UWorld - All Subjects Flashcards
Your patient presents with irritability, abdominal cramps, anorexia, perioral dermatitis, and neurological signs (hand tremors and globally decreased reflexes). What is the most likely explanation?
inhalant abuse (glue, shoe polish, gasoline, spray paint)
What are the acute symptoms of inhalant use?
neurologic - tremors, disorientation, headaches, slurred speech, hallucinations
gastrointestinal - stomach cramps, nausea
cardiovascular - arrhythmia
respiratory - wheezing, coughing
psychiatric - irritability, mood swings, neurocognitive impairment, grandiosity
What are the symptoms of chronic inhalant use?
weight loss, anorexia, neurocognitive impairment, cerebellar dysfunction, and peripheral neuropathy (decreased reflexes)
What is an adverse effect of treatment with calcineurin inhibitors (tacrolimus, cyclosporine). When are these medications prescribed?
acute calcineurin inhibitor renal toxicity -> HTN and AKI caused by constriction of the afferent and efferent renal arterioles. (This is usually reversible with a decrease in the blood levels of the drugs)
These drugs are prescribed for organ transplant immunosuppression and inhibit lymphocyte-mediated rejection via inhibition of IL-2 production.
What adverse effect is shared by beta-lactam antibiotics as well as NSAIDs? What would you see on diagnostic tests?
both can trigger AKI due to acute interstitial nephritis (AIN). Evidence of inflammation (positive leukocyte esterase and elevated white blood cells with casts) is expected on urine studies.
In what time frame is acute tubular necrosis a concern following renal transplantation? What would you see on urine microscopy?`
most common in the first week following transplantation, usually resulting from preoperative graft ischemia.
You would expect to find muddy brown casts on urine microscopy.
PKU inheritance, deficiency, accumulated product, symptoms, diagnosis
inheritance: autosomal recessive
deficiency: phenylalanine hydroxylase
accumulation: phenylalanine
symptoms: severe intellectual disability, seizures, musty body odor, hypo pigmentation involving skin, hair, eyes, and brain nuclei
diagnosis: newborn screening exam OR quantitative amino acid analysis (if did not receive newborn screening)
Fructose intolerance deficiency, accumulated product, symptoms
deficiency: aldolase B
accumulated product: fructose-1-phosphate
symptoms: vomiting, poor feeding, lethargy; seizures/encephalopathy follow if fructose is not removed from the diet
galactosemia deficiency, symptoms, and time of presentation
deficiency: galactose-1-phosphate uridyl transferase
symptoms: jaundice, hepatomegaly, and failure to thrive after consumption of breast milk or infant formula
time: within the first few days of life
What are the levels of HgA, HgA2, HgF, and HgS in a normal patient?
HgA - 95-98%
HgA2 - ~2/5%
HgF - <1%
HgS - absent
What are the levels of HgA, HgA2, HgF, and HgS in a patient with beta-thalassemia minor?
HgA - decreased
HgA2 - increased
HgF - near normal
HgS - absent
What are the levels of HgA, HgA2, HgF, and HgS in a patient with beta-thalassemia major?
HgA - absent
HgA2 - significantly elevated
HgF - significantly elevated
HgS - absent
What are the levels of HgA, HgA2, HgF, and HgS in a patient with sickle cell trait?
HgA - significantly decreased
HgA2 - near normal
HgF - near normal
HgS - elevated
What are the levels of HgA, HgA2, HgF, and HgS in a patient with sickle cell disease?
HgA - absent
HgA2 - near normal
HgF - significantly elevated
HgS - significantly elevated
When do patients with beta thalassemia major present? What symptoms do they have? What symptoms can develop if this condition remains untreated?
- patients present around 6-12 months of life (due to HbF predominating in the first few months of life)
- present with fatigue and pallor due to microcytic anemia. splenic hemolysis can cause jaundice, dark urine, and splenomegaly.
- if left untreated, patients can develop skeletal abnormalities due to extramedulllary hematopoiesis.
What CXR findings are suggestive of foreign body aspiration?
unilateral lung hyperinflation with mediastinal shift to the unaffected side
BUT a normal radiograph does not rule out FBA because at least 30% of radiographs are normal
What procedure is used to confirm the diagnosis of foreign body aspiration and remove the object?
bronchoscopy
What is a common sequelae of congenital CMV?
sensorineural hearing loss
What are 2 common sequelae of congenital toxoplasmosis?
chorioretinitis and obstructive hydrocephalus
What is a common sequelae of congenital syphilis?
osteoarticular destruction (saber shins, Hutchison teeth, saddle nose)
What are 2 common sequelae of congenital rubella?
cataracts and sensorineural hearing loss (also present with PDA)
What 5 signs/symptoms would you expect in a congenital CMV infection?
- hepatosplenomegaly
- jaundice
- periventricular calcifications
- microcephaly
- thrombocytopenia
What is the treatment for congenital hearing loss?
antiviral therapy (valganciclovir, ganciclovir) - can preserve hearing function and improve neurocognitive development
What is the difference between the brain findings of congenital toxoplasmosis vs congenital CMV?
Toxo - obstructive hydrocephalus as well as parenchymal calcifications
CMV - hydrocephalus ex vacuo (due to parenchymal volume loss) and periventricular calcifications
What are the symptoms of pertussis (including the 2 stages)? What is the treatment and prophylaxis protocol?
symptoms -
first 1-2 weeks (catarrhal stage) - mild cough and rhinorrhea
paroxysmal stage - characteristic whooping cough
treatment - macrolide Abx (azithromycin, clarithromycin)
prophylaxis - macrolide antibiotic is recommended for post exposure prophylaxis for close contacts
What are 3 physical exam findings suggestive of aortic stenosis?
- diminished and delayed carotid pulses (pulses parvus et tardus)
- late-peaking, crescendo-decrescendo systolic murmur
- soft and single S2
(can develop an S4 heart sound due to increased pressure load and concentric left ventricular hypertrophy)
In what patient will an S3 heart sound be heard?
