Quick Associations 2 Flashcards
1
Q
A girl with Turner’s syndrome –> high or low gonadotropin levels (LH & FSH) ?
A
will have high LH & FSH but streak ovaries and therefore need donor oocytes to try to become pregnant
2
Q
Catalase +, Coagulase negative bacteria that cause endocarditis on prosthetic valves
A
Staph. epidermidis (treat with Vanc)
3
Q
Fat cells that contain multiple fat droplets and numerous mitochondria per cell, seen in babies
A
Brown fat – used for heat production! ((the ox phos and ETC in these cells is uncoupled so all energy produced is not made into ATP but instead dissipated as HEAT))
4
Q
What protein is used in brown fat to uncouple the oxidative phos and ETC?
A
Thermogenin
5
Q
Most carcinogens enter the body as pro-carcinogens and are converted to carcinogens by ________________
A
cytochrome P450 Monooxygenase enzymes
6
Q
Why is someone on TPN who had a jejunal resection at increased risk for gallstones?
A
the lack of enteric stimulation –> decreased CCK secretion –> biliary stasis
7
Q
________ in erythrocytes converts CO2 & water into bicarb
A
Carbonic anhydrase
8
Q
temporal arteritis is characterized by what kind of inflammation
A
granulomatous of the media w/ fragmentation of the internal elastic lamina ((treat asap w/ steroids to prevent blindness!))
9
Q
autosomal recessive disorder of tyrosine metabolism that results in a buildup of Homogentistic acid –which turns urine black after sitting out and attaches to collagen making the ears & nose appear blue/black
A
Alkaptonuria (defect of Homogentisate oxidase enzyme) –> in the tyrosine —> Fumarate pathway
10
Q
a defect in phenylalanine –> tyrosine pathway
A
PKU (phe hydorxylase defect)
11
Q
What is the mechanism of methicillin resistance? (ex: MRSA)
A
the bacteria alter the penicillin binding proteins (makes them resistant to all beta - lactams)
12
Q
What is the mechanism of resistance of Staph aureus (non MRSA) to beta lactams?
A
produces beta-lactamase ( an enzyme that degrades the beta lactam ring)
13
Q
Acanthosis nigricans assoc with?
A
Insulin resistance (DM, Obesity, acromegaly) and rarely GI malignancies
14
Q
Why are pregnant women or women on OCP’s more likely to develop gallstones?
A
Estrogen –>increases cholesterol synth & secretion
Progesterone –> slows GB emptying & reduces bile acid secretion
15
Q
CD3 is found on what cells?
A
T cells (needed for T cell receptors) –> anti CD3 antibody drugs can be used to inhibt T cells in acute rejection of kidneys, heart and liver transplants
16
Q
older man who worked in a rubber/textile/ or leather plant for 30 years, now experiencing new onset gross hematuria, serum creatinine is normal
A
transitional cell carcinoma
17
Q
HTN with low plasma renin activity and pt is feeling weakness / paresthesias
A
Primary hyperaldosteronism (normal Na levels due to “aldosterone escape”, low K+ , and high bicarb)
hypokalemia = weakness & paresthesias
18
Q
Side effects of SSRI’s (sertraline, fluoxetine, citalopram, etc…)
A
Sexual dysfunction!
19
Q
Pts with essential fructosuria cannot metabolize Fructose in the normal pathway (via Fructokinase) , but they can still put it into the glycolysis pathway via what enzyme?
A
Hexokinase
20
Q
Pt with hx of hyperlipidemia has severe pain 40-60 minutes after eating, weight loss, pain not relieved by antacids
A
atherosclerosis of the mesenteric arteries –> they can’t dilate in response to incrs blood demand after meals, leading to intestinal ischemia & pain
21
Q
Activation of which enzyme is primarily responsible for the damage done in acute pancreatitis?
A
Trypsin (once activated, it activates other pancreatic enzymes and can auto-activate more trypsin)
22
Q
What is the most common and 2nd most common form of cancer in children?
A
1- Leukemia
2- Brain neoplasms (Pilocytic astrocytoma is most common, Medulloblastomas are 2nd most)
23
Q
Most common location for Pilocytic Astrocytoma
A
mostly in the Cerebellum – looks like a cystic mass with a tumor nodule sticking off of it – pretty good prognosis
24
Q
most common malignant brain tumor in kids, only in the cerebellum (mostly vermis) –> solid with sheets of small round blue cells – poor prognosis
A
Medulloblastoma
25
Anti-gliadin antibodies, loss of intestinal villi
Celiac dz
26
Aldolase B deficiency
causes life threatening hereditary fructose intolerance
27
Vitamin associated with maintaing specialized epithelium (acinar cells, etc...)
Vitamin A
28
Deficiency of this vitamin can cause infertility
Vitamin E
29
Treatment of acute Diphtheria infection
1- Diphtheria antitoxin (passive immunization)
2- Penicillin or Azithro
3- DPT vaccine
30
insomnia, agitation, dysphagia, headaches, coma after cave exploring
Rabies encephalitis
31
Stop codons
UAA, UGA, UAG
32
Type of diabetes associated with DKA
Type 1 (autoimmune)
33
Formula for Renal Plasma Flow (RPF)
Use the Clearance of PAH :
RPF = Urine PAH x Flow / Plasma PAH
34
Formula for Renal BLOOD Flow
RPF / (1 - Hematocrit)
35
Most fluids and solutes are reabsorbed in what part of the nephron?
