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7/14 Flashcards

1
Q

what is nondisjunction

A

failure of chromosome pairs to separate properly during division.

failure of homologous chromosomes to separate during meiosis 1:
mom giving 24; the extra one is DIFFERENT
this is where 2 X’s go into one cell and 0 X’s in another

failure of sister chromatids to separate during meiosis 2 or mitosis:
mom giving 24; the extra one is IDENTICAL
this is where both I’s of the same X go into once circle

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2
Q

what is 1st vs zero order kinetics

A

1st order:
a constant proportion of drug is metabolized per unit of time
the amount metabolized changes based on the serum concentration- increases as the dosing is increased

zero order:
constant amount of drug is metabolized per unit of time
independent of serum levels- rate does not increase with increasing dose (you’ve saturated your converting enzyme)

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3
Q

what are the cells in Graft vs Host disease

A

Graft T cell sensitization against host MHC antigens

donor T cells from the graft migrate to host tissues, recognize host MHC antigens as foreign, and activate CD4 and CD8 T cells to destroy host cells.

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4
Q

what should you think if they give Marfan’s sounding story but you’re supposed to go somewhere else

A

Homocystinuria

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5
Q

what is structurally similar to bisphosphonates

A

pyrophosphate

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6
Q

what do bisphosphonates do

A

disrupt osteoclast function by attaching to hydroxyappetite binding sites on the bony surfaces

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7
Q

what’s the mutation in sickle cell

A

valine replaces glutamic acid in 6th position of the beta-globin chain of Hb

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8
Q

what do miRNAs and siRNAs do

A

they’re small, noncoding RNA molecules that post-transcriptionally regulate protein expression.

they degrade or inactivate target mRNA, which leads to decreased translation into proteins

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9
Q

what is Ehlers Danlos pathophysiology

A

defect in Type 3 collagen synthesis, giving you hyper-flexible joints and skin with easy bruising/scarring

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10
Q

what are the collagen types matched with

A

Type 1 = bONE
(defect in osteogenesis imperfecta)

Type 2 = carTWOlage

Type 3 = “threE D” Reticulin, blood vessels
(Ehlers Danlos and easy bruising)

Type 4 = “under the floor” basement membranes, basement lamina, and lens

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11
Q

where are ribosomes made

A

nucleolus, the really dense circular area inside the nucleus

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12
Q

what is the urachus

A

remnant of the allantois that connects the bladder with the yolk sac during fetal development

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13
Q

what happens if the urachus does not obliterate at birth

A

patent urachus, which can facilitate discharge of urine from the umbilicus

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14
Q

what is Leukocyte Adhesion Deficiency

A

decreased expression of neutrophil cell-surface adhesion proteins, beta-2 integrins

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15
Q

how does LAD present

A

neutrophils fail to migrate towards infected sites

there’s delayed separation of the umbilical cord, omphalitis, and leukocytosis!!

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16
Q

what is Meckel diverticulum

A

failure of obliteration of the Vitelline duct.

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17
Q

how does tricuspid regurgitation present

A

a holosystolic murmur that increases with inspiration

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18
Q

what happens to the heart during inspiration

A

intrathoracic pressure drops,
so more blood returns to the heart

RV stroke volume increases (more venous return)

the drop in intrathoracic pressure also increases pulmonary vessel capacity,
leading to a transient decrease in LV venous return.

as a result, a Tricuspid regurg murmur would increase in intensity during inspiration
(MR or VSD would decrease/stay the same)

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19
Q

what can kill cels with decreased or absent MHC class I proteins on their surfaces

A

Natural Killer cells

virus-infected or tumor cells lack MHC class I

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20
Q

what specifically do NK cells express and not express

A

Do not express:
CD4, CD8, or CD3

Do express:
CD16, CD56

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21
Q

what is special about NK cells

A

do not require thymus for maturation, and they’re present in a-thymic patients

have no antigen-specific activities

do not require exposure to antigen for activation

do no possess antigen memory ability

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22
Q

what are NK cells activated by

A

Interferon-gamma and IL-12

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23
Q

how do NK cells function to kill other cells

A

they are large lymphoid cells that have perforin granules, which produce holes in target cell membranes; and granzymes, which induce target cell apoptosis

