis and inflammation develop
Encephalitis
123
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
Rabies (Hydrophobia)
124
Infection through a puncture wound by C. tetani
| Skeletal muscle spasms, Jaw stiffness, Difficulty swallowing, Stiff neck, Respiratory failure
Tetanus
125
Polio virus attacks motor neurons of the spinal cord and medulla
Fever, Headache, Vomiting, Stiff neck, Pain, Flaccid paralysis
Poliomyelitis (Infantile Paralysis)
126
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)
Multiple Sclerosis
127
• Progressive degenerative disorder – decreased number of dopamine secreting neurons in the Substantia Nigra
Parkinson’s Disease
128
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
Amyotrophic Lateral Sclerosis (ALS) – Lou Gehrig’s Disease
129
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
Myasthenia Gravis
130
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
Huntington’s Disease
131
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
Guillain-Barre Syndrome
132
Caused by varicella-zoster virus in adults
Infection usually effects one CN or one dermatome,
Pain, paresthesia, Lesions and pain persist for several weeks
Herpes Zoster – Shingles
133
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
Post-Polio Syndrome
134
Progressive chronic disease with decreased cortical function
Impaired cognitive skills, Impaired thinking, judgment, and learning, Memory loss, Confusion, Behavioral and personality changes
Dementia
135
Syndrome characterized by a tendency to experience recurrent seizures
Epilepsy
136
Decrease in bone mass and density
Bone resorption exceeds formation
Affects bones with higher proportion of cancellous bone
Osteoporosis
137
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
Rickets and Osteomalacia
138
Excessive bone destruction with replacement by fibrous tissue and abnormal bone
Complications: Compression fractures, Kyphosis
Paget’s Disease
139
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
Osteogenesis Imperfecta – Brittle Bone Disease
140
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
Legg-Calve-Perthes Disease
141
Infection of the bone -> inflammation -> spread of infection to adjacent tissues -> necrosis
Pain, Swelling, Redness, Warmth, Fever, Leukocytosis
Osteomyelitis
142
occurs in the metaphysis of long bones of the leg
| • Common in children, adolescents, and young adults
Osteosarcoma (most common)
143
occurs in the diaphysis of long bones of leg
| • Common in adolescents
Ewing’s Sarcoma
144
arise from cartilage cells
| • More common in adult > 30 y/o
Chondrosarcoma
145
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
Developmental Hip Dysplasia
146
Lateral curvature of the spine affecting the thoracic or lumbar area or both
Scoliosis
147
X-linked autosomal recessive disorder – mutation in the dystrophin gene
Connects the cytoskeleton of the muscle fiber to the surround extracellular matrix
Muscular Dystrophy
148
Limited ROM of neck, Headaches, Neck muscle tremors/spasms, Neck pain, Elevated shoulder, High tone in neck muscle, Swelling of the neck muscles
Torticollis
149
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)
Volkmann’s Ischemic Dontracture
150
• 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
Osteoarthritis
151
Chronic systemic inflammatory disease – autoimmune
| Inflammation of synovial membrane red, swollen painful joints
Rheumatoid Arthritis
152
Inflammation and cartilage damage resulting from deposits of uric acid and crystals in the joint
Often affects the big toe
Gout
153
Chronic progressive inflammatory condition affecting the SI joint, costovertebral joints, and intervertebral spaces
Ankylosis – joint fixation
Spondylitis – inflammation of a spinal joint
Ankylosing Spondylitis
154
CAUTION
```
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
```