PCT (fluid is absorbed isosmotically in the PCT --> no concentration or dilution occurs)
36
In a dehydrated state the kidney will concentrate the urine to a max of ___mOsm/L --- but it must put out at least .5 L / day to get rid of metabolic wastes (so will lead to death if you go to long without water)
1200 mOsm/L -- does this via ADH acting on the collecting duct to cause water conservation
37
The ________ of the nephron is impermeable to water
Ascending limb of the loop of Henle & the early distal tubule
38
Pt will 2 month history of weight loss, polydipsia, fruity urine
DKA
low pH
low bicarb -- anion gap metabolic acidosis
low PaCO2 -- resp alkalosis (compensatory)
39
A substance that constricts the efferent arteriole in the glomerulus will have what effect on GFR and Filtration Fraction?
-efferents constricted will INCREASE GFR and decrease RPF therefore -->INCRS FF
FF = GFR / RPF
ex: Angiotensin II would do this
40
ADH acts on what part of the nephron specifically ?
the medullary portion of the collecting duct (it increases the permeability to water by adding porins to the CD)
41
Where is Renin made and secreted and under what circumstances?
the JG apparatus, in response to decreased renal arteriole pressure & increased renal sympathetic discharge (**there are Beta 1 receptors on the JG apparatus!)
42
Mechanism of loop diuretics
inhibit Na-K-2Cl symporters in the thick ascending loop of Henle (essentially cause the excretion of these)
43
Pt presents hyperventilating (resp alkalosis) and then later enters into an anion gap metabolic acidosis
Aspirin overdose -- ASA directly stimulates the breathing center in the brain (low pCO2) and then hours later you get a metabolic acidosis due to the organic acid build up in the blood... (low bicarb)
44
Pt with a tear at the gastro-esophageal junction & history of alcoholism --> what kind of metabolic disturbance is going on?
Mallory-Weiss tears from vomiting --> loss of acid in vomit causes a metabolic alkalosis
45
This substance is filtered, secreted by the PCT, but not reabsorbed -- so the concentration of it rises as it goes throughout the nephron
PAH
46
Which part of the nephron is the primary site of K+ regulation?
the Cortical Collecting Duct
47
Aldosterone acts on the _______ to cause reabsorption of ____ & _____ and loss of ____ & ______
reabsorbs Na+ and water at the expense of K+ and H+
48
ADH (vasopressin) causes an increase in water reabsorption and _____ reabsorption from the PCT
Urea
49
This substance is filtered only, NO reabsorption or secretion
Inulin -- that's why it's used to measure GFR
50
The descending loop of Henle causes the urine to become ______
hyperosmotic (hypertonic) --> it is permeable to water but not solutes so as the loop moves down into the kidney medulla where the interstitium is more concentrated, water leaves the loop --> concentrating the urine
51
Selective proteinuria
Albumin loss without the loss of the 'bulkier' proteins like IgG and macroglobulins
(ex: Minimal change dz)
52
Filtration barrier in the glomerulus is made up of?
1- Fenestrated endothelium of arterioles
2- GBM
3- Epithelial cells (foot processes)
53
What is the main thing keeping Albumin from being filtered
The negative charge on the GBM and foot processes that repel the negatively charged Albumin ((not it's size, it could fit through the slits))
54
Massive proteinuria (> 3.5 gm/day), edema, hyperlipidemia
Nephrotic syndrome
55
Cystic dilations of the medullary collecting ducts in the kidney
Medullary sponge kidney --> pretty benign, cause unknown, can develop hematuria or kidney stones
(stones are # 1 complication )
56
#1 cause of Chronic Renal Failure
Diabetes
57
Hematuria, proteinuria, RBC casts and "hypercellular glomeruli" on microscopy
Post-strep glomerulonephritis
- will have high ASO titers and low C3
- subepithelial humps
- usually after throat or skin infection
58
Anti- GBM antibodies
Goodpastures syndrome --> renal failure, hemoptysis, crescents
59
Calcium oxalate crystals in the urine
Ethylene glycol ingestion (produces an anion gap metabolic acidosis)
60
Renal Clear cell carcinoma originates from what cell type
the PCT cells --> will appear golden/yellow grossly due to high fat content
61
When blood flow is compromised, what parts of the nephron are at most risk for low perfusion
Structures out in the medulla -> the PCT & thick ascending loop of Henle
62
Muddy brown casts in the urine
Acute Tubular Necrosis
63
bilateral flank masses (cysts) at birth or early in life, enlarged kidneys at birth
ARPKD
64
microscopic cysts in kidneys at birth that grow over time, can be clinically silent, some pts have flank pain, HTN, hematuria, renal failure slowly progresses over 10-20 yrs, also at risk for cerebral aneurysms
ADPKD
65
Most common nephrotic in white adults, assoc w/ Solid Tumors, hepatitis B or C, SLE or drugs, shows "spike & dome" appearance & capillary wall thickening
Membranous glomerulopathy -- due to immune complex deposition (IgG)
66
Multiple Myeloma signs & symptoms
Constipation (hypercalcemia)
Renal failure
Anemia (fatigue)
Bone pain (usually back & ribs)
-**Bence-Jones (light chains) & Tamm Horsfall proteins show up as eosinophilic casts (pink on H&E, not eosinophils the cells..)
