P450 Stuff Flashcards
(310 cards)
1
Q
Substrates of P450
A
Anti epileptics
Theophylline
Warfarin
OCPs
Always think when outdoors.
2
Q
P450 inducers
A
Chronic Alcohol Use St Johns Wort Phenytoin Phenobarbital Nevirapine Rifampin Griseofulvin Carbamazepine
Chronic alcoholics steal phen phen and never refuse greasy carbs
3
Q
P450 Inhibitors
A
Sodium Valproate Isoniazid Cimetidine Ketoconazole Fluconazole Acute alcohol abuse Chloramphenicol Erythromycin Sulfonamides Ciprofloxacin Omeprazole Metronidazole
SICKFACES.COM
4
Q
Red neurons with eosinophilia cytoplasm with pyknotic nuclei
A
24 hours post insult
5
Q
Necrosis and neutrophils present in brain area
A
1-3 days post insult
6
Q
Macrophages (microfilm) present in injured area
A
3-5 days
7
Q
Reactive gliosis and vascular proliferation in injury area
A
1-2 weeks after injury
8
Q
Glial scar
A
2 weeks
9
Q
MUDPILES
A
Methanol Uremia Diabetic ketoacidosis Propylene glycol Iron Tables Lactic acidosis Ethylene glycol Salicylate
10
Q
HARDASS
A
Hyperalimentation Addison RTA Diarrhea Acetazolamide Spironolactone Saline infusion
11
Q
Calcium stones
A
Envelope shape
Calcium oxalate more common
Hypocitrateuria often associated with decreased urine pH
Calcium phosphate: increased pH, low sodium diet, thiazides
12
Q
Ammonium magnesium phosphate crystals
A
Coffin lid
Increased pH
Urease positive bugs
Stag horn calculus
13
Q
Uric acid crystals
A
Decreased pH
Lucent and not visible
Rhomboid or rosettes
Decreased volume, acidic pH
14
Q
Cystine stones
A
Decreased pH
Invisible
Hexagonal
Cystine, ornithine, lysine, arginine malabsorption
15
Q
RCC paraneoplastic syndromes
A
Chromosome 3 PEAR PTHrR EPO ACTH Renin
16
Q
Poly cystic ovarian syndrome
A
Increased LH:FSH ratio Increased androgens from theca interna cells Decreased rate of follicular maturation leading to unruptured follicles and anovulation Enlarged bilateral cystic ovaries Hirsutisum and acne OHIO Oligomenorrhea Hirsutism Infertility Obesity
17
Q
Centriacinar vs panacinar
A
Smoking is centriacinar
A1 antitrypsin is panacinar
18
Q
Small cell carcinoma
A
ACTH Lambert Eaton antibodies SIADH Amplification of myc oncogenes common Cromogranin A and Enolase positive
19
Q
PKU
A
Decreased phenylalanine hydroxylase or tetrahydrobiopterin
NEED TYROSINE
INtellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor
Decrease Phenylalanine and increase tyrosine and supplement THB
20
Q
MSUD
A
Blocked degradation of branched amino acids
Isoleucine, leucine, valine (I love Vermont maple syrup)
Decreased alpha ketoacid dehydrogenase
CNS defects, intellectual disability and death
Treatment: restriction of isoleucine, leucine, valine, thiamine supplementation
21
Q
Alkaptonuria
A
HOmogentisate oxidase in the degradation pathway of tyrosine to fumarate
Blue black connective tissue, ear cartilage, sclerae, urine turns black on exposure to air
22
Q
Homocystinuria defects and symptoms
A
Defects: Cystathionine synthase, decreased affinity of cystathionine synthase pyridoxal phosphate, methionine synthase deficiency
Symptoms: Increased homocysteine, osteoporosis, marfanoid habitus, ocular changes, cardiovascular effects, kyphosis, intellectual disability
23
Q
OTC deficiency
A
Inability to initiate the urea cycle
Increased robotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia
24
Q
Lesch Nyhan syndrome
A
HGPRT - no IMP to GMP
Results in excess uric acid production
Intellectual disability, self multinational, aggression, hyperuricemia, gout, dystopia
25
Type 1 dyslipidemia
Lipoprotein lipase or C2
| Pancreatitis, hepatosplenomegaly and eruptive/pruritic xanthomas
26
Type 2 dyslipidemia
Defective LDL receptor
| Heterozygous have increased cholesterol but the defect is more pronounced in homozygotes
27
Relative risk
Risk of developing disease in exposed group vs unexposed group
28
Attributable risk
Difference in risk between exposed and unexposed (subtract)
29
Number needed to treat
1/absolute risk reduction
30
Number needed to harm
1/Attributable risk
31
Absolute risk reduction
Difference attributable to the intervention as compared to a control
32
Inspiration expiration effect on murmurs
RILE
Right inspiration
Left expiration
33
Atrial septal defect
Osteum segundum - most comment
Osteum primum - rare
Patent foramen ovale - missing tissue
34
Dopamine function
Prolactin decrease
| TSH increase
35
cAMP hormones
```
FSH
LH
ACTH
TSH
CRH
hCG
ADH
MSH
PTH
```
36
cGMP
BNP
ANP
EDRF
37
IP3
```
GnRH
Oxytocin
ADH
TRH
Histamine
Angiotensin II
