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QB - DISEASES2 Flashcards

1
Q

Deficiency in pyridoxine

A

Pyridoxine required as cofactor for 1st step in heme synthesis

Decreased heme synthesis –> microcytic, hypochromic pyridoxine-responsive anemia (sideroblastic anemia)

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2
Q

Alveolar cells containing golden cytoplasmic granules –> dark w/ Prussian blue staining; what is pathology?

A

Prussian blue stains for IRON

Pt. has “heart failure cells” - macrophages that have engulfed a lot of RBCs in pulmonary circulation (due to pulmonary congestion/edema secondary to chronic LEFT heart failure)

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3
Q

Turner’s syndrome: levels of FSH/LH?

A

Elevated LH and FSH – no negative feedback due to ovarian failure (no breast development, no menarche)

Small chance that some women can have spontaneous puberty –> possibility for pregnancy

Most can only become pregnant w/ donor oocytes - will need supplemental estrogen/progesterone to prepare and maintain uterine lining

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4
Q

Fibroadenoma

A

most common benign tumor of breast
occur in multiples, in both breasts
increase in size during luteal phase of menstrual cycle/lactation
freely moveable, palpable mass (young)

cellular, myxoid stroma that encircles epithelium-lined glandular and cystic spaces

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5
Q

Ductal carcinoma in situ (DCIS)

A

precancerous breast lesion
malignant clonal cell proliferation (contained by surrounding ductal BM)
Myopethelial (basal) layer preserved/uninvolved

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6
Q

Paget disease of nipple

A

Malignant cells spread from superficial DCIS into nipple skin (does not cross BM)

unilateral erythema and scale crust around nipple

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7
Q

Sclerosing adenosis

A

Central acinar compression/distortion (by surrounding fibrotic tissue) and peripheral ductal dilation

common finding in fibrocystic change

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8
Q

Mammary duct ectasia

A

Ductal dilation, inspissated breast secretions

Chronic granulomatous inflammation in periductal and interstitial areas

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9
Q

Medullary carcinoma

A

Solid sheets of vesicular, pleomorphic, mitotically active cells w/ significant lymphoplasmacytic infiltrate around/within tumor – pushing, noninfiltrating border

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10
Q

Temporal arteritis

A

Inflammation in MEDIUM-sized and LARGE arteries – mononuclear infiltrates & multinucleated giant cells = “giant cell vasculitis”

Granulomas in media of arteries

Narrowing of vessel –> decrease in blood supply to perfused areas:
1) headache
2) craniofacial pain (jaw & tongue claudication) – while chewing
3) polymyalgia rehumatica – neck, torso, shoulder, pelvic girdle pain & morning stiffness; fever, fatigue, weight loss may also occur
4) sudden vision loss (monocular)

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11
Q

Reversal treatment for ingestion of rat poison

A

Pts. susceptible to GI bleeding (no coagulation factors)

Give fresh frozen plasma and vitamin K1

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12
Q

Hamartoma

A

Excessive growth of tissue type native to organ of involvement

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13
Q

Most common benign lung tumor

A

Hamartoma (pulmonary chondroma)
“coin lesion” in pts. 50-60yrs old

Incidental finding on CXR – “popcorn calcifications”

contain islands of mature hyaline cartilage, fat, smooth muscle & clefts lined by respiratory epithelium

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14
Q

Type of lung cancer w/ neuroendocrine markers

A

Small cell carcinoma of the lung

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15
Q

Keratin pearls characteristic of what type of malignancy?

A

Squamous cell carcinoma

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16
Q

Membranous GN

A

Nephrotic

Generalized edema
Heavy proteinuria (>3.5g/day)
Hypoalbuminemia
Hyperlipidemia

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17
Q

IgA nephropathy (Berger disease)

A

Children/young adults
Painless hematuria
2-3 days after upper respiratory infection

(contrast w/ Post-STREP GN which occurs 2-3 weeks after upper respiratory or skin infection; anti-streptolysin O antibody; low C3 levels)

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18
Q

Squamous cell carcinomas of bladder

A

RARE
Associated w/ Schistosoma haematobium infection

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19
Q

Urothelial carcinoma

A

Formerly transitional cell carcinoma
makes up 90% of bladder cancers

Painless gross hematuria
Tumor penetration of bladder wall = major prognostic indicator
(carcinoma in situ - confined to epithelium)

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20
Q

Vitelline duct connects what two structures; when it it obliterated? What condition results if duct persists?