67
Why do pts with nephrotic syndrome also get hyperlipidemia?
The liver tries to compensate for the massive loss of albumin but can't keep up so it ramps up production of other proteins too (including lipoproteins)
68
A baby born with no kidneys dies 12 hours after birth --> what is the cause of death?
Lung immaturity
-Potters syndrome from bilateral renal agenesis --> oligohydraminos --> no urine output, no lung development in utero
69
diffuse effacement of the foot processes of the glomerulus on EM
Minimal change dz --> treat with corticosteroids
70
linear deposits of IgG & C3 along the GBM
Goodpasture's --> a form of RPGN, will see crescents
71
IgA mediated vasculitis in children after a URI --> abdominal pain, joint pain, palpable purpura, hematuria
Henoch-Schonlein Purpura
72
Types of Rapidly Progressive Glomerulonephritis (all are crescentic)
Type 1 - anti-GBM ab's, (Goodpastures), linear deposits of IgG & C3
Type 2 - immune complex mediated, subepithelial humps (Post-strep glomerulonephritis, SLE, IgA nephropathy or Henoch Schonlein)
Type 3 - 'pauci immune' (no IgG or complement deposis), + ANCA (mostly Wegeners)
73
Patient with colon cancer and new endocarditis, what bacteria ?
Strep. bovis
74
Endocarditis that is culture-negative -- which bacteria?
```
Haemophilus
Actinobacillus
Cardiobacterium
Eikenella
Kingella
```
"HACEK"
75
subacute bacterial endocarditis after dental work
S. viridans
76
Sudden cardiac death right after an MI is most likely caused by _____________
an arrhythmia (most likely V. fib)
77
Trousseau syndrome
migratory thrombophlebitis seen in patients with disseminated cancer (tumor releases pro-coagulants)
78
autosomal recessive long QT syndrome that is associated with neurosensory hearing loss - can lead to sudden death
Jervell & Lange-Nielsen syndrome -- problem with the K+ channels in the ear and cardiac muscle
79
chest pain on exertion relieved by rest, how much of the artery is blocked by plaque?
at least 70% -- stable angina happens when a vessel is > 70% clogged
80
Pt in a MVA with blunt trauma develops sever hypotension, JVD and his systolic BP falls 15 mmHg with each inspiration ...
pulsus paradoxus, hypotension and JVD suggest something constricting the heart --> after a MVA, you should consider cardiac tamponade
81
young child with migratory arthritis 3 weeks after an untreated sore throat --> IF she were to die, what would be the most likely cause?
Myocarditis -- the cause of death if you die from Acute Rheumatic Fever
- assoc with Aschoff bodies & "Anitschkow" cells (caterpillar cells)
82
yellow-brown pigment found in cells of older people, made from lipid peroxidation & free radical injury (common in the heart & liver of aging or sick / malnourished people)
Lipofuscin
83
STEMI in leads II, III & aVF --> which artery is probably occluded?
Right Coronary Artery --- the posteroinferior wall of the heart is usually supplied by the posterior descending branch of the RCA
84
STEMI in leads V1 - V4 , what artery is most likely occluded?
the LAD (anterior /septal region)
85
STEMI in leads V5 - V6 & 1 & aVL, what artery occluded?
lateral circumflex (branch of the LCA)
86
STEMI in V1-V6 and 1 & aVL , which artery?
Left coronary artery (before it branches)
87
In older people (70's & older), what predisposes the aortic valve to calcifications?
Necrosis of the tissue / cell injury (injury -> necrosis -> dystrophic calcifications)
88
congenital defect in the lower interatrial septum is associated mostly with what congenital dz?
Down Syndrome (endocardial suchion defects are common ((like ostium primum ASD))
89
cardiac anomalies associated with DiGeorge syndrome
Tetrology of Fallot or aortic arch defects
90
Hypertrophic cardiomyopathy is associated with a mutation affecting what structures?
the sarcomere proteins (myosin, troponin, etc...)
