Pathology Flashcards
T/F: all ApoB containing lipoproteins are atherogenic
It’s called ApoB 100 unless it’s in the chylomicron, in which case it’s ApoB48
mn: Apo -B - for Bad
The most common cardiovascular abnormalities in Turner syndrome are
bicuspid aortic valve (a/w sudden cardiac death), coarctation of the aorta, and aortic dissection.
The most common cardiovascular structures involved in Marfan syndrome are
the aorta and valves of the left heart (e.g., aortic root dilation, aortic regurgitation, mitral valve prolapse).
The granulomatous vasculitis are:
- ALL of the large vessel vasculitis’
- Giant cell arteritis
- Takayasu - NONE of the medium vessel vasculitis’
- TWO of the four small vessel vasculitis
- Wegener
- Churg-strauss
pathophys of achondroplasia
Mutations that result in constitutive activation of FGFR3 cause achondroplasia, a condition characterized by deficient longitudinal bone growth that manifests with short limbs and stature.
decreased iodine uptake is associated with HYPER or HYPO - thyroidism?
in some forms of HYPER-thyroidism –> because there’s already enough thyroid hormone being produced (in order to cause the symptoms), so there’s negative feedback causing decreased requirements for iodine/making new thyroid hormone
exception = Grave’s disease, because thyroid hormone production is upregulated at the level of the TSH receptor
what is Eisenmenger syndrome
Eisenmenger syndrome; can occur at any age
- Prolonged pulmonary hypertension due to a left-to-right shunt causes reactive constriction with permanent remodeling of pulmonary vessels → irreversible pulmonary hypertension
- Right ventricle hypertrophies to compensate for pulmonary hypertension → right ventricular pressure increasing and eventually exceeding left ventricular pressure → reversal of blood flow → onset of cyanosis; digital clubbing, and polycythemia
common causes of orthostatic hypotension
Medications (alpha1 adrenergic antagonists, diuretics), volume depletion (d/t hemorrhage, hyperglycemia, or diuretics), autonomic dysfunction (e.g. parkinsons and diabetes)
what is the feared outcome of low Apgar scores?
cerebral palsy
what is Stress hyperglycemia
Stress hyperglycemia is transiently elevated blood glucose levels in the context of severe illness (eg, sepsis, burns, major hemorrhage) in patients without preexisting diabetes mellitus. Cortisol, catecholamines, and glucagon released in response to severe metabolic stress act on the liver to increase glycogenolysis and gluconeogenesis.
Turner syndrome. cardiovascular abnormalities
The 45,XO genotype causes Turner syndrome. The most common cardiovascular abnormalities in Turner syndrome are bicuspid aortic valve, coarctation of the aorta, and aortic dissection.
mitral stenosis most common etiology
rheumatic heart disease
T/F: hyperparathyroidism can cause osteoporosis
yes, because T4 stimulates osteoclast activity
signs and symptoms of aortic coarctation
- claudication with exertion (d/t decreased lower extremity blood pressure
- delayed femoral pulses
- high pressure in the upper extremity and head/neck
XR sign: notched ribs
acute hypocalcemia signs and symptoms
tetany (Trousseau sign)
paresthesias (perioral tingling)
abdominal discomfort
diarrhea
QT prolongation
hypocalcemia differential
- iatrogenic hypoparathyroidism (caused by trauma during thyroidectomy or parathyroidectomy)
- vitamin D deficiency
- PTH resistance
- autoimmune hypoparathyroidism
- increased phosphate binding (rhabdomyolysis or tumor lysis syndrome)
- hypomagnesemia.
cardiac tamponade triad
muffled heart sounds, JVD, systemic hypotension
mn: go to MJ’S House to get a tampon
mitral stenosis commonly occurs as a late complication of _________________
MS commonly occurs as a late complication of rheumatic fever, which is more common in developing countries
epidemiology of myxoma
mn: adult hearts are LEFT with Myxed feelings
most common ages 40-60 in males,
usually left atrium
most common primary cardiac tumor
sporadic etiology
hamartomas commonly occur with what genetic condition?
tuberous sclerosis (d/t mutations in TSC1 or TSC2 tumor suppressor genes)
ps. hamartoma is just a regular tissue that developed wrong rather than a true neoplasm
_______________ is the radiologic modality of choice for evaluating pericardial effusions
3D Echocardiography
Prior to performing this, typically you’d have a chest XR with water bottle sign (enlarged heart with specific shape)
Beck Triad
Beck triad of cardiac tamponade (“becky has a tampon”)
- Hypotension
- Muffled heart sounds
- Distended neck veins
Meckel’s diverticulum
Meckel’s Diverticulum = outpouching of gut at ilium d/t vitalline duct remnant
- Considered a true diverticulum (contains all layers of bowel incl muscular layer)
- Can contain ectopic gastric tissue
- Sx of melena, periumbilical pain, ulcerb (esp if gastric acid secreted) but often discovered incidentally
- Dx via Technetium scan (taken up by parietal cells of gastric tissue)
Rule of 2s: (mn)
- 2% if population
- M:F = 2:1
- Within 2 feet of ileocecal valve
- ~2” in size
- Two –> “true” diverticulum
- two types of tissue
- “T” for two and technetium scan
what’s this finding?
double bubble sign a/w duodenal atresia
n.b Bilious vomitting develops after the first feed as there is no lumen for flow of intestinal contents.
duodenal atresia vs malrotation with volvulus
- duodenal atresia:
- bilious vomiting after 1st feed
- XR shows double bubble sign
- a.w down syndrome
- In malrotation, the cecum is positioned in the right mid- to upper quadrant instead of the right lower quadrant. At birth, this can be asymptomatic. As the baby feeds and peristalsis occurs, malrotation often leads to volvulus, a twisting of the intestines around the mesentery –> intestinal obstruction develops with symptoms of bilious emesis and abdominal pain. An abdominal x-ray is unreliable for diagnosis and is often normal. Upper GI contrast study with fluoroscopy is the test of choice. Treatment is surgical.
Good pasture syndrome vs granulomatosis with polyangiitis (GPA) or Micorscopic polyangiitis
all three have lower resporatory tract sx and glomerulonephritis.
but only GPA has upper respiratory tract sx
and microscopic polyangiitis is precepitated by medications
pathogenesis of hepatic encephalopathy
↓ hepatic metabolism → accumulation of ammonia (NH3) → increased conversion of glutamate to glutamine (b/c ammonia is used for this conversion and therefore pushes this reaction forward)-> accumulation of glutamine in astrocytes (NOT neurons), causing swelling and dysfunctional release –> less glutamine delivered to neurons –> disruption of excitatory neurostransmition + cerebral edema and ↑ intracranial pressure → neurological deterioration
what portocaval anastomosis site has the most dangerous associated pathology
esophageal varices because if they rupture and bleed it can be fatal
vs caput medusae or hemarrhoids
pathogenesis of achalasia
decreased inhibitory neurons in the myenteric plexus (NOT the submucosal plexus) at the LES
what is SMA syndrome
Superior mesenteric artery (SMA) syndrome is characterized by compression of the third portion of the duodenum between the aorta and the superior mesenteric artery. This results in intermittent duodenal obstruction. This often develops after significant weight loss which causes loss of mesenteric fat. Clinical manifestations of SMA syndrome include postprandial epigastric pain and early satiety, or more rarely bowel obstruction.
if goblet cells are found in the lining of the stomach, what does that mean?
they are not normally there, they start at the duodenum, so if they are present, that means the stomach wall is undergoing metaplasia
failure to pass meconium key ddx:
Hirschsprung’s disease and cystic fibrosis.
less likely are imperforate anus and failed recanaliztion of small bowel
n/b: in CF, you get Meconium ileus which is bowel obstruction due to thick, dry (inspissated) meconium.
(also imperforate anus, but this is less common therefore less likely)
duodenal ulcers vs gastric ulcers
- pain of duodenal ulcers decreases after a meal. By contrast, the pain of gastric ulcers usually increases with meals
- Duodenal ulcers are almost always associated with hypersecretion of gastric acid. Gastric ulcers, by contrast, may or may not be associated with such hypersecretion. Thus hyperplasia of the Brunner glands is expected in a patient with a duodenal ulcer, as these glands help neutralize stomach acid.n/b for both types of ulcers
- there will probably be a hx of NSAID use (or look for pt with osteoarthritis, where nsaid use is implied)
in barret’s esophagus, the tissue transforms into what tissue type?
into duodenal tissue, therefore you’d see Brunner’s glands which are unique to duodenum
common features of small bowel obstruction
nausea, bilious vomiting, abdominal distention, and succussion splash (a sloshing sound heard on abdominal auscultation after moving the patient suddenly).
drug induced esophagitis causes
NSAIDs, bisphosphonates, tetracyclines, potassium chloride, and iron,
mallory-weiss vs Boerhaave syn.
