Uworld12 Flashcards

1
Q

What is Brown-Sequard syndrome?

A

Results from hemisection of the spinal cord.

It is characterized by ipsilateral paralysis due to corticospinal tract injury, ipsilateral loss of vibratory, proprioceptive, and light touch sensation (dorsal columns); and contralateral loss of pain, temp, crude touch sensation (spinothalamic tract) below the level of injury

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2
Q

What is achalasia?

A

is caused by reduced numbers of inhibitory ganglion cells in the esophageal wall.

Esophageal manometry in achalasia shows decreased amplitude of peristalsis in the mid esophagus, with increased tone and incomplete relaxation at the lower esophageal sphincter

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3
Q

MOA of calcineurin inhibitors (pimecrolimus, tacrolimus)

A

works by inhibiting T cell signaling needed to transcribe the proinflammatory cytokine IL-2, thereby decreasing inflammation

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4
Q

What is used for the treatment of atopic dermatitis?

A

Atopic dermatitis is an inflammatory condition that can be treated with calcineurin inhibitors (pimecrolimus, tacrolimus) as second line therapy after topical corticosteroids.

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5
Q

Role of vitamin K

A

Vitamin K is a cofactor for gamma-glutamyl carboxylase, an enzyme that activates coagulation factors II, VII, IX, and X via posttranslational gamma carboxylation.

Intestinal diseases a/w malabsorption (eg, inflammatory bowel disease) are a risk factor for vitamin K def, which typically presents with mucosal bleeding, bruising, and prolonged PT and PTT (if severe)

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6
Q

Most oropharyngeal carcinomas (eg tonsil, base of tongue) are caused by?

A

HPV infection.

HPV 16 and 18 are particularly likely to cause malignant transformation.

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7
Q

What is hypertrophic cardiomyopathy?

A

HCM typically involves interventricular septal hypertrophy that obstructs left ventricular outflow and creates a systolic murmur that decreases in intensity with maneuvers that increase LV blood volume (eg handgrip, passive leg elevation)

Characterized by increased LV muscle mass with a small LV cavity, preserved ejection fraction, and impaired relaxation leading to diastolic dysfunction

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8
Q

Where does isotype switching occur?

A

The primary immune response to a new antigen initially results in plasma cells that produce only IgM.

Isotype switching occurs later in germinal centers and gives B cells the ability to produce antibodies of differing isotypes (IgG, IgA)

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9
Q

Treatment of gonorrhea with coinfection chlamydia

A

Infectious urethritis in men is typically caused by Neisseria gonorrhoae, Chlamydia trachomatis, or mycoplasma genitalium.

Diagnosis is generally made by nucleic acid amplification testing, but microscopy with Gram stain can be used to quickly diagnose gonoccoccal infection.

Patients with gonorrhea and positive or uncertain chlmaydia: ceftriaxone and doxycycline; ceftriaxone alone can be used in those who do not have chlamydia coinfection

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10
Q

What are symptoms of schizophernia?

A

Positive psychotic symptoms: delusions, hallucinations, disorganization

Negative: flat affect (lack of facial expression)

Negative symptoms typically persist between acute psychotic episodes and are more resistant to treatment.

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11
Q

Vasopressin and oxytocin are synthesized where?

A

Vasopressin and oxytocin are synthesized and packaged with carrier proteins (neurophysins) within neurons found in the hypothalamus.

The hormones are then transported down axonal projections to the posterior pituitary (neurohypophysis), where they are secreted into circulation.

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12
Q

What is a fatty streak?

A

Fatty streaks are the earliest lesions of atherosclerosis and can be seen as early as the second decade of life.

They appear as a collection of lipid-laden macrophages (foam cells) in the intima that can eventually progress to atherosclerotic plaques.

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13
Q

What happens to the body after giving intravenous fluids?

A

IV fluids increase the intravascular and left ventricular end-diastolic volumes.

The increase in preload stretches the myocardium and increases the end-diastolic sarcomere length, leading to an increase in stroke volume and cardiac output by the Frank-Starling mechanism

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14
Q

What is seen in lateral medullary infarct (wallenberg syndrome)?

