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UWorld Flashcards > Stuff I've Missed :) > Flashcards

Stuff I've Missed :) Flashcards

1
Q

Arsenic Poisoning

A

MoA: Binds to sulfhydryl groups and disrupts cellular respiration & gluconeogenesis
inhibits pyruvate dehydrogenase

Sources: pesticides, insecticides
contaminated water (wells)
pressure-treated wood

Manifestations: garlic breath, vomiting, watery diarrhea, QTc prolongation ACUTE

hypo/hyperpigmentation, hyperkeratosis, stocking-glove neuropathy CHRONIC

Tx: DIMERCAPROL or DMSA

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2
Q

Parvovirus B19 and Erythema Infectiosum

A

single-stranded DNA virus

causes: malaise, congestion, headache, fever that is followed by an erythmatous rash on the cheeks (“slapped cheek”)

A lacy reticular rash follows, spreading over trunk and extremities

Parvovirus B19 replicates in erythrocyte precursors in bone marrow

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3
Q

Clonidine

A

Used in Tx of severe or refractory HTN

MoA: exerts effects on HR and BP by stimulating presynaptic alpha-2 adrenergic receptors in rostral ventrolateral medulla

-> results in decrease in presynaptic release of NE and decreased sympathetic outflow causing both BRADYcardia and a decrease in PVC

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4
Q

HER2 (ERBB2)

A

overexpressed in 20%-30% of breast cancers

HER2 is a transmembrane glycoprotein with TYROSINE KINASE activity that active to INCREASE cell proliferation

in breast cancer, HER2 overepxression is associated with poorly differentiated rapidly growing tumors

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5
Q

HPV and SCC

A

HPV produces oncoproteins E6 and E7

E6 –> binds to p53, tumor supressor that normally inhibits proliferation of cells with genetic abnormalities
–> causes ubiquination of p53 which induces its degradation

E7 –> binds to RB protein which results in displacement of E2F – promoting unregulated DNA replication and cyclin-mediated cell cycling

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6
Q

Alternative RNA Splicing

A

Process where exons of a gene are reconnected in multiple ways during post-transcriptional processing

Creates different mRNA sequences and different protein forms –> normal phenomenon in eukaryotes that greatly increases the biodiversity of proteins encoded by the genome

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7
Q

Rett Syndrome

A

X-linked recessive

Affects females (males die in utero)

presents in early childhood with progressive neurodegeneration and stereotypical hand movements

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8
Q

Alkaptonuria

A

Autosomal Recessive

Deficiency of homogentisic Acid Dioxygenase – enzyme involved in tyrosine metabolsim

Excess homogentisic acid causes diffuse blue-black deposits in connective tissues

Adults – sclerae and ear cartilage hyperpigmentation along with osteoarthropathy of the spine and large joints

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9
Q

Homocystinuria

A

Due to autosomal recessive mutation causing cystathionine synthase deficiency

Clinically: optic lens dislocation, intellectual disability, marfanoid habitus, thromboembolic complications

Dx: INCREASED plasma and urinary homocystine levels

Tx: Pyridoxine (B6) administration
dietary methionine restriction and cysteine supplementation

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10
Q

Homeobox Genes

A

highly conserved DNA sequence that is usually about 180 nucleotides long

These genes typically code for TRANSCRIPTION FACTORS that bind to regulatory regions on DNA – alter expression of genes involved in the segmental organization of the embryo

encode DNA-binding transcription factors that play an important role in segmental organization of the embryo along the cranio-caudal axis

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11
Q

Thoracic Outlet Syndrome

A

most commonly occurs due to compression of the brachial plexus within the scalene triangle which is formed by the anterior and middle scalenes and first rib

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12
Q

Shiga and Shiga-like toxin

A

inactivate the 60s ribosomal subunit in human cells, leading to an inhibition of protein synthesis and eventual cell death

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13
Q

RB protein

A

regulator of the G1/S checkpoint

active form (dephosphorylated) and inactive (phosphorylated) forms

when phosphorylated, it is inactive and will allow cells to progress from G1/S to S

When dephosphorylated, it is active and will stop the cell from dividing – allows cell to enter a quiescent phase (G0)