Mallory weiss - not full thickness, present in “weekend warrior” (isolated alcoholic binge) +hematemesis
Boerhaave - full thickness tear, pneumomediastinum, chronic alcoholism
skin manifestations in endocarditis (of any cause)
osler nodes, janeway lesions, roth spots, splinter hemorrhages
- Osler nodes: painful red/violaceous nodules usually found on the pads of fingers and toes;
- Janeway lesions: non painful red macules found on the palms and soles;
- Roth spots: a red hemorrhagic lesion of the retina with a characteristic white center representing fibrin-platelet plugs;
- Splinter hemorrhages: subungual hemorrhages appearing as linear non blanching brown-red lesions on the nail beds.
describe the typical aortic regurgitation murmur
decrescendo early-diastolic blowing murmur, best heard on the left lower sternal border, around the 3rd and 4th intercostal spaces
S3 gallops are normal in what types of patients
pregnant women and athletes (both of whom have high-output states physiologically) and children.
Mutation in KRAS is a/w
activating mutation in the oncogene KRAS causes pancreatic ductal adenocarcinoma
Mutation in BRAF is a/w
malignant melanoma
mn: BRAF –> Bratt –> meanie (starts with M)
Mutation in BCL2 is a/w
follicular lymphoma and DLBL (diffuse large B cell lymphoma)
Bcl-2 normally inhibits apoptosis. when it gets overexpressed, you get insufficient apoptosis and uncontrolled cell growth.
Occurs via t(14;18) translocation
mn: I’m Falling (Foll) BeCause Love (BCL)
Mutation in c-MYC is a/w
Burkitt lymphoma –> facial mass with ascites
d/t overexpression of it; it’s a transcription factor that increases expression of cyclins and cyclin dependent kinases
Mutation in APC is a/w
familial adenomatous polyposis
pt with angina, reduced femoral pulses, and carotid bruit
what’s the dx?
diffuse atherosclerosis
what are the possible causes of rapidly progressive GN (RPGN)
RPGN is a syndrome that is under the broader category of nephritic syndrome. Crescent formation (composed of proliferating parietal cells, lymphocytes, macrophages, and fibrin—on light microscopy is diagnostic regarless of cause)
causes:
- the small vessel vasculitides (except Henoch-Schonlein Pupura, aka IgA vasculitis) -all pauci-immune (no IF pattern)
- granulomatosis with polyangiits (GPA; mn: C is a bad grade for a GPA) (formerly Wegners). a/w C-Anca
- microscopic polyangiitis a/w P-Anca
- eosinophilic granulomatosis with polyangiitis (formerly Churg Straus) a/w P-Anca (+asthma)
- Goodpasture syndrome (ch/b linear IgG deposits + anti Collagen type 4 ab + complement along the GBM and alveaolor basement membrane). a/w hematuria + hemoptysis. No ANCA or ANA assoc.
- the “S” related causes: both cause diffuse proliferative glomerulonephritis d/t random deposition of antigen-ab complexes –> granular pattern on IF
- strep - PSGN
- SLE - lupus nephritis –> ant-nuclear ab (ANA)
“diffuse capillary wall thickening” is A/W what nephrotic syndrome
membranous nephropathy
*don’t confuse with “diffuse GBM thickening” as happens in Alport syndrome (alternating thinning and thickening)
pathogenesis of gallstones in Crohn’s disease
mucosa of terminal ileum inflamed –> dysfunctional bile acid reabsorption –> bile acids lost in feces –> not enough bile acids present to emulsify fat so the cholesterol/bile acid ratio increases –> supersaturation of bile with cholesterol causes gallstones
Abnormal separation of the dorsal (gastrointestinal tract) and ventral (respiratory tract) foregut results in __________________________________________
Symptoms include respiratory distress and choking with feeds; chest x-ray would not show cystic thoracic structures.
esophageal atresia with or without a tracheoesophageal fistula.
failure of closure of the pleuroperitoneal fold results in _______
congenital diaphragmatic hernia
sx: newborn with respiratory distress and decreased breath sounds unilaterally from pulmonary hypoplasia +scaphoid abdomen with barrel chest +chest XR with cystic features
clinical features of Kallmann syndrome (GnRH deficiency)
delayed puberty, small penis, anosmia, hearing loss, cleft palate
situs inversus (reversal of side of organs) is associated with what autosomal recessive condition
Kartagener syndrome a form of primary ciliary dyskinesia
pt will also have hx of recurrent respiratory infections and infertility
in what conditions can you see pulsus paradoxus
asthma (severe), COPD, constrictive pericarditis
forceful expulsion of gas and/or stool on digital rectal exam of newborn baby with bilious emesis is highly specific for what disorder
Hirschsprung
what is budd chiari syndrome
occlusion of hepatic vein (drains blood from liver/portal circulation into systemic circulation). liver biopsy shows centrilobular congestion and fibrosis
n.b. restrictive pericaraditis would present similarly (d/t blood backed up in systemic circulation)
pt with portal htn but normal liver biopsy most likely has what dx as the underlying cause?
portal vein thrombosis (upstream of liver)
what are the classic findings in a neonate born with congenital rubella syndrome
deafness, cataracts, blueberry muffin rash, patent ductus arteriosus
*PDA presents with machine like murmur
mn: it’s rude (rudella) to tak a machine gun on a duck (duct) hunt. it will make people deaf
Which DSD (in the fetus) will cause the mother to undergo virilization?
aromatase deficiency
what is the classic presentation for a pt with splenic infarction
Splenic infarction presents with left upper quadrant abdominal pain, left shoulder pain, and vomiting in a patient with a history of embolic disorders or hypercoagulability.
What are all the congenital defects a/w turner syndrome (45, XO)
- Horseshoe kidney
- Coarctation of the aorta (mn: C is horseshoe shape) +/-aortic dissection
- bicuspid aortic valve
- streak gonads,
- webbed neck,
- cubitus valgus (increased carrying angle),
- lowset hairline and ears
SIADH present in patients with what proad categories of conditions
- chronic physiologic stress (e.g. infection),
- tumors (e.g. small cell carcinoma of lung),
- medication adverse effect (e.g. carbamazepine)
What do you see in the XR and what is the probable dx?
hyperinflated lungs with increased bronchial markings = c/w COPD
what cardiac pathology is c/w with this change (orange) in pressure volume loop?
mitral regurg
what cardiac pathology is c/w with this change (red) in pressure volume loop?
aortic regurg
what cardiac pathology is c/w with this change (green) in pressure volume loop?
mitral stenosis
what cardiac pathology is c/w with this change (orange) in pressure volume loop?
increased contractility
“Equalization of cardiac chamber pressures” happens in what specific dx?
cardiac tamponade
What are the extrapyramidal symptoms and when do they occur most commonly?
mn: ADAPT (the 1st generation psychotics sucked b/c of these sx so they had to ADAPT and make new ones)
- Acute Dystonia (muscle contractions)
- Akathisia (restlessness, pacing)
- Parkinsonism (bradykinesia, rigidity, masked facies)
- Tardive diskinesia (weird mouth movements)
these occur in administration of 1st gen antipsychotics:
haloperidol, pimozide, trifluoperazine, fluphenazine, thioridazine, chlorpromazine.
causes of Dilated cardiomyopathy
mn: ABCCCD
hronic Alcohol overuse, Beriberi, Coxsackie B myocarditis, chronic Cocaine use, Chagas disease, and Doxorubicin toxicity.
pt with orthopnea, rales, an S3 sound, edema, and an elevated type B natriuretic peptide. + lack of left ventricular hypertrophy. What’s the dx?
dilated cardiomyopathy
Disarrayed myofibrils are pathognomonic for what condition
hypertrophic cardiomyopathy.
What is an accelerated junctional rhythm (AJR) and when does it occur?
Accelerated junctional rhythm (AJR) occurs when the atrioventricular (AV) junctional pacemaker is depolarizing at a rate that exceeds the rate of the sinus node. It can happen in digoxin toxicity (classic), myocarditis, and in the setting of high-dose beta agonists0
what is the most common cause of small bowel obstructions
surgical adhesions
(appears on XR as multiple dilated small bowel loops)
infant or child with harsh, holosystolic murmur most prominent at the left lower sternal border without accompanying symptoms (e.g. cyanosis) that was not heard at birth
what’s the defect? what’s the differential?