- chronic severe mitral regurgitation
- chronic aortic regurgitation
- heart failure
- occasionally in those with high cardiac output states, such as pregnancy or thyrotoxicosis
In what condition is a loud S1 heart sound typically heard?
mitral stenosis
What is the treatment for herpes zoster?
antiviral therapy: acyclovir, valacyclovir, famciclovir
postherpatic neuralgia: TCAs, pregabalin, gabapentin
etiology, clinical presentation, and management of primary Raynaud phenomenon?
Etiology: no underlying cause
Clinical presentation: usually women < 30 yo, no tissue injury, negative ANA and ESR
Management: avoid aggravating factors, calcium channel blocker for persistent symptoms
Etiology, clinical presentation, and management of secondary Raynaud phenomenon?
Etiology: connective tissue diseases, occlusive vascular conditions, sympathomimetic drugs, vibrating tools, hyperviscosity syndrome, nicotine
Clinical presentation: usually men age >40yo, symptoms of underlying disease, tissue injury or digital ulcers, abnormal nail fold capillary examination
Management: evaluate and treat underlying disorder, calcium channel blocker for persistent symptoms, aspirin for patients at risk of digital ulceration
What is the mechanism and adverse effects (3) of methotrexate?
mechanism: folate antimetabolite adverse effects: 1. hepatotoxicity 2. stomatitis 3. cytopenias
What is the mechanism and adverse effects (2) of leflunomide?
mechanism - pyrimidine synthesis inhibitor
adverse effects -
1. hepatotoxicity
2. cytopenias
What is the mechanism and adverse effect of hydroxychloroquine?
mechanism - TNF and IL-1 suppressor
adverse effect - retinopathy
What is the mechanism and adverse effects (3) of sulfasalazine?
mechanism - TNF and IL-1 suppressor adverse effects - 1. hepatotoxicity 2. stomatitis 3. hemolytic anemia
What are the adverse effects (4) of TNF inhibitors?
- infection
- demyelination
- CHF
- malignancy
What drugs belong to the group TNF inhibitors? (5)
adalimumab, certolizumab, etanercept, golimumab, infliximab
What is the clinical presentation of a lesion in the posterior limb of the internal capsule (lacunar infarct)
- unilateral motor impairment
- NO sensory or cortical deficits
- NO visual field abnormalities
What is the clinical presentation of a middle cerebral artery occlusion?
- C/L somatosensory and motor deficits (face, arm, and leg)
- conjugate eye deviation toward side of infarct
- homonymous hemianopia
- aphasia (dominant hemisphere)
- hemineglect (non dominant hemisphere)
What is the clinical presentation of an anterior cerebral artery occlusion?
- contralateral somatosensory and motor deficit, primarily in lower extremity
- abulia (lack of will or initiative)
- dyspraxia, emotional disturbances, urinary incontinence
What is the clinical presentation of a vertebrobasial system lesion?
- alternate syndromes with contralateral hemiplegia and ipsilateral cranial nerve involvement
- possible ataxia
What are the metabolic causes of peripheral neuropathy?
- diabetes mellitus
- hypothyroidism
- vitamin B12 deficiency
What are the toxic causes of peripheral neuropathy?
- alcohol use
- medications (phenytoin, disulfiram, platinum chemotherapy)
- heavy metals
What are the infectious causes of peripheral neuropathy?
- HIV
2. Lyme disease
What are the hereditary causes of peripheral neuropathy?
- Charcot-Marie-Tooth
2. Porphyria (acute intermittent porphyria)
Early insidious short-term memory loss, language deficits and spatial disorientation, later personality changes - what dementia subtype does this describe?
Alzheimer disease
stepwise decline, early executive dysfunction, cerebral infection and/or deep white matter changes on neuroimaging - what dementia subtype does this describe?
Vascular dementia
Early personality changes, apathy, disinhibition and compulsive behavior - what dementia subtype does this describe? What would you see on imaging?
Frontotemporal demenita
On imaging, you would see frontotemporal atrophy
visual hallucinations, spontaneous Parkinsonism, and fluctuating cognition - what dementia subtype does this describe?
dementia with Lewy bodies
ataxia early in disease, urinary incontinence, dilated ventricles on neuroimaging - what dementia subtype does this describe?
normal pressure hydrocephalus
behavioral changes, rapid progression, myoclonus and/or seizures - what dementia subtype does this describe?
prion disease
What is the epidemiology of Hodgkin lymphoma?
Epidemiology - bimodal peak incidence: age 15-35 and >60; associated with EBV in the immunosuppressed
What are the manifestations of Hodgkin lymphoma?
painless LAD, mediastinal mass, B symptoms (fever, sweating, weight loss), pruritus
How do you diagnose Hodgkin lymphoma?
lymph node biopsy that shows Reed-Sternberg cells on histology
Eye involvement, eye “stuck shut,” discharge, discharge reappearing after wiping, sensation, prodromal symptoms, conjunctival appearance of viral conjunctivitis?
eye involvement - unilateral OR bilateral
eye “stuck shut” - yes
discharge - water, scant, stringy
discharge reappearing after wiping - no
Sensation - burning, gritty
Prodromal symptoms - sometimes
Conjunctival appearance - diffuse injection; follicular or “bumpy”
Eye involvement, eye “stuck shut,” discharge, discharge reappearing after wiping sensation, prodromal symptoms, conjunctival appearance of bacterial conjunctivitis?
Eye involvement - unilateral OR bilateral
Eye “stuck shut” - yes
Discharge - purulent, thick
Discharge reappearing after wiping - yes
Sensation - unremitting discharge
Prodromal symptoms - no
Conjunctival appearance - diffuse injection; nonfollicular
Eye involvement, Eye “stuck shut,” discharge, discharge reappearing after wiping, sensation, prodromal symptoms and conjunctival appearance of allergic conjunctivitis?