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24
Q

how do you treat ADHD

A

stimulants

they increase availability of NE and DA and block reuptake at synapses

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25
how does Fragile X present
CCG repeats on FMR1 gene eXtra large jaw, ears, face, and macroorchidism, maybe not noticeable until puberty mild intellectual disability
26
how does fetal alcohol syndrome present
facial dysmorphisms: short palpebral fissures (eyes) indistinct philtrum (nose-lip groove) thin vermillion border (upper lip) poor growth
27
how does Klinefelter syndrome present
47 XXY Males ``` tall gynecomastia female hips female hair distribution small, firm testes (Cryptorchidism) mild intellectual disability ``` decreased testosterone by fibrotic testes causes infertility
28
what is group A strep's major virulence factor
Protein M it inhibits phagocytosis and complement activation, mediates bacterial adherence, and is the target of type-specific humoral immunity to Strep pyogenes (Hyaluronic acid is on Strep pyo's capsule and cannot be distinguished from humans, so it cannot be immunogenic)
29
what is Plummer Vinson Syndrome
Iron deficiency anemia plus esophageal webs/dysphagia and a shiny red tongue 2/2 papillae atrophy "imagine a spider under your sink licking (tongue) the pipes (iron/metal)"
30
what are 2 weird findings with Iron deficiency anemia
koilonychia (spoon shaped nails) | shiny red tongue
31
what artery is the primary blood supply of the femoral head and neck
medial femoral circumflex artery and its branches
32
how does Meckel Diverticulum present
spontaneous but painless lower GI bleeding Tc-pertechnetate localizes ectopic gastric mucosa, and its increased uptake is diagnostic for Meckel diverticulum
33
what drug the main COD overdose
opioids | including prescription and Heroin
34
why do you give an infant the conjugated pneumococcal vaccine versus the polysaccharide?
pneumococcal conjugate vaccines: strongly immunogenic in infancy due to both B and T cell recruitment they give higher, longer-lasting Antibody titers Polysaccharide vaccine: poorly immunogenic in infants because of their relatively immature humor antibody response
35
when is the annular ligament injured
during radial head subluxation this results form sudden traction on the outstretched and pronated arm of a child (hold hands) children are fine until you try to move their elbow
36
which ligament is commonly injured during throwing
ulnar collateral ligament due to intense valgus stress at the elbow tx is "tommy john" surgery
37
What is Ataxia Telangiectasia
defect in ATM gene, causing failure to repair DNA double strand breaks ``` findings: high AFP low IgA (and others) lymphopenia cerebellar atrophy ```
38
how does Ataxia Telangiectasia present
Triad of A's for the ATM gene: ``` Ataxia (cerebellar defects) Angiomas (telangiectasia) IgA deficiency (recurrent infection) ```
39
what is Leukocyte Adhesion Deficiency
defect in LFA-1 integrin (CD18) protein on phagocytes impaired migration and chemotaxis Findings: persistent leukocytosis/neutrophilia (they're floating in the blood and can't hang out and wait to be activated) absent neutrophils at infection sites
40
how does Leukocyte adhesion deficiency present
``` persistent leukocytosis recurrent infections NO PUS formation impaired wound healing delayed separation of umbilical cord ```
41
what is Chediak Higashi syndrome
defect in Lysosomal Trafficking regulator gene (LYST) microtubule dysfunction in phagosome-lysosome fusion findings: giant granules in granulocytes and platelets pancytopenia mild coagulation defects
42
how does Chediak Higashi present
``` "CHINA" Chediak-Higashi Infections (staph and strep) Neuropathy Albinism ```
43
what is Chronic Granulomatous Disease
defect in NADPH oxidase, which decreases ROS (superoxide) and decreases respiratory burst in neutrophils recurrent infections with Catalase (+) organisms findings: abnormal dihydrorhodamine (flow cytometry) test (low green) Nitroblue tetrazolium dye reduction test is negative- the neutrophils won't turn blue "CGD means Cats Gain Dominance"
44
what is Wiskott-Aldrich syndrome
mutation in WAS gene; T cells are unable to recognize actin cytoskeleton findings: low/normal IgG and IgM high IgE and IgA fewer and smaller platelets
45