VSD
(d/t incomplete closure/development of interventricular septum)
tricuspid regurg (rare in a young person)
mitochondrial myopathies inheritance pattern
they are d/t mutation in mitochondrial DNA, so theyare inherited via maternal inheritance (both males and females can get the dz but only females can transmit it). Also, it exhibits hteroplasmy (mutation only affects some mitochondria, not others), so there are variable clinical presentations.
e.g. MELAS syndrome
MELAS syndrome
MELAS is an inherited mitochondrial myopathy d/y mutations encoding for electron transport chain proteins (so, not enough ATP) ch/b the sx outlined by the name:
- M: mitochondrial
- E: encephalomyopathy
- L: Lactic-
- A: -Acidosis
- S: stroke-like episodes (e.g. hemiparesis of the face, hemianopia, altered consciousness)
presents during childhood with fatigue and exercise intolerance +lactic acidosis. Labs: high CK and lactate. Muscle biopsy with ragged red fibers
cause of myotonic dystrophies
autosomal dominant mutations (exhibiting anticipation) affecting:
- DMPK gene (type 1, congenital or adult) causing repeat expansion of CTG sequences
- CNBP gene (type 2, adult form only) causing repeat expansion of CCTG sequences
^both cases causemore hydrogen bonding between C and G –> RNA forms into clumps –> attract RNA binding proteins, so some genes not accessible for transcription –> more protein produced
This patient with myoclonic epilepsy, a positive maternal family history of myopathies, and muscle biopsy findings demonstrating ragged muscle fibers has a presentation consistent with what disease
mitochondrial myopathy
myasthenia gravis is caused by __________
antibodies against the
acetylcholine receptors
on the postsynaptic membrane.
sx: fluctuating weakness and fatigability of ocular muscles
diabetes insipidus vs SIADH
Both are due to hypothalamus secretions
diabetes insipidus –> decreased vasopressin/ADH –> water not reabsorbed, but salt doesn’t go with it –> hyperosmotic volume contraction
SIADH –> excess ADH –> water is resorbed but salt conc doesn’t change –> theoretical hyposomotic volume expansion BUT compensatory mechanisms kick in (aldosterone and natriueretic peptides) –> euvolemia
sparing of the muscles of the forehead in facial paralysis indicates what
corticobulbar tract is affected instead of the facial nucleus or nerve
why is a person with PCOS at risk for endometrial hyperplasia
It happens by 3 parallel processes that all contribute to the same problem:
- Increased androgen production (male hormone) –> triggers HP axis to upregulate LH –> LH/FSH ratio elevated –> ovulation inhibited
- Obesity, which is common with PCOS –> induces hyperinsulinism,–> acts synergistically in the ovary with LH to upregulate androgen production.
- PCOS causes increased estrogen levels due to androgen-to-estrogen conversion by the enzyme aromatase within the ovary (eg, estradiol) and adipose tissue (eg, estrone). Estrogen normally stimulates endometrial proliferation to allow for implantation.
t/f you see chronic pelvic in patients with PCOS
false
what is the classic presentation of hyperplasa-based endometrial carcinoma?
women aged 55–65 with risk factors for unopposed estrogen with post-menopausal bleeding
workup with transurethral ultrasound, looking for increased in endometrial stripe, then do D&C if US is definitive. If suspicious for cancer, MRI and CT to stage it. on biopsy (which can involve D&C and therefore be therapeutic as well as diagnostic) you’d see increased gland to stroma ratio. Endometrial carcinoma does not metastasize, only grows. a/w PTEN mutation
vs serous pathway –> classic pt is an older black woman, +psamomma bodies a/w P53 mutation. worse prognosis
Bulimia nervosa is characterized by recurrent binge eating/purging and preoccupation with body image, much like in many patients with AN. However, patients with bulimia maintain their body weight at or above the minimally normal level and do not experience the signs of starvation that are present in this patient.v
presentation of Parvovirus categorized by age
fetus -hydrops fetalis
kids - “fifth disease” (erythema infectionsum) –> slapped cheek appearance
pts with sickle cell dz - aplastic crisis
adults - arthritis
pt presents with HTN, given lisinopril (ACE inhibitor), then has signs of lower GFR (oliguria + elevated BUN and creatinine). what’s the dx?
renal artery stenosis
mechanism: because ACE inhibitors decrease ang II –> ang II preferentially constricts efferent arterioles to maintain GFR in spite of decreased renal artery perfusion in this case, so reduced ang II will cause a severe drop in GFR in these pts
Lymphatic spread of infection is common in what types of infections
skin and soft tissue infections
Mitral valve prolapse classically causes what heart sound change(s)
a midsystolic click followed by the late systolic murmur of mitral regurgitation (best heard at the cardiac apex). The click is relatively high pitched, and the timing varies with changes in LV blood volume.
mononucleosis syndrome p/w:
fever, fatigue, sore throat, splenomegaly, atypical lymphocytosis
it is classically caused by Epstein barr virus (EBV) (dsDNA)
What are the risk factors for gallbladder stasis
- Pregnancy (d/t progesterone)
- Rapid weight loss
- prolonged parenteral nutrition
- octreotide
- upper spinal cord injuries
*n.b. gallbladder stasis is the pathogenesis of acalculous acute cholecystitis - classic prez is hospitalized pt.
what pathogens can cause gallstones
(*this is not asking which ones get trapped in common bile duct)
ascaris lumbricoides: “knobby-coated, oval eggs” see pic
E. Coli: “Gram-negative, rod shaped, facultative anaerobe; virulence factors of fimbriae, pili, K capsule, LPS endotoxin”
pathogenesis: organisms produce enzymes that hydrolyze conjugated bilirubin into unconjugated bilirubin
pt with fever, positive Boas sign, and positive murphy’s sign. What’s the dx?
acute cholecystitis
boas sign = raiation of RUQ pain to scapula
Although GH has direct effects on target tissue (eg, chondrogenesis, myocyte protein synthesis), its growth-promoting effects are primarily mediated by insulin-like growth factor-1 (IGF-1), which is released from ____________
the liver following stimulation of hepatic GH receptors.
Although IGF-1 is also produced locally in the hypothalamus to regulate central nervous system activity, this source does not contribute significantly to bone and soft-tissue growth
what is the presentation of Reye’s syndrome (aspirin poisoning in kids)
(liver failure and encephalopathy)
what are the possible sx assoc. with Fanconi syndrome
fanconi syndrome = DNA repair defect
P/w: short stature, thumb or radial defects, cafe-au-le spots, increased incidence of malignancies, aplastic anemia
what are the poss. sx assoc with diamond-blackfan anemia
diamond blackfan = abnormal synthesis of ribosomes
growth retardation, craniofacial abnormalities (hypertelorism & flat nasal bridge), thumb abnormalities, predisposition to blood cancers, anemic sx
is transferrin high or low when total iron (including stored iron) is low
Transferrin = marker of total iron in the body including stores, upregulated in low iron states
classic triad of Wernicke’s encephalopathy
- oculomotor disturbances (nystagmus)
- ataxia
- confusion
can be precipitated during glucose infusion of a chronic alcoholic, who is thiamine deficient. Because glucose pushes forward glycolysis and TCA, rapidly depleting thiamine, which is required for many enzymes in glucose metabolism
What are the two non-MI causes of sudden cardiac death (non MI, so usually in young pts)
Answer: Bicuspid aortic valve (an anatomical variant a/w turner syndrome) and HOCM (hypertrophic septum)
complications of aortic stenosis
Heart failure with preserved ejection fraction (diastolic dysfunction), atrial fibrillation, and pulmonary hypertension are common complications of AS.
α1-antitrypsin deficiency is characterized by what lung finding
panacinar emphysema
repeated spontaneous miscarriages and thromboembolic event are suggestive of what dx
antiphospholipid syndrome (APS) (a subtype/cause of thrombocytopenia)
Leser-Trélat sign
Multiple, sudden-onset seborrheic keratoses
caused by Activation of epidermal growth factor receptors
a/w Solid cancers (especially gastrointestinal adenocarcinoma)
what is Trousseau syndrome (aka thrombophlebitis migrans)
superficial thrombophlebitis that is recurrent and migratory (i.e., occurring in various locations, resolving, then appearing elsewhere). Referred to as Trousseau syndrome if related to underlying malignancy (most commonly pancreatic adenocarcinoma and bronchial carcinoma
Erythema nodosum - what is this?
Erythema nodosum is an inflammatory disorder. In many cases, the cause is unknown. In some cases, it may be triggered by strep throat or other infections.
Symptoms include flat, firm, hot, red, and painful lumps that usually appear on the shins. Later, they may fade and look more like a bruise and then resolve on their own.
Hilar lymphadenopathy is associated with what specific condition(s)
- fungal infections,
- mycobacterial infections (TB)
- sarcoidosis.
- hodgkin lymphoma
Erysipelas what is it
an infection of the superficial dermis and dermal lymphatic vessels that is typically deeply erythematous and painful, with tense edema and distinct borders +/- peau de orange appearnace
The most common cause of erysipelas is S pyogenes
What’s the most common cause of pharyngitis?
Viruses, especially adenovirus.
