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Term 1 MD > CPR Exam #1 Diseases > Flashcards

CPR Exam #1 Diseases Flashcards

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1
Q

Amytrophic Lateral Sclerosis

A

Deficiency of superoxide dismutase, leading to excess oxidative damage and death of upper and lower motor neurons. This is only 10% of ALS cases. 90% of cases are idiopathic.

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2
Q

Chronic Granulomatous Disease

A

Hereditary NADPH oxidase deficiency. Leads to less production of ROS, RNOS, and HOCL. Mostly diagnosed before age 5. X-linked recessive pattern.

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3
Q

Myeloperoxidase Deficiency

A

Hereditary deficiency of myeloperoxidase, leading to decreased production of HOCL (bleach) which kills fungal pathogens.

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4
Q

Glucose 6-phosphate Dehydrogenase Deficiency

A

X-linked recessive inheritance pattern. Abnormally low levels of Glucose 6-phosphate dehydrogenase. This predisposes RBCs to oxidative damage due to no glutathione.

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5
Q

Peripheral Vascular Disease

A

Usually caused by atherosclerosis, leading to infarction of peripheral tissues. Common with uncontrolled diabetes.

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6
Q

Cerebrovascular Disease

A

Cardiovascular disease. Includes stroke, transient ischemic attack, and dementia.

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7
Q

Coronary Heart Disease

A

Cardiovascular disease. Includes angina, myocardial infarction, sudden death, and heart failure.

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8
Q

Hypertension

A

Blood pressure high than 120/80 consistently over a period of time. Can cause damage to smaller blood vessels by scarring, hardening, and narrowing of blood vessels.

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9
Q

Atherosclerosis

A

When LDL levels are high, it spontaneously oxidizes and can’t be uptaken by tissues. Macrophages migrate to their location engulf them, die, and settle into fibrofatty plaques called atheromas. Atheromas then begin to occlude vessels.

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10
Q

Marfan Syndrome

A

Autosomal dominant inheritance pattern. Fibrillin-1 gene defect-Dominant negative mutation. Leads to weakened tunica media, which can cause aortic aneurysm/dissection.

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11
Q

Aortic Aneurysm

A

Weakening of the tunica media of the aorta from prolonged stress, causing a local expansion in a weak spot in the aorta. Can rupture, causing massive internal hemorrhage and death.

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12
Q

Aortic Dissection

A

Association with hypertension. A laceration of the tunica intima leads to tracking of blood into the tunica media, causing a high pressure hematoma to form which frequently bursts through the tunica adventitia, causing massive hemorrhage.

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13
Q

Cerebral Aneurysm

A

Aneurysm that presents in the vasculature of the cerebrum, often occurring in the vascular of cerebrum, often occuring in the circle of willis.

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14
Q

Varicose Veins

A

Increased intraluminal pressure leads to chronic vasodilation of superficial veins, in conjunction with damaged valves. Loss of vessel wall support may contribute

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15
Q

Lymphedema

A

Fluid accumulation in the lymphatic system due to obstruction from trauma, surgery, radiation, inflammation, parasites, etc.

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16
Q

Bernard-Soulier Syndrome

A

Inherited defect in GP1b of platelets, resulting in inhibited platelet aggregation, as GPIB is not present to present to bind vWF, which helps stabilize platelets on exposed subendothelial collagen.

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17
Q

Von Willebrand Disease

A

Deficiency of von Willebrand Factor, which is needed for the anchoring of platelets via GP1B to subendothelial collagen.

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18
Q

Glanzman Thrombasthenia

A

Deficiency of von Willebrand Factor, which is needed for the anchoring of platelets via GPIB to subendothelial collagen.

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19
Q

Hemophilia A

A

Deficiency of Factor VIII, causing a defect in the intrinsic coagulation pathway. X-linked recessive inheritance.

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20
Q

Hemophilia B

A

Deficiency of Factor IX, causing a defect in the intrinsic coagulation pathway. X-linked recessive inheritance.

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21
Q

Thrombocytopenia

A

Low platelet count. Technically, it’s a symptom, not a disorder.

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22
Q

Pericarditis

A

Inflammation of the pericardium.

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23
Q

Congestive Heart Failure

A

Inability to maintain blood circulation. Various causes.