Eye involvement - bilateral Eye "stuck shut" - yes Discharge - watery, scant, stringy Discharge reappearing after wiping - no Sensation - itchy Prodromal symptoms - no Conjunctival appearance - diffuse injection, follicular or "bumpy," conjunctival edema (chemosis)
What are red flags when diagnosing conjunctivitis that suggest another etiology?
- decreased visual acuity
- photophobia
- ciliary flush
- foreign body sensation
- corneal opacity/infiltrate
- fixed/distorted pupil
- trouble keeping eye open
- severe headache with nausea
What is the MOA of atomoxetine? What does it treat?
norepinephrine reuptake inhibitor; non stimulant option for ADHD
What is the MOA of guanfacine and clonidine? What are they used to treat?`
alpha-2 adrenergic agonists; non-stimulant options for ADHD (used when there is a poor response to or intolerable side effects from stimulants or coexisting conditions (tic disorders))
When is it appropriate to use atomoxetine over a stimulant medication when treating ADHD?
appropriate for patients with a history of illicit substance use or when there is a strong family preference against stimulant medication
How does methotrexate cause oral ulcers/stomatitis as well as macrocytic anemia?
MOA - inhibition of dihydrofolate reductase, which causes cellular folate depletion
This leads to impaired DNA synthesis, which is most pronounced in rapidly dividing cells. Causes bone marrow suppression -> microcytic anemia
autoimmune disorder in which IgG antibodies form against platelet membrane proteins
immune thrombocytopenia
What is the prognosis for cases of immune thrombocytopenia?
most cases resolve within 3 months; however, some patients continue to have platelets < 100,000 for > 1 year, which is known as chronic ITP
What is the treatment for chronic immune thrombocytopenia?
- examination and blood test for infection (H
IV, Hep C, CMV) and autominne disorders (SLE, thyroid disease)
Then treat as if acute ITP:
- asymptomatic = observation
- combo of glucocorticoids, anti-D immune globulin (if Rh-positive and Coombs-negative) and/or IVIg for bleeding episodes)
What is the treatment for acute immune thrombocytopenia?
observation alone if asymptomatic.
OR (if bleeding and/or platelets < 30,000) combo of glucocorticoids, anti-D immune globulin (if Rh-positive and Coombs-negative) and/or IVIg for bleeding episodes
What is the second ling therapies for immune thrombocytopenia, and when would you use them?
second line therapies = rituximab, thrombopoeitin receptor agonists, or splenectomy
You would consider using these if the patient has bleeding and thrombocytopenia requiring repeated pharmacologic interventions
What are the etiology, clinical findings, and laboratory findings of immune thrombocytopenia?
Etiology: platelet autoantibodies AND preceding viral infection
Clinical findings: petechia, ecchymosis, mucosal bleedings (epistaxis, hematuria)
Lab findings: isolate thrombocytopenia < 100,000, few platelets (size normal to large) on peripheral smear
What is the first step in workup of primary amenorrhea, and what path do you take after?
- evaluate for presence of uterus.
Present -> test FSH
Absent -> Karyotype (46, XY (androgen insensitivity) or 46, XX (mullein agenesis)
What is the next step in workup of a patient with primary amenorrhea, uterus present on exam, and Low FSH?
Test TSH and prolactin
If both are normal -> functional hypothalamic amenorrhea
What is the next step in workup of a patient with primary amenorrhea, uterus present on exam, and Normal FSH?
Dx = imperforate hymen
What is the next step in workup for a patient with primary amenorrhea, uterus present on exam, and High FSH?
Karyotype -> 46, XX = primary ovarian insufficiency
45, XO -> Turner syndrome
What is the diagnosis of a patient with primary amenorrhea, uterus present on exam, Low FSH, high TSH, and high Prolactin?
hypothyroidism
What is the diagnosis of a patient with primary amenorrhea, uterus present on exam, Low FSH, normal TSH, and high prolactin?
prolactinoma
What is the most common risk factor for orbital cellulitis? What bacteria usually cause this?
sinusitis, particularly of the ethmoid or maxillary sinuses; strep species and staph aureus
What are the 3 possible causes of hyperbilirubinemia when it is mainly unconjugated hyperbilirubinemia?
- Overproduction (hemolysis)
- Reduced uptake (drugs, portosystemic shunt)
- Conjugation defect (Gilbert syndrome)
What are the 6 possible causes of direct (conjugated) hyperbilirubinemia with predominantly elevated AST and ALT?
- viral hepatitis
- autoimmune hepatitis
- toxin/drug-related hepatitis
- hemochromatosis
- ischemic hepatitis
- alcoholic hepatitis
What are the 2 possible causes of direct (conjugated) hyperbilirubinemia with normal AST, ALT, and alkaline phosphatase?
- Dubin-Johnson syndrome
2. Rotor syndrome
What are the 6 possible causes of direct (conjugated) hyperbilirubinemia with predominantly elevated alkaline phosphatase? What is the next step in workup?
- cholestasis of pregnancy
- malignancy (pancreases, ampullary)
- cholangiocarcinoma
- primary biliary cirrhosis
- primary sclerosing cholangitis
- choledocholithiasis
Next step in work-up: abdominal imaging (U/S or CT) and antimitochondrial Ab
What are the 3 criteria of the Light criteria, and what does it mean?
- pleural fluid protein/serum ration >0.5
- Pleural fluid lactate dehydrogenase (LDH)/serum LDH ration >0.6
- Pleural fluid >2/3 of the upper limit of normal (ULN) for serum LDH
If positive, pleural effusion is exudative.
What are the laboratory/imaging findings of interstitial lung disease?