Gastrin
```
38
Intracellular receptor
```
Progesterone
Estrogen
Testosterone
Cortisol
Aldosterone
T3/T3
Vit D
```
39
RTK
```
IGF
FGF
PDGF
EGF
Insulin
```
40
Nonreceptor tyrosine
```
Prolactin
Immunomodulators
GH
GCSF
Erythropoietin
Thrombopoietin
```
41
MEN 1
Pituitary
Pancreatic endocrine
Parathyroid
42
Men2a
Medullary carcinoma
Pheochromocytoma
Parathyroid
43
Men2B
Medullary carcinoma
Pheochromocytoma
Mucosal neuromas
44
What is the pathway of the direct basal ganglia
```
Come straight into thalamus
Cortex
Striatum
GPI
Thalamus
```
45
Describe indirect basal ganglia pathway
```
Come straight, go externally, N get into thalamus
Cortex
Striatum
GPE
STN
GPI
Thalamus
```
46
What are the different types of primordial kidneys
Pronephros - early, degenerates
Mesonephros - Interim kidney for first trimester
Metanephric mesenchyme - goes to DCT
47
5 alpha reductive is responsible for
Penis and scrotum growth
| Prostate formation
48
Testosterone forms
Seminal vehicle
Epididymis
Ejaculatory duct
Ductus deferents
49
Androgen insensitivty syndrome
Normal appearaning female
Female external genitalia with scant axillary and pubic hair, rudimentary vagina; uterus and Fallopian tubes absent
Increased testosterone, estrogen, and LH
50
Ataxia telangiectasia
ATM gene - failure to repair double stranded DNA breaks
| Ataxia, spider angiomas, IgA deficiency
51
Cancer incidence in men
1. Prostate
2. Lung
3. Colon rectum
52
Cancer mortality in men
1 Lung
2 Prostate
3 Colon/Rectum
53
Cancer incidence women
Breast
Lung
Colon
54
Cancer mortality women
Lung
Breast
Colon
55
Paradoxical splitting means...
Delay aortic valve closure (stenosis, left bundle branch block)
56
Fixed splitting
ASD
57
Wide splitting
Delay of RV emptying: Right bundle branch block or pulmonic stenosis
58
Kawasaki disease
```
Children under 4
CRASH and BURN
Conjunctival injection
Rash
Adenopathyh
Strawberry tongue
Hand foot changes
Fever
```
59
Polyarteritis nodosa
```
Middle aged men
Hep B
Fever and weight loss, malaise, headache
GI: abdominal pain, melena
Trans mural inflammation of the arterial wall with fibrinogen necrosis
Microannurisms
```
60
Buerger disease
Heavy smokers, under 40 years old
Intermittent claudication
Ray aid phenomenon is often present
61
Wagner’s granulomatosis
Resp: Perforation of nasal septum, chronic sinusitis
Lower resp: hemoptysis, cough, dyspnea
Renal: Hematuria, red cell casts
Necrotizing vasculitis, granulomas in lung and upper airway
62
Microscopicc polyngitis
Necrotizing vassculitis commonly involving lungs, kidneys, skin with pauci-immune glomerulonephritis and palpable purport
63
Eosinophilia granulomatosis with polyangitis
Asthma, sinusitis; skin nodules or purpura, peripheral neuropathy
Heart GI or kidneys
64
Enoch schonlein purpura
Skin: Palpable purpura
Arthralgias
GI: abdominal pain
65
Follicular cyst
Unruptured follicle that is associated with hyperestrogenism, endometrial hyperplasia
66
PDH complex cofactors
```
The lovely coenzyme for nerds
Thiamine pyrophosphate
Lipoid acid
CoA
FAD
NAD
```
67
Type 2 dyslipidemia
LDL receptors defective
| Accelerated atherosclorsis, xanthomas, corneal arcus
68
Dysbetalipoproteinemia
ApoE defective
| Premature atherosclerosis, tuberoeruptive xanthomas,, xanthomas striatum palmare
69
Type 4 dyslipidemias
Hepatic overproduction of VLDL
| Hypertriglyceridemia can cause acute pancreatitis
70
What causes the lyric lesions seen in multiple myeloma
Neoplastic plasma cells activate RANK receptor on osteoclasts leading to bone destruction
71
What is the effect of dopamine secreted from the kidney
Natriuresis
| Low doses dilate interlobular arteries, afferent arterioles and efferent arterioles
72
What is acute respiratory distress syndrome caused by?
Sepsis, infection shock, trauma, aspiration, pancreatitis, DIC, hypersensitivity reactions, and drugs
73
Cholesterol stones
Opaque
| Obesity, Crohns, advanced age, estrogen, multi parity, rapid weight loss, NA origin
74
Pigment stones
Black and radiopaque
| Crohn disease, chronic hemolysis, alcoholic cirrhosis, advanced age, biliary infections, total parenteral nutrition
75
TTP mechanism
Inhibition or deficiency of ADAMTS13 (vWF metalloprotease) and decreased degradation of vWF multimers
Neurological, renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia
76
Contents of cavernous sinus
CNIII, IV, V1, VI and occasionally V2 postganglionic sympathetic pupillary fibers en route to orbit all pass through cavernous sinus.