91
Dilated cardiomyopathies are assoc with mutations affecting what structures?
cytoskeletal proteins
92
most common cause of mitral stenosis
rheumatic heart dz ((usually starts as regurgitation and progresses to stenosis))
93
Kussmaul's sign indicates
constrictive pericarditis (( an increase in JVP upon inspiration ))
94
vegetations on BOTH sides of a valve indicate
non-infectious "Libbman- Sacks" endocarditis --> assoc with Lupus
95
Painless, hemorrhagic macules on the soles & palms
Janeway lesions (septic microemboli assoc with bacterial endocarditis)
96
Painful red lesions on fingers & toes
Osler's nodes (Osler = Ouch!) -- also associated with bac endocarditis
97
chest pain that is reversible, relieved by nitro, and occurs at rest
UNstable angina (ST depression to just endocardial ischemia)
98
Angina that involves coronary vasospasm
Prinzmetal's angina (ST elevation due to transmural ischemia)
99
mainstay of treatment fot heart failure
ACE inhibitors
100
heart defect associated with fetal alcohol syndrome
VSD
101
heart defect assoc with maternal diabetes
Transposition of the great arteries
102
caused by molecular mimicry of the bacterial M protein (which mimics a lot of human proteins)
Acute rheumatic fever
103
low voltage EKG with diminished QRS amplitude
Restrictive cardiomyopathy
104
most common adult primary heart tumor
Myxoma , "pedunculated mass" in the left atrium , benign
105
most common childhood primary heart tumor
Rhabdomyoma, benign hamartoma, assoc with Tuberous Sclerosis
106
prognosis of colorectal carcinoma is mainky determined by ___
stage (not grade)
107
benign hypopigmented patches caused by the fungus Malassezia furfur
Tinea versicolor -- KOH prep reveals "spaghetti & meatballs" appearance on light microscopy
108
Homeobox genes (Hox genes) code for what kind of proteins ?
transcription factors -- play a role in morphogenesis
109
apical displacement of the tricuspid valve, atrialization of the right ventricle and huge right atrium
Ebstein's anomaly -- assoc with Lithium use
110
child w/ fever, dysphagia, drooling, anxious, dyspnea , inspiratory stridor
Epiglottitis --- could be prevented with the Haemophilis influenza type b vaccine
111
Hepatic encephalopathy will cause a decrease of _____ & ______ in the brain
alpha-ketoglutarate and glutamate , which inhibits the kreb cycle (glutamine accumulates causing astrocyte swelling)
112
Hand flapping in a pt with cirrhosis and testicular atrophy
asterixis
113
where are steroid hormones made (which organelle)?
Smooth ER
114
drug that inhibits the synthesis of guanine and is used for Hepatitis C and RSV
Ribavirin
115
defect in Fibroblast growth factor 3 (FGF3) will cause
achondroplastic dwarfism
116
secreted by parafollicular C-cells in the thyroid in response to high blood calcium
Calcitonin
117
what happens to c-peptide after it is cleaved from pro-insulin in the pancreatic B-cell golgi?
it is packaged in secretory granules and secreted in equimolor concentrations with insulin ((it is used to distinguish Type 1 from type 2 diabetes b/c it represents the amount of insulin you have))
118
In the migration of neural crest cells to the intestine, which segment will recieve innervation last in development?
the rectum ((the NCCs migrate caudally --> so the rectum is always the last to get them and is always involved if the baby has Hirschsprung's))
119
African american female with hilar adenopathy, pulmonary infiltrates and non caseating granulomas
Sarcoidosis --driven by TH1 cells, IL-2 & IFN-gamma (which stimulate more TH1 and macrophages)
120
drug of choice for treating trigeminal neuralgia (tic douloureux)
Carbamazepine (reduces Na+ channel recovery and therby reduces neuronal firing)
121
child w/ large tonsils, cannot isotype switch antibodies
Hyper IgM syndrome
122
Fungal infection strongly assoc with DKA
Mucormycosis
123
Most dangerous side effect of Amphotericin B
Nephrotoxicity --- decreases GFR and also directly toxic to tubules (can lead to hypokalemia and arrhythmias)-- also look out for hypomagnesemia
124
Side effects of ACE inhibitors
```
Cough -- most common
Angioedema -- life threatening*
Proteinuria
Taste changes
HypOtension
Fetal renal damage
Rash
incrs Renin
Low AG II
HypERkalemia
```
125
Type of bias that occurs when the investigator's decision is affected by prior knowledge of the exposure status
Observer bias
126
Post-strep glomerulonephritis is an example of a Type ______ hypersensitivity reaction
Type III --Immune complex mediated
127
Side effects of Mannitol (an osmotic diuretic)
Pulmonary edema, dehydration
-pulmonary edema is caused by the rapid rise in plasma volume due to the drug pulling water out of cells and reducing intracranial pressure
128
IV acyclovir can cause crystalline nephropathy -- but can be prevented by ____
adequate hydration (fluids!!)
129
Spironolactone can increase overall survival from CHF how??
antagonizes aldosterone and aldosterone is known to cause ventricular remodeling and cardiac fibrosis in CHF patients
130
Which population should receive reduced doses of renally cleared medications to prevent toxicity?
the elderly --- there is a decrease in renal clearance / function as we age (be aware that there is not always a concomiant increase in Creatinine in elderly b/c as their renal function is decreasing , so is their muscle mass...)
131
the loss of E-cadherin is associated with ______
cancer metastasis ---> E-cadherin helps cells stay together
132
what is Calcineurin?
a protein in T cells that is needed for the activation of IL-2 --> growth of T-cells
133
dz in which ceramide trihexoside accumulates in tissues--> leading to dark red rash btw umbilicus & knees (angiokeratomas), neuropathic pain & and renal failure
Fabry's disease
134
man with recurrent kidney stones, besides hydration, what drug can help prevent recurrances?