- CXR can show reticular or nodular opacities
- high-resolution chest CT usually shows fibrosis, honeycombing, or traction bronchiectasis
- PFTs: normal or increased FEV1/FVC ratio, decreased total lung capacity, decreased reserve volume
- exertion usually causes significant hypoxemia due to V/Q mismatch
(Will have increased alveolar-arterial gradient)
What is the first step in workup of a patient with suspected acromegaly?
IGF-1 level
If normal -> rules out acromegaly
What is the next step in workup of a patient suspected to have acromegaly and has an elevated IGF-1 level?
oral glucose suppression est
If adequate GH suppression -> rules out acromegaly
What is the next step in workup of a patient suspected to have acromegaly, has elevated IGF-1, and inadequate growth hormone suppression on oral glucose suppression test?
MRI of brain
You suspect your patient has acromegaly. They have an elevated IGF-1, inadequate oral glucose suppression test, and a pituitary mass on MRI. What’s next?
evaluate surgical vs medical management
You suspect your patient has acromegaly. They have an elevated IGF-1, inadequate oral glucose suppression test, and a normal pituitary on MRI. What’s next?
evaluate for extra pituitary cause of acromegaly (ectopic growth hormone and growth hormone-releasing factor secreting tumors)
What is the path, Sx, and Tx of scabies?
Path: Sarcoptes scabiei mite infestation, spread by direct person-to-person contact
Sx: extremely pruritic pathognomonic burrows and small, erythematous papules; rash located on interdigital web spaces, flexor wrists, extensor elbows, axillae, umbilicus and genitalia
Tx: topical 5% permethrin OR oral ivermectin
What is the immediate treatment for DKA?
Normal saline and regular insulin infusion
When do you add glucose into DKA treatment? In what form?
5% dextrose when serum glucose is = 200mg/dL
When do you switch from IV to SQ insulin in a patient with DKA? When do you hold IV insulin/Tx all together? How do you switch from IV to SQ?
hold IV insulin if K+ < 3.3 mEq/L)
Switch to SQ from IV insulin for the following:
- able to eat
- glucose < 200mg/DL, anion gap < 12 mEq/L and serum HCO3 >/= 15 mEq/L
Overlap SQ and IV insulin by 1-2 hours.
When do you add potassium to a patient’s DKA treatment?
add IV K+ if serum K+ <5.3 mEq/L; nearly all patients are K+ depleted
When do you consider adding bicarbonate for patients in DKA?
pH = 6.9
When do you consider adding phosphate for patients in DKA?
phosphate < 1.0 mg/dL, cardiac dysfunction, or respiratory depression
Monitor serum calcium frequently
What is the path, Sx, lab findings, and Tx of Fanconi anemia?
Path: inherited DNA repair defect, bone marrow failure
Sx: short stature, hypo/hyperpigmented macule, abnormal thumbs, genitourinary malformations
Lab findings: pancytopenia, positive chromosomal breakage testing
Tx: hematopoietic stem cell transplant
What is the MOA of phenytoin? What does acute toxicity look like? Severe toxicity?
MOA - inhibits voltage-gated sodium channels
Acute toxicity - signs of cerebellar dysfunction - horizontal nystagmus, ataxia, dysmetria, slurred speech, N/V, and hyperreflexia
Severe toxicity: AMS (lethargy, confusion), coma, paradoxical seizures, and death
What is the MOA of heparin-induced thrombocytopenia type 2? (HIT)
immune system forms IgG autoAb that covers platelets and forms complexes (heparin-PF4-HIT Ab) resulting in thrombocytopenia and arterial and venous thrombus
How does type 2 HIT cause arterial and venous thrombus?
HIT Abs activate platelets, resulting in platelet aggregation and the release of procoagulant factors. The risk of thrombus is as high as 50% in untreated HIT
What is the MOA of heparin?
binds antithrombin, which inactivates factor Xa; this prolongs activated partial thromboplastin time
What symptoms result from vertebrobasilar insufficiency?
dizziness, vertigo, ataxia, and visual disturbances
What is the epidemiology, Sx, Lab findings, and Tx of hereditary spherocytosis?
Epidemiology: usually autosomal dominant, Northern European descent
Sx: hemolytic anemia, jaundice, splenomegaly
Lab findings: increased MCHC, negative Coombs test, Spherocytes on peripheral smear, increased osmotic fragility on acidified glycerol lysis test, abnormal eosin-5-maleimide binding test
Tx - folic acid supplementation, blood transfusion, splenectomy
What are the signs/symptoms, dx, and tx of dermatomyositis?
sx: muscle weakness (proximal, symmetrical, UE = LE), skin findings (Gottron’s papules, heliotrope rash), extra muscular findings (interstitial lung disease, dysphagia, myocarditis)
Dx - increased CPK, aldolase, LDH, anti-RNP, anti-Jo-1, anti-Mi2, diagnostic uncertainty - EMG, skin/muscle biopsy
Tx - high dose glucocorticoids PLUS glucocorticoid-sparing agent, screen for malignancy
What would microscopy show with aspergillus infection? What kind of patients get this and what does it cause?
immunocompromised patients; causes pulmonary disease (upper lobe cavitary disease)
microscopy shows acid-fast negative hyphae
What is present on gram stain with nocardia infection? What is the treatment?
presence of filamentous, gram-positive, weakly acid-fast rods
Tx = TMP/SMX
What is the path, Sx, Lab findings, and Tx of Henoch-Schonlein purpura?
Path: IgA-mediated leukocyctocalstick vasculitis
Sx - palpable purpura, arthritis/arthralgia, abdominal pain, intussusception, renal disease similar to IgA nephropathy
Lab findings: normal platelet count and coagulation studies, normal to increased creatinine, hematuria +/- RBC casts +/- proteinuria
Tx - supportive (hydration and NSAIDs) for most patients, hospitalization and systemic glucocorticoids in patients with severe symptoms
What are the clinical symptoms of SLE?