77
Porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency
Uroporphyrin tea colored urine
Cutaneous photosensitivity and hyperpigmentation
Most common porphyria
78
Amyloidosis kidney findings
LM - Congo red stain shows apple green bifringence under polarized light
Kidney is commonly involved in systemic amyloidosis
79
Diabetic glomerulonephropathy findings
LM: Mesangial expansion, GMP thickening, eosinophilia modular glomerulosclerosis
Nonenzymatic glycosylation of GBM means increased permeability
Increased GFR
80
What is minimal change disease findings
LM - normal glomeruli, IF -, EM, effacement in foot process
| Most common cause of nephrotic syndrome in children. Triggered by recent infection, immunization, immune stimulus
81
FSGS
LM - segmental sclerosis and hyalinosis
IF - negative but may be positive for nonspecific focal deposits of IgM, C3, C1
EM - effacement of foot processes similar to minimal change
82
Membranous nephropathy
LM - diffuse thickening of capillary and GBM
IF - granular as a result of immune complex deposition
EM - spike and dome appearance
83
Acute poststreptococcal glomerulonephritis
LM - glomeruli enlarged and hypercellular
IF - granular appearance due to IgG, IgM, and C3 deposition along GBM and mesangium
EM - subepithelial immune complex humps
Most frequently seen in children after group A strep infection
84
Rapidly crescentic glomerulonephritis
Crescent moon shape consisting of fibrin and plasma proteins with glomerular parietal cells, monocytes, and macrophages
Goodpasture syndrome, wegner’s, microscopic polyangitis
85
Diffuse proliferation glomerulonephritis
Often due to SLE or membranoproliferative glomerulonephritis
LM - wire looping
EM - subendothelial and sometimes intramembranous IgG based ICs often with C3 deposition
IF - granular
86
IgA nephropathy
LM - mesangial proliferation
EM - mesangial IC deposits
IF - IgA based IC deposits in mesangium
Renal pathology of Henoch-Schonlein purpura
87
What is Alpert syndrome
Mutation in type 4 collage meaning thinning and splitting of glomerular basement membrane
X dominant
88
Membranoproliferative glomerulonephritis type 1
Type 1 - subendothelial immune complex deposits with granular IF, tram track appearance on PAS stain and H&E stain due to GBM splitting caused by mesangial I growth
Secondary to hep B and C infection
89
Membranoproliferative glomerulonephritis type 2
Dense deposit disease
| Associated with C3 nephrotic factor and persistent compliment activation and decreased C3 levels
90
B5
Pentothenic acid, CoA
| Dematitis enteritis, slope is, adrenal insufficiency
91
B6
Converted to pyridoxal phosphate, a cofactors used in transamination, decarboxylation reactions, glycogen phosphorylase, synthesis of cystationine, heme, niacin, histamine, neurotransmitters including serotonin, epinephrine, norepinephrine, dopamine, GABA
92
What is the effect of TRH on prolactin
Increased
93
Bruton’s agammaglobulinemia
BTK gene defect leading to no B cell maturation
Recurrent bacterial and enteroviral infections after 6 months
Absent B cells in peripheral blood and decreased immunoglobulins
94
Selective IgA deficiency
```
Mostly Asymptomatic
Airway and GI infections
Autoimmune disease
Atopy
Anaphylaxis to IgA containing products
IgA decreased with normal Ig everywhere else
```
95
Common variable immunodeficiency
Defect in B cell differentiation
Increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections
Decreased plasma cells and decreased Ig
96
What is IL12 receptor deficiency?
Decreased Th1 response
Isseminated mycobacterial and fungal infections; may present after administration of BCG vaccine
Decreased IFN-gamma
97
Autosomal dominant hyper IgE (Jobs)
Th17 deficiency due to stat3 mutation impaired recruitment of neutrophils to sites of infection
FATED
Fancies, cold staphylococcal Abscesses, retained primary Teeth, Increased IgE, Dermatological problems
Increased IgE, decreased IFN gamma, increased eosinophils
98
Chronic mucocutaneous candidiasis
T cell dysfunction
Noninvasive Candida infection of skin and mucous membranes
Absent in vitro T cell proliferation in response to candida
99
SCID
IL2 gamma chain defect, adenosine delaminates deficiency
Failure to thrive, diarrhea, thrush, recurrent infections
Decreased T cell receptor excision circles
Absence of thymic shadow, germinal centers, and T cells
100
Hyper IgM syndrome
```
Defect in CD40L on Th cells leading to decreased class switching
Hyper IgM but decreased Ig of any other types
Failure to make germinal centers
```
101
Wiskott Aldrich syndrome
WASp gene mutation; leukocytes and platelets unable to recognize actin cytoskeleton leading to defective antigen presentation
WATER: Wiskott Aldrich, thrombocytopenia, eczema, recurrent infections
Increased Risk of autoimmune disease and malignancy
Decreased IgG and IgM
Increased IgE and IgA
102
Cheddar Higashi syndrome
Defect in lysosomal trafficking regulator gene
Microtubule dysfunction in phagosome-lysosomes fusion; AR
Recurrent progenitor infections by staph and strep, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltration lymphohistiocytosis
103
What is the cause of the lumpy bumpy appearance of poststreptococcal glomerulonephritis
Deposition of IgG, IgM and C3 along the GBM and mesangium
104
What is the cause of diffuse proliferative glomerulonephritis
Subendothelial and sometimes intramembranous IgG based ICs often with C3 deposition
105
What is the appearance of IgA nephropathy?
Mesangial proliferation
Mesangial IC deposits
IgA based immune complex deposits in mesangium
106
Focal segmental glomerulosclerosis leads to deposition of what?
Can be positive for IgM, C3, C1
107
What is stress incontinence
Outlet incompetence leading to leaking with increased intaabdominal pressure, increased risk with obesity, vaginal delivery, prostate surgery
Tx: Pelvic floor muscle strengthening, weight loss, pessaries
108
What is urgency incontinence?