NOT strep, although that’s the most common bacterial cause
risk factors/causes for gout
Accumulation of abnormally ubiquitinated TAR DNA-binding protein-43 (TDP-43), which normally functions as a transcription inhibitor and DNA repair protein, is associated with what conditions
both amyotrophic lateral sclerosis and frontotemporal dementia
how do you treat malignant hyperthermia
malignant hyperthermia caused by Mutations In Ryanodine Receptor(RYR1)cause Ca2+ release from sarcoplasmic reticulum.
therefore it’s treated by dantrolene, which blocks ryanodine receptors to prevent release of Ca2+ from the SER
Polyarteritis nodosa
what is it, what is distinctive about it
- small to medium vessel (e.g., renal, coronary, and mesenteric arteries) vasculitis in middle age men A/W Hep B positivity (30%), renal microaneurysms, and transmural (tunica intima and tunica media, mn: PANmural inflammation) fibrinoid necrotizing inflammation (+leukocyte infiltration). p/w neurological sx (foot drop); spares the lungs.
- Patients typically present with systemic symptoms (eg, fatigue, fever, weight loss), renal failure, and abdominal pain/bloody stools due to ischemia of the involved organs
- “should be considered in young adults presenting with stroke or myocardial infarction. The diagnosis may be confirmed with a biopsy of involved tissue. Tx is corticosteroids, cyclophosphamide”
NOT autoimmune
granulomatosis with polyangiitis
Granulomatosis with polyangiitis GPA classic presentation
nasopharyngeal ulceration, sinusitis, hemoptysis, hematuria
head bobbing, “pistol-shot” femoral pulses points to what diagnosis
chronic aortic regurgitation
Fixed-split S2 is most closely associated with what heart condition
why: The right atrium has lower pressure than the left atrium, so blood flows through the defect from the left atrium to the right. The extra blood in the right atrium is then pumped into the right ventricle. The right ventricle pumps the excess blood across the pulmonic valve, delaying closure and prolonging P2. Those with ASD have a fixed-split S2 regardless of their respiratory status because the right ventricle always pumps excess blood.
atrial septal defect.
paradoxical splitting (split S2 during expiration and a single S2 during inspiration) is characteristic of what condition(s)
aortic stenosis and left bundle branch block
wide split of S2 is characteristic of what condition(s)
pulmonary arterial hypertension, right bundle branch block, pulmonary stenosis
S3 (if not physiologic) is caused by what conditions
HF with reduced EF
thyrotoxicosis (+ other high output states)
Mitral or aortic regurg
however, it can be normal in young people and during pregnancy
what conditions can cause Reynaud’s phenomonenon
- lupus
- progressive systemic sclerosis
- Buerger disease (Thromboangiitis obliterans) a/w smoking
- other collagen vascular diseases.
which lymphoma type has a painless waxing and waning lymphadenopathy
follicular (t(14;18)–> BCL2)
what is sezary syndrome
Sezary syndrome is a subtype of cutaneous T-cell lymphoma with leukemic and skin malignant T-cell involvement that often presents with lymphadenopathy, erythroderma, and pruritus. peripheral smear and skin biopsies showing characteristic lymphocytes with “cerebriform” nuclei, an elevated CD4+ cell count, and clinical findings of erythroderma, generalized lymphadenopathy, and pruritus.
The most common low-grade B-cell lymphoma is __________
follicular
while the most common low-grade T-cell lymphomas are cutaneous T-cell lymphomas, such as mycosis fungoides.
what is Human T-cell lymphotropic virus
An RNA virus that belongs to the family of retroviridae. . Involved in the pathogenesis of adult T-cell lymphoma and HTLV-associated myelopathy. This virus is endemic to Japan and the Caribbean. a/w IV drug use
what is mycosis fungoides
Mycosis fungoides is an indolent, CD4+ cutaneous T-cell lymphoma that presents on the skin. It is characterized by scaly, pruritic, well-demarcated skin plaques and patches. Named after shape of skin lesions, but it’s NOT of fungal origin.
ch/by “cerebriform nuclei” on histo
can progress to Sézary syndrome, a cutaneous T-cell lymphoma with leukemic dissemination of mutated T cells can be an advanced form of mycosis fungoides or arise de novo.
Giant cells with bilobed nuclei describe what kind of pathognomonic histopath (tissue biopsy)
Reed-sternberg cells in Hodgkin Lyphoma (CD15/30 positive, lack CD20)
Erythrocytes with basophilic nuclear remnants describes what kind of histopath finding and what is the assoc dz
Howell-Jolly bodies - seen on peripheral blood smears taken from patients with asplenia or functional splenic disorders such as sickle cell disease.
“Myeloblasts with azurophilic granules”
describes what kind of histopath finding and what disease(s) is assoc.?
Auer rods a/w AML
“Plasma cells with intracytoplasmic inclusions”
describes what peripheral blood cell finding and what dz is likely
Plasma cells with intracytoplasmic inclusions formed from accumulated immunoglobulins are typically seen in plasma cell dyscrasias such as multiple myeloma.
which lymphoma(s) is associated with EBV infection
Burkitt, Hodgkins and diffuse large b cell
Neoplastic lymphocytes that stain positive for tartrate-resistant acid phosphatase (TRAP) and CD11c in a bone marrow biopsy are characteristic findings of ____________
hairy cell leukemia.
Hairy cell leukemia classic prez
It manifests with symptomatic anemia and thrombocytopenia, splenomegaly, and (rarely) B symptoms,
AML and ALL classic prez
with
cytopenia, splenomegaly, and B symptoms are commonly seen,+ hepatomegaly and a rapid progression of the disease
most common type of non indolent non-Hodgkin lymphoma in adults
diffuse large B cell
follicular lymphoma is the most common indolent type (presenting slowly)
what cell types are increased in polycythemia vera
A chronic myeloproliferative neoplasm characterized by an irreversible increase in all myeloid lines: erythrocyte (predominates), granulocyte, and platelet
due to a mutation in the JAK2 gene. The increased blood cell mass leads to hyperviscosity, increasing the risk of thrombosis and poor oxygenation.
t/f: only CML can progress to AML
false, all myeloproligerative disorders can progress to AML
(essential thrombocytopenia, polycythemia vera, CML, primary myelofibrosis)
what mutation is involved in the myeloproliferative disorders
JAK2 mutations (Except fro CML, which has the BCR-ABL mutation)
what conditions are a/w teardrop cells (dacrocytes)
myelofibrosis and thallassemia (b/c both have extramedullary hematopoesis)
what is Erythroblastosis fetalis
an autoimmune hemolytic anemia that is most likely caused by Rh incompatibility and may present with jaundice, hepatosplenomegaly, and respiratory distress. When the mother had her first child, she was likely Rh negative and the child was Rh positive, resulting in the formation of maternal IgG antibodies that can affect future pregnancies.
what dzs are a/w autoimmune regulator protein (AIRE) dysfunction?
“Life is ACHe without AIRE”
- Adrenal insufficiency,
- chronic mucocutaneous Candidiasis
- Hypoparathyroidism
describe Chronic granulomatous disease
a rare, XR, primary immunodeficiency of phagocytes caused by deficiency in NADPH oxidase in neutrophils and macrophages. –> Defective superoxide production –> susceptibility to cat. pos. infections
what are the mutations associated with colon cancer
Colon cancer is associated with many gene mutations, including
APC, KRAS, RAF, and p53 mutations.
baby with non bloody vomiting and diarrhea with the duodenal biopsy as shown. what’s the dx
Celiac because it’s ch/b vilous atrophy of the duodenum
Erythema multiforme
what is it
what causes it
is a rash characterized by varying types of lesions, classically with target lesions (ring surrounding a dusky center).
causes:
- infectious: Mycoplasma pneumoniae and HSV,
- drugs: phenytoin, NSAIDs, beta-lactam antibiotics,
myocardial amyloid deposition usually causes what kind of cardiomyopathy
restrictive cardiomyopathy,
presentation of IgA vasculitis (also called Henoch-Schönlein purpura)
IgA vasculitis (also called Henoch-Schönlein purpura) presents with purpuric rash, abdominal pain, arthritis, and nephritic syndrome (IgA nephropathy/Berger dz)
often follows Upper respiratory infection (d/t mucus secretion –> increase IgA)
spares the lungs
pt with spider angiomas, ataxia, and IgA def what’s the dx
Ataxia telangiectasia syndrome - a form of B cell immunodeficiency d/t defect in ATM gene causeing failure to detect DNA damage. AR inheritance
a/w increased AFP; high sensitivity to radiation
alport syndrome
Hereditary nephritis (HN) (aka Alport syndrome), is defined as a spectrum of disease caused by mutations in genes encoding for type IV collagen (mn: al-FOURt) and resulting in thinning of the glomerular basement membrane commonly presenting in infants with gross hematuria as well as eye damage, and hearing loss.
