Last Set 2 Flashcards
In what gestational week does they thyroid begin to develop?
Embryonic origin?
Third week of gestation
Derived from endoderm from the floor of the primitive pharynx
Hypothyroidism will cause elevation in what labs?
LDL and Total cholesterol
Attributable risk?
(A/ A+B) - (C/ C+D)
Orphan annie eyes
Papillary thyroid cancer
Mutation of papillary thyroid cancer
RET gene mutation
BRAF
Uniform cuboidal cells lining follicles and invading capsule
- spread
- associated with
Follicular thyroid carcinoma
Hematogenously
RAS mutation
PAX8-PPAR gamma 1 rearrangment
Tumor of thyroid
Increased level of calcitonin
Associated with
Mutation
Medullay thyroid carcinoma
Proliferation of parafollicular C cells
RET gene mutation
MEN 2A and MEN2B
What type of cancer in thyroid?
1) Arises from parafollicular C cells
2) RAS mutation or a PAX8-PPARy-1 rearrangment
3) Rearrangement in RET oncogene
4) Mutation in BRAF gene
5) Enlarged thyroid cells with ground-glass nuclei
1) Medullary thyroid carcinoma
2) Follicular thyroid carcinoma
3) Medullary thyroid carcinoma, papillary carcinoma
4) Papillary carcinoma
5) Papillary thyroid cancer
Lipodystrophy
Caused by
Distortions in the structure or function of adipose tissue
Buffalo hump
Leptin deficiency
HIV medication
- Protease inhibitors
Deficient in factor IX
Hemophilia B
Deficient in Factor VIII
hemophilia A
RL step of coagulation pathway
Factor X
Warfarin inhibits
Factor II (thrombin) Factor VII (extrinsic) Factor IX (intrinsic) Factor X Protein C Protein S
What is essential for coagulation cascade
Calcium
Factor XI
Kallikrein
Activates plasminogen –> plasmin (breaks down fibrin mesh)
Produces Bradykinin
Prothrombin time (PT)
Add tissue factor and see how long for clot to form
Test
- Tissue factor pathway
- Final common pathway
Factor VII
Factor X
Factor V
Factor II (prothrombin)
Resported with INR
Partial thromboplastin time (PTT)
25-40 seconds
Taking plasma add material to activate contact activation pathway
Factor XII Factor XI Factor IX Factor VIII Factor X Factor V Factor II (prothrombin)
Hemophilia A and B
- deficiency
- increases
Hemophilia A
- Factor VIII deficiency
Hemophila B
- Factor IX deficiency
Increase PTT
Coagulation disorders vs platelet disorders cause what type of bleeding
Coagulation disorders
- macrohemorrhages
Platelet disorders
- Microhemorrhages
Vit K deficiency
Cofactor for several clotting factors
Factor II, VII, IX, X, C and S
diSCo started in 1972
Increase PT and PTT
Antithrombin deficiency
- resistant to
Hypercoagulable
Unable to inactivate thrombin
Resistant to heparin
Protein C deficiency
Hypercoagulable
Unable to inactivate factor V and VIII
or deficiency in protein S
Which glomerular disease should be suspected most in patients with each of the following findings?
- IF: granular pattern of immune complex deposition; LM; diffuse capillary thickening
- IF: granular pattern of immune complex deposition; LM: hypercellular
- IF: linear pattern of immune complex deposition
- EM: subendothelial humps and “tram track” appearance
- Nephritis, deafness, cataracts
- LM: crescent formation in the glomeruli
- LM: segmetnal sclerosis and hyalinosis
- EM spiking on the GBM due to electron-dense subepthelial deposits
- Membranous GN
Diffuse proliferative GN - Acute post-streptococcal GN
- Goodpasture syndrome
- Membranoproliferative GN
- Alport syndrome
- Rapidly progressive GN
- Focal segmental glomerulosclerossi
- Membranous GN
RBC with uniform spikes all over surface
Burr cell
Echinocyte
Uremia
Renal failure
Pyruvate kinase deficiency
RBC with irregular spikes in size and distribution
Spur cell
Acanthocyte
Abetalipoproteinemia
RBCs looks like bulls eye
Target cells
“HALT” said the hunter to his target
Hemoglobin C disease
Asplenia
Liver disease
Thalassemia
Tear drop RBCs
Myelofibrosis
An 18-year-old woman presents to the emergency department with acute onset of severe abdominal pain. She says she had a similar attack 1 year earlier after taking some barbiturates.