Overactive detrussor leading to leaking with urge to void immediately
Treat with antimuscarinics
109
What is mixed incontinence?
Features of both stress and urgency incontinence
110
What is overflow incontinence?
Incomplete emptying with leak with overfilling
| Increased post void residual on catheterization on ultrasound
111
What are the causes of acute pancreatitis?
```
I GET SMASHED
Idiopathic
Gallstones
Ethanol
Trauma
Steroids
Mumps
Autoimmune disease
Scorpion sting
Hypercalcemia/hyperlipidemia
ERCP
Drugus
```
112
What is the difference between central and nephrogenic DI?
Central - pituitary tumor, autoimmune trauma, surgery, ischemic encephalopathy, idiopathic
Nephrogenic - Hereditary, secondary to hypercalcemia, hypokalemia, lithium, demeclocycline
Central has decreased ADH
113
What is SIADH?
Ectopic ADH
CNS disorders
Pulmonary disease
Drugs
114
Where is coagulative necrosis seen?
Ischemia and infarct in most tissues
115
Where is liquefaction necrosis seen?
Bacterial abscesses and brain infarcts
116
Where is caseous necrosis seen?
TB, systemic fungi, nocardia
117
Where is fibrinoid necrosis seen?
Preeclampsia, immune reactions in vessels, malignant hypertension
118
What is seen in Tay Sachs?
Hexosaminidase A deficiency leading to GM2 buildup
| Neurodegeneration, developmental delay, red macula spot, onion skin lysosomes
119
What occurs in fabry’s disease?
Early: Episodic peripheral neuropathy, angiokeratomas, hypohidrosis
Late: Progressive renal failure, cardiovascular disease
Alpha galactosidase A deficiency leading to ceramide trihexoside
120
What is metachromatic leukodystrophy
Central and peripheral demyelination, with ataxia and dementia
Arylsulfatase A deficiency leading to cerebrospinal sulfate
121
What is seen in Krabbe disease?
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
Galactocereprosidase deficiency leading to increased galactocerebroside
122
Gaucher disease
Hepatosplenomegaly, pancytopenia, osteoporosis, a vascular necrosis of femur, bone crises, Gaucher cells(tissue paper cells)
Glucocerebrosidase deficiency leading to increased glucocerebroside
123
Niemann Pick disease features
Progressive neurodegeneration, hepatosplenomegaly, foam cells, and cherry red spot on macula
Defect in sphingomyelinase leading to increased sphingomyelin
124
What are the features of intravascular and extravascular hemolysis?
Intrinsic: decreased haptoglobin, schistocytes on blood smear, characteristic hemoglobinuria, hemosiderinuria, urobilinogen in urine. May also see increased unconjugated bilirubin
Extrinsic: Macrophages in spleen clear RBCs. Spherocytes in peripheral smear, no hemoglobinuria/hemosiderinuria
125
What is the possibility of homocysteine transformation?
1. Methionine synthase (B12) makes methionine
| 2. Cystathionine synthase uses serine and (B6) makes cystathionine
126
What is dysfunctional in biotin deficiency
Pyruvate carboxylase forming oxaloacetate
AcetylCoA carboxylase forming malonyl CoA
Propionyl CoA forming methylmalonyl CoA
(Dermatitis, alopicia, enteritis)
127
B2 deficiency leads to
ChHeliosis and corneal vascularization
128
What is glucagonoma?
Dermatitis, diabetes, DVT, declining weight, depression
| Treat with octreotide
129
What is Liddle syndrome?
Gain of function mutation
Increased Na reabsorption in collecting tubules resulting in hypertension, hypokalemia, metabolic alkalosis and decreased aldosterone
Presents like hyperaldosteronism
130
What is Gitelman syndrome
Resorptive defect in NaCl in the DCT
Hypokalemia, hypomagnesmia, metabolic alkalosis and hypocalciuria
Similar to using thiazides diuretics
131
What is Bartter syndrome
Resorptive defect in thick ascending loop
NaK2Cl cotransporter
Hypokalemia and metabolic alkalosis with hypercalciuria
132
Franconi syndrome
Resorptive defect in PCT
| Increased excretion of nearly all amino acids, glucose, bicarbonate and phosphate resulting in acidosis
133
McCune Albright
```
McCune abig
Early menarche
Cafe au lait spots
iNcreased estrogen
Aromatase inhibitors
Bone gone wrong
Independent of GnRH
```
134
How are amino acids moved from muscle to the liver
Amino acids added to alpha ketoglutarate to make glutamate which passes NH3 to pyruvate creating alanine which then in the liver combines with alpha ketoglutarate to reform glutamate to enter the urea cycle
135
What dictates cerebral perfusion
Driven by pCO2 unless low O2
136
What are the consequences of renal failure?