It is X-linked in around 85% of cases, but it can also be autosomal recessive or autosomal dominant. Though rare, Alport syndrome is an important hereditary cause of end-stage renal disease (ESRD), as almost all men with the X-linked disease develop ESRD by middle age
One particular condition classically associated with Alport syndrome is anterior lenticonus, the outward bulging of the lens through the pupil.
sx of maple syrup urine dz
dystonia, irritability, poor feeding, vomiting, lethargy, and seizures.
what are degmacytes
bite cells as seen in G6PD deficiency (macrophages try to bite out the Heinz bodies)
mn: they “deg” them out
Biliary obstruction alone typically leads to ___________ (direct or indirect) hyperbilirubinemia,
direct (conjugated)
as a mechanical blockage prevents normal excretion of conjugated bilirubin.
Absence of multidrug resistance protein 2 is typical of what genetic disease
Dubin-Johnson syndrome. This protein transports bilirubin from the hepatocytes, after conjugation, into the bile collecting system. These patients can present with mild jaundice, but the hyperbilirubinemia is predominantly direct.
____________is a disorder in which the only significant abnormality is mild, unconjugated hyperbilirubinemia that manifests as jaundice in times of stress, such as fasting or gastrointestinal illness.
Gilbert syndrome
in contrast to Crigler-Najjar syndrome, which is more severe
If a pt has skin yellowing but no scleral icterus, what could be the dx
scleral icteris occurs before jaundice, therefore if it is not present, it’s a sign that the pt doesn’t have hyperbilirubinemia and they have pseudojaundice instead. Alternative cause would be elevated beta carotene levels (carotenemia) usually due to dietary intake (hypothyroidism causes reduced production of vit A thereby increasing beta carotene levels)
strongest risk factor for pancreatic adenocarcinoma
smoking
Pt with weight loss, smoking hx, abdominal pain, and obstructive jaundice with palpable non-tender gallbladder
what’s the dx
probably pancreatic adenocarcinoma of pancreas head blocking the common bile duct
why:
smoking is the #1 risk factor
weight loss is due to malabsorption (from decreased pancreatic enzymes)
a/w CA19-9 and CEA
struvite stones (ammonium magnesium phosphate) are a/w which conditions
infection with urease pos. bugs:
proteus mirabilis, staph sapro, klebsiella
hydrolyze urea to ammonia –> alkalization of urine
a/w Staghorn calculi and sarcophagus shaped stones
in what dzs would you see uric acid kidney stones
makes up 5% of stones overall, but would be most likely in pts with:
- gout
- dx with increased cell turnover (e.g. Leukemia) mn: l-U-kemia
radiol-U-cent on XR (unlike the other types of stones, except cystine stones which are also somewhat radiolucent); treated with allopurinol
what is the most common type of kidney stones and what causes them
Calcium stones (oxalate or phosphate)
causes: antifreeze ingestion, vitamin C overuse, Crohn’s dz (malabsorption)
radiopaque on XR, tx with thiazides, citrate, low sodium diet.
what is the prez of NF2
NF2 presents with benign neurologic tumors (vestibular schwannomas, meningiomas of the brain and spine), eye issues (cataracts), and cutaneous lesions (tumors, plaques).
classic prez of neuroblastoma
Neuroblastomas affect children younger than 4 years more often than any other age group. The child may present with abdominal distention and a palpable, irregular abdominal mass that tends to cross the midline (Figure 1). Commonly, the child’s parent notices the abdominal mass while bathing the child. Neuroblastomas grow rapidly and may cause hypertension because of compression of the renal artery or secondary to catecholamines release. In addition, children with neuroblastoma can develop opsoclonus-myoclonus syndrome (dancing eyes, dancing feet). A concerned parent may explain that the child’s eyes have been moving fast and the child’s muscles have been twitching.
2-year-old boy presents to the pediatrician after his mother noticed an irregular abdominal mass crossing the midline. On exam, the physician notes the patient’s dancing eye movements and unpredictable leg twitching.
what’s the dx?
neuroblastoma
CD19, CD20, and CD5+ immunophenotype is characteristic of what lymphoproliferative disorder?
CLL
Malignant vascular tumors such as hemangiosarcomas usually have a primary origin in the ____
spleen.
Fanconi syndrome
what dzs can cause it
Hereditary (all cause toxicity to PCT, leading to the syndrome)
- Wilson’s disease
- Tyrosinemia
- Glycogen storage disease
Acquired:
- hypovolemia –>ischemia
- multiple myoloma
- cisplatin, lead
n.b. this is the only renal tubular defect that can be hereditary OR acquired (the others, Bartter, Gitelman, and Liddle are all AR inherited)
what causes hereditary SAME
deficiency in 11-ß-hydroxysteroid dehydrogenase (degrades cortisol to cortisone, –> def. leads to excess cortisol accumulation)
as an acquired condition this can be caused by eating too much licorice
__________should be suspected in patients with elevated creatinine, heme-positive urine, and no RBC seen on urinalysis.
Rhabdomyolysis-induced acute tubular necrosis
Rhabdomyolysis can be caused by trauma, hypo/hyperthermia, severe hypokalemia, or drugs like statins.
The classic triad of rhabdomyolysis includes myalgias, generalized weakness, and myoglobinuria (darkened urine) +/- muddy brown casts
In a patient with systemic symptoms of fever, pruritis, wheezing, anorexia, and hepatomegaly, the diagnosis of ______________should be considered.
a nematode infection
pt with hepatosplenomegaly, osteoporosis, pancytopenia, and bone pain crises +/- avascular necrosis.
You find out this is a lysosomal storage dz. Which one is it?
Gaucher disease is a lysosomal storage disease due to a deficiency in β-glucosidase (glucocerebrosidase) –> causes accumulation of Glucocerebroside
presence of lipid laden macrophages (as in Neimann Pick dx) but in this dz, they look like crumpled up “Gouged” tissue paper
pt with coarse facial features, developmental regression, and hepatosplenomegaly.
you find out he has an X linked disorder caused by an enzyme deficiency. what is it?
Hunter syndrome is an X-linked recessive disorder caused by a deficiency of Iduronate-2-sulfatase.
if the pt had + corneal clouding, it would be Hurler syndrome, a deficiency in alpha - L -iduronidase
mn: Hunters see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive )
pt with hepatosplenomegaly, foam cells, and red spots on the macula.
You find out they have a lysosomal storage dz, which one is it?
Niemann-Pick disease is a progressive neurodegenerative disease caused by a sphingomyelinase deficiency –> accumulation of sphingomyelin
*Tay-sachs also p/w cherry red macula spot, but NOT hepatomegaly
pt with peripheral neuropathy, developmental regression, optic atrophy, and globoid cells.
you find out they have a lyosomal storage dz, which one is it
Krabbe disease is due to a deficiency in galactocerebrosidase; it can cause peripheral neuropathy, developmental regression, optic atrophy, and globoid cells. Causes accumulation of Galactocerebroside, psychosine
(mn: a crab is a constellation in the Galact-axy)
don’t confuse with Goucher, which is a def. in Glucocerebroside
pt with developmental regression, hyperreflexia, hyperacusis, and a “cherry-red” macula spot with NO hepatomegaly
you find out they have a lysosomal storage dz. which one is it?
Tay-Sachs
caused by a deficiency in hexosaminidase-A causing accumulation of GM2 ganglioside
mn: HeXosaminidase A (“TAy-SaX”)
histopathologic findings seen in dermatomyositis
- are infiltration of CD4+ T cells and complement proteins into the perimysium and small blood
- perifascicular atrophy and vasculitis
mn: ABCD –> 4th letter –> CD4+ t cells
prez of fructokinase deficiency
a benign, asymptomatic disorder called essential fructosuria. The diagnosis may be confirmed when fructose is detected on urinalysis, but this deficiency does not typically manifest with any clinical symptoms.
Deficiency of galactose-1-phosphate uridyltransferase prez.
Deficiency of galactose-1-phosphate uridyltransferase causes galactosemia, which manifests after ingestion of galactose in breast milk or formula
vs galactokinase deficiency, which presents later in life with only sx of cataracts
aldolase B deficiency
hypoglycemia (esp after fruit juice) + symptoms of lethargy, tachypnea, hypothermia, and diaphoresis is most consistent with hereditary fructose intolerance.