A

Midgut lumen w/ yolk sac;
Obliterates 7th week

Persistence of vitelline duct = connection between intestinal lumen + umbilicus

Meckel diverticulum most common vitelline duct anomaly: partial closure of vitelline duct –> patent portion attached to ileum (fibrous band may connect tip of Meckel’s diverticulum w/ umbilicus) – can present w/ rectal bleeding/intestinal obstruction

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21
Q

Umbilical hernia

A

Weakness of abdominal wall at umbilicus - midline protrusions covered by skin

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22
Q

Omphalocele

A

Midline defect in abdominal wall - incomplete closure – abdominal organs protrude through defect covered w/ peritoneal sac

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23
Q

Facor XIII deficiency

A

clot instability –> delayed, recurrent bleeding after trauma

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24
Q

Protein C acts w/ Protein S to inactivate what factors?

A

Factor V and factor VIII

Inability to inhibit Factor V and VIII –> procoagulation state
Factor V Leiden mutation –> procoagulation (bc factor V can’t be inactivated)

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25
Factor X activates thrombin; what does thrombin activate?
Thrombin activates factor V, VIII, and XI
26
ALS is combined UMN and LMN lesions: what structures involved?
Loss of neurons in anterior horn (LMN) - muscle weakness & atrophy Degeneration/atrophy of lateral corticospinal tracts (UMN) - spasticity & hyperreflexia
27
Treatment of ALS
Riluzole MOA: decreases glutamate release
28
What structures are damaged in poliomyelitis?
Enteroviral infection damages motor neurons in anterior horn --> LMN disease Flaccid paralysis, atrophy, areflexia, fasciculation
29
Huntington disease; what structures are damaged?
Caudate nucleus + putamen
30
Symptoms of Friedrich ataxia
AR disorder -- children 5-15yrs old Ataxia hypertrophic cardiomyopathy kyphoscoliosis foot abdnormalities diabetes mellitus
31
Pathogenesis of Vitamin B12
Subacute combined degeneration of: posterior & lateral spinal columns
32
Tumor staging vs. grading
Stage - TNM system (tumor size, nodal involvement, metastasis) Grade - differentiation (high = high cellularity, nuclear peomorphism, poorly differentiated)
33
Tumor with high bromodeoxyuridine uptake; what does this indicate?
Bromodeoxyuridine = thymidine analog Thymidine = nucleotide High nucleotide uptake occurs in S phase (cells ready to divide) Tumor that has high thymidine uptake = high grade tumor & poor prognosis
34
Older female, weight loss, abdominal discomfort, jaundice, epigastric mass; what GI association?
Pancreatic cancer
35
Low pitched holosystolic murmur heard best at left sternal border; accentuation w/ handgrip exercise; what is defect and why is it heard better w/ maneuver?
VSD handgrip maneuver --> increases afterload (pressure in systemic circulation that LV & aorta have to pump against) increased afterload (pressure) causes more blood to be shunted from LV to RV (lower pressure system) so the murmur is heard louder
36
Early diastolic murmur heard better with handgrip exercise?
Aortic regurgitation
37
Mid-systolic pulmonary ejection murmur
due to increased flow across pulmonic valve
38
Incomplete obliteration of processus vaginalis = connection btwn peritoneum & scrotum; what are 2 conditions that can occur from this connection?
Hydrocele (fluid leakage) Indirect inguinal hernia (abdominal contents herniate down)
39
Enzyme missing in albinism
Tyrosinase (uses tyrosine as substrate for melanin)
40
Enzyme missing in alkatonuria
Homogentisic acid oxidase Accumulation of homogentisic acid in body that needs to be renally excreted
41
Gene mutations associated w/ Alzheimer's