```
MAD HUNGER
Metabolic Alkalosis
Dyslipidemia
Hyperkalemia
Uremia
Na+/H2O retention
Growth retardation and developmental delay
Erythropoietin failure
Renal osteodystrophy
```
137
Asbestos
Ship building, roofing, plumbing
Pleural white plaques are pathognomonic of asbestos
Bronchogenic carcinoma first then mesothelioma
Lower lobes affected with inclusions that are shaped like dumbbells
138
Berylliosis
Exposure to beryllium in aerospace and manufacturing industries
Granulomatosis on histology and responsive to steroids
UPPER LOBES
139
Coal workers pneumoconiosis
Prolonged coal dust exposure leads to carbon laiden macrophages
Affects upper lobes
Anthracosis
140
Silicosis
Foundaries, sandblasting
| Eggshell calcification of hilar lymph nodes on CXR
141
Fructose intolerance
AR
Fructose 1 phosphate accumulates from aldolase B deficiency
Depletes phosphate resulting in inhibition of glycogenolysis and gluconeogenesis
Hypoglycemia, jaundice, cirrhosis, vomiting
142
Which areas have both enzymes aldose reductase and sorbitol dehydrogenase
Liver, ovaries, and seminal vesicles have both enzymes
LuRKS Lens retina, kidneys and Schwann cells have only aldose reductase
143
What parts of the brain are affected by Wilson’s disease?
ATP7B gene on chromosome 13 leads to decreased copper excretion and decreased ceruloplasmin
Accumulates in liver Brian cornea and kindest
144
What is galactokinase deficiency
Deficiency in galactokinase leading to galactictitol accumulation if in diet. Mild and AR
Galactose will appear in blood and urine
May cause infantile cataracts
145
What is classic galactosemia?
Galactose1 phosphate uridyltransferase
AR
Accumulation of toxic substances that occurs when infant begins feeding
Failure to thrive, jaundice, hepatomegaly infantile cataracts, intellectual disability
146
Fomepizole vs disulfiram
Fomepizol inhibits ethanol to acetaldehyde
Disulfiram inhibits acetaldehyde dehydrogenase
Disulfiram DIScourages drinking
147
What is the order of things that maintain blood glucose levels
ATP
Creatinine phosphates
Anaerobic metabolism
Aerobic metabolism
148
What is tetrodotoxin
Pufferfish. Binds fast Na+ channels in cardiac/nerve tissue
| Nausea, diarrhea, parasthesias, weakness, dizziness, loss of reflexes
149
What is ciguatoxin
Reef fish such as barracuda, snapper, moray eel
Opens Na+ channels, causing depol
Nausea vomiting, diarrhea; perioral numbness, reversal of hot and cold sensations; bradycardia, heart block, hypotension
150
What is scombroid poisoning
Spoiled dark meat, fish such as tuna, mahi-mahi, mackerel, and bonito
Bacterial histidine decarboxylase converts histidine to histamine
Mimics anaphylaxis: acute burning sensation of mouth, flushing of face, erythema, urticaria, itching
151
What is an odd metastasis of gastric cancers
Virchows node through the involvement of the left supraclavicular node
152
What is the difference between intestinal and diffuse gastric cancer?
Intestinal - lesser curvature, looks like ulcer with raised margins
Diffuse - not associated with H pylori, signet ring cells; stomach wall grossly thickened and leathery
153
Familial adenomatous polyposis
AD mutation in APC tumor suppressor gene on chromosome 5q via 2 hit hypothesis
Thousands of polyps after puberty
154
Gardner syndrome
FAP with issues and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium, impacted/supernumerary teeth
155
Turbot syndrome
FAP + lynch + CNS tumor (medulloblastoma)
| Turcot = turban
156
Peutz Jeghers syndrome
AD syndrome featuring numerous hamartomas throughout GI tract along with hyperpigmented mouth, lips, hands, genitalia
Associated with increased risk of breast and GI cancers
157
Juvenile polyposis syndrome
AD syndrome in children featuring numerous hamartomatous polyps in the colon stomach, and small bowel
158
What are the products of the kinin cascade
Bradykinin is activated by HMWK
| Leads to vasodilation, permeability, and pain
159
What is reactive arthritis
```
Conjunctivitis, urethritis, arthritis
ShYChiCS
Shigella
Yersinia
Chlamydia
Campylobacter
Salmonella
```
160
Nucleus solitaries
Visceral sensory info from VII, IX, X
161
Nucleus aMbiguus
Motor inner action of pharynx, larynx, upper esophagus
| IX, X, XI
162
Dorsal motor nucleus
Autonomic parasympathetic fibers to heart, lungs, upper GI
| Cranial nerve X
163
Frontal eye field lesion
Look away form lesion
164
PPRF lesion
Eyes look away from lesion
165
CN V motor lesion
Jaw deviates toward lesion due to unopposed force from opposite pterygoid muscle
166
CN X lesion
Uvula deviates away from lesion
167
CN IX lesion
Weakness turning head to ocntralateral side of lesion
168
CN XII lesion
LMN lesion leading to tongue deviating toward lesion
169
Kallmann syndrome
Failure to complete puberty; a form of hypogonadotrophic hypogonadism. Defective migration of GnRH releasing neurons and subsequent failure of GnRH releasing olfactory bulbs to develop
Decreased synthesis of GnRH in the hypothalamus; anosmia; decreased GnRH, FSH, LH, testosterone. Infertility
170
Citrate is to _______ as carnitine is to __________
synthesis; metabolism
171
Defect in Osteognesis imperfecta
Decreased type 1 collagen production
172
What are the markers of ALL?
TdT+
12:21
Associated with Down syndrome
173
What are the markers of CLL?
CD20, CD23, CD5
174
Pathomnemonic test for Hairy cell leukemia
TRAP tartrate resistant acid phosphate seems
175
General signs of leukemia’s
Marrow crowding leading to anemia, infections, and hemorrage due to decreased platelets
Possible liver, spleen, skin involvement
176
Type 1 error
Faldo positive error
177
Type 2 error
False negative error
178
Power
1-beta
Increased with sample size
Increased expected effect size
Increased precision measurement
179
What is pseudohypoparathyroidism?
