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