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24
Q

Cardiac Tamponade

A

Pericardial effusion, usually of blood, that compresses the heart. Most common causes are MI and stab wound.

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25
Dextrocardia Situs Inversus
L-loop forms, instead of D-loop, positioning the heart to the right instead of the left.
26
Complete Situs Inversus
All thoracic and abdominal viscera are flipped over the line of symmetry. Kartagener Syndrome is classic example.
27
Ectopia Cordis
Pericardium and heart are exposed through a congenital defect in the chest wall, due to failure of the lateral walls to fuse in week 4.
28
ASD: Probe Patent Foramen Ovale
Incomplete fusion between septum primum and septum secundum leaves an opening on superior end of foramen ovale
29
ASD: Endocardial Cushion Defect
Foramen primum doesn't close, leaving an open defect near the endocardial cushion. Most inferior ASD.
30
ASD: Secundum Type
Abnormally large foramen secundum, due to a short septum secundum or excessive resorption of the septum primum.
31
ASD: Sinus Venosus Type
Sinus venosus is not absorbed or incompletely resorbed into the right atrium. Can also be caused by abnormal development of the upper part of the septum secundum.
32
Membranous Ventricular Septum Defect
Failure of endocardial cushion tissue to fuse with the primordial IV septum and the bulbar septum.
33
Patent Ductus Arteriosus
Ductus arteriosus does not close and degenerate at birth , causing a left-to-right shunting of blood. Associated with premature birth, high altitude, hypoxia, and low birth weight.
34
Tetralogy of Fallot
Faulty migration of neural crest cells causing 4 problems: ventricular septum defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta.
35
Transposition of Great Vessels
Switching of the aorta and the pulmonary trunk. Caused by faulty migration of neural crest cells, leading to the absence of the spiral-twist in the aorticopulmonary septum.
36
Persistent Truncus Arteriosus
Failure of neural crest cell migration, leading to no formation of the aorticopulmonary septum
37
Double Aortic Arch
Due to the persistence of the distal portion of the right dorsal aorta. Right arch is usually larger. Super rare.
38
Right Arch of Aorta
Due to the persistence of the right dorsal aorta, while the distal part of the left dorsal aorta involutes.
39
DiGeorge Syndrome
Caused by a microdeletion of 22q11.2 leading to issues in formation of 1st pharyngeal arch and 3rd and 4th pharyngeal pouches. Autosomal dominant. Most cases are de novo.
40
Treacher Collins Syndrome (Mandibulofacial Dysostosis)
Caused by mutation in the TC0F1 gene, leading to a failure of neural crest cell migration due to insufficient production of neural crest cells.
41
Anomalous Right Subclavian Artery
Can be caused by either abnormal involution of the right 4th pharyngeal artery or the right dorsal aorta cranial to 7th segmental artery, or the right dorsal aorta cranial to 7th segmental artery, a persistent distal part of the right dorsal artery, or differential growth shifting right subclavian artery cranially.
42
Coarctation of the Aorta
Thickening of the walls of the aorta causing a ring-like constriction. Cause is still unknown.
43
Persistent Pulmonary Hypertension
Occurs when pulmonary vascular resistance remains abnormally high after birth. Thus, right-to-left shunting of blood through fetal circulatory pathways continues.
44
Tangier Disease
Hereditary deficiency of HDL-C and apoA1, caused by a defective cholesterol ABC transporter (ABCA1)
45
Abetalipoproteinemia
Extremely low levels of chylomicrons, VLDL, and LDL, caused by deficiency of MTP.
46
Type I: Familial Hyperchylomicronemia
High chylomicron levels after an overnight fast. Caused by deficiency of Lipoprotein Lipase, ApoCII, or too much LPL inhibitor protein.
47
Type IIa: Familial Hypercholesterolemia
Common disease characterized by high LDL levels. Caused by defective LDL receptor. Autosomal dominant.
48
Type IIb: Familial Combined Hyperlipidemia
Common disease characterized by high LDL and VLDL levels. Could result from overproduction of ApoB100 or VLDL or defective LDL clearance.
49
Type III: Dysbetalipoproteinemia
Rare disease characterized by high remnant levels, high IDL, and abnormal beta-VLDL. Caused by ApoE deficiency.