At that time she underwent an exploratory laparotomy, which revealed nothing. The
patient no longer takes barbiturates but recently
started an extremely low-carbohydrate and low-calorie diet. She has a temperature of
37°C (98.6°F), a respiratory rate of 16/min, and a blood pressure of 128/83 mm Hg. Her
WBC count is normal. Laboratory studies reveal a sodium level of 127 mEq/L, and urinalysis
shows increased porphobilinogen levels.
The physician tells the patient that she has a genetic condition involving her RBCs. What
congenital disorder did the physician most likely tell the patient she has?
(A) Acute intermittent porphyria
(B) Fanconi’s anemia
(C) Hereditary spherocytosis
(D) Porphyria cutanea tarda
(E) Sickle cell disease
A. Acute intermittent porphyria
Deficiency in Acute intermittent porphyria
Excess
deficit in uroporphyrinogen 1 synthetase (porphobilinogen deaminase)
Excess δ-aminolevulinate and porphobilinogen in the urine.
Dark red urine
Psychologic disturbances
Polyneuropathy
Abdominal pain
- deficiency
- drug that precipitated
Treatment
Acute intermittent porphyria
Uroporphyrinogen-1 synthase
(porphobilinogen deaminase)
Precipitated by
- Barbiturates
- Seizure durgs
- rifampin
- metoclopramide
Give Heme and Glucose
- down regulates delta-ALA synthase
Sun sensitivity –> blistering
Tea colored urine
Excess hair growth
Hyperpigmentation
- associated with
- increased lab
- deficiency
Porphyria cutanea tarda
Associated with hepatitis C and alcoholism
Increase LFTs
Uroporphyrinogen decarboxylase
AD
Build up uroporphyrinogen III
Abdominal pain Renal failure Mental deterioration Foot/ wrist drop Memory loss
Tx
Lead poisoning
EDTA
Succinmer
Severe poisoning in child
- Dimercaprol + succimer
RL step of Heme synthesis
delta-ALA synthase
Chipmunk face
Hair on end appearance on xray of skull
Target cells
Beta thalassemia Major
Increase Hemoglobin F
2 alpha, 2 gamma
What is the RL step of beta oxidation of fatty acids
Carnitine acyltransferase I
Hypersegmented neutrophila Anemia Glossitis Neurologic deficits Increased homocysteine INcreased MMA
B12 deficiency
Hypersegmented neutrophils
Glossitis
Increased homocysteine
Normal methylmalonic acid
Folate deficiency
Anemia
Increased CMV
Hypersegmented neutrophils Orotic acid in urine
-deficiency
Orotic aciduria
Deficiency of UMP synthase
ADAMTS13
TTP
- Low-molecular-weight heparins (LMWH) are
distinct from unfractionated heparin in several
ways. Which of the following is the primary
target of LMWH?
(A) Antithrombin III
(B) Factor IIa
(C) Factor VII
(D) Factor Xa
(E) Factors II, IX, and X
(D) Factor Xa
LMWH act on Xa
Eczema
Recurrent infections
Thrombocytopenia
Wiskott-aldrich syndrome
Von Willebrand disease
tx
DDAVP
- desmopressin (ADH analog)
ADH increase release of vWF from storage sites in endothelial cells
t (8;14)
Burkitt lymphoma
c-MYC
Starry sky appearance
t(14;18)
Diffuse large B cell lymphoma
-Elderly
Follicular lymphoma
t(11;14)
Mantle cell lymphoma
Disruption of regulation of cyclin D
t(15;17)
tx
M3 AML
Treat w/ all-trans retinoic acid
Rouleaux formation
RBC stacked like coins
MM
Myeloproliferative neoplasma
3 types
mutation
Monclonal proliferation of mature myeloid cells
Types
- polycythemia vera
- essential thrombocytosis
- myelofibrosis
Mutation
- JAK2
Liver metastasis
“Cancer Sometime Penetrates Benign Liver”
Colon Stomach Pancreas Breast Lung
Colon»_space; stomach > pancreas
Elevated LFTs Abdominal pain Hepatomegaly Ascites Jaundice
Brain Metastasis
“Lots of Bad Stuff Kills Glia”
Lung Breast Skin (melanoma) Kidney GI tract
Lung > breast > melanoma, colon, kidney
HA
Neurological deficits
Cognitive function
Seizures
Well circumscribed tumors at grey/white matter junctions
Bone Metastasis
“Permanently Relocated Tumors That Like Bone”
Prostate Renal cell cancer Testes Thyroid Lung Breast
Prostate, breast > lung, thyroid, kidney
Mutation in APC
- type mutation
- seen in
Tumor suppressor genes
Negative regulator of beta-catenin/WNT pathway
Familial adenomatous polyposis
Colon cancer
NF1 mutation
- type of mutation
- chromosome
- presentation
Tumor suppressor protein
- Neurofibromin (Ras GTPase activating protein)
NF type 1
Neurofibromas, cafe au lait spots
Chr 17
NF2 mutation
- type of mutation
- chromosome
- presentation
Tumor suppressor protein
- Merlin (schwannomin) protein
NF type 2
Bilateral acoustic schwannoma
chr 22
K-RAS mutation
H-Ras mutation
N-RAS mutation
- type
- seen in
oncogene mutation
Colon
Lung
Pancreatic tumors
Bladder and kidney tumors
Melanomas
Hematologic malignancies
Follicular thyroid cancer
RET mutation
- type mutation
- associated with
oncogene mutation
- receptor tyrosine kinase
MEN 2A and 2B
- Pheochromocytoma
- Medullary thyroid cancer
Papillary carcinoma of thyroid
c-myc
- type mutation
- seen in
oncogene mutation
- transcription factor
burkitt lymphoma
What is the RL enzyme in purine synthesis?
RL enzyme in pyrimidine synthesis?
Purine: Glutamine PRPP amidotransferase
Pyrimidine: Carbamoyl phosphate synthase 2
Tartrate-resistant acid phosphatase (TRAP)
Hairy cell leukemia
RL enzymes for each?
- Urea cycle
- Hexose monophosphate pathway
- Fatty acid synthesis
- Beta-oxidation of fatty acids
- Ketone body synthesis
- Cholesterol synthesis
- Bile acid synthesis
- Heme synthesis
- Carbamoyl phosphate synthetase I
- Glucose 6 phosphate dehydrogenase
- Acetyl CoA carboxylase
- Carnitine acyltransferase
- HMG CoA synthase
- HMG CoA reductase
- 7-alpha hydroxylase
- Aminolevulinate synthase
What are the irreversible enzymes involved in gluconeogenesis?
Pyruvate carboxylase (pyruvate –> oxaloacetate)
PEP carboxykinase
(oxaloacetate –> phosphoenolpyruvate)
Fructose 1,6 bisphosphatase
(Fructose 1,6- bisphosphate –> Fructose 6 phosphate)
Glucose 6 phosphate
(Glucose 6 phosphate –> glucose)
Transfusion reactions
Type II hypersensitivity
Lupus
- type of rxn
- deficiency of
type II hypersensitivity
C1q, C4, C2
Fluoxetine affects neurons arising from
SSRI
From Raphe nucleus
NE is from
Locus cereuleus
GABA from
Nucleus accumbens
Dopamine from
Ventral tegmentum SNc
Leukomoid vs CML
Leukomoid
- high alkaline phosphate (LAP)
CML
- low leukocyte alkaline phospahtase
Fever Diarrhea Splenomegaly Muscle wasting Pancytopenia
Bitten sand fly
Leishmania spp
Leukotrienes do what
LTC4
LTD4
LTE4
Increase bronchial tone
LBT4
- increase neutrophil chemotaxis
Prostacyclin do what
Decrease platelet aggregation
Decrease vascular tone
Prostaglandins do what
Decrease vascular tone
Increase uterine tone
Thromboxane do what
Increase platelet aggregation
Increased vascular tone
Pulmonary embolism does what to pH, PaO2, PaCO2, Serum HCO3
pH increase
PaO2 decrease
PaCO2 decrease
Serum HCO3 Normal
PE occludes parenchyma resulting in increased dead space ventilation
Hyperventilation –> hypocapnia and respiratory alkalosis
Acute so no bicarb involvement yet
Bacteria virulence factor simlar to tropomyosin and myosin.
Fxn
M protein
Resist phagocytosis
Group A streptococcus
- S pyogenes
- cross rxn causes rheumatic carditis
Decreased pulmonary capillary wedge pressure
Right sided heart failure
Impaired blood flow from right ventricle to left side of heart
Antibodies to phospholipase A2 (PLA2R)
Membranous nephropathy
Magnesium salts and aluminum hydroxide together for antiacid
Magnesium causes diarrhea
Aluminum hydroxide causes constipation
Both temporarily increase the gastric pH by neutralizing hydrochloric acid relieving reflux
Common source of hemorrhage from penetrating gastric ulcers
Right and left gastric arteries that run along lesser curvature of stomach
Saddle nose and oliguria
CXR?
Granulomatosis with polyangiitis (Wegeners)
Large nodular densities
Which testicular tumor is associated with each?
1) Composed of cytotrophoblasts and syncytiotrophoblasts?
2) May present initially with gynecomastia
3) Elevated AFP
4) Elevated beta-hCG
5) Histologic appearance similar to koilocytes (cytoplasmic clearing)
- Choriocarcinoma
- Leydig or sertoli cell tumor
- yolk sac tumor
- choricocarcinoma, embryonal carcinoma
- Seminoma
Which ovarian tumor matches each?
1) Estrogen secreting leading to precocious puberty
2) Produces AFP
3) Psammoma bodies
4) Testosterone secreting leading to virilization
5) Lined with fallopian tube like epithelium
6) Ovarian tumor + ascites + hydrothorax
7) Call-Exner bodies
8) Elevated beta-hCG
9) Resembles bladder epithelium
1) Granulosa theca cell tumor
2) Yolk-sac tumor
3) Serous cystadenocarcinoma
4) Sertoli-leydig cell tumor
5) Serous cystadenoma
6) Ovarian fibroma (meigs syn)
7) Granulosa cell tumors
8) Choriocarcinoma, dysgerminoma
9) Brenner tumor
Which embryologic structure of the heart gives rise to each of the following?
1) Ascending aorta and pulmonary trunk
2) Coronary sinus
3) Superior vena cava
1) Truncus arteriosus
2) Left horn of sinus venosus
3) Right common cardinal vein and right anterior cardinal vein
What is the antidote for
1) Iron
2) Lead
3) cyanide
4) Methomoglobin
5) Carbon monoxide
6) Methanol or ethylene glycol
1) Deferoxamine
2) EDTA , succimer, dimercaprol
3) Nitraites, hydroxycobalamin, thiosulfate
4) Methylene blue, vit C
5) 100% oxygen hyperbaric oxygen
6) Fomepizole, ethanol, hemodialysis
Hematogenous spread of carcinomas
Four Carcinomas Route Hematogenously
Follicular thyroid carcinoma
Choriocarcinoma
Renal cell carcinoma
Hepatocellular carcinoma
Clearance (CL)=`
Rate of elimination of drug/ plasma drug concentration
= Vd x Ke (elimination constant)
Ke= 0.7/t(1/2)
CL= (0.7 x Vd)/ t(1/2)
Loading dose=
(Cp x Vd)/ F
F= bioavailability
IV F= 100%
Cp= target plasma conc at steady state
Maintenance dose=
(Cp x CL x tau)/ F
tau= dosage interval (time between doses, if not administered continuously, in hours)
Maintenance dose for 1 day= 24 hrs
Alpha 1 fxn (3)
Increase vascular smooth muscle contraction
Increase pupillary dilator muscle contraction (mydriasis, dilation)
Increase intestinal and bladder sphincter muscle contraction
Alpha 2 fxn (5)
Decrease sympathetic (adrenergic) outflow Decrease insulin release Decrease lipolysis Increase platelet aggregation Decrease aqueous humor production
Beta 1 fxn (4)
Increase HR
Increase contractility (one heart)
Increase renin release
Increase lipolysis
Beta 2 fxn ( 7)
Vasodilation Bronchodilation (two lungs) Increase lipolysis Increase insulin release Decrease uterine tone ** Ciliary muscle relaxation Increase aqueous humor production
M1 fxn
M2 fxn
M3 Fxn
M1: mediates higher cognitive functions, stimulates enteric nervous system
M2: Decrease HR and contractility of atria
M3: Increase exocrine gland secretions, increase gut peristalsis, increase bladder contraction, bronchoconstriction, increase pupillary sphincter muscle contraction (miosis)
Preload
- is what
- approximated by
- also measures
- decreased by
Pressure at end of diastole (relaxation) when ventricles are the fullest right before contraction.
Approximated by ventricular End-diastolic volume
Ventricles fill from atria, atrial pressure= preload
Decreased by venous vasodilators
Afterload
- approximated by
- decreased by
Approximated by Mean arterial pressure
Total peripheral resistance (TPR)
Decreased by arterial vasodilators
EDV =
Right atrial pressure
S1 heart sound
S2 heart sound
S1= mitral and tricuspid closing
S2= aortic and pulmonary closing
Beside maneuver
1) Inspiration
2) Hand grip
3) Valsalva, standing up
4) Squatting
1) Inspiration
- increases venous return to right atrium
- Increase Intensity of right heart sounds
2) Hand grip
- Increase after load
- Increase intensity of MR, AR, and VSD
- Decrease AS murmur
3) Valsalva, standing up
- Decrease preload
- Decrease intensity of most murmurs
- Increase intensity of hypertropic cardiomyopathy
4) Squatting
- Increase venous return, increase preload, increase afterload
- Increase intensity of AS, MR, VSD
Slurred curved upstroke (delta wave) between P and R
Wolff parkinson white
Abnormal fast accessory conduction pathway from atria to ventricle (bundle of kent) bypassing AV node
May result in SVT
Pulmonary capillary wedge pressure approximation of
left atrial pressure
Drugs that cause pulmonary fibrosis
Amiodarone
Bleomycin
Busulfan
Drugs taht cause flushing
Vancomycin
Niacin
Adenosine
Dihydropyridine Ca channel blockers
Drugs that cause Torsades de pointes
Potassium channel blockers Na channel blockers Macrolides Haloperidol Chloroquine Protease inhibitors
Drugs that cause gingival hyperplasia
Phenytoin
Verapamil
GI bleeding
Buccal pigmentation
Peutz jegher syndrome
Hamartomatous GI polyps, hyperpigmentation of
mouth/feet/hands/genitalia
Tuberous Sclerosis
HAMARTOMASS
Hamartomas in CNS and skin Angiofibromas Mitral regurg Ash lead spots Cardiac rhabdomyoma Tuberous sclerosis autosomal dOminant Mental retardation renal Angiomyolipoma Seizures Shagreen patches
78 y.o to office with one month history of progressive dyspnea, generalized weakness, fatigue and palpitations. He reports tingling and numbness in both lower limbs. Hes not been taking care of himself since wife died. CV exam shows displaced apical impulse at 6th intercostal space, a third heart sound, and high volume carotid pulses. Pedal edema, mild hepatomegaly. Normal blood counts. What deficiency?
A. Ascorbic acid B. Cobalamin C. Niacin D. Pyridoxine E. Retinol F. Riboflavin G. Thiamine
G. Thiamine
Wet beriberi
- peripheral neuropathy
- heart failure
Normal cardiac pressures
1) RA
2) RV
3) Pulmonary artery
4) Pulmonary artery wedge
5) LA
6) LV
7) Aortia
1) RA= < 5
2) RV= 25/5
3) Pulmonary artery= 25/10
4) Pulmonary artery wedge= < 12 (10)
5) LA= < 12 (10)
6) LV= 130/10
7) Aorta= 130/90
Cachexia
TNF-alpha, IFN -gamma, IL-1 IL-6
Unusually muscle movements of thumb Hypoplastic mandible Low set ears Bifid uvula Cleft palate
Physical features of DiGeorge syndrome
Hypocalcemia
Schistocytes associated with
HUS, TTP, DIC and AORTIC STENOSIS
Structure gives rise to heart structure
1) Smooth parts of left and right ventricles
2) Smooth part of right atrium
3) Trabeculated left and right atria
4) Trabeculated parts of the left and right ventricles
1) Smooth parts of left and right ventricles
- Bulbus cordis
2) Smooth part of right atrium
- Right horn of sinus venosus
3) Trabeculated left and right atria
- Primitive atria
4) Trabeculated parts of the left and right ventricles
- Primitive ventricle