A

-Vertigo (vestibular nucleus)
-loss of pain/temp sensation on the ipsilateral face (trigeminal nucleus)
-contralateral body (spinothalamic tract)
-bulbar weakness (lower cranial nerves)
-ipsilateral horner syndrome (descending sympathetic nervous system fibers)

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15
Q

What does haemophilus influenza require to grow?

A

Haemophilus influenza is a G- coccobacillus that requires both X factor (hematin) and V factor (NAD+) to grow.

H Influenzae type b has an antiphagocytic polysaccharide capsule, which allows it to spread hematogenously and cause invasive disease such as septic arthritis and meningitis.

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16
Q

Multiple sclerosis effect on the bladder

A

Patients with multiple sclerosis often develop a spastic bladder a few weeks after developing an acute lesion of the spinal cord.

These patients present clinically with increased urinary frequency and urge incontinence

Urodynamic studies show the presence of bladder hypertonia.

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17
Q

Acute salicylate toxicity causes?

A

a primary respiratory alkalosis and a primary metabolic acidosis with an anion gap due to increased lactate production.

Symptoms: tinnitus, tachypnea, hyperthermia, vomiting, and altered mental status.

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18
Q

Large pituitary adenomas can cause?

A

bitemporal hemianopnia due to compression of the optic chiasm

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19
Q

The most common hormonally active pituitary tumors are?

A

Prolactinomas; can cause severe hyperprolactineia.

Moderate hyperprolactinemia can also occur in nonprolactinoma tumors because prolactin secretion is under negative regulation by dopamine from the hypothalamus

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20
Q

MOA of mannitol

A

mannitol increases plasma osmolality, leading to the flow of water down its concentration gradient from the intracellular space to the plasma, helping to reduce intracranial pressure.

The resulting plasma expansion also reduces serum sodium levels and increases glomerular filtration/tubular flow.

Mannitol is freely filtered and not reabsorbed by the renal tubules, resulting in a hyperosmolar glomerular filtrate

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21
Q

What is responsible for wound reepithelization?

A

Keratinocytes; they migrate into the wound from its edges and are repopulated by replication within the stratum basale.

Keratinocytes continue to migrate and proliferate until they contact other similar cells, a regulatory mechanism known as contact inhibition

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22
Q

What is acute pituitary hemorrhage (pituitary apoplexy)?

A

severe headache, bitemporal hemianopsia (compression of the optic chasm), and opthalmoplegia (compression of the oculomotor nerve CNIII)

It usually occurs in a preexisting pituitary adenoma.

Pituitary apoplexy is a medical emergency that requires urgent treatment with glucocorticoids to prevent acute adrenal crisis and circulatory collapse.

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23
Q

How does a pericardial effusion present?

A

Acute viral pericarditis is commonly complicated by pericardial effusion.

Classic features of pericardial effusion include tachycardia and ECG: low voltage QRS and electrical alternans.

CXR: enlarged cardiac silhouette with clear lungs

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24
Q

Abruptio placentae is caused by?

A

rupture of maternal vessels at the uteroplacental interface that leads to premature separation of the placenta from the myometrium

Patients typically have painful vaginal bleeding and a tender, firm uterus

Preeclampsia increases the risk of abruptio placentae.

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25
Q

How does congenital hydrocephalus present

A

Often presents with macrocephaly and poor feeding.

Imaging showing enlarged ventricles are diagnostic.

Untreated hydrocephalus leads to developmental delays, poor growth and muscle spasticity (due to stretching of the periventricular pyramidal tracts)

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26
Q

MOA of loperamide

A

an opioid agonist that exerts its antidiarrheal effects by binding to mu opiate receptors in the colonic myenteric plexus, which inhibits acetylcholine release, decreases intestinal smooth muscle activity, and slows peristalsis.

It undergoes high first pass metabolism and does not cross the blood brain barrier, thus avoiding systemic opiate related adverse effects (sedations, respiratory depression)

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27
Q

What is dermatomyositis?

A

proximal muscle weakness resembling polymyositis, with additional inflammatory features affecting the skin (heliotrope rash, Gottron papules).

In both conditions, involvement of striated muscle in the oropharynx and heart can lead to dysphagia, pulmonary aspiration and myocarditis

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28
Q

When does primary spontaneous pneumothorax occur in patients without preexisting pulmonary disease?