50
Type IV: Familial Mixed Hypertriacylglycerolemia
Common disease characterized by high VLDL. Caused by a specific LPL deficiency or from overproduction of VLDL.
51
Type V: Familial Mixed Hypertriacylglycerolemia
Characterized by high chylomicron and VLDL levels. Caused by similar factors to types I and IV.
52
Polycythemia
Too many RBC in blood smear. Leukemia can cause.
53
Anisocytosis
Blood abnormality where RBCs are of unequal sizes. Can signify conditions such as anemia or thalassemia.
54
Poikilocytosis
Refers to the presence of poikilocytes in the blood, which are red blood cells of distorted shape.
55
Iron-Deficiency Anemia
Decrease in hemoglobin concentration in blood
56
Pernicious Anemia
Due to deficiency of B12 or intrinsic Factor. Can be caused by gastrectomy or decreased parietal cells.
57
Thalassemia
Anemia resulting from decreased alpha or beta hemoglobin chains. Need 2 of each to form hemoglobin tetramer. Excess of one chain binds to membranes, causing damage and aggregation.
58
Sickle Cell Anemia
Autosomal recessive inheritance pattern. Caused by a mutation in beta-globin gene. Missense mutation, E to V.
59
Hereditary spherocytosis
Autosomal dominant abnormality of erythrocytes. Results from defective spectrin, Band 3 or protein 4.1, with a subsequent loss in the biconcave structure of RBCs.
60
Idiopathic Thrombocytopenic Purpura
Unknown cause (hence, idiopathic).
61
Suppurative/Purulent Inflammation
Inflamed region containing pus. Caused by pyogenic bacteria (streptococci, staphylococci).
62
Fibrinous Inflammation
Inflamed region where exudate contains abundant fibrin. Usually associated with serous membrane-lined cavities.
63
Serous Inflammation
Inflamed region accumulates fluid with low plasma protein and cell content (called Transudate)
64
Abscess Formation
Acute inflammatory response fails to destroy/remove the cause of tissue damage and chronic inflammatory component walls off the area, laying down fibrous tissue.
65
Chronic Inflammation
Occurs after acute inflammation when injurious agent persists over a prolonged period. Infiltration of lymphocytes, etc.
66
Granuloma
Organized collection of macrophages that form when the immune system is unable to eliminate a foreign substance.
67
Wolf-Parkinson-White Syndrome
Caused by the presence of of abnormal conduction pathway in the heart, known as the Bundle of Kent
68
Bradycardia in Athletes
Caused by endurance training in athletes, where funny channels reduce in number, reducing SA node firing and, thus, heart rate.
69
1st degree AV block
Slowed conduction beyond the AV node. Not pathological.
70
2nd Degree AV Block; Mobitz Type I
PR interval gradually increases until the AV node fails completely, and no QRS wave is seen.
71
2nd Degree AV Block: Bundle Branch Blocks
Occurs when heart rate rises above a critical level. The conduction system fails and there is inadequate time for repolarization. Impulse spreads slowly through ventricles.
72
Complete Conduction Block
No impulse goes through the AV node. Atria and ventricles are electrically isolated, thus Perkinje fibers initiate ventricular contraction.
73
Atrial Fibrillation
Circular electrical depolarization in the atria. Well-tolerated as atrial contraction only contributes 10-20% of EDV.
74
Ventricular Fibrillation
No coordinated ventricular contraction, due to circular depolarization in the ventricles.
75
Aortic Stenosis
Stiffening of aortic valve where increased pressure is needed to overcome the stiffening and open the valve.
76
Aortic Regurgitation
Aortic valve doesn't close completely at end of systole, causing a regurgitation of blood from the aorta back into the left ventricle.
77
Mitral Stenosis
Stiffening of the mitral valve, where increased left atrial pressure is needed to overcome the stiffening and open the valve.
78
Mitral Regurgitation
Mitral valve doesn't close completely during systole, causing regurgitation of the blood black into the left atria.
79
Grave's Disease (Toxic Diffuse Goiter)
Autoimmune disease against the thyroid. The immune system produces thyroid-stimulating IG's, which bind to the thyrotropin receptor, stimulating T4 and T3 oversecretion.
80
Right Ventricular Failure
Failure of the right ventricle to pump blood to lungs.
81