Constitutional: fever, fatigue, and weight loss
Symmetric, migratory arthritis
Skin: butterfly rash + photosensitivity
Serositis: pleurisy, pericarditis, peritonitis
Thromboembolic events (due to vasculitis + antiphospholipid antibodies)
Neurologic: cognitive dysfunction + seizuress
What are the laboratory findings suspected in SLE?
hemolytic anemia, thrombocytopenia + leukopenia
hypocomplementemia (C3+C4)
Antibodies: ANA (sensitive), Anti-dsDNA + anti-Sm (specific)
Renal involvement: proteinuria + elevated creatinine
How does Behcet disease typically present?
multiple oral and genital ulcers that are recurrent and painful (hematologic and renal abnormalities are not typically seen)
What is Felty syndrome? What are some Sx?
Felty syndrome is a potentially serious complication of RA characterized by neutropenia and splenomegaly. Recurrent bacterial infection is common (due to neutropenia) and may lead to LAD.
HIV dementia path, Sx, Tx
path: patients with long-standing HIV disease and CD4+ count <200. Macrophage-mediated signaling pathways and associated toxicity leads to neuronal dysfunction
Sx - increasing apathy and impaired attention, subcortical dysfunction with slowed movement and difficulty with smooth limb movement
Tx - adherence to antiretroviral therapy may improve HAD symptoms
How does cutaneous blastomycosis manifest? Where is it commonly found?
cutaneous blastomycosis manifests as well-circumscribed verrucous nodules and plaques that progress to micro abscesses
Endemic to the central US
What is another name for multiple system atrophy? What are the 3 main symptoms?
Shy-Drager syndrome
Sx:
1. Parkinsonism
2. Autonomic dysfunction (postural hypotension, abnormal sweating, disturbance of bowel or bladder control, abnormal salivation or lacrimation, impotence, gastroparesis, etc)
3. Widespread neurological signs (cerebellar, pyramidal, or lower motor neuron)
What is treatment for multiple system atrophy/Shy-Drager syndrome?
Treatment is aimed at intravascular volume expansion with fludrocortisone, salt supplementation, alpha-adrenergic agonists, and application of constrictive garments to the lower body
What is another name for familial dysautonomia? How is it inherited? How does it present?
Riley-Day syndrome
Autosomal-recessive seen predominantly in children of Ashkenazi Jewish ancestry
Presents at birth with feeding problems and low muscle tone; it is characterized by gross dysfunction of the autonomic nervous system (no tears) with severe orthostatic hypotension (swings from severe HTN to postural hypotension)
Epidemioplogy, Sx, Dx, and Tx of Leprosy?
Epidemiology: mycobacterium leprae, primarily in developing world, spread by respiratory droplets or armadillos
Sx: macular, anesthetic skin lesions with raised borders; nodular, painful nearby nerves with loss of sensory/motor function
Dx: full thickness biopsy of skin lesion; not culturable
Tx: dapsone + rifampin (add clofazimine if severe)
What type of patients should be treated if their PPD skin test shows induration of >/= 5mm?
- HIV-positive patients
- Recent contacts of known TB case
- Nodular or fibrotic changes on CXR consistent with previously healed TB
- Organ transplant recipients and other immunosuppressed patients
What type of patients should be treated if their PPD skin test shows induration of >/= 10mm?
- Recent immigrants (< 5 years) from TB-endemic areas
- Injection drug users
- Residents and employees of high-risk settings (prisons, nursing homes, hospitals, homeless shelters)
- Mycobacteriology lab personnel
- Higher risk for TB reactivation (diabetes, leukemia, ESRD, chronic malabsorption syndromes)
- Children age <4, or those exposed to adults in high-risk categories
At what PPD induration level do all patients need to be treated regardless of health or risk status?
> /= 15mm
When does neonatal abstinence syndrome present? What are the symptoms?
- presents in the first few days of life
Sx: high-pitched cry, sleeping and feeding difficulties, tremors, seizures, autonomic dysfunction (sweating, sneezing), tachypnea, vomiting, diarrhea
(within 48 hours of birth for heroin withdrawal and 48-72 for methadone)
What is the treatment for neonatal abstinence syndrome?
symptomatic care to calm the infant and help them sleep, providing small, frequent feeds, and keeping the infant in a low-stim environment (Pharmacologic treatment, including morphine, methadone, and buprenorphine, should only be used when supportive treatment alone does not control withdrawal symptoms)
What are the symptoms for prenatal exposure to cocaine? what are the possible long-term effects?
Prenatal exposure can result in jitteriness, excessive sucking, and a hyperactive Moro reflex
Long-term effects on behavior, attention level, and intelligence may be seen
primary adrenal insufficiency combined with fevers, pulmonary airspace disease (daily cough) with LAD and prior residence in Southeast Asia; diagnosis?
miliary TB (autoimmune adrenalitis is the most common etiology of primary adrenal insufficiency/Addison disease but disseminated chronic infection can also cause the disorder)
Sx, associated conditions, and Dx of porphyria cutanea tarda?
Sx: blisters, bullae, scarring, hypopigmentation/hyperpigmentation on sun-exposed skin (back of hands, forearms, face); scarring and calcification similar to scleroderma
Associated conditions: Hepatitis C, HIV, excessive alcohol consumption, estrogen use, smoking
Dx: mildly elevated liver enzymes and iron overload; elevated plasma or urine porphyrin levels
What are the symptoms of mixed cryoglobulinemia, and what is its associated condition?
Sx: palpable purpura, arthralgias, and glomerulonephritis
Associated with hepatitis C due to immune complex deposition in small blood vessels, leading to endothelial injury and end-organ damage
Path, Sx, and lab findings of systemic sclerosis?
Path: progressive tissue fibrosis, vascular dysfunction
Sx: systemic: fatigue, weakness
Skin: telangiectasia, sclerodactyly, digital ulcers, calcinosis cutis
Extremeties: arthraglias, contractors, myalgias
GI: esophageal dysmotility, dysphagia, dyspepsia
Vascular: Raynaud phenomenon
Lab findings: Antinuclear antibody, Anti-topoisomerase I (anti-Scl-70) antibody, Anticentromere antibody
What are the complications of systemic sclerosis?