Low calcium despite having high PTH levels. 4th and 5th digits elongated.
Autosomal Dominant
Due to Gs protein alpha-subunit causing end-organ resistance to PTH
180
What is the effect of PTH in terms of osteoblasts and osteoclasts
Increased RANK-L on osteoblasts and osteocytes bind RANK receptor on osteoclasts and their precursors to stimulate osteoclasts and increased bone resorption
181
What is the difference between pseudohypoparathyroidism and pseudo pseudohypoparathyroidism
Pseudohypoparathyroidism - Gs protein alpha subunit defect from mom leading to end organ PTH defect
Pseudopseudo - defective Gs protein alpha subunit from dad
182
Define osteochondroma
Bony Costco’s is with cartilaginous chondroid cap that comes from the epiphyseal plate
183
Define giant cell tumor
Epiphysis of long bone arises at distal femur leading to soap bubble appearance on x-ray
Multinucleated giant cells that express RANKL
184
Osteosarcoma defined
Aggressive sunburst pattern
Cod man triangle on X-ray
Malignant bone tumor
185
What is lipofuchsin?
Yellow burden wear and tear pigment associated with normal aging
Oxidation and polymerization of autophagocytosed organellar membranes
Occurs with age
186
Brain tumors come from....
Lung, breast, melanoma, colon, kidney
187
Liver tumors come from
Colon, stomach, pancreas
188
Bone tumors come from...
Prostate, breast, lung, thyroid, kidney
189
What are Charcot Bouchard microaneurysm?
Chronic hypertension; affects small vessels. Not visible on angiography
Basal ganglia, thalamus
190
First trimester pregnancy screens in a patient with trisomy 13 show
Decreased BHCG, decreased PAPP-A
191
What screening techniques are changed in Edwards syndrome
PAPP-A and BHCG are decreased in first trimester
| Decreased alpha fetoprotein, decreased BHCG, decreased Estriol, decreased inhibin A
192
What is seen on prenatal screening for Down syndrome?
Increased nuchal translucency and hypoplastic nasal bone
Decreased serum PAPP-A, increased B-HCG
```
Second trimester quad screen
decreased alpha fetoprotein
Increased B-HCG
Decreased estriol
Increased inhibin A
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193
What is the HMP shunt limited by?
Glucose 6 p dehydrogenase (irreversible)
194
Maternal diabetes leads to what effect on the fetus?
Caudal regression syndrome, heart defects, neural tube defects, macros omit, neonatal hypoglycemia
195
Cells are frozen in meiosis (1/2) and (prophase/metaphase) until fertilization and are frozen in meiosis (1/2) and (prophase/metaphase) until ovulation.
Meiosis 2; metaphase; meiosis 1; prophase
196
Medicare and Medicaid are for what?
Medicare - old people
| Medicaid - poor
197
What are the parts of Medicare?
A: hospital insurance, home hospice care
B: Basic medical bills
C: Combo delivered by private companies
D: Prescription Drugs
198
What is Ileus?
Intestinal hypomotility without obstruction leading to constipation and decreased flatus; distended/tympanic abdomen with decreased bowel sounds
Associated with abdominal surgeries, opiates, hypokalemia, sepsis
199
What is recombination?
Exchange of genes between 2 chromosomes by crossing over within regions of significant base homology
200
What is reassortment?
Viruses wit segmented genomes exchange material. Potentially can cause antigenic shift
201
What is complimentation?
1-2 viruses that infect the cell has a mutation that results in a nonfunctional protein where one compliments the other one
202
Rotenone
Complex 1 inhibitor
203
Actinomycetes A
Inhibitor of complex III
204
Cyanide
Inhibitor of Complex IV
205
Oligomycin
Inhibitor of ATP production
206
Name the rate limiting step in bile acid synthesis
Cholesterol 7alpha hydroxylase
207
What is the effect of dopamine 1 receptors?
Relax renal vascular smooth muscle, activates direct striatum pathway
GS
208
What is the result of activation of D2 receptors
Modulate transmitter release, especially in brain, inhibits direct pathway of striatum
209
Fenlodopam
D1 activation
Postoperative hypertension, hypertensive crisis.
Vasodilator
Promotes natriuresis. Can cause hypotension and tachycardia
210
Epoprostanol
PGI2 analog
Decreases platelet aggregation
Decreases vascular tone
211
PGE1 analog
Alprostadil
Decrease vascular tone
212
PGE2
Dinoprostone
Increases uterine tone
213
PGF2a analog
Carboprost
Increased uterine tone
214
SHH gene
Produced at base of limbs in zone of polarizing activity. Involved in patterning along anteroposterior axis and CNS development; mutation causes holoprosencephaly
215
Wnt7
Produced at apical ectodermal ridge. Necessary for proper organization along the dorsal ventral axis
216
FGF gene
Apical ectodermal ridge. Stimulates mitosis of underlying mesoderm providing for lengthening of limbs
217
HOX genes
Involved in segmental organization of embryo in a craniocaudal direction. Code for transcription factors. HOX mutations lead to appendages in the wrong locations
218
Extrinsic cell death pathway
Ligand receptor interaction between Fas and FasL or TNF-alpha binding to its receptor
Fas-FasL interaction is necessary in thymic medullary negative selection
Defective interaction cause autoimmune lymphoproliferative syndrome
219
Intrinsic mitochondrial apoptosis pathway
Remodeling in embryogenesis.