Hereditary fructose intolerance is a disorder characterized by deficiency of aldolase B. An enzyme critical in converting fructose-1-phosphate to intermediary products that can be utilized in glycolysis. Accumulation of fructose-1-phosphate leads to a decrease in the available phosphate, which leads to inhibition of glycogenolysis and gluconeogenesis.
vs essential fructosuria: fructokinase deficiency (mn: is kinder)
new born with low weight, jaundice, infantile cataracts, hepatomegaly, and vomiting after breastfeeding
what’s the dx
probably classic galactosemia caused by def of galactose-1-phosphate uridyltransferase
vs. A deficiency in galactokinase, which catalyzes the conversion of galactose to galactose-1-phosphate, causes infantile cataracts.
deficiency in Aldose reductase is implicated in what chronic dz
end-organ damage in diabetes mellitus.
which inborn error of metabolism is associated with increased risk of E. Coli infection
classic galactosemia caused by def of galactose-1-phosphate uridyltransferase
Pulmonary hypoplasia happens in oligo- or polyhydramnios?
oligohydramnios - caused by the lack of normal alveolar distension by aspirated amniotic fluid.
part of Potter sequence
what causes the sx in hereditary angioedema
an inherited disorder of deficient or dysfunctional C1 esterase inhibitor, leading to increased levels of bradykinin and C1 complement pathway products, which increase vascular dilation and permeability associated with angioedema.
n.b ACE breaks down bradykinin, and therefore ACE inhibitors should be avoided in patients with HAE due to increased swelling and risk of airway compromise.
renal biopsy with nodular sclerosis (also called Kimmelstiel-Wilson nodules) is ch/of what type of nephropathy
advanced diabetic nephropathy
Early diabetic nephropathy is characterized by thickening of the glomerular basement membrane (GBM) and by diffuse mesangial cellular hyperplasia.
Subepithelial immune deposits vs Subendothelial immune deposits vs Intramembranous immune deposits in Glomerular disease - wich dz causes which histopath
Subepithelial immune deposits can be seen in postinfectious GN or in membranous nephropathy
Subendothelial deposits are seen in lupus nephritis
mn Lupus is lower down
Intramembranous immune deposits are characteristic of membranoproliferative glomerulonephritis, which is mostly associated with hepatitis C infection
The most common cause of systolic HF is
ischemic heart disease, which can occur with or without a prior myocardial infarction.
presence of Q waves means
prior anterior myocardial infarction or dilated cardiomyopatphy
A 56-year-old man with difficulty breathing for a few months dies suddenly on his way to the emergency department. Histologic findings in a lung tissue specimen obtained at autopsy are shown. dx?
Microscopic features of pulmonary edema as a result of heart failure include the presence of hemosiderin-laden macrophages.
physical exam findings in pericardial effusion
Fluid in the pericardial space can cause cardiac tamponade, which presents with distant heart sounds, jugular venous distention, and hypotension; pulsus paradoxus (a decrease in systolic pressure by 10 mm Hg during inspiration) is often present.
Constrictive pericarditis causes
Constrictive pericarditis is marked by the proliferation of fibrous tissue that causes a loss of elasticity in the pericardial tissues. It can lead to the signs of right-sided heart failure.
Causes include viral infection, post-radiation therapy, postsurgical scarring, systemic lupus erythematosus, and rheumatic fever
what are Cutaneous neurofibromas and with what dz are they assoc.
usually manifest during early adolescence as multiple, raised, fleshy tumors (<2 cm) that often increase in size and number with age. These are benign nerve sheath neoplasms predominantly comprised of Schwann cells, which are embryologically derived from the neural crest.
neurofibromatosis type 1
alpha-1 antitrypsin deficiency pathophys
Neutrophil-secreted elastase is an endogenous proteolytic enzyme that hydrolyzes elastin within alveolar walls. The liver synthesizes alpha-1 antitrypsin, a protein that inhibits neutrophil elastase and prevents alveolar wall degradation, particularly in the lower airways. Patients with alpha-1 antitrypsin deficiency consequently develop excessive alveolar elastin degradation, which clinically manifests with early-onset, lower lobe–predominant emphysema.
newborn with hypoxemia and narrow mediastinal shadow
what’s the dx
transposition of the greater vessels
it’s a cyanotic heart defect that causes narrow medastinal shadow
also +/- murmur
Third-degree (complete) AV block pathophys
Third-degree (complete) AV block involves a total lack of communication between the atria and ventricles due to AV node dysfunction. It can result from ischemia, infiltrative disease (eg, sarcoidosis), infection (eg, Lyme disease), or age-related fibrosis with cellular degeneration.
auscultation findings in mitral stenosis
Classic physical examination findings include a loud first heart sound (S1), an early diastolic high-frequency opening snap after the second heart sound (S2), and a low-pitched diastolic rumble. These findings are best heard at the cardiac apex
The opening snap is caused by the sudden opening of the mitral valve leaflets when the left ventricular diastolic pressure falls below the left atrial pressure at the beginning of diastole.
what valve is affected most commonly in IV drug assoc. infective endocarditis
Tricuspid
Injection drug use is associated with the concurrent injection of abrasive particulate matter and microorganisms into the bloodstream. Over time, injected particulate material denudes the surface of the heart valves, thereby creating a variegated surface for microorganism attachment. This dramatically increases the risk of infective endocarditis (IE). The right-sided valves are at greatest risk because pulmonary capillaries prevent large particulate matter from reaching the left side of the heart; the tricuspid valve is involved in >90% of cases.
usually the pathogen is staph aureus
don’t confuse with rheumatic fever, in which the mitral valve is most commonly affected
histopath in TB
characterized by caseating granulomas (central necrosis is present) and acid-fast bacilli. Tuberculosis occurs more frequently in those with risk factors (eg, incarceration, homeless, high-risk health care workers)
child tripodding with extended neck in setting of fever most likely indicates what dx?
epiglottitis
newborn with chorioretinitis, hydrocephalus and diffuse intracranial calcifications
what’s the in utero infection?
toxoplasmosis
newborn with rhinorrhea (sniphilis), skeletal anomalies, and deSquamating rash
what’s the in utero infection?
syphilis
newborn with cataracts, heart defects (PDA), and sensorineural hearing loss.
what’s the in utero infection?
rubella
mn: RUDE-ella
newborn with periventricular calcifications, microcephaly, and sensorineural hearing loss
what’s the in utero infection?
CMV
newborn with vesicular/ulcerative rash
what’s the in utero infection
HSV
what part of the brain is most susceptible to damage from global cerebral ischemia
Global cerebral ischemia is typically precipitated by systemic hypotension (eg, cardiac arrest). The cells most susceptible to ischemia are the CA1 pyramidal neurons of the hippocampus. Other areas of the brain that are damaged early in the course of global cerebral ischemia include the cerebellar Purkinje cells and the pyramidal neurons of the neocortex.
What injuries affect the axillary nerve?
Anterior dislocation of the humerus and fracture of the surgical neck of the humerus are injuries affecting the axillary nerve.
how to differentiate distal vs proximal radial nerve injuries
proximal: loss of wrist extension (wrist drop) often caused by mid shaft humerus fracture
distal: lateral forearm pain
Damage to the radial nerve can occur due to midshaft humeral fractures or compression of the axilla (eg, with the use of crutches).
biceps weakness (decreased forearm flexion) what nerve root is damaged
C6
e.g. Erb’s palsy or C5-6 disc herniation
finger abduction and adduction impaired
what nerve root is affected
T1
finger flexion is impaired. what nerve root is affected
C8
forearm extension (triceps) impaired and middle finger paresthesias. what nerve root is affected
C7 (e.g. d/t C6-7 herniation)
upper arm abduction impaired + anesthesia over the shoulder
what nerve root is affeted
C5
impaires deltoid and teres minor muscles
what nerve is most commonly damaged during a shoulder surgery
musculocutaneous nerve –> leading to weakness of upper arm flexion and impaired sensation over latereal forearm
how to differentiate distal vs proximal median nerve injuries
proximal: loss of flexion of first three digits (pope’s blessing, when making fist). often caused by humerus supracondular fracture in kids)
distal: carpal tunnel syndrome or median claw
mn: M –> man –> makes a fist and only a man can be a pope
Winging of the scapula
what nerves affected and how does this most commonly occur
long thoracic nerve (coming off of C5-7)
due to injury of the long thoracic nerve is most often caused by penetrating trauma to the upper lateral chest, such as with a stab wound, or from a mastectomy or axillary LN dissection
The pain of acute appendicitis starts as visceral pain, which is carried by what nerve fibers
activated neurons of the T10 spinal cord segment.
loss of the biceps tendon reflex, and sensory loss over the lateral forearm
what nerve is damaged
musculocutaneous
hearing loss and multifocal bone pain with cortical thickening
what dx accounts for both of these findings
Paget dz of bone
high rate of bone remodeling: ↑ RANKL-RANK activity → ↑ NF-κB signaling → ↑ osteoclast activity → ↑ osteoblast activity → formation of disorganized (woven) bone
The pelvis, skull, vertebral column, and long bones of the lower extremities are the most commonly affected sites.
Skull involvement (in ∼ 40% of cases), leading to skull enlargement (increasing hat size), Cranial nerve deficits, Impaired hearing: due to ankylosis of the ossicles ; and narrowing of the internal auditory meatus
____________-should be considered in an asymptomatic patient who presents with isolated ALP elevation that cannot be explained by any other means (e.g., cholestasis or bone metastases).