Lung: interstitial lung disease, pulmonary arterial HTN
Kidney: HTN, scleroderma renal crisis (oliguria, thrombocytopenia, microagniopathic hemolytic anemia)
Heart: myocardial fibrosis, pericarditis, pericardial effusion
What are the symptoms of lithium toxicity?
Neurologic - AMS, seizure, fasciculations, tremor
GI - vomiting, diarrhea
When is hemodialysis considered for treatment of lithium toxicity?
Lithium levels >2.5 (Patient with levels > 4 and creatinine >2.0 should generally be prescribed dialysis)
What drugs affect the excretion rate of lithium?
NSAIDs, ACE inhibitors, angiotensin receptor blockers, and dehydration by any cause. (lithium is really excreted)
How does systemic juvenile idiopathic arthritis present?
- Arthritis in >/= 1 joint for >/= 6 weeks (commonly affected joints = hips, knees, and hands)
- Fever for >/= 2 weeks (quotidian pattern in which temp spikes once daily, often in the evening). A pink rash often accompanies the fever.
Hepatosplenomegaly and LAD are also common.
What lab findings are common to find in juvenile idiopathic arthritis?
- leukocytosis
- elevated inflammatory markers
- thrombocytosis
- hyperferritenemia
- anemia of chronic inflammation and iron deficiency
- Rheumatoid factor and antinuclear antibodies are typically negative
What receptors does PCP act on and in what part of the brain? What NT are affected?
- N-methyl-D-aspartate receptors, particularly in the hippocampus and limbic system (causing excitatory and psychotic effects)
- sigma receptor complex (causing psychotic and anticholinergic effects)
- Dopamine, norepinephrine and serotonin receptors (causing adrenergic and dopaminergic effects)
Path and Sx of DiGeorge syndrome
Path: chromosome 22q11.2 deletion -> defective development of pharyngeal pouches
Sx: CATCH:
C: conotruncal cardiac defects (ToF, truncus arteriosus, interrupted aortic arch)
A: abnormal facies
T: thyme hypoplasia/aplasia (T-cell deficiency)
C: craniofacial deformities (cleft palate)
H: hypocalcemia/hypoparathyroidism
What type of acid base disturbance does acute salicylate toxicity cause?
- Leads to respiratory alkalosis by stimulating the respiratory center in the medulla and causing tachypnea
- Then causes an anion gap metabolic acidosis by uncoupling of oxidative phosphorylation in the mitochondria leading to anaerobic metabolism (with resultant low HCO3- from acid buildup)
What will ABG show in salicylate toxicity?
- Low PaCO2 - due to primary respiratory alkalosis (and respiratory compensation for metabolic acidosis)
- Low HCO3- - due to primary metabolic acidosis (and metabolic compensation for respiratory alkalosis)
- Near normal pH - as the 2 primary acid-base disturbances shift the pH in opposite directions
Sx, Dx, Tx and prognosis of transient synovitis
Sx/patient: age 3-8 with preceding viral illness, afebrile, hip pain, limp, able to bear weight
Dx: normal to mildly elevated WBC count, ESR, CRP, small effusions on ultrasound
Tx: conservative, NSAIDs
Prognosis: full recovery in 1-4 weeks, recurrence uncommon
Most common organisms causing osteomyelitis in healthy children? Empiric Abx therapy?
Organism: staph aureus
Abx: low likelihood of MRSA -> Nafcillin/oxacillin OR cefazolin
High likelihood of MRSA -> clindamycin OR vancomycin
Most common organisms causing osteomyelitis in children with sickle cell disease? Empiric Abx therapy?
Organisms: salmonella spp., staph aureus
Abx: Low likelihood of MRSA -> nafcillin/oxacillin OR cefazolin
High likelihood of MRSA -> clindamycin OR vancomycin (same as healthy children)
PLUS third-generation cephalosporin (ceftriaxone, cefotaxime)
What is the MOA of hydroxyurea? When is it indicated? What is the main side effect?
MOA - increase fetal hemoglobin
Indicated - in patients with frequent pain crises, history of acute chest syndrome, and/or severe symptomatic anemia
Side effect: myelosuppression (neutropenia, anemia, thrombocytopenia)
What positioning relieves pain from spinal stenosis? What position makes it worse?
Lumbar flexion (walking uphill, leaning on cane, walking while leaning forward, leaning on shopping cart) relieves the pain from spinal stenosis; Extension of the lumbar spine further narrows the spinal canal and worsens the symptoms
How is spinal stenosis diagnosed? What is the treatment?
Dx - MRI of spine
Tx - conservative with physical therapy and exercise but can require surgical intervention
How does lumbar disk herniation typically present? What position makes the pain worse?
typically causes acute back pain with unilateral radiation down the sciatic nerve to the foot (sciatica); usually follows an inciting event
Lumbar flexion makes the pain worse
How does theophylline toxicity present?
CNS stimulation (HA, insomnia, seizures), GI disturbances (N/V), and cardiac toxicity (arrhythmia)
What concurrent illnesses and drugs can lead to theophylline toxicity? By what pathway is theophylline metabolized?
cirrhosis, cholestasis, respiratory infections with fever, drugs - cimetidine, ciprofloxacin, erythromycin, calrithromycin, verapamil
Theophylline is metabolized by the cytochrome oxidase system in the liver
What are the cardiac, pulmonary, and endocrine side effects of amiodarone?
Cardiac - sinus bradycardia, heart lock; risk of proarrhythmias: QT prolongation & risk of tornado de pointes
Pulmonary - chronic interstitial pneumonitis (cough, fever, dyspnea, pulmonary infiltrates)
Endocrine: hypothyroidism, hyperthyroidism
What are the GI/hepatic, ocular, derm, and neurologic side effects of amiodarone?