how does Wiskott-Aldrich syndrome present
"WAX TIE" ``` Wiskott-Aldrich X-linked recessive Thrombocytopenia Infections Eczema ``` ``` low M (upside down W) high IgA and IgE (the 2 vowels that make sense in WAx tiE) ```
46
what's the primary risk factor for Calcium oxalate stones
low urinary citrate causes distal renal tubular acidosis
47
what risk does Crohn disease give you for kidney stones
hyperoxaluria
48
how will osteoporosis present
probably older female with smoking history, prior glucocorticoid use decreased bone strength from low bone mass fragility fracture (minimal trauma) serum PTH, Ca, PO4 are typically NORMAL
49
what are anti-dsDNA antibodies specific for
SLE
50
what are anti-Smith antibodies specific for
SLE
51
what are anti-centromere antibodies specific for
CREST or systemic sclerosis
52
what are anti-mitochondrial antibodies specific for
PBC
53
distinguish DNA Pol 3 from Pol 1
DNA Pol 3: DNA synthesis 3' to 5' exonuclease (proofreading) DNA Pol 1: DNA synthesis 3' to 5' exonuclease ALSO removes RNA primer via 5' to 3' exonuclease and replaces it with DNA
54
what does Syndeham chorea look like
non-rhythmic movements of the hands, feet, and face "unintentional funny faces" sudden changes in voice pitch and volume seen in JONES criteria of Rheumatic Fever
55
what does erythema marginatum look like
faintly erythematous, circular lesions with central clearing that come and go on trunk and extremities seen in JONES criteria of Rheumatic fever
56
what are the pressures of the different heart areas
RA: <5 RV: 25/5 Pulm Artery: 25/10 LA: <10 LV: 120/10 Aorta: 120/80
57
what does Celecoxib do
selective COX-2 inhibitor COX-2 is an enzyme unregulated during inflammation by IL-1 and TNF-alpha. Inhibiting COX-2 then inhibits pro-inflammatory arachidonic acid metabolites no COX-1 activity, so minimal GI toxicity
58
how could you describe an extended-spectrum beta lactamase bacteria
it has genes encoding enzymes that destroy antibiotic beta-lactam rings.. these genes are often located on plasmids, so they can be transferred between organisms and between different species through conjugation. "plasmid with drug resistance gene"
59
what are the side effects of isoniazid
"Injury to Nerves and Hepatocytes"
60
what do anti-histone antibodies indicate
Drug-induced lupus
61
what is the most specific sign for pyelonephritis
WBC casts
62
what does the presence of casts mean
casts indicate hematuria/pyuria is from glomerular or renal tubular origin
63
what do you see in bladder cancer or kidney stones
hematuria, no casts
64
what do you see in acute cystitis
pyuria, no casts bladder = NO CASTS
65
RBC casts are in
glomerulonephritis or malignant HTN glomerular bleeding
66
WBC casts are in
tubulointerstitial inflammation acute pyelonephritis transplant rejection
67
Fatty casts are in
Nephrotic syndrome associated with "Maltese cross" sign
68
Granular casts are in
Acute tubular necrosis AKA Muddy brown casts epithelial cells get casted into the tubule shape
69
Waxy casts are in
End-stage renal disease/ chronic renal failure
70
Hyaline casts are in
nonspecific, can be a normal finding often seen in concentrated urine samples
71
what is seen in Renal Papillary Necrosis
sloughing of necrotic renal papillae leads to gross hematuria and proteinuria ``` SAAD papa with papillary necrosis: Sickle cell Acute pyelonephritis Analgesics (NSAIDs) Diabetes mellitus ```
72
what inheritance pattern is achondroplasia
autosomal dominant
73
what is the achondroplasia mutation
gain-of-function in FGFR3 mutation inhibits chondrocyte proliferation
74
what is schizotypal personality disorder
long-standing pattern of eccentric behavior, odd beliefs, perceptual distortions, and social anxiety despite familiarity (superstitious) Typal = magical Thinking
75
what is schizoid personality disorder
voluntary social withdrawal, limited emotional expression, content with social isolation (vs avoidant) schizoiD = Distant
76
what is schizophrenia, Schizophreniform, Schizoaffective, and Brief Psychotic Disorder
Schizophrenia: psychosis and disturbed behavior/thoughts lasting > 6 months Schizophreniform: lasting 1-6 months "forming into schizophrenia" Schizoaffective: psychosis + (psychosis AND mood) "Affective has And mood" Brief Psychotic Disorder: lasting < 1 month

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