Paget disease
has Normal calcium, phosphate, and parathyroid hormone (PTH) levels
tx for paget dx of bone
Bisphosphonates
inhibit osteoclast-mediated bone resorption. Used to treat hypercalcemia and bone metabolism disorders (e.g., osteoporosis or tumor-induced osteolysis).
Examples include zoledronic acid, pamidronate, etidronate, and alendronate.
A characteristic skin biopsy finding in systemic sclerosis
dermal layer expansion due to diffuse deposition of collagen (eosinophilic connective tissue), resulting in atrophy of the intradermal adipose tissue and dermal appendages (ie, hair follicles, glands).
CREST syndrome
name for the pentad of sx in limited scleroderma
Calcinosis cutis (pic)
anti-Centromere ab (mn)
Raynaud’s
Esophageal Dysmotility
Sclerodactyly
Telangiectasias
what is thromboangiitis obliterans and how does it present
decreased distal pulses, dry gangrene, and ulceration over the digits. Together, these findings indicate thromboangiitis obliterans, also called Buerger disease. Thromboangiitis obliterans is an occluding inflammation of small to medium vessels and is not a true vasculitis because the vessel wall is not inflamed. Because the pathophysiology is essentially small- to medium-vessel ischemia, its clinical presentation mimics that of peripheral arterial disease, and distal pulses are decreased compared with proximal pulses.
smoking = biggest risk factor
Bilateral lesions of the _____________cause Klüver-Bucy syndrome,
amygdala
characterized by hyperorality, hypersexuality, and behavioral disinhibition. This may be caused by herpes encephalitis.
what part of the brain affected by Wernicke-Korsakov encephalopathy
mamillary bodies, d/t their high O2 requirements
myasthenia gravis vs lambert eaton muasthenic syndrome - how do they differ in terms of clinical prez
Lambert-Eaton myasthenic syndrome manifests as proximal muscle weakness that improves with use + hyporeflexia. Myasthenia gravis presents as muscle weakness that worsens with use; reflexes spared.
dermatomyositis vs polymyositis
how do they differ in terms of histopathology
The pathology of dermatomyositis is perimysial inflammation with perifascicular atrophy.
polymyositis = Endomysial infiltration of inflammatory infiltrate
mn: remember that perimysial lines the fascicles, just like skin lines the body
what are the characteristic serum lab findings in Multiple myeloma
what are the characteristic urine findings
what does blood smear show
- blood: anemia, elevated calcium, +/- elevated creatinine (if there’s kidney damage, which often happens), ↑ β2 microglobulin
- urine electrophoresis: lambda light chains (aka Bence Jones Protein) (n.b. urine is foamy)
- Serum protein electrophoresis: (best initial test): monoclonal gammopathy with M protein (M spike) (NOT the same thing as IgM)
- blood smear: rollaux
- BMX: chromatin arranged in periphery of nucleus
MM should be suspected in elderly patients who have any combination of osteolytic lesions, hypercalcemia, anemia, or acute kidney injury (such as this patient). Other common symptoms include weight loss, constipation (due to hypercalcemia), fatigue, and recurrent infection
Renal disease is most commonly caused by light chain cast nephropathy, (excess free light chains exceed resorptive capacity of kidney and combine with Tamm Horsfall proteins to form eobstructive casts)
what is the pathophys of annular pancreas
compression of the second part of the duodenum
may be asymptomatic or p/w biliary emesis
the most common cancers (excluding basal and squamous cell skin cancer) in women by order of incidence are
breast, lung, and colorectal cancer.
what lab values define renal insufficiency
creatinine clearance < 40 mL/min or serum creatinine > 2 mg/dL
what triad characterizes Pellagra
dermatitis (in C3-C4 distribution), dementia, diarrhea
(mn: the 3 Ds of Vit B3 deficiency)
Pellagra can also be seen occasionally in those with carcinoid syndrome, prolonged isoniazid therapy, or Hartnup disease.
what is the typical clinical prez of Hyper IgM syndrome
Hyper-IgM syndrome, in which immunoglobulin class-switching is impaired due to CD40 ligand deficiency, typically presents in infancy with sinopulmonary and opportunistic infections. Recurrent cold skin abscesses do not typically occur (vs Hyper IgE syndrome)
Pyruvate kinase (PK) converts phosphoenolpyruvate to pyruvate during glycolysis. PK deficiency p/w _____________
causes chronic hemolytic anemia because glycolysis is the main source of energy for erythrocytes
what is this heart sound
Split S2
what spleen findings are a/w sickle cell dz
Repeated infarctions produce a shrunken, fibrotic spleen. By adulthood, most patients with SCD have undergone autosplenectomy and have a small, scarred splenic remnant. As a result, these patients have functional asplenia and are susceptible to infection with encapsulated organisms (eg, Streptococcus pneumoniae).
unilateral itchy rash on nipple and aerola unrelieved by corticosteroids what’s the most likely dx?
This patient likely has Paget disease of the breast (PDB), a malignant breast condition characterized by a unilateral, painful/pruritic, eczematous rash confined to the nipple and areola. Associated scaling and ulceration are also frequently seen.
PDB is diagnosed by tissue biopsy (eg, wedge, punch) that reveals Paget cells in the epidermis of the nipple-areolar complex. Paget cells are malignant, intraepithelial adenocarcinoma cells that appear enlarged with abundant cytoplasm and prominent nucleoli on microscopy. These cells and associated skin changes are thought to be caused by the spread of an underlying breast malignancy (eg, intraductal carcinoma, ductal carcinoma in situ) to the nipple surface via the mammary ducts, resulting in the eczematous nipple rash.
Because approximately 85% of patients have an underlying breast malignancy, all patients with PDB require diagnostic mammography even without a palpable breast mass.
what is a struma ovarii
Struma ovarii is an ovarian germ cell tumor composed of >50% mature thyroid tissue that can secrete thyroid hormone. Therefore, struma ovarii can be a rare cause of thyrotoxicosis (eg, weight loss, irregular menses, low TSH level).
On gross examination, struma ovarii typically appears as an oily (eg, sebaceous) cystic mass. Microscopic examination reveals thyroid follicles filled with colloid and surrounded by ovarian stroma.
pediatric patient with atopy and frequent infections who recently had a skin infection and now presents with bloody urine and normal BUN/Creatinine.
What’s the dx?
post streptococcal glomerulonephritis
beacuse skin infections in someone with recurrent infections is more likely strep
T/F: serum levels of calcium, phosphate and alk phos are normal in osteoporosis
TRUE
_____________is indicated by an elevated alkaline phosphatase level in the setting of normal calcium and phosphate levels. This disease is characterized by increased osteoclast activity, followed by increased osteoblast activity.
Paget’s disease of bone
Elevated alkaline phosphatase is a sign of hyperactive osteoclastic bone resorption
Hypercalcemia with normal phosphate and high alkaline phosphatase would be seen in ______________
metastatic cancer to the bones.
however *Note that malignancy usually causes hypercalcemia by secreting parathyroid hormone–like protein, which would act like hyperparathyroidism and cause hypercalcemia with hypophosphatemia.
vs hypercalcemia, decreased phosphate, and mildly elevated alkaline phosphatase levels seen in primary hyperparathyroidism
pathogenesis of acute pancreatitis
Pancreatic zymogens are normally converted into their active form by trypsin in the duodenal lumen. Premature cleavage of trypsinogen to trypsin within the pancreas leads to uncontrolled activation of these zymogens, causing pancreatic autodigestion and acute pancreatitis.
which cancers are most prone too metastasizing to the bone
breast, lung, thyroid, renal cell carcinoma, and prostate cancer.
pathogenesis of ankylosing spondylitis
the inflammatory process is thought to originate in the gut due to an altered intestinal biome and defects in the mucosal barrier; the resulting inflammatory response leads to upregulation of cytokines (primarily tumor necrosis factor-alpha and IL-17), with activation of innate immunity and migration of immune cells to the skeleton. The resulting skeletal manifestations are most prominent in areas of mechanical stress, primarily at the insertions of tendons, ligaments, and joint capsules (collectively, entheses) on bone.
prez: back pain with onset <40 yo that is insidious with stiffness better with activity, worse with rest
positive anti-tissue transglutaminase IgA antibodies indicates what disease
celiac dz –> villous atrophy –> decreased ADEK vitamin absorption
what’s the most likely dx?
these features are characteristic of megaloblastic anemia
what antibody is present in primary biliary cholangitis
anti-mitochondria
causes of pill esophagitis
Pill esophagitis occurs when caustic medications come in contact with the esophageal mucosa for a prolonged time, leading to direct mucosal injury. Common culprits include tetracyclines (eg, doxycycline), bisphosphonates (eg, alendronate), potassium chloride, and nonsteroidal anti-inflammatory drugs. This complication usually develops in locations where the esophageal lumen is compressed by other anatomic structures.
what category of cancer is this?