GI/hepatic: elevated transaminases, hepatitis
Ocular: corneal microdeposits, optic neuropathy
Derm: blue-gray skin discoloration
Neurologic: peripheral neuropathy
What organism causes erysipelas and how does it manifest?
Organism: strep pyogenes
Sx: superficial dermis & lymphatics; raised, sharply demarcated edges; rapid spread and onset; fever early in course
What organisms cause non purulent cellulitis and how does it manifest?
Organisms: S pyogenes, MSSA
Sx: deep dermis + subcutaneous fat; flat edges with poor demarcation; indolent (over days); localized (fever later in course)
What organisms cause purulent cellulitis and how does it present?
Organisms: MSSA, MRSA
Sx: purulent drainage; folliculitis: infected hair follicle; furuncles: folliculitis -> dermis -> abscess; carbuncle: multiple furuncles
What tumor type causes hypercalcemia of malignancy via PTHrP? What is the mechanism? What lab values would you see?
Tumor type: squamous cell; renal + bladder; breast + ovarian
Mechanism: PTH mimic
Labs: decreased PTH, increased PTHrP
What tumor type causes hypercalcemia of malignancy via bone metastasis? What is the mechanism? What lab values would you see?
Tumor type: breast, multiple myeloma
Mechanism: increased osteolysis
Labs: decreased PTH and PTHrP, decreased Vitamin D
What tumor type causes hypercalcemia of malignancy via 1,25-dihnydroxyvitamin D? What is the mechanism? What lab values would you see?
Tumor type: lymphoma
Mechanism: increased calcium absorption
Labs: decreased PTH, increased Vitamin D
What analgesics are associated with drug-induced pancreatitis?
acetaminophen, NSAIDs, mesalamine, sulfasalazine, opiates
What antibiotics are associated with drug-induced pancreatitis?
isoniazid, tetracyclines, metronidazole, TMP/SMX
What anti epileptics are associated with drug-induced pancreatitis?
valproic acid, carbamazepine
What antihypertensives are associated with drug-induced pancreatitis?
thiazides, furosemide, enalapril, losartan
What antivirals are associated with drug-induced pancreatitis?
lamivudine, didanosine
What immunosuppressants are associated with drug-induced pancreatitis?
azathioprine, mercaptopurine, corticosteroids
fever, back pain, and focal spinal tenderness suggest what diagnosis? What is the next steps in workup?
vertebral osteomyelitis; next get blood cultures, ESR/CRP, and plain spinal X-rays
What do you expect to see on ESR/CRP lab tests and X-rays for vertebral osteomyelitis? What is the next steps in workup?
elevated ESR/CRP but normal X-rays; MRI -> CT-guided needle aspiration/biopsy
Path, associated conditions, Sx, and Tx of Wernicke encephalopathy
Path: thiamine deficiency
Associated conditions: chronic alcoholism, malnutrition, hyperemesis gravidarum
Sx: encephalopathy, oculomotor dysfunction (horizontal nystagmus, bilateral abducens palsy), postural & gait ataxia
Tx: IV thiamine followed by glucose infusion
How does autoimmune hepatitis present?
Sx:
1. Asymptomatic -> identified by abnormal LFTs
2. Symptomatic -> fatigue, anorexia, nausea, jaundice, can progress to fulminant liver failure +/or cirrhosis
Often associated with other autoimmune disorders
What laboratory findings would you expect in a case of autoimmune hepatitis?
- hepatocellular pattern (increased AST + ALT)
- hypergammaglobulinemia
- elevated autoantibodies (anti-smooth muscle, anti-liver/kidney microsomal type 1m antinuclear)
What would you find on histology of autoimmune hepatitis? What is the treatment?
histology: portal + periportal lymphoplasmacytic infiltration
Tx: prednisone +/- azathioprine
What are risk factors for hepatorenal syndrome?
advanced cirrhosis with portal hypertension and edema
What are precipitating factors for hepatorenal syndrome?
- reduced renal perfusion
- GI bleed, vomiting, sepsis, excessive diuretic use, spontaneous bacterial peritonitis
- reduced glomerular pressure + GFR (NSAID use, which constricts afferent arterioles)
How is hepatorenal syndrome diagnosed?
- renal hypoperfusion
- FeNa < 1% (or urine Na < 10 mEq/L)
- Absence of tubular injury
- No RBC, protein, or granular cast sin urine
- No improvement in renal function with fluids
How is hepatorenal syndrome treated?
- address precipitating factors (eg hypovolemia, anemia, infection)
- Splanchnic vasoconstrictors (midodrine, octreotide, norepinephrine)
- Liver transplantation
Sx, Dx, and Tx of disseminated gonococcal infection
Sx: purulent mono arthritis OR triad of tenosynovitis, dermatitis, migratory polyarthralgia
Dx: Detection of Neisseria gonorrhoeae in urine, cervical, or urethral sample; culture of blood, synovial fluid (less sensitive)
Tx: 3rd gen cephalosporin IV AND oral azithromycin
How would you describe the rash of Lyme disease?
annular macule (erythema migrans)
breath sounds, tactile fremitus, percussion, and mediastinal shift with lung consolidation (lobar pneumonia)?
breath sounds: increased
tactile remits: increased
percussion: dullness
mediastinal shift: none
breath sounds, tactile fremitus, percussion, and mediastinal shift with pleural effusion?
breath sounds: decreased or absent
tactile fremitus: decreased
percussion: dullness
mediastinal shift: away from effusion (if large)
breath sounds, tactile fremitus, percussion, and mediastinal shift with pneumothorax?
breath sounds: decreased or absent
tactile fremitus: decreased
percussion: hyperresonance
mediastinal shift: away from tension pneumothorax
breath sounds, tactile fremitus, percussion, and mediastinal shift with atelectasis (mucus plugging)?
breath sounds: decreased or absent
tactile fremitus: decreased
percussion: dullness
mediastinal shift: toward atelectasis (if large)
What drug would you expect to cause sympathetic nervous system stimulation? What symptoms would you see?
cocaine; tachycardia, pupil dilation, diaphoresis, and tremors
What psych symptoms do you expect to see with cocaine use disorder?
anxiety, irritability, mood wings, panic attacks, grandiosity, impaired judgment, and psychotic symptoms (paranoia, hallucinations)
CVP (right-sided preload), PCWP (left-sided preload), cardiac index (LV output), SVR (after load), and SvO2 in hypovolemic shock?
CVP: decreased PCWP: decreased cardiac index: decreased SVR: increased SvO2: decreased
CVP (right-sided preload), PCWP (left-sided preload), cardiac index (LV output), SVR (after load), and SvO2 in cardiogenic shock?
CVP: increased PCWP: increased cardiac index: decreased SVR: increased SvO2: decreased
CVP (right-sided preload), PCWP (left-sided preload), cardiac index (LV output), SVR (after load), and SvO2 in obstructive shock?
CVP: increased PCWP: decreased cardiac index: decreased SVR: increased SvO2: decreased
CVP (right-sided preload), PCWP (left-sided preload), cardiac index (LV output), SVR (after load), and SvO2 in septic shock?
CVP: decreased PCWP: decreased cardiac index: increased SVR: decreased SvO2: increased
What tumor do those with myasthenia graves commonly have?
thymoma
Risk factors, Sx, Tx, and complications of cryptorchidism?
Risk factors: prematurity, small for gestational age, low birth weight, genetic disorders
Sx: empty, hypo plastic, poorly rugged scrotum or hemiscrotum, +/- inguinal fullness
Tx: orchiopexy before age 1 year
Complications: inguinal hernia, testicular torsion, sub fertility, testicular cancer
Path, cause, Sx, and lab findings of aplastic anemia
Path: bone marrow failure due to hematopoietic stem cell deficiency (CD34+)
Causes: autoimmune, infections (parvo, EBV), drugs, radiation/toxins
Sx: fatigue, weakness, bleeding and bruising, recurrent infections
Labs: pancytopenia; biopsy: hypo cellular bone marrow with fat and stroll cells
What drugs can cause aplastic anemia?
carbamazepine, chloramphenicol, sulfonamides
What ECG findings would you see during an episode of syncope in someone with vasovagal syncope?
bradycardia with sinus arrest
Path, Sx, Dx, and Tx of Sturge-Weber syndrome?
Path: mutation in GNAQ gene
Sx: port-wine stain (trigeminal nerve distribution), leptomeningeal capillary-venous malformation, seizures +/- hemiparesis, intellectual disability, visual field defects, glaucoma
Dx: MRI of the brain with contrast
Tx: laser therapy, anti epileptic drugs, intraocular pressure reduction
Sx of tuberous sclerosis?
seizures, intellectual disability, hypopigmented ash-leaf spots, angiofibromas (molar erythematous papule), and shagreen patches (flesh-colored plaque on the back)
What is the difference between Stevens-Johnson syndrome and toxic epidermal necrolysis?
They are a spectrum of the same disease:
< 10% of body surface area = Stevens-Johnson syndrome
10-30% = SJS/TEN overlap
>30% = TEN
What are the clinical Sx of Stevens-Johnson syndrome/toxic epidermal necrolysis?
- 4-8 days after exposure to trigger (2 days after repeat exposure)
- acute influenza-like prodrome
- rapid-onset erythematous macule, vesicles, bullae
- necrosis and sloughing of epidermis
- mucosal involvement
What are common triggers of SJS/TEN?
Drugs 1. Allopurinol 2. Antibiotics (sulfonamides) 3. Anticonvulsants (carbamazepine, lamotrigine, phenytoin) 4. NSAIDs 5. Sulfasalazine Other 1. Mycoplasma pneumoniae 2. Vaccination 3. Graft-vs-host disease
What is the difference between vaccine strain and wild type varicella?
Vaccine strain = <10 lesions, maculopapular and/or vesicular, mildly contagious
Wild type = > 100 lesions, vesicular in successive crops, highly contagious
Both have an incubation period of 1-3 weeks
When do you administer charcoal in acetaminophen intoxication?
single dose >/= 7.5g (pediatric >/= 150mg/kg) and = 4 hours since ingestion
What do you do after administering charcoal during acetaminophen intoxication?
check acetaminophen levels
If acetaminophen levels are above the Rumack-Matthew nomogram line, what is the treatment? What other scenarios would cause you to administer the treatment?
If levels above treatment line in nomogram, >10 micrograms/mL if timing of ingestion is unclear, or any evidence of liver injury:
administer N-acetylcysteine and monitor for liver injury
What are the two congenital causes of primary male hypogonadism?
- Klinefelter syndrome
2. Varicocele
What are the 5 acquired causes of primary male hypogonadism?
- radiation
- infection (mumps)
- trauma
- medications (alkylating agents, glucocorticoids)
- chronic disease
What are the findings expected in primary male hypogonadism?
decreased energy/libido, decreased body hair, gynecomastia, increased LH/FSH, decreased testosterone/sperm count
What is the 1 congenital cause of secondary male hypogonadism?
Kallman syndrome
What are the 2 gonadotropin suppression causes of secondary male hypogonadism?
- hyperprolactinemia
2. glucocorticoids/opiates
What are the 4 gonadotroph cell damage causes of secondary male hypogonadism?
- benign/malignant tumors
- pituitary apoplexy
- infiltration (hemochromatosis),
- systemic disease
What findings are expected with secondary male hypogonadism?
decreased energy/libido, decreased body hair, gynecomastia less likely than primary, decreased or normal LH/FSH, decreased testosterone/sperm count (but not as significantly decreased as primary)