APP (chromosome 21) presenilin 1 & 2 apoE4 APP & presenilin mutations promote AB-amyloid formation
42
Familial hypercholesterolemia
AD disorder LDL receptor mutations -- liver can't take up LDL --> severe elevation in total cholesterol
43
Hypertrophic cardiomyopathy mutation
AD trait mutation in B-myosin heavy chain
44
Renal artery stenosis often caused by atherosclerosis; what cells undergo hyperplasia/hypertrophy? Why?
JG cells: renal artery stenosis cause hypoperfusion --> renin production increased in order to prodce more ATII --> vasoconstriction & aldosterone release (JG cells are modified smooth m. cells in afferent & efferent arterioles) Macula densa cells - distal tubule: sense osmolarity/volume of urine --> transmit back to JG cells
45
Damage to common peroneal n. -- what structure is involved?
Fibular head -- occurs from lateral blows to knee/leg cast Pain/numbness of dorsum of foot Weakness in dorsiflexion of foot (foot drop) Weakness in eversion of foot
46
Deep peroneal n. (action)
Sensory to region btwn 1st and 2nd digits Anterior compartment of leg (dorsiflexors of foot and toes) -- in conjuction w/ common peroneal n.
47
Tibial n. (action)
Plantar flexion & inversion of foot
48
Important structures coursing near medial malleolus
Anteriorly: Saphenous n. Great saphenous vein Posteriorly: Posterior tibial a. Tibial n. Tendons of: flexor digitorum longus flexor hallucis longus tibialis posterior
49
What type of gating does CFTR gene have?
ATP-gated F508 mutation chromosome 7 CFTR hydraes mucosal surfaces; promotes secretion from ducts of exocrine pancrease; hypotonic sweat Transport through eccrine ducts --> salt removed from ductal lumen (hence chloride sweat test to detect elevated levels of salts)
50
Where does cGMP-gated Na+ channels play a role?
Vision
51
Persistent allantois remnant; what clinical features present?
Urine discharge from umbilicus Allantois --> urachus (duct btwn bladder and urogenital sinus) Failure of urachus to obliterate: 1) patent urachus -- urine from umbilicus 2) vesicourachal diverticulum 3) urachal sinus (purulent discharge from umbilicus) 4) urachal cyst
52
Physical manifestations of 47, XXX
Silent - normal females some slightly decreased IQ scores
53
Physical manifestations of 47, XXY
Tall male gynecomastia, small testes, infertility Klinefelter syndrome
54
Physical manifestations of 47, XYY
Tall, severe acne Delay in motor & language development
55
Calcitriol
Active form of vitamin D converted in the KIDNEYS from 25-hydroxycholecalciferol
56
Actions of calcitriol
Increase Ca2+ & phosphate absorption
57
Chronic renal failure: what happens to PTH, Ca2+, phosphate, calcitriol?
Chronic renal failure = due to secondary hyperparathyroidism (high PTH) Decreased renal parenchyma --> decreased calcitriol production Lab values: high PTH low Ca2+ high phosphate low calcitriol
58
Why does Ca2+ levels decrease in chronic renal failure?
Decrease excretion of phosphate --> phosphate binds Ca2+ to form complexes --> less free Ca2+
59
What two values always counteract each other in renal disease?
PTH and phosphate High phosphate (lack of renal excretion) --> low Ca2+ --> elevate PTH
60
Conn's syndrome
primary hyperaldosteronism (zona glomerulosa hyperplasia) primary adrenal hyperplasia renal Na+ retention excess K+ secretion results in HTN and hypokalemia Hypokalemia (muscle weakness); parethesias
61
Weight gain + easy bruising; what adrenal condition?
Cushing's syndrome Glucocorticoid excess Inhibited collagen and matrix GAG synthesis --> weaker skin/CT --> easy bruising Zona fasiculata
62
Hirsutism (excessive hair growth); what adrenal condition?
Androgen excess - adrenal tumor causing androgen hypersecretion zona reticularis
63
Diarrhea & flushing; what condition association?
Carcinoid syndrome Serotonin(5-HT)-secreting tumor derived from neuroendocrine cells of GI tract