Squamous Cell Carcinoma
vs adenocarcinoma
to what is the autoantibody in Grave’s dz directed
thyrotropin receptor antibodies (TRAb), which bind and activate the TSH receptor.
vs Hashimoto’s thyroiditis (hypothyroidism) in which the antibody is directed against thyroid peroxidase
the hemolytic anemias are _____-cytic
normocytic
what 2 major pathways cause normocytic anemia
low production of RBCs or increased desctruction
the following are examples of what type of anemia?
hereditary spherocytosis
G6PD deficiency
Sickle Cell anemia
intrinsic hemolytic anemia
*by definintion, if its hemolytic, its normocytic
pathophys of hereditary spherocytosis
Young patient presents with fatigue and the attached lab values. whats the most likely diagnosis?
hemolytic anemia (probably one of the hereditary types)
causes of aplastic crisis
what microscopic finding is shown and what does it indicate?
Howell Jolly Bodies
- Some RBCs leave marrow with nuclear remnants
- Normally cleared by spleen
- Presence in peripheral blood indicates splenic dysfunction
Classic finding: spherocytes and Howell-Jolly bodies: Indicates patient post-splenectomy for spherocytosis
pathophysiology of PNH (paroxysmal nocturnal hemoglobinuria)
PNH is caused by lack of the glycosylphosphatidylinositol (GPI) anchor protein that holds CD55 and CD59 proteins on the surface of erythrocytes. CD55 and CD59 prevent complement activation. Without these proteins, the complement system attacks red cells and causes hemolysis. This is most evident in the morning when urine is especially concentrated and turns red from the presence of heme.
Although erythrocytes are most at risk for complement damage, leukocytes and platelets are also vulnerable. This may result in pancytopenia. Other features of PNH include thrombosis (the most common cause of death), abdominal pain, fatigue, jaundice, and erectile dysfunction in men
Schistocytes are seen in what type of hemolytic anemia?
with microangiopathic hemolytic anemia (e.g., HUS, TTP).
Acrocyanosis - what is it?
Acrocyanosis is blue discoloration of the distal extremities, nose, and ears. This is seen in cold (IgM) hemolytic anemia.
Flow cytometry for a patient shows deficiency of glycosylphosphatidylinositol (GPI)
what is the likely dx?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare etiology of hemolytic anemia caused by lack of the glycosylphosphatidylinositol (GPI) anchor proteins that hold CD55 and CD59 on the surface of erythrocytes. CD55 and CD59 prevent complement activation. Without these proteins, the complement system attacks red cells and causes hemolysis and hemolytic anemia. Diagnosis can be made by flow cytometry showing a deficiency of GPI-anchored proteins.
True or False: Elevated LDH is a lab finding common to all hemolytic anemias
LDH is released from red cells when hemolysis occurs. Patients with any cause of hemolytic anemia (including PNH) have elevated LDH levels. With less hemolysis, LDH levels decline.
n.b In clinical trials of eculizumab, LDH levels significantly decreased in all treated patients due to a decrease in hemolysis. LDH levels are commonly monitored as a marker of hemolysis in clinical trials.
the microcytic anemias are
- iron deficiency
- anemia of chronic disease
- thalassemia
- sideroblastic anemia (which includes lead poisoning)
what lab findings help differentiate between anemia of chronic disease and iron deficiency anemia
dx of lead poisoning - what labs?
What microscopic finding is shown and what type of anemia is it associated with
ringed sideroblast –> sideroblastic anemia
what microcopic finding is shown and what disease do you commonly find it in
target cell in beta thallasemia
what is HRI kinase?
heme-regulated inhibitor kinase
when active, it phosphorylates and therefore inactivates the transcription factor needed for globin synthesis. So heme is low, the HRI kinase is active, transcription factor is inactivated –> low globin synthesis
1st physiological response to vessel (endothelial) damage
Endothelin (ET-1) is released from damaged cells and binds to receptors on the target tissue (e.g., adjacent vascular smooth muscle). ET receptors are coupled to a Gq-protein and the formation of IP3. Increased IP3 causes calcium release by the sarcoplasmic reticulum, which causes smooth muscle contraction.
ET-1 formation and release are stimulated by angiotensin II (AII), antidiuretic hormone (ADH), thrombin, cytokines, reactive oxygen species, and shearing forces acting on the vascular endothelium. ET-1 release is inhibited by prostacyclin and atrial natriuretic peptide as well as by nitric oxide.
what is the round structure found in this histo slide of thymus tissue
Hassals corpuscle –> dense collection of thymic epithelial cells
T/F: beta-globin is required for normal gestation
FALSE. since b globin synthesis starts late, it is not required (gamma-globin predominates until shortly after birth)
what are the splenic sinusoids
reticulocytes vs erythrocytes in blood smear
r=reticulocyte
bone marrow histo
Dual antiplatelet therapy is standard practice in patients with acute coronary syndromes (e.g., unstable angina, myocardial infarction) who receive stents. This therapy involves aspirin plus what?
P2Y12 antagonist such as clopidogrel or prasugrel.
Phosphodiesterase inhibitors such as dipyridamole or cilostazol are used as vasodilators in the treatment of __________
claudication (cilostazol) or in pharmacologic stress testing (dipyridamole).
what classic abnormal morphology is shown
Reed-Sternburg Cells (RS cells) –> enlarged B cells with mirror image nucleoli
classic finding in hodgkin lymphoma
what classic abnormal morphology is shown
Reed-Sternburg Cells (RS cells) –> enlarged B cells with mirror image nucleoli
classic finding in hodgkin lymphoma
what is the likely cancer diagnosis?
Burkitt Lymphoma (a type of Non-hodgkin lymphoma)
what is the likely cancer diagnosis?
Burkitt Lymphoma (a type of Non-hodgkin lymphoma)
what characteristic RBC pathology is shown and what disease is it associated with?
Rouleaux (like a “roll” of coins) formation –> assoc with MM d/t elevated levels of plasma proteins
what characteristic RBC pathology is shown and what disease is it associated with?
Rouleaux (like a “roll” of coins) formation –> assoc with MM d/t elevated levels of plasma proteins
what characteristic pathology is shown
Auer rods–> ch/o Acute pro-myelocytic leukemia (APL) (subtype of Acute Myeloid Leukemia)
what characteristic pathology is shown
Auer rods–> ch/o Acute pro-myelocytic leukemia (APL) (subtype of Acute Myeloid Leukemia)
T/F: medulla contains mostly mature T cells.
true
Bone marrow–derived dendritic cells are present at the corticomedullary junction and within the medulla, and macrophages are present primarily within the medulla. The migration of thymocytes through this anatomic arrangement allows physical interactions between the thymocytes and these other cells that are necessary for the maturation and selection of the T lymphocytes.
Functional and phenotypic differentiation into CD4 + CD8 − or CD8 + CD4 − SP T cells occurs in the medulla, and mature T cells are released into the circulation
So, by the time they get to the center of the medulla, they are almost all mature
what are all the components released by platelet granules
ADP, TXA2, vWF, Serotonin –> recruit/activate more plts.
Calcium –> to be used in secondary hemostasis
MOA of Warfarin
warfarin inhibits hepatic vitamin K epoxide reductase –> blocking synthesis (recycling) of the active, reduced form of vitamin K –> decreased γ-carboxylation of glutamate residues on coagulation factors II, VII, IX, and X –> reduced coagulation
MOA of Heparin
Heparin binds to and potentiates the effects of antithrombin III, which inactivates thrombin and inhibits the coagulation factors II, VII, IX, X, XI, and XII.
Fast onset of action –> best for acute management
what are the DOACs (direct oral anticoagulants) and for whom are they indicated and contraindicated?
- Direct thrombin inhibitor: Dabigatran: reversibly binds to the active site on the thrombin molecule, preventing thrombin-mediated activation of coagulation factors
- Factor Xa inhibitor: Apixaban, Rivaroxaban, Edoxaban (mn: Xa BANned)
They are indicated for patients with non-valvular AFIB.
Contraindicated for pts with valvular AFIB, pregnancy, or renal impairment
AE of heparin
heparin-induced thrombocytopenia (paradoxical thrombosis in setting of low platelets –> most commonly in hospital setting)
hyperkalemia (MOA; toxic effect on adrenals –> hypoaldosteronism –> decreased aldosterone causes decreased K+ excretion [because aldosterone upregulates Na reabsorption in exchange for excreting K+])
osteoporosis
T or F: Vitamin K does not affect platelet number
TRUE, so vit K deficiency could cause increase bleeding but not thrombocytopenia
What are the vitamin K dependent clotting factors?
2, 7, 9, 10
Indications for warfarin
prophylaxis of DVT, PE, AFIB-related thrombus
contraindicated during pregnancy –> bone problems