Left Ventricular Failure
Failure of the left ventricle to pump blood to periphery.
82
Hypoalbuminemia
Low plasma albumin levels. Can be caused by liver dysfunction, increased clearance, and pregnancy.
83
Angina Pectoris
Chest pain caused by poor blood flow to the heart, usually from atherosclerosis, that causes ischemia when O2 need surpasses O2 supply.
84
Thrombosis
Build up of atherosclerotic plaques, forming thrombi. This creates fatty streaks that can occlude blood flow.
85
Primary Benign Hypertension
Most common form. Slowly progresses. Idiopathic.
86
Primary Malignant Hypertension
Rarer. Rapidly progressive and can quickly induce heart failure, edema, cerebral damage, and/or renal damage.
87
Secondary Hypertension
Identifiable cause! Such as renal artery stenosis, renal disease, Conn's Syndrome, Pheochromocytoma, Pre-eclampsia toxemia, Hyperthyroidism, and Cushing's Disease/Syndrome
88
Complications of Hypertension
Caused by primary or secondary hypertension.
89
Syncope
Sudden, transient loss of consciousness due to a fall in blood pressure, resulting in reduced cerebral perfusion.
90
Hypovolemic Shock
Large decrease in blood volume due to hemorrhage, diarrhea, and/or vomiting.
91
Cardiogenic Shock
Failure of the heart to pump, due to myocardial infarction or arrhythmia.
92
Obstructive Shock
Obstruction of blood flow due to major pulmonary embolism, cardiac tamponade, or tension pneumothorax.
93
Septic Shock
Massive drop in TPR due to bacterial/viral endotoxins.
94
Anaphylactic Shock
Massive drop in TPR due to histamine release in allergic rxn.
95
Neurogenic Shock
Disruption of neurogenic vasomotor control, due major brain or spinal cord injury.
96
Decompensated Shock
Loss of greater than 30% of blood volume with no fluid replacement, resulting in circulatory collapse.
97
Respiratory Distress Syndrome (Hyaline Membrane Disease)
Usually caused by surfactant deficiency in neonate, causing lungs to collapse on themselves.
98
Tracheoesophageal Fistula
Caused by defective development of the tracheoesophageal septum, causing the esophagus to connect to the trachea.
99
Esophageal Atresia
Same cause as tracheoesophageal fistula, except the esophagus is blunt-ended and doesn't connect to the stomach.
100
Thoracic Outlet Syndrome
Scalenes in neck or cervical rib compresses vessels and nerves passing between the thorax and axilla.
101
Complete Pneumothorax
Air in the pleural cavity compresses the lungs.
102
Asthma
Widespread constriction of smooth muscles in the bronchioles, causing decrease in their diameter.
103
COPD: Chronic Bronchitis
3 months of chronic cough in a row, repeated over 2 years.
104
COPD: Emphysema
Persistent smoking elevates neutrophils and elastase levels. This leads to destruction of elastic fibers and the permanent dilation of alveoli. Alveoli no longer stretch.
105
Cystic Fibrosis
Autosomal recessive inheritance pattern. CFTR mutation. Exhibits allelic heterogeneity and variable expression.
106
Herpes Zoster
Varicella zoster virus dormant in one or two dorsal rami reactivates due to stress or other factors, causing rash.
107
Polythelia
Extra nipples. More common in males.
108
Polymastia
Ectopic, fully-functional mammary glands.
109
Gynecomastia
Development of mammary gland tissue in males.
110
Flail Chest
When anterior pressure is applied to the ribs (like hitting the steering wheel), ribs may fracture in more than one place. This causes the segment to become loose from the rest of the chest wall. The fractured segments then move in the opposite direction of the chest when breathing.
111
Open (Sucking) Pneuomothorax
Air moves in and out of thorax on breathing, causing the mediastinum to move back and forth. This can kink vessels.
112
Tension Penuomothorax
Air can move into the chest cavity on inspiration, but it cannot move out on expiration (valve-like). Pressure builds up and gets trapped, causing greater shift of mediastinum! Severe!
113
Pleurisy/Pleuritis
Inflammation of the pleura. The inflamed pleural layer rub against each other every time the lungs expand to inhale air. Pleural rub (scratching) sounds are heard. Opaque on X-ray
114
Restrictive Lung Disease: Pulmonary Fibrosis
Excess buildup of connective tissue in the lungs

Term 1 MD (54 decks)

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