A

when a large change in the alveolar or intrapleural pressure results in a break in the visceral (eg, ruptured superficial bleb) pleura and air trapping between the pleural spaces.

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29
Q

Tracheoesophageal fistula with esophageal atresia results from?

A

failure of the primitive foregut to approximately divide into separate trachea and esophageal strictures.

Infants present shortly after birth with excessive secretions and choking/cyanosis during feeds.

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30
Q

What are the physiologic changes in the respiratory system that occur with exercise?

A

-increased minute ventilation (via both an increase in respiratory rate and tidal volume)
-reduced physiologic dead space
-increased ventilation-perfusion ration
-increased extraction of oxygen by skeletal muscle (resulting in decreased mixed venous oxygen content).

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31
Q

What organisms are causes of infection with deficient MAC complex?

A

deficiency of the complement factors that form the membrane attack complex (C5-C9) results in recurrent infections of the lung and meninges by encapsulated bacteria (eg, Strep pneumo, Neisseria meningitdis)

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32
Q

Treatment for acetaminophen overdose?

A

Acetaminophen overdose overwhelms normal metabolic pathways in the liver and depletes intrahepatic glutathione stores, leading to excessive production of N-acetly-p-benzoquinone imini (NAPQI), a toxic metabolite.

Management: N-acetylcysteine, which increases intrahepatic glutathione stores and facilitates NAPQI detoxification

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33
Q

What is mosaicism?

A

presence of multiple, genetically different cell lines within the body.

Can result from several processes, including chromosomal nondisjunction or a mutation during the first stages of embryonic development.

Somatic mosaicism results from a mixture of normal and mutated somatic cells, often leading to a milder form of the disease.

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34
Q

Radial nerve provides sensory innervation to?

A

The skin of the posterior arm, forearm, and dorsal lateral hand and provides motor innervation to all the extensor muscles of the upper limb below the shoulder.

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35
Q

Damage to the proximal radial nerve (at the axilla or mid shaft humerus) results in?

A

wrist drop

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36
Q

what is stress urinary incontinence?

A

involuntary urine leakage with increased intraabdominal pressure (eg, coughing, sneezing).

Pelvic floor muscle (Kegel) exercises target and strengthen the lavator ani muscle complex, improving support around the urethra and bladder and symptoms of stress urinary incontinence.

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37
Q

Patients with sickle cell trait have relative protection from?

A

Patients with sickle cell trait are typically asymptomatic and have relative protection from malaria caused by Plasmodium falciparum.

These patients usually have normal hemoglobin, reticulocyte, and red blood cell index values. Life expectancy is the same as that of the general population

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38
Q

Where does hydroxylation of proline and lysin residues in collagen occur in?

A

The hydroxylation of proline and lysine residues in collagen helps it attain its maximum tensile strength.

This process occurs in the rough endoplasmic reticulum and requires vitamin C as a cofactor.

Impaired collagen synthesis resulting in vitamin C def (scurvy) can lead to fragile vessels, predisposing to gingival bleeding, ecchymosis, and petechia

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39
Q

What can chemotherapy induced nausea and vomitting be treated with?

A

Chemotherapy induced nausea and vomitting is mediated by peripheral and central mechanisms.

It can be treated with serotonin receptor antagonists (eg, ondansetron) to prevent serotonin stimulation of afferent vagal fibers in the bowel wall (peripheral cause) and neurokinin-1 receptor antagonists (eg, aprepitant) to prevent the effects of substance P in the brainstem (central cause).

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40
Q

What is seen in Legionella pneumophilia infection?

A

typically marked by high fever and fatigue followed by significant gastrointestinal, pulmonary, constitutional symptoms.

The organism is not well visualized on Gram stain and does not grow on traditional culture media; L pneumophilia infection is primarily diagnosed by polymerase chain reaction or urine antigen testing

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41
Q

function of chemokine receptor CCR5

A

coreceptor that enables the HIV virus to enter cells.

Blockade of CCR5 by chemokine receptor antagonists prevents viral entry into host cells

42
Q

MOA of rituximab

A

monoclonal antibody directed against CD20, a cell surface receptor on developing and mature B cells.

Binding of rituximab to CD20 results in B cell cytotoxicity and phagocytosis, which reduces the B cell population

43
Q

What happens in the lungs with normal aging?