Regulated by BCL2 family of proteins
BAX and BAK are proaptoric while BCL2 and BCL-x are antiapoptotic
220
What are the contents of cryoprecipitate
Fibrinogen
8,13
Fibronectin
Coagulation deficiencies
221
What are the genetic mutations involved in adenocarcinoma
KRAS, EGFR, and ALK
222
Cleft lip is caused by
Failure of fusion of maxillary and medial nasal processes
223
Cleft palate is formed by
failure of fusion of two lateral palatine shelves or failure of fusion of lateral palatine shelves with the nasal septum and/or median palatine shelf
224
What is the effect of decreased Mg2+ on parathyroid hormone?
Increased unless Mg2+ is super low. THen it will lead to decreased
225
How does duchenne muscular dystrophy show up on labs?
Increased CK and aldolase are seen; genetic testing confirms diagnosis
226
What is paranoid personality disorder?
Pervasive distrust and suspiciousness of others and a profoundly cynical view of the world
227
What is schizoid personality disorder?
Voluntary social withdrawal (Aloof), limited emotional expression, content with social isolation
228
What is schizotypal personality disorder?
Eccentric appearance, odd beliefs or magical thinking, interpersonal Awkwardness
229
What is antisocial personality disorder?
Disregard for violation of rights of others with lack of remorse, criminality, impulsivity; males more than females; if under 18, conduct disorder
230
What is borderline personality disorder?
Unstable mood and interpersonal relationships, impulsivity, self multinational, suicidality, sense of emptiness, females more than males
231
What is histrionic personality disorder?
Excessive emotionality or excitability, attention seeking, sexually provocative, overly concerned with appearance
232
What is narcissistic personality disorder?
Grandiosity, sense of entitlement; lacks of empathy and requires excessive admiration, often demands the best and reacts to criticism with rage
233
What is avoidant personality disorder?
Hypersensitive to rejection, socially inhibited, timid, feelings of inadequacy, desires relationship with others
234
What is obsessive compulsive personality disorder?
Preoccupation with order perfectionism and control; ego syntonic; behavior consistent with ones own beliefs and attitudes
235
What is dependent personality disorder?
Submissive and clingy, excessive need to be taken care of, low self-confidence
236
What is the difference between schizophrenia and brief psychotic disorder?
Schizophrenia - chronic mental disorder with periods of psychosis, disturbed behavior and thought, and decline in functioning lasting over 6 months
Brief - lasting under 1 month
237
What is schizophreniform?
Schizophrenia lasting 1-6 months
238
What is schizoaffective disorder?
Meets criteria for schizophrenia in addition to major mood disorder. To differentiate from a mood disorder with psychotic features, patient must have more than 2 weeks of hallucinations or delusions without major mood episode
239
What is wet beriberi?
High-output cardiac failure
Edema
240
What is dry beriberi?
Peripheral neuropathy due to demyelination
Symmetrical muscle wasting
No fluid retention
241
What is seen in B2 deficiency?
Cheliosis - inflammation of lips and scaling and fissures at the corners of the mouth
Corneal vascularization
Dry skin
242
What is seen in B3 deficiency?
Glossitis
Severe deficiency leads to pellagra (diarrhea dermatitis dementia)
243
What are the symptoms of excess B3?
Facial flushing
Intrahepatic cholestasis
Hyperglycemia
Hyperuricemia
244
What is pantothenate deficiency?
Dermatitis, enteritis, alopecia and adrenal insufficiency
245
What are the symptoms of B6 deficiency
Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias, cheliosis or stomatitis
246
What are the symptoms of biotin deficiency?
dermatitis, alopecia, enteritis, lactic acidosis
247
What is methemoglobin?
Oxidized form of Hb that does not bind o2 as readily but has increased affinity for cyanide.
May present with cyanosis and chocolate colored blood
248
What is carboxyhemoglobin?
Form Hb bound to CO in place of 02 leading to decreased oxygen binding capacity with left shift in oxygen-hemoglobin dissociation curve and decreased O2 unloading in tissues
249
What is IPEX?
FOXP3 deficiency leading to autoimmunity. CHaracterized by enteropathy, endocrinopathy, nail dystrophy, dermatitis and or other autoimmune dermatological conditions.
250
What are the acute phase reactants?
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Facebook CHAT
Fibrinogen
C reactive proteins
Haptoglobin
Albumin
Transferrin
Serum amyloid A
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251
Macrophage markers
Wannabe T cells (CD4 and CD8)
Neutrophil CD18
Macrophages CD14
252
Natural killer cell marker
Gangster 6angster
CD16
CD56
253
B cell marker
CD19 CD20 CD21
254
What are some common defects seen in Turner syndrome
Cystic hyrgoma; lymphedema in feet, hands, horseshoe kidney
255
how does the lac operon work in conditions of low glucose
Low glucose = decreased adenylate cyclase activity, increased cAMP generation and increased activation of catabolite activator protein leading to increased transcription
256
How does the lac operon operate in instances of high lactose
Unbinding of repressor protein from repressor/operator site leading to increased transcription
257
Which biliary tract disorder is associated with pANCA?
Ulcerative colitis and primary sclerosing cholanigitis
258
What are the neutrophil chemotactic agents
C5a, IL8, LTB4, kallikrein, platelet activating factor
259
Which sections of hemoglobin travel farthest?
A then F, then S, then C
A Fat Santa Claus
260
Common carotid origin
3rd arch
261
Maxillary artery
1st arch
262
Stapedial artery
2nd arch
263
Inhibitors of glycolysis
ATP and citrate
264
Activators of glycolysis
AMP and f26bp
265
Gluconeogenesis activators
Citrate
266
Gluconeogeenesis inhibitors
AMP and F26BP
267
TCA cycle activators
ADP
268
TCA inhibitor
ATP NADH
269
Glycogneeiss activators
Glucose 6 phosphate, insulin, cortisol
270
Glycogenesis inhibitors
Epinephrine, glucagon
271
Glycogenolysis activators
Epinephrine, glucagon, amp
272
Glycogenolysis inhibitors
Glucose 6 phosphate, insulin, AATP
273
HMP shunt activators and inhibitors
Activated by NADP+ and inhibited by NADPH
274
De novo pyramiding synthesis activators
ATP, PRPP
275
Pyramiding synthesis inhibitors
UTP
276
Purine inhibitors
AAMP, IMP, GMP
277
Urea cycle activator
N acetylglutamate
278
Fatty acid synthesis activators
Insulin and citrate
279
Fatty acid synthesis inhibitors
Palmitoyl CoA and glucagon
280
Fatty acid oxidation inhibitor
Malonyl CoA
281
Cholesterol synthesis inhibitor
Glucagon and cholesterol
282
Cholesterol synthesis activator
Insulin and thyroxine
283
Reaction inhibited in alkaptonuria
Homogentisic acid conversion to maleylacetoacetic acid
284
Reaction inhibited in PKU
Phenylalanine conversion to tyrosine
285
Reaction in hibited in albinism
DOPA to melanin
286
A mid shaft fracture of the humerus injures what structures?
Radial nerve and deep brachial artery
287
Distal humerus/cubital fossa injury leads to what structures being compromised?
Median nerve and brachial artery
288
Popliteal fossa injury leads to what nerve and artery injury?
Tibial nerve and popliteal artery
289
Posterior to medial malleolus injury leads to damage to what structures?
Tibial nerve and posterior tibial artery
290
Odansetron
Serotonin 3 antagonist decreases vagal stim and acts as an anti emetic
Can cause serotonin syndrome and long QT
291
What is the therapy for anti-mite/louse therapy
Permethrin (neuronal membrane depolarization via Na+ channels)
Malathion (AHc esterase inhibitor)
Lindane (Blocks GABA channels - neurotoxicity)
292
What is the mnemonic for anti-mite/louse therapy
Treat PML (pesto mites and lice) with PML (Permethrin, Malathion, Lindane), because they NAG (Na, AChE, GABA blockade)
293
What is the use of chloroquine?
Treatment of plasmodium that ISNT P falciparum
| Resistance will be due to membrane pump that decreases intracellular concentrations
294
What do you treat P falciparum with?
Artemether/lumefantrine or atovaquone/progruanil
295
What does IL10 do?
ATENuate the immune response, decrease Class 2 expression and Th1 cytokines
296
What does TGF-B do?
Attenuate the immune response
297
What is the state of FBPase 2 in the fasting state?
Fasting state: Increased glucagon = increased cAMP = increased PKA = increased FBPase2 = decreased PFK2 = less glycolysis and more gluconeogenesis
298
What is the state of fructose 26 bisphosphate in the fed state
Increased insulin = decreased cAMP = decreased PKA - FBPase2 = PFK2 = more glycolysis, less gluconeogenesis
299
Which tissues are glucose independent
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BRICK L
Brain
RBCs
Intestine
Cornea
Kidney
Liver
```
300
Difference between direct and indirect inguinal hernia
Indirect - INternal deep inguinal ring and external inguinal ring INto the scrotum
301
What are the parameters of metabolic acidosis? pH, PCO2, HCO3-
(Metabolic means matched parameter changes)
pH = decreased
PCO2 = decreased
HCO3- = Decreased (primary disturbance)
302
What are the parameters of metabolic alkalosis? pH, PCO2, HCO3-
(Metabolic means matched parameter changes)
pH = Increased
PCO2 = Increased
HCO3- = Increased (Primary disturbance)
303
What are the parameters of respiratory acidosis? pH, PCO2, HCO3-
```
pH = decreased
PCO2 = Increased (primary disturbance)
HCO3- = Increased
```
304
What are the parameters with respiratory alkalosis? pH, PCO2, HCO3-
```
pH = Increased
PCO2 = decreased (primary disturbance)
HCO3- = decreased
```
305
What mechanisms shift K+ into cells?
Hypo-osmolarity
Alkalosis
Beta adrenergic agonist (Increased Na+/K+ ATPase)
Insulin (Increased Na+/K+ ATPase)
306
What shifts K+ out of cell?
```
DO LAbSS
Digitalis (Blocks ATPase)
HyperOsmolarity
Lysis of cells
Acidosis
b-blocker
High Blood sugar
Succinylcholine
```
307
Essential amino acids in the glucogenic group
Methionine, histidine, valine (I met his valentine she is so sweet)
308
Essential amino acids in the ketogenic group?
Leucine, lysine (Lucys lies are key)
309
What are the essential amino acids that are both glucogenic and ketogenic?
```
PITT
Phenylalanine
Isoleucine
Threonine
Tryptophan
```
310
What are the irreversible enzymes of gluconeogenesis?
Pyruvate carboxylase (Biotin)
PEP Carboxykinase
Fructose 1,6 bisphosphatase
Glucose 6 Phosphatase