HCTZ --thiazide diuretics decrease renal Calcium excretion
135
Calcineurin (T-cell) inhibitors used to prevent graft rejection
Cyclosporine & Tacrolimus
136
drug of choice for acute CHF -- b/c they provide maximun diuresis in shortest amount of time
Loop diuretics
137
IBD that involves only the colon / rectum, has mucosal/submucosal inflammation, main symptom is bloody diarrhea
Ulcerative Colitis
138
Which vitamin has been shown to improve the outcome of measles?
Vitamin A
139
Bacteria that substitute D-lactate for D-alanine in the formation of the cell wall are resistant to ______
Vancomycin
140
Type II error (Beta)
saying that there is no difference when there really is one (Beta)
141
Power of a study
the probability of seeing the difference when one truly exists (Power = 1 - Beta)
142
findings of a subdural hematoma and bilateral retinal hemorrhages in a baby
Shaken baby syndrome --> report to state protective agency
143
damage to this nerve will result in the loss of the 'knee jerk' patellar reflex
Femoral (L2-4)
144
symptoms of a right sided colon mass
usually an exophytic mass --> anemia (from bleeding), fatigue/ pallor, anorexia, malaise, weight loss...
145
symptoms of a left sided colon mass
tend to infiltrate the wall --> obstruction, tenesmus, ribbon stools, N/V/Constipation..
146
Risk factors for Osteoporosis
```
Smoking
Menopause
Corticosteroids
Physical Inactivity
Caucasians
Low body weight / BMI
Alcohol use
```
147
The receptors for PTH are on _________
Osteoblasts --> which then turn on RANK --> activates osteoclasts to start resorbing bone and increasing serum calcium
148
patient who works around goat wool and develops hemoptysis, wide mediastinum..
Pulmonary Anthrax
149
gram + rods that form "medusa head" colonies and posses an antiphagocytic D-glutamate capsule
Bacillus anthracis
150
gram negative bacteria that have an IgA protease which helps them get into mucosal tissues
Neisseria gon. and menin.
151
Name 2 ANTI-inflammatory cytokines
TGF-beta and IL-10
152
What test differentiates Strep from Staph?
Catalase test (Strep = catalase negative) , (Staph = catalase +)
153
What is the ONLY coagulase + Staph species?
S. aureus
154
Pt has hypothyroidism (w/ low T4 and low TSH) -- is this Primary or Secondary hypothyroidism?
Secondary --> problem is the pituitary
155
pt with schizophrenia -- treatment ?
Olanzapine (or another antipsychotic)
156
Pt gets exposed to Radioactive iodide --> what can you give them to protect their thyroid ?
K+ iodide
157
Senile osteoporosis --> high or low turnover?
Low turnover
- Osteoblasts low
- Osteoclasts normal or high
158
Post-menopausal osteoporosis --> high or low turnover?
High turnover
- osteoblasts & clasts are high
- bone is lost b/c formation can't keep up with absorption
159
What kind of receptors are the T3 & T4 hormone receptors?
nuclear / retinoid X binding to DNA
160
glycine & GABA are _____ neurotransmitters & glutamate is a _________ nt
inhibitory , excitatory
161
Diseases caused by S. aureus preformed EXOTOXIN
1- TSS
2- SSSS
3- Gastroenteritis (food poisoning)
162
1 gram protein or carbohydrate = ___ calories
1 gram fat = ___calories
1 gram ethanol = ___ calories
1 gram protein or carbs = 4 cals
1 gram fat = 9 cals
1 gram ethanol = 7 cals
163
_____________ has a very low infectious dose --> as few as 10 organisms can cause disease (although usually more)
Shigella
- other organisms that can infect at low #'s:
- Campylobacter (500 organisms)
- E. histolytica & Giardia (1 organism)
164
infant w/ vomiting, lethargy, jaundice shortly after beginning breastfeeding
Classic galactosemia (most common form)
- lack of galactose-1-phos uridyl transferase
165
hormone made by cells in the duodenum that increases bicarb secretion from the pancreas
Secretin
-stimulated by acidity (HCL)
166
pathogenic mechanism of Shigella
mucosal invasion
- invades M cells in peyers patches and causes bloody diarrhea
- also releases Shiga toxin --inhibits protein synthesis
167
the best way to determine if a certain gene is being expressed in tissue is to analyze the presence of ______________ by _______ blot
mRNA by Northern blot
(mRNA --> protein) = being expressed
168
What is the best way to destroy Hepatitis A on contaminated fomites or in water?