64
Chronic myeloproliferative disorders (4)
CML - leukocytosis w/ marked left shift Essential thrombocytosis - thrombocytosis Polycythemia vera - erythrocytosis Primary myelofibrosis - bone marrow fibrosis
65
Mutation in myeloproliferative disorders (except for CML): primary myelofibrosis, essential thrombocytois, essential thrombocytosis
JAK2 - tyrosine kinase (phosphorylation) JAK2 causes persistent activation of STAT (signal transducers & activator of transcription)
66
Primary myelofibrosis
atypical megakaryocytic hyperplasia clonally expanded megakaryocytes activate fibroblast proliferation --> replacement of marrow space with collagen --> pancytopenia peripheral smear: teardrop-shaped RBCs and nucleated RBCs
67
Why is there hepatomegaly and splenomegaly in myelofibrosis?
Loss of bone marrow hematopoiesis --> extramedullary hematopoiesis
68
Alcoholic is brought into hospital and stated on IV fluids + dextrose; develops ataxia, confusion, ophthalmoplegia. What enzyme is deficient in this patient's TCA cycle?
a-ketoglutarate dehydrogenase cofactors (5): Thiamine (deficient in alcoholics) Lipoic acid CoA FAD NAD+ conversion from a-ketoglutarate to succinyl-CoA
69
Presence of unilateral fetal hydronephrosis --> what structure is possibly affected?
Ureteropelvic junction (junction btwn kidney & ureters) -- last to canalize in fetal development Transient hydronephrosis due to metanephros producing urine before canalization of ureteric bud is complete
70
Origin of ureteric bud?
Metanephros
71
Origin of collecting ducts, calices, renal pelvis, ureters, renal parenchyma?
Metanephros
72
Most common cause of bacterial meningitis in adults of all ages?
Streptococcus pneumoniae Lancet-shaped, Gram+ cocci in pairs Increase neutrophils, decrease glucose, increase opening pressure Pt. w/ confusion, severe headache, nausea, nuchal rigidity
73
Pt. with Parkinsons complains of "freezing up" moments followed by episodes of not experiencing any rigidity; why?
Drug response is UNPREDICTABLE and NOT dose-dependent "On-off"phenomenon: Sudden loss of anti-Parkinsonian effects of levodopa (L-dopa) --> hypokinesis and rigidity; other times, levodopa works.
74
What kind of pathology is associated w/ elevated conjugated bilirubin?
Hepatobiliary disease (cirrhosis or hepatitis) -- bilirubin conjugates will reflux back to plasma when secretion of bilirubin into bile is slow
75
What kind of pathology is associated w/ elevated Unconjugated bilirubin?
Increased bilirubin formation (hemolysis) Slowing in bilirubin conjugation (Gilbert syndrome)
76
Gilbert syndrome
UDP glucuronyl transferases decreased Bilirubin glucoronidation decreased
77
What is the association btwn Wilson's disease and the liver?
Pt. younger than 30 yrs w/ unexplained chronic hepatitis (elevated AST and ALT) Presence of ceruplasmin & urinary copper excretion Kayser-Fleischer rings
78
Superior mesenteric artery syndrome; what are predisposing factors? At what level does SMA leave aorta?
Transverse portion of duodenum gets entrapped btwn SMA and aorta --> partial intestinal obstruction Predisposing factors: Aortomesenteric angle decreased Diminished mesenteric fat Pronounced lordosis Surgical correction of scoliosis
79
What malignancies is Down syndrome associated w/?
AML ALL early Alzheimer
80
Cause of Cushing's syndrome: ACTH dependent vs ACTH independent
ACTH dependent: a) Cushing's disease - pituitary ACTH hypersecretion b) Ectopic ACTH syndrome - paraneoplastic ACTH secretion ACTH independent: a) adrenal adenoma or carcinoma
81
Embryonic aortic arch that ductus arteriosus derives from
6th
82
Patent ductus arteriosus; what to keep it open; what to close it?
PGE2 = maintain patency Indomethacin = close PDA (usually ductus arteriosus closes after birth when partial pressures of O2 increase and PGE2 decrease) "Machinery-like" continuous murmur, bounding pulse with thrill palpated over upper left sternal edge After closure, known as ligamentum arteriosum
83
How is gastric acid secretion by parietal cells in mucosal glands (fundus & body of stomach) stimulated?
1) Histamine --> H2 receptors --> increase intracellular cAMP 2) Acetylcholine --> M3 muscarinic receptors --> increase intracellular Ca2+ 3) Gastrin --> gastrin receptor: -- increase intracellular Ca2+ concentration -- histamine synthesis & release by ECL (enterochromaffin-like cells) in stomach***
84
What action does increased intracellular Ca2+ and cAMP have on gastric acid secretion?
Ca2+ increase (activates things) cAMP activate protein kinases BOTH lead to increased transport of H+ by H+K+ ATPase into gastric lumen
85
Systemic mastocytosis (symptoms)
Mast cell proliferation --> increased histamine release --> gastric acid secretion increases Gastric hypersecretion: Inactivates pancreatic & intestinal enzymes --> diarrhea Gastric ulcerations Increase mast cells: Syncope Flushing Hypotension --> Tachycardia Bronchospasm Pruritis, urticaria, dermatographism
86
Pernicious anemia
Autoantibody to parietal cells/intrinsic factor IF not produced --> vit. B12 not absorbed --> neurologic symptoms
87
Substances that pancreatic tumors secrete:
1) Gastrin: ZE syndrome 2) Insulin: fasting hypoglycemia 3) Glucagon: diabetes mellitus & RASH* 4) Somatostatin: diarrhea, cholelithiasis, diabetes mellitus
88
Opening snap (extra heart sound) shortly after S2 heart sound (AV close); Diastolic rumbling murmur after opening snap best heard at heart apex
Mitral stenosis Diastolic rumbling murmur due to turbulent flow through stenottic mitral valve during LV filling Extra heart sound (opening snap) due to abrupt halting of leaflet motion during mitral valve opening due to fusion of mitral valve leaflet tips
89
Congenital torticollis
2-4 weeks old Child prefers to hold head tilted to one side (cries when you try to move child's nexk; could present w/ firm swelling in neck) Due to malposition of head in utero or birth trauma (breech delivery) --> SCM m. injury & fibrosis
90
What can bind to antithrombin? What does antithrombin do?
Unfractioned heparin and LMWH bind antithrombin --> antithrombin activity against Factor Xa Unfractioned heparin able to bind to both antithrombin & thrombin --> allow antithrombin to inactivate thrombin
91
Enoxaparin
LMWH
92
Fondaparinux
Synthetic pentasaccharide factor Xa inhibitor
93
Relationship of ureters w/ common/external iliac vessels and gonadal vessels?
Ureters: course on TOP of psoas muscle cross OVER common/external iliac vessels cross UNDER gonadal vessels (ovarian vessels in females) - "water under the bridge" enter true pelvis: pass LATERAL to internal iliac vessels pass MEDIAL to gonadal vessels as they enter true pelvis
94
Ventromedial nucleus of hypotahalmus destroyed
Person eats more and becomes obese (ventromedial nucleus responsible for satiety)
95
Lateral nucleus of hypothalamus destroyed
Person starves (lateral nuclei responsible for hunger)
96
Supraoptic and paraventricular nuclei destroyed
No release of ADH or oxytocin (later carried down to neurohypophysis)
97
Anterior hypothalamic nuclei vs. posterior hypothalamic nuclei in relation to heat production
Anterior hypothalamic nuclei = vasodilation & sweating = COOL Posterior hypothalamic nuclei = conserve heat, heat production = HOT
98
What morphological change occurs in vessels in primary pulmonary HTN? What causes it?
Increase thickness of smooth muscles in arterioles (medial hypertrophy); fibrosis of intima Inherited disease Decreased apoptosis of endothelial and smooth muscles cells in pulmonary aa Presents in women; dyspnea and exercise intolerance
99
Rx for primary pulmonary HTN
Bosentan - endothelin-receptor antagonist (endothelin vasoconstricts and stimulates endothelial proliferation) -- blocking of endothelin --> decrease pulmonary arterial pressure (lessen RV hypertrophy)
100
Pt. w/ chronic aortic stenosis (AS) experiences a. fib; what symptoms exacerbated? What could happen to venous pressures?
Reduced ventricular preload --> CO decrease --> dangerous systemic hypotension Acute a. fib can also increase steady state pulmonary venous pressures sufficiently to cause acute pulmonary edema
101
Hyperpyrexia (temp?); what should be done first?
Greater than 40C Can lead to permanent brain damage Give acetaminophen to kids (inhibits COX in CNS, decrease PGE synthesis); avoid ASA due to Reye syndrome
102
Bacterial LPS can stimulate high fevers; what substances released to induce fever?
IL-1 IL-6 TNF
103
What vessel is derived from the common cardinal veins?
SVC
104
How does left heart failure lead to increased pulmonary arterial pressure?
LH failure --> backup of fluids in lungs --> pulmonary edema causes collapse of alveoli --> less ventilation --> VASOCONSTRICTION to shunt blood away from O2 poor areas --> pulmonary arterial HTN due to vasoconstriction --> increase afterload for right ventricle --> right heart failure
105
Indirect vs. Direct vs. Femoral hernias
Indirect: male infants - LATERAL to inferior epigastric vessels; persistent processus vaginalis; failure of inguinal ring to close Direct: older men; bulges from Hesselbach's triangle; MEDIAL to inferior epigastric vessels; due to weakness of transversalis fascia Femoral: women; protrudes from femoral ring; medial to femoral vessels; INFERIOR to inguinal ligament
106
Hesselbach's triangle
Inguinal ligament - inferiorly Inferior epigastric vessels - laterally rectus abdominus - medially Transversalis fascia - floor of triangle
107
Uncinate process of pancrease/major pancreatic duct - derived from?
Ventral bud
108
Pancreas divisum
Dorsal & ventral buds don't fuse Clinically silent usually Can predispose to recurrent pancreatitis; accessory duct drains majority of pancreas
109
Middle meningeal a. vs. middle cerebral a.
Middle MENINGEAL - branch of MAXILLARY -- branch of EXTERNAL carotid a. can be ruptured due to trauma in area where frontal, parietal, temporal, and sphenoid bones meet --> EPIDURAL hematoma --> transtenorial herniation, palsy of CNIII Middle CEREBRAL - branch of INTERNAL carotid a. can lead to SUBARACHNOID or intracerebral hemorrhage
110
What does a decrease in CO in CHF patients do to renin-angiotensin system?
Decrease CO --> low stretch in glomerular afferent arterioles --> renin-angiotensin system activation to bring BP up --> vasoconstriction --> increased arterial resistance and afterload (the pressure LV has to pump against)
111
Where is angiotensinogen converted to angiotensin I?
Liver
112
Systolic dysfunction
Decrease in myocardial contractility
113
Diastolic dysfunction
Inability of heart to relax sufficiently to allow adequate filling of blood
114
Zollinger-Ellison; why is it associated w/ diarrhea?
Hypersecretion of gastrin via pancreatic tumor Peptic ulcers result Diarrhea -- due to inactivation of intestinal & pancreatic enzymes by EXCESSIVE GASTRIC ACID
115
Polyarteritis nodosa (PAN)
Segmental TRANSMURAL NECROTIZING inflammation Medium/small sized arteries Necrotic tissue/immune complexes/complement/plasma proteins w/ smudgy eosinophilic deposit (fibrinoid necrosis) -- immune complex vasculitis
116
Buerger's disease (thromboangiitis obliterans)
Thrombosing vasculitis - medium/small sized arteries Tibial and radial arteries Heavy smokers, onset prior to 35
117
Takayasu arteritis
Giant cell (temporal) arteritis Jaw claudication Affects aortic arch Females <40yrs

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