A

Normal aging is characterized by decreased respiratory system compliance (increased lung compliance outweighed by higher chest wall stiffness) and increased dead space (loss of alveolar surface area).

For this reason, elderly persons are less equipped to tolerate illnesses that impair respiratory compliance and/or gas exchange (eg pneumonia, pulmonary edema)

44
Q

What is delirium vs dementia?

A

Delirium is a reversible, acute-onset confusional state characterized by a fluctuating level of consciousness with deficits in attention, memory, and executive function.

Dementia has a gradual onset, is irreversible, and does not involve fluctuations in the consciousness

45
Q

What is primase?

A

DNA-depedent RNA polymerase that incorporates short RNA primers into replicating DNA

46
Q

What is myotonic dystrophy?

A

muscle weakness and myotonia (impaired muscle relaxation) with muscle atrophy, particularly of the type I (slow twitch) muscle fibers.

Pathophysiology: trinucleotide repeat expansion causing mutant RNA that disrupts muscle contraction and relaxation

47
Q

What happens when leuprolide is administered in a continuous fashion?

A

Leuprolide is a GnRH agonist used to treat symptomatic uterine fibroids (heavy menses, anemia).

When administered in a continuous fashion, leuprolide inhibits the release of endogenous hypothalamic GnRH and down regulates pituitary GnRH receptors, thereby decreasing GnRH, FSH, and estrogen levels (hypogonadotropic hypogonadism)

48
Q

What is the blood supply to the proximal humerus and glenohumeral joint?

A

The proximal humerus and glenohumeral joint receive their blood supply via the anterior and posterior circumflex humeral arteries, which are branches of the axillary artery that form an anastomosis at the neck of the humerus.

Humeral neck fractures can disrupt this blood flow, leading to avascular necrosis of the humeral head

49
Q

What is normal pressure hydrocephalus?

A

Occurs due to decreased cerebrospinal fluid absorption, resulting in ventriculomegaly with normal intracranial pressure.

This causes stretching of the descending cortical fibers (corona radiata) from the frontal lobe and contributes to the classic triad of symptoms (ie, dementia, gait abnormalities, urinary incontinence). Loss of corical inhibition of the sacral micturition center leads to urge incontinence

50
Q

MOA of varenicline

A

a partial agonist of nicotinic acetylcholine receptors. It can help patients stop using tobacco by reducing withdrawal symptoms and attenuating the rewarding effects of nicotine

51
Q

Cholinomimetics are indicated in? Side effects?

A

Indicated in non-obstructive urinary retention, paralytic ileus, and glaucoma.
Their side effects include nausea, vomitting, abdominal cramps, diarrhea, dyspnea and increased secretions (sweating, lacrimation, and salvation)

52
Q

Function of inferior alveolar nerve

A

The inferior alveolar nerve travels within the mandibular canal to provide sensation to the lower teeth and can be injured during dental procedures.

It gives off the mental nerve, which exits through the mental foramen to provide sensation to the chin and lower lip.

53
Q

What changes occur to neurons that has irreversible ischemic injury?

A

Shrinkage of the cell body, pyknosis of the nucleus, loss of Nissl bodies, and cytoplasmic eosinophilia (red neurons)

54
Q

What can be used to treat bipolar disorder?

A

lithium and the anticonvulsants valproate, carbamazepine, and lamotrigine are mood-stabilizing agents used in bipolar disoder

Valproate is commonly used in the treatment of generalized as well as myoclonic seizures

55
Q

What happens to the kidneys with normal aging?

A

-reductions in renal mass and functional glomeruli (ie, reduced glomerular filtration and creatinine clearance)
-decreased renal blood flow
-limited hormonal responsiveness (eg, renin, parathyroid hormone)

56
Q

Function of helicase

A

during DNA replication and repair, helicase mediated the continuous unwinding of double stranded DNA at the replication fork

57
Q

What is the most common cardiovascular manifestation associated with systemic lupus erythematous?

A

Pericarditis; presents with sharp pleuritic chest pain that is relieved by sitting up and leaning forward

58
Q

Loss of testosterone leads to changes in body composition after a bilateral orchiectomy, including?

A

Following bilateral orchiectomy, extragondal androgen sources are inadequate to replace the loss of testosterone, causing a hypogonadal state.

Loss of testosterone leads to decreased lean body weight, increased subcutaneous fat, and decreased bone density and significant decrease in prostate volume.

59
Q

How are long bones formed?

A

Unlike the process of intramembranous ossification that forms flat bones, endochondral ossification proceeds along a cartilage template and is responsible for the formation of long bones.

60
Q

What is achondroplasia?

A

Autosomal dominant; characterized by an exaggerated inhibition of chondrocyte proliferation in the growth plates of long bones and manifests with proximal limb shortening, midface hypoplasia and macrocephaly

61
Q

What is cystinuria?

A

Autosomal recessive disorder caused by defective transportation of cystine, ornithine, arginine, and lysine across the intestinal and renal tubular epithelium.

Recurrent nephrolithiasis is the only clinical manifestation.

Urinalysis shows pathognomonic hexagonal cystine crystals.

62
Q

What is follicular lymphoma?

A

histologically characterized by neoplastic follicles that obscure the normal lymph node architecture.

t(14;18) translocation, which causes overexpression of the antiapoptotic BCL2 protein

63
Q

What is Rett syndrome?

A

loss of speech and motor skills, deceleration of head growth, and sterotypic purposeless hand movements after a period of normal development. It affects mainly girls and is a/w mutations in MECP2 gene

64
Q

What are protective factors for epithelial ovarian cancer?

A

The risk of epithelial ovarian cancer increases with the lifetime number of ovulatory cycles.

Combined oral contraceptive pills, multiparity, and breastfeeding are protecting factors because they suppress ovulation and decrease the lifetime number of ovulatory cycles.

65
Q

What can be seen in epiglottitis?

A

Laryngeal airway obstruction can occur with epiglottitis. It leads to inspiratory stridor due to the dynamic collapse of the larynx during inspiration

66
Q

What can patients with symptomatic von Willebrand disease be treated with?

A

Can be treated with desmopressin (DDAVP), a synthetic antidiuretic hormone analogue that has no vasoconstrictive effects.

DDAVP transiently increases von Willebrand factor and factor VIII release from endothelial cell storage through indirect mechanisms; it can be used prophylactically prior to procedures or to treat minor bleeding

67
Q

MOA of vancomycin

A

binds to the terminal D-alanine-D-alanine in bacterial pentapeptide peptidoglycan subunits, which prevents transpeptidase from binding to the pentapeptide, thereby inhibiting cell wall cross-linking.

Resistance stems primarily from substitution of the terminal D-alanine with D-lactate, which prevents vancomycin binding.

68
Q

What is vaccine reactogenicity?

A

A local (eg warmth, swelling, edema) and systemic (eg fatigue, fever, headache) inflammatory reaction to the vaccine due to the innate immune response. It is primarily caused by pattern recognition receptors present on the surface of macrophages and mast cells, which identify the antigen and release inflammatory cytokines (eg, IL-1, IL-6)

69
Q

Which viruses are capable of genetic shift through reassortment?

A

Viruses with segmented genomes (eg, orthomyxovirus, rotaviruses) are capable of genetic shifts through reassortment.

Reassortment (genetic shift) involves exchange of entire genomic segments, a far more dramatic process than the point mutations responsible for genetic drift.

70
Q

What is the pathogenesis of wheal-and-flare lesions?

A

Wheal-and-flare lesions usually result from allergic (type 1 hypersensitivity) reactions.

On initial exposure, an allergen (eg, insect venom) promotes antibody class switching to IgE.

Subsequent exposure promotes cross linking of IgE on basophils and mast cells, resulting in degranlation and release of multiple vasoactive mediators, including histamine

71
Q

Acid base status in severe diarrhea

A

severe diarrhea causes substantial loss of bicarbonate (HCO3-) in the stool and is a common cause of nonanion gap metabolic acidosis.

Low blood pH (<7.35) and low serum HCO3- (<24 mEq/L) are expected with compensatory low arterial partial pressure of carbon dioxide (PaCO2) (compensatory respiratory alkalosis)

72
Q

What is Hurler syndrome?

A

mucopolysaccharidosis caused by deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate.

Accumulation of these substances results in the characteristics features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly.

Early death due to cardiac complications (eg myocardial infarction) is expected

73
Q

What is gastroschisis?

A

a congenital abdominal wall defect characterized by herniation of uncovered bowel (ie, no covering membrane) located adjacent to the umbilibus. It can be diagnosed on fetal ultrasound, and the condition is a/w abnormally elevated maternal serum alpha-fetoprotein levels

74
Q

Primary tuberculosis infection is marked by?

A

initial unchecked Mycobacterium tuberculosis replication within the alveolar space and alveolar macrophages.

After a few weeks, CD4 lymphocytes are stimulated to release interferon-gamma, which activated macrophages and allows them to destroy the mycobacteria

75
Q

What is achalasia?

A

is caused by loss of inhibitory ganglion cells in the distal esophageal wall and is characterized by the absence of esophageal peristalsis and incomplete relaxation of a hypertonic lower esophageal sphincter.

Botulinum toxin prevents acetylcholine release into the neuromuscular synapse, resulting in inhibition of cholinergic neurons and lower esophageal sphincter relaxation

76
Q

What is the common site of injury in blunt aortic injury?

A

Impacts causing the thorax to rapidly decelerate (eg, high-speed motor vehicle collisions) can result in blunt aortic injury, especially at transitions between relatively mobile and fixed zones.

The most common site of injury is the aortic isthmus, just distal to the attachement of the ligamentum arteriosum

77
Q

Traveler’s diarrhea is most frequently due to?

A

Enterotoxigenic E.coli, which produces plasmid-encoded, heat labile and heat stable enterotoxins.
Heat-labile resembles cholera toxin and activated adenylate cyclase, leading to increased intracellular cyclic AMP; Heat stable activated guanylate cyclase, leading to increased intracellular cyclic GMP.

Both can contribute to watery diarrhea due to loss of water and electrolytes

78
Q

Function of the nucleolus

A

A dense intranuclear body visible by light and electron microscopy that functions as the primary site of ribosome synthesis and assembly.

All ribosomal RNA except 5S rRNA is transcribed in the nucleolus

79
Q

What is the difference between polyclonal antibodies and monoclonal?

A

Plasma contain polyclonal antibodies, a pool of antibodies that bind different epitopes on an antigen.

Monoclonal antibodies bind a single epitope on an antigen. Polyclonal antibodies are often better at neutralizing complex antigens because they contain antibodies that bind several different epitopes

80
Q

What is alkaptonuria?

A

autosomal recessive disorder in which the lack of homogentistic acid dioxygenase blocks the metabolism of tyrosine, leading to an accumulation of homogentisic acid.

Clinical features include a black urine color when exposed to air, a blue-black pigmentation on the face and ochronotic arhtropathy

81
Q

What can be adminstered to pregnant women at risk pf premature delivery to prevent neonatal respiratory distress syndrome?

A

Both maternal and fetal cortisol help to accelerate fetal lung maturation by stimulating surfactant production.

Betamethasone or dexamethasone is administered to pregnant women at risk of premature delivery to prevent neonatal respiratory distress syndrome

82
Q

Most patients who have narcolepsy with cataplexy have undetectable levels of?

A

hypocretin-1 in their CSF fluid.

Hypocretin-1 (orexin-A) and hypocretin-2 (orexin-B) are neuropeptides produced in the lateral hypothalamus that promote wakefulness and inhibit REM sleep-related phenomena

83
Q

Depolarization in action potential results from?

A

The action potential results fro, changes in the membrane permeability to K+ and Na+ ions.

Depolarization results from massive influx of Na through voltage gated Na+ channels

84
Q

Repolarization in the action potential results from?

A

Repolarization occurs due to closure of voltage-gated Na channels and opening of voltage gated K channels.

K+ ion permeance is highest during the repolarization phase of the action potential

85
Q

What is cytomegalovirus retinitis?

A

Cytomegalovirus retinitis is the most common cause of ocular disease in patients with untreated AIDS who have CD4 counts <50/mm3

Diagnosis is made by funduscopy, which typically reveals yellow-white fluffy retinal lesions near the retinal vessels with associated hemorrhage

Treatment with ganciclovir is required to prevent blindness

86
Q

Blunt trauma to the globe can cause orbital blowout fractures. These fractures most commonly involve?

A

The medial and inferior orbital walls due to the thin bone bordering the ethmoid and maxillary sinuses

87
Q

What are risk factors for esophageal adenocarcinoma?