Boiling for 1 minute
(Hep A is fecal-oral) -- can also use UV light, bleach or chlorination
169
_______ is only capable of infecting when encapsulated with HBsAG
hepatitis D (delta agent)
170
a woman with HepB is most likely to pass it to her baby if she is _______ positive
HBeAg (the envelope)
-HBeAg is a marker of increased infectivity and replication
171
Which enzyme in the TCA cycle has Thiamine as a cofactor?
alpha-ketoglutarate DH
| a-kg to succinyl coA
172
enzyme that is SPECIFIC to the liver that breaks down glycerol
Glycerol kinase
173
alpha- glucosidase deficiency in an infant
Pompe's disease
-glycogen storage dz type 2
- cardiomegaly**
- hepatomegaly
- macroglossia, severe MR
- glycogen accumulates in lysosomes
174
glycogen phosphorylase deficiency in an infant
McArdle's disease
-glycogen storage dz type V
- muscle glycogen phosphorylase defic
- weakness / fatigue when exercise **
- blood lactate levels don't rise after exercise
175
deficiency in Glucose - 6 phosphatase in an infant
von Gierke's disease
- most common glycogen storage dz (Type 1)
- hepatomegaly
- fasting hypoglycemia (seizures)
- hyperuricemia
- hyperlipidemia
176
glycogen debranching enzyme deficiency
Cori's or "forbes' disease
- glycogen storage dz type III
- hepatomegaly
- growth retardation**
- hypoglycemia
- hyperlipidemia
- muscle weakness
177
a tumor in the 3rd part of the duodenum is at risk for penetrating into what vessel?
the SMA
178
pt with severe hypoglycemia but high hepatic intracellular NADH ---> where is the liver getting it's energy?
hypoglycemia in the setting of high NADH = the liver is getting energy from something other than glucose
-Ethanol is an example (alcoholics)
179
What CANNOT use ketone bodies for energy?
RBC's and Hepatocytes
180
LOCAL defense against candida is done by _____ and SYSTEMIC defense is done by ______
Local --> T-cells (ie: HIV pts usually have localized candida)
Systemic --> Neutrophils (neutropenic pts can have systemic)
181
a bleeding ulcer at the posterior duodenal bulb is most likely to penetrate what artery?
gastroduodenal artery
182
delta - aminolevulinic acid is elevated in patients with _______
lead poisoning
| and Pyridoxal phosphate is a necessary cofactor for it so it also elevated
183
technitium -99 scan shows the presence of __________
ectopic gastric epithelium
| will help identify Meckel's diverticulum which often has ectopic gastric mucosa
184
which part of the intestine is the main site of Lipid absorption?
JEJUNUM
185
psoriasis can be associated with
deforming joint disease (psoriatic arthritis)
186
BRAF mutation (w/ Valine 600 replaced by glutamate) is seen in patients with ______
Melanoma
187
a chronic inflammatory skin condition associated w/ several environmental factors (foods, irritants..), intensely pruritic & associated with asthma & allergic rhinitis
Atopic Dermatitis (aka "Eczema')
- cannot be diagnosed unless itchy!
- Eczema + Allergic Rhinitis + Asthma = the "Allergic Triad"
188
histological changes seen in Urticaria
dermal edema + dilated lymphatics (no changes in epidermis)
189
most common site for bullae of Pemphigus vulgaris
Mouth / mucosal surfaces
-Bullous pemphigoid spares the mouth/ mucosa
190
axillary lymph node dissection after mastectomy predisposes you to chronic lymphedema & development of ________
angiosarcoma (Stewart-Treves syndrome)
191
What is Vitiligo?
autoimmune destruction of melanocytes
192
Most common sites of fracture in osteoporosis
1- vertebral crush fractures
2-femoral neck
3- Colle's fracture (distal radius)
193
Achondroplasia inheritance pattern
Autosomal dominant activating mutation of FGFR3 --(but most are sporadic mutations)
194
increased Alk phos in bone disease (ie: Paget's) indicates_______
increased osteoblast activity
195
soap bubble tumor of the epiphysis
Giant Cell tumor (osteoclastoma) -- benign
196
11:22 translocation
Ewing's Sarcoma -- small round blue cell tumors, in diaphysis of long bones, malignant
197
autoantibodies to ribonucleoproteins (SS-A and SS-B)
Sjogren's syndrome
198
Anti-Jo-1 antibodies
Dermatomyositis / Polymyositis
199
drugs highly associated w/ SJS
Bactrim, Dilantin
200
'sawtooth' infiltrate of lymphocytes at the dermal/epidermal junction , this dz also highly assoc w/ Hep C
Lichen planus
201
S-100 tumor marker
Melanoma
202
drugs that end in '-dronate'
block osteoclasts
| bisphosphonates used for Paget's, osteoporosis, hypercalcemia
203
unique toxicity side effect of bisphosphonates
osteonecrosis of the jaw, and esophagitis
204
landmark for doing a pudendal nerve block
ischial spines
205
What can be used to treat the side effects of Myasthenia gravis drugs (like pyridostigmine)?
-diarrhea, nausea, sweating, cramping...
Pyridostigmine is a cholinesterase inhibitor (leading to increased Ach effects throughout the body)
-you can use an antimuscarinic agent like Scopolamine --> it treats only the side effects & doesn't counter -stigmine's effects on muscle b/c the muscle receptors are nicotinic cholinergic and Scopolomine blocks the muscarinic receptors only....
206
what nerve supplies the gluteus medius & minimus?
Superior gluteal n
207
test you must perform on your patient before starting them on any TNF-alpha inhibitors
PPD skin test (check for latent TB that could become reactivated)
- TNF-a inhibitors:
- etanercept, infliximab & adalimumab
208
what is the primary abnormality in Paget's dz of the bone?
Osteoclasts-- bone resorption
209
inheritance pattern of Osteogenesis imperfecta?
Autosomal dominant
210
plasma protein that binds free Hb to prevent it's renal excretion
Haptoglobin
-decrs in hemolytic anemias
211
young african american child with bilateral swollen & painful hands & feet
Dactylitis (a result of of sickle cell disease seen in young children)
212
Hydralazine & Procainamide are metabolized in the liver by________
phase II - N acetylation
| slow-acetylators develop Lupus like syndrome more often
213
anti-centromere antibodies are specific for
CREST syndrome
- Scl-70 AB's are specific for systemic Scleroderma
214
drugs that are more __________ are preferentially processed in the liver (rather than kidney)
Lipophilic / good CNS penetration / high Vd
215
infant with testes but underdeveloped external male genetalia...which enzyme is deficient?
5-alpha-reductase
| can't convert testosterone ---> DHT
216
man with tinnitus & vertigo is found to have bilateral acoustic schwannomas ---> a mutation on chromosome ____ is likely
Auto. dom. mutation of NF-2 tumor suppressor gene on chromosome 22 (codes for 'merlin' protein)
-bilateral acoustic schwannomas are classic in NF-2 (Central neurofibromatosis)
217
renal cysts, hemangioblastomas of the cerebellum, bilateral renal cell carcinoma...
VHL -- mutation on chromosome 3
218
prolactin is under tonic suppression by ______ from the ________
Dopamine from the hypothalamus
219
what is the best initial treatment for extreme hypoglycemia
IM shot of glucagon in an emergency
| IV dextrose once you get to hospital
220
drug for isolated systolic HTN with main side effect of peripheral edema (ankle swelling) and flushing
Amlodipine
221
what does the mutation in CF actually do to the CFTR protein?
the Phe deletion causes abnormal post-translational processing so it never even gets to the cell surface -- it gets degraded
222
Symptoms of Vitamin E deficiency
degeneration of dorsal columns, peripheral nerves, cerebellar tracts..
-mimics Friedrich ataxia
223
long-branched lipids that contain about 90 carbons--- in a bacterial cell
Mycolic acid in Mycobacterium (what makes them "acid fast")
224
rupture of a berry aneurysm causes a ___________ hemorrhage
subarachnoid hemorrhage
225
after starting this HTN drug, you can expect the patient's serum creatinine to increase by up to 30%
ACE inhibitors -- b/c they prevent AgII from constricting the efferent arteriole, therby decreasing GFR
226
serotonin releasing neurons are ONLY found in the ____________
Raphe nuclei of the brainstem (axons then project all over the CNS releasing Serotonin)
227
urine draining from the umbillicus of a neonate suggests persistant __________
patent urachus / allantois remnant
228
meconium draining from the umbillicus of a neonate indicates persistant ________
yolk sac / vitelline duct
229
Apolipoprotein E4 is associated with ______
late onset Alzheimer's
230
mood stabilizers
Lithium, Valproate, Carbamazepine
231
the shortest acting benzodiazepine -- to prevent excessive fatigue
Triazolam or alprazolam
232
failure of neural crest cells to migrate to the truncal and bulbar ridges of the truncus arteriosus and the bulbus cordis can lead to ____, _____ or _______
- Tetrology of Fallot
- Truncus Arteriosus
- Transposition of the Great Vessels
233
too rapid correction of hyponatremia can cause _________
osmotic demyelination syndrome (central pontine myelinolysis) --> spastic quadriplegia
234
if the sup. laryngeal nerve is damaged in thyroid surgery --> what muscle will lose innervation?
Cricothyroid muscle
| recurrent laryngeal n. supplies all the other larynx muscles
235
drugs that are associated with fat redistribution from extremities to trunk
HIV protease inhibitors and long-term glucocorticoid use
236
a common complication of venous stasis/ varicose veins
venous stasis ulcers (usually on the medial malleolus)
237
a woman with significantly increased amniotic fluid --> baby is at risk for _____
anencephaly or GI obstruction (decrs fetal swallowing)
238
elevated acetylcholinesterase and AFP in amniotic fluid __________
neural tube defects
239
______ is believed to increase Insulin resistance in overweight people
increased Free fatty acids & Trigs
240
serous fluid collects within the tunica vaginalis
Hydrocele
241
most common cause of fetal hydronephrosis
inadequate recanalization of the ureteropelvic junction (junction of kidney & ureter)
242
this vitamin should NOT be taken by pt's on Levodopa b/c it decreases it's effectiveness
B6
243
drugs that can improve both the + and - symptoms of Schizophrenia
Second gen (Atypical) antipsychotics
-it's not typical for "OLd CLOsets to QUietly RISPer from A to Z"
244
what is the RLS in the conversion of Acyclovir to it's active triphosphate form
monophosphorylation by the viral Thymidine Kinase
245
best area on body to measure to get an idea of Insulin resistance
Waist-to-hip ratio (helps determine visceral fat)
246
mechanism of Mifepristone
anti-progestin drug (5X stronger affinity for progesterone receptor than progesterone)
247
mechanism of Phentolamine
alpha blocker
248
Which anti-fungal drugs act against the cell membrane (ergosterol)?
- Amphotericin B
- Nystatin
- Azoles
249
inheritance pattern of G6PD deficiency
X-linked recessive
250
FTA-ABS test is specific for _________
Syphilis
251
Polycythemia vera is associated with a mutation in ______________
Jak 2 - NON receptor tyrosine kinase
252
pt with sickle cell & gross hematuria
renal papillary necrosis
253
paralysis of upward gaze (parinaud syndrome) is characteristic of a _______________ lesion
dorsal midbrain around the pineal gland
254
this drug act to prolong both the PT & PTT time
FondaparinuX
-direct factor Xa inhibitor
(remember b/c factor X is the intersection of the intrinsic & extrinsic pathways so this drug will prolong BOTH PT & PTT)
255
best diet alteration for diabetes improvement
low-calorie (better than low carb)
256
most important risk factor for gastric adenocarcinoma
diet (smoked foods, nitrosamines), blood type A, H. pylori or autoimmune gastritis
(NOT SMOKING)
257
when you have a mitochondrial disease, why are there varying presentations?
Heteroplasmy :a mixture of more than one type of an organellar genome within a cell or individual.
258
pt with MR, night blindness, chronic diarrhea, weakness, ataxia, steatorrhea...
Abetalipoproteinemia
-lack of ApoB-100 & B-48 = can't absorb fat or fat soluble vitamins and all the consequences from that
259
Mechanism of Macrolide antibiotics
| (ie: Erythromycin)
blocks translocation of the amino acid chain on the 50s subunit rRNA ("macroSLIDES")
260
pathogenesis of sickle cell anemia
HbS point mutation in Beta chain (glutamic acid --> valine), low O2 state or dehydration precipitates sickling --the deoxy Hb polymerizes to make sickle shape)
261
what is the function of the poly-A tail
protects the mRNA strand until it gets out of the cell (gets degraded from the poly-A tail and up)
262
function of peptidyl transferase
making the covalent peptide bonds btw amino acids on a growing peptide
263
causes your body to absorb too much iron from the food you eat
Hereditary hemochromatosis
264
drug therapy that you can use for Hepatic encephalopathy
Lactulose
-b/c it renders the ammonia inabsorbable by converting it to ammonium (NH4), and increase transit of bowel content through the gut.
265
ligament that attaches to the cervix and then goes posteriorly
Uterosacral ligament
266
effect of Cushing's ACTH on the adrenal cortex
hyperplasia
267
which structure assists in producing new bone after a fracture (ex: clavicle fx)
The periosteum
-contains the progenitor cells for osteoblasts, chondroblasts and fibroblasts
268
"Hot T-Bone stEAk"
```
IL-1 --- fever
IL-2 -- stimulates T cells
IL-3 -- stimulates bone marrow
IL-4 -- stimulates IgE
IL-5 -- stimulates IgA
```
IL-8 -- recruits neutrophils (clean up on 'aisle 8')
269
What is the most likely explanation for prolonged, ABX resistant colonization of a CF patient w/ Pseudomonas
the Pyocyanin toxin made by Pseudomonas...
270
virulence factor of N. gonorrhea
pili, opa proteins
271
function of Neuraminidase inhibitors
block the function of the viral neuraminidase protein, thus preventing the virus from reproducing by budding from the host cell.
272
which interleukin is also called 'osteoclast activating factor' and is involved in bone resorption
IL-1
273
Bence-Jones proteins
multiple myeloma
274
most grave effect of Metformin overdose
Lactic acidosis
275
which tissue proliferates in a hydatidaform mole?
trophoblastic tissue (what would have become the placenta)
276
What is the most commonly used drug for infertility?
| also used for PCOS
Clomiphene
(SERM) that increases production of gonadotropins by inhibiting negative feedback on the hypothalamus.
277
True or False -- regular menses means regular ovulation
FALSE
-women undergoing anovulation still have (more or less) regular periods. In general, patients only notice that there is a problem once they have started trying to conceive.
278
Effects of a Beta-2 agonist
Smooth muscle relaxation (bronchial dilation, uterine dilation, relaxes GI tract & relaxes detrusor)
279
child dies from mycobacterial infection, had brother who also died from this... what is missing?
INF-gamma receptors (can't call macrophages)
280
mechanism of Cisplatin
crosslinks DNS
| very effective at treating testicular CA
281
child dies from mycobacterial infection, had brother who also died from this... what is missing?
INF-gamma receptors (can't call macrophages)
281
child dies from mycobacterial infection, had brother who also died from this... what is missing?
INF-gamma receptors (can't call macrophages)
282
mechanism of Cisplatin
crosslinks DNS
| very effective at treating testicular CA
282
mechanism of Cisplatin
crosslinks DNS
| very effective at treating testicular CA