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14
Q

Fibular neck injury

A

The common peroneal nerve is the most frequently injured nerve in the leg due to its superficial location as it courses laterally around the neck of the fibula

Injury to common peroneal nerve –> loss of dorsal foot sensation as well as impaired dorsiflexion and eversion resulting in foot drop

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15
Q

Heteroplasmy

A

Responsible for the variability in presentation of mitochondrial diseases

some cells will contain mitochondria w/ mostly damaged mtDNA

some cells will contain mitochondria with mostly normal mtDNA

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16
Q

Hereditary Nonpolyposis Colon Cancer (HNPCC) or Lynch Syndrome

A

autosomal dominant

colon cancer at a young age (<50) – family history reveals high incidence of colon cancer and extraintestinal (e.g. endometrial) cancers in first-degree relatives

Inherited mutation in genes responsible for DNA mismatch repair – MSH2 and MLH1 primarily

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17
Q

Pyruvate Dehydrogenase Complex

A

Mitochondrial enzyme complex linking glycolysis and TCA cycle

Contains 3 enzymes requiring 5 cofactors:

1) Thiamine (B1)
2) Lipoic Acid
3) CoA (B5, pantothenic acid)
4) FAD (B2, riboflavin)
5) NAD+ (B3, Niacin)

Activated by: INCREASED NAD+/NADH ratio, INCREASED ADP, INCREASED Ca2+

cofactor mnemonic: The Lovely Coenzyme For Nerds

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18
Q

Pyruvate Dehydrogenase Complex Deficiency

A

Causes buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT), X-linked

Findings: neurologic defects, lactic acidosis, increased serum alanine starting in infancy

Tx: increased intake of ketogenic nutrients (eg, high fat content or increased lysine and leucine)

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19
Q

Ornithine Transcarbamylase Deficiency

A

Most common urea cycle disorder
X-linked Recessive

interferes with body’s ability to eliminate ammonia – often evident in first few days of life

Excess carbamoyl phosphate is converted to orotic acid (part of pyrimidine synthesis pathway)

Findings: increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia
NO megaloblastic anemia

20
Q

Abetalipoproteinemia

A

Autosomal Recessive

Mutation in gene that encodes microsomal transfer protein (MTP) –> Chylomicrons, VLDL, LDL absent

Deficiency in ApoB-48, ApoB-100

Affected infants: present with severe fat malabsorption, steatorrhea, failure to thrive

Later manifestations include retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis

Intestinal biopsy shows lipid-laden enterocytes

Tx: restriction of long-chain fatty acids, large doses of oral Vitamin E

21
Q

Alcohol-based Disinfectants

A

Kill vegetative bacteria (not spores), fungus, and envoloped viruses by dissolving their lipid bilayer membranes and subsequently denaturing their proteins

(nonenveloped viruses such as: adenovirus, rhinovirus, enterovirus, and poliovirus are less susceptible)

22
Q

Benign Prostatic Hyperplasia Tx

A

5-alpha reductase inhibitors (eg, finasterid, dutasteride) block the conversion of testosterone to dihydrotestosterone in the prostate

these drugs reduce the prostate volume in pt’s with BPH and relieve the fixed component of bladder outlet obstruction

23
Q

PDE5 Inhibitors

A

Sildenafil, tadalafil

first-line agents for treatment of erectile dysfunction – PDE5 inhibitors increases activity of cGMP leading to greater and more prolonged tumescence in men with ED

Can also inhibit PDE6 in retina – pt’s experience a bluish discoloration to vision

24
Q

Trisomy 18 (Edward’s Syndrome)

A

features: micrognathia, low-set ears, prominent occiput, rocker bottom feet
- significant hypertonia: clenched hands and overlapping fingers
- cardiac anomalies (VSD, PDA), genitourinary (horseshoe kidney), and GI (meckel’s diverticulum, malrotation)

prenatal US in utero shows fetal growth restriction

25
Q

Stress Hyperglycemia

A

Transiently elevated blood glucose level in context of severe illness in pt’s without preexisting diabetes mellitus

