Pathology Flashcards
Stained in blue (by hematoxylin)
Nucleic acids and calcium salts:
NBC!!
Nuclei and Nucleoli
mRNA in the cytoplasm
Bacteria
Calcium
Stained in pink (by eosin)
Pink proteins!
Cytoplasm Collagen Fibrin Red blood cells Thyroid colloid
Vitamin A deficiency generates:
Night blindness Squamous metaplasia (keratomalacia in the conjuntiva) Immune deficiency
Vitamin D deficiency generates:
Rickets and osteomalacia
Vitamin K deficiency generates:
Bleeding diathesis
Vitamin B12 deficiency generates:
