QB - DISEASES2 Flashcards
Deficiency in pyridoxine
Pyridoxine required as cofactor for 1st step in heme synthesis
Decreased heme synthesis –> microcytic, hypochromic pyridoxine-responsive anemia (sideroblastic anemia)
Alveolar cells containing golden cytoplasmic granules –> dark w/ Prussian blue staining; what is pathology?
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)
Turner’s syndrome: levels of FSH/LH?
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
Fibroadenoma
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
Ductal carcinoma in situ (DCIS)
precancerous breast lesion
malignant clonal cell proliferation (contained by surrounding ductal BM)
Myopethelial (basal) layer preserved/uninvolved
Paget disease of nipple
Malignant cells spread from superficial DCIS into nipple skin (does not cross BM)
unilateral erythema and scale crust around nipple
Sclerosing adenosis
Central acinar compression/distortion (by surrounding fibrotic tissue) and peripheral ductal dilation
common finding in fibrocystic change
Mammary duct ectasia
Ductal dilation, inspissated breast secretions
Chronic granulomatous inflammation in periductal and interstitial areas
Medullary carcinoma
Solid sheets of vesicular, pleomorphic, mitotically active cells w/ significant lymphoplasmacytic infiltrate around/within tumor – pushing, noninfiltrating border
Temporal arteritis
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)
Reversal treatment for ingestion of rat poison
Pts. susceptible to GI bleeding (no coagulation factors)
Give fresh frozen plasma and vitamin K1
Hamartoma
Excessive growth of tissue type native to organ of involvement
Most common benign lung tumor
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
Type of lung cancer w/ neuroendocrine markers
Small cell carcinoma of the lung
Keratin pearls characteristic of what type of malignancy?
Squamous cell carcinoma
Membranous GN
Nephrotic
Generalized edema
Heavy proteinuria (>3.5g/day)
Hypoalbuminemia
Hyperlipidemia
IgA nephropathy (Berger disease)
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)
Squamous cell carcinomas of bladder
RARE
Associated w/ Schistosoma haematobium infection
Urothelial carcinoma
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)
Vitelline duct connects what two structures; when it it obliterated? What condition results if duct persists?
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
Umbilical hernia
Weakness of abdominal wall at umbilicus - midline protrusions covered by skin
Omphalocele
Midline defect in abdominal wall - incomplete closure – abdominal organs protrude through defect covered w/ peritoneal sac
Facor XIII deficiency
clot instability –> delayed, recurrent bleeding after trauma
Protein C acts w/ Protein S to inactivate what factors?
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)
Factor X activates thrombin; what does thrombin activate?
Thrombin activates factor V, VIII, and XI
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
Treatment of ALS
Riluzole
MOA: decreases glutamate release
What structures are damaged in poliomyelitis?
Enteroviral infection damages motor neurons in anterior horn –> LMN disease
Flaccid paralysis, atrophy, areflexia, fasciculation
Huntington disease; what structures are damaged?
Caudate nucleus + putamen
Symptoms of Friedrich ataxia
AR disorder – children 5-15yrs old
Ataxia
hypertrophic cardiomyopathy
kyphoscoliosis
foot abdnormalities
diabetes mellitus
Pathogenesis of Vitamin B12
Subacute combined degeneration of:
posterior & lateral spinal columns
Tumor staging vs. grading
Stage - TNM system (tumor size, nodal involvement, metastasis)
Grade - differentiation (high = high cellularity, nuclear peomorphism, poorly differentiated)
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
Older female, weight loss, abdominal discomfort, jaundice, epigastric mass; what GI association?
Pancreatic cancer
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
Early diastolic murmur heard better with handgrip exercise?
Aortic regurgitation
Mid-systolic pulmonary ejection murmur
due to increased flow across pulmonic valve
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)
Enzyme missing in albinism
Tyrosinase (uses tyrosine as substrate for melanin)
Enzyme missing in alkatonuria
Homogentisic acid oxidase
Accumulation of homogentisic acid in body that needs to be renally excreted
Gene mutations associated w/ Alzheimer’s
APP (chromosome 21)
presenilin 1 & 2
apoE4
APP & presenilin mutations promote AB-amyloid formation
Familial hypercholesterolemia
AD disorder
LDL receptor mutations – liver can’t take up LDL –> severe elevation in total cholesterol
Hypertrophic cardiomyopathy mutation
AD trait
mutation in B-myosin heavy chain
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
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
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.