A

Esophageal adenocarinomas usually occurs in the distal esophagus due to underylying Barrert esophagus.

Long standing GERD is the most important risk factor.

Obesity, smoking, use of meds that lower esophageal sphincter pressure, and consumption of foods containing nitroso compounds also increase the risk.

88
Q

What is the initital genetic test for disorders caused by an unknown mutation in a single gene? (eg, Li-Fraumeni syndrome)

A

SIngle gene sequencing. A limitation includes the inability to detect whole gene deletions.

89
Q

What is anaphylaxis?

A

the result of widespread mast cell and basophil degranulation and the release of preformed inflammatory mediators, including histamine and tryptase.

Tryptase is relatively specific to mast cells and can be used as a marker for mast cell activation.

90
Q

What is the function for the high affinity IgE receptors (FceRI)

A

The high affinity IgE receptors (FceRI) is found on the surface of mast cells and basophils and normally binds to the Fc portion of circulating IgE antibodies.

Cross linking of multiple membrane-bound IgE antibodies by a multivalent antigen results in aggregation of the FceRI receptors, causing degranulation and the release of preformed mediators (histamine, tryptase) that initiate an allergic response.

91
Q

What is Mechel diverticulum?

A

Meckel diverticulum, which classicically causes painless hematochezia but can present with acute abdominal pain if inflamed (ie, diverticulitis), is an anatomic connection between the ileum and umbilicus resulting from incomplete obliteration of the vitelline duct.

This congenital anomaly is a true diverticulum, consisting of all 3 layers of the intestinal wall (mucosa, submucosa, and muscularis)

92
Q

What is root cause analysis?

A

a quality improvement measure that identifies what, how, and why a preventable adverse outcome occured. The first step involves collecting data mainly through interviewing multiple individuals involved in the steps leading to the outcome

93
Q

What is pelvic organ prolapse?

A

Pelvic organ prolapse, the herniation of pelvic organs (eg, rectum) into the vagina, occurs due to damage to the levator ani muscle complex. Patients with prolapse of the posterior vaginal wall (ie, rectocele) classically have chronic constipation and a vaginal bulge

94
Q

What is the most common cause of secondary hyperthyroidism?

A

TSH-secreting pituitary adenoma.

In addition to hyperthyroid symptoms, TSH causes generalized hypertrophy of the thyroid gland (diffuse goiter).

Labs: elevated levels of thyroid hormones (T3 and T4) and TSH

95
Q

Traits of Klebsiella

A

encapsulated, lactose fermenting, G- bacillus that appears mucoid in culture.

It causes pneumonia in people with impaired host defenses, especially patients with alcohol use disorder

Klebsiella pneumonia is characterized by tissue necrosis and early abscess formation with production of thick, mucoid, blood tinged sputum (currant jelly sputum)

96
Q

Function of the proximal convoluted tubule?

A

Responsible for reabsorption of bicarbonate as well as glucose, phosphate, potassium, water, and amino acids.

97
Q

Generalized proximal convoluted tubule (PCT) dysfunction (eg, Fanconi syndrome) results in?

A

Urinary loss of glucose, phosphate, potassium, water and amino acids.

Serum chloride rises to maintain electronegative balance from bicarbonate loss and serum glucose remains normal due to intact counterregulatory mechanisms

98
Q

What are some late effects of radiation therapy?

A

Fibrosis and strictures.

Radiotherapy for prostate cancer may lead to urethral fibrosis and result in obstructive uropathy

99
Q

Why can pregnant women develop GERD?

A

Pregnant women often develop GERD due to elevated levels of estrogen and progesterone, which relax the smooth muscle of the lower esophageal sphincter.

Later in pregnancy, GERD can also develop when the gravid uterus presses on the stomach and leads to an altered LES angle or increased gastric pressure.

100
Q

What is DRESS syndrome? Drug reaction with eosinophilia and systemic symptoms

A

Typically occurs 2-8 weeks after exposure to high risk drugs such as anticonvulsants (phenytoin, carbamazepine), allopurinol, sulfonamides (sulfasalazine) and antibiotics (minocycline, vancomycin)

Patients develop fever, generalized lymphadenopathy, facial edema, diffuse skin rash, eosinophilia, and internal organ dysfunction