MoA: Severe metabolic stress is assoc with increased production of cortisol, catecholamines, (epi and NE), glucagon, and proinflammatory cytokines (IL-1, IL-6, TNF-alpha)

These act on the liver to increase glycogenolysis and gluconeogenesis – stimulating release of glucose from the liver into the blood

26
Q

Von Hipperl-Lindau diseas

A

Autosomal Dominant

Mutation in VHL tumor suppressor gene on chr. 3

Manifestations: Cerebellar and retinal hemangioblastomas, Pheochromocytoma, and RCC (clear cell subtype)

Management: surveillance for assoc malignancies

  • Eye/retinal exam
  • plasma or urine metanephrines
  • MRI of the brain and spine
  • MRI of the abdomen
27
Q

Metalloproteinases

A

Participate in many physiologic processes, such as tissue remodeling and embryogenesis

Facilitate the BASEMENT MEMBRANE PENETRATION that distinguishes an invasive tumor rom carcinoma in situ

28
Q

Ataxia-Telangiectasia

A

autosomal recessive disorder

Results from defective DNA break repair – classic findings include cerebellar ataxia, telangiectasias, and recurrent sinopulmonary infections

29
Q

DRESS (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
Sulfa drugs (sulfasalazine)
antibiotics (minocycline, vancomycin)

Findings: pt’s develop fever, generalized LAD, facial edema, diffuse skin rash, eosinophilia, and internal organ dysfxn

30
Q

Fibromyalgia

A

occurs most commonly in women age 20-55 and presents with diffuse MSK pain, fatigue, and neuropsychiatric sx (paresthesias, poor sleep, depression, difficulty concentrating)

Characterized by abnormal processing of painful stimuli

Aerobic exercise at increasing intervals can help these pt’s

31
Q

PVT TIM HALL (essential amino acids)

A

repeat them in your head or look them up you idiot

32
Q

Glucogenic (we MET HIS VALentine)

A

methionine, histidine, valine

33
Q

Ketogenic (onLy the L’s)

A

Leucine, Lysine

34
Q

Both ketogenic and glucogenic (“Both are IPTT”)

A

Isoleucine, Phenylalanine, Threonine, Tryptophan

35
Q

Basic (HIS LYS ARe BASIC)

A

Histidine, Lysine, Arginine

36
Q

Maple Syrup Urine Dz (I Love Vermont MAPLE SYRUP)

A

blocked degradation of BRANCHED amino acids

Isoleucine
Leucine
Valine

37
Q

Envelope shaped stones

A

Calcium Oxalate Stones

Pt abuses ethylene glycol
VitC abuse
Can occur in Crohn’s disease

38
Q

Wedge shaped prism

A

Calcium phosphate stone

39
Q

Coffin Lid shaped

A

Ammonium magnesium phosphate stone

from urease(+) bacteria

40
Q

Romboid shaped

A

Uric Acid stone

41
Q

hexagonal shaped

A

cystine stone

inherited

42
Q

P450 Inducers

A 
barbiturates
phenytoin
rifampin
carbamazepine
griseofulvin
chronic alcohol consumption
43
Q

P450 inhibitors

A 
isoniazid
cimetidine
macrolides
metronidazole
Amiodarone
azole antifungals
grapefruit juice
44
Q

NSAID-exacerbated respiratory disease

A

dysregulation of arachidonic acid metabolism due to COX inhibition

increased diversion of arachidonic acid down the 5-lipoxygenase pathway leads to increased formation of leukotrienes (C4, D4, E4) which stimulate bronchoconstriction and increased vascular permeability

Tx: leukotriene-receptor antagonists (montelukast, zafirlukast)
and 5-lipoxygenase inhibitors (zileuton)

45
Q

Treatment for Hepatic

Encephalopathy

A

Lactulose is useful in treating hepatic encephalopathy b/c it acidifies the contents of the GI tract – converting NH3 into NH4+

46
Q

Recurrent Laryngeal N muscle innervations

A

Innervate all the intrinsic muscles of the larynx EXCEPT the cricothyroid

i.e., posterior and lateral cricoarytenoids, oblique and transverse arytenoids, and thyroarytenoid

UWorld Flashcards (1 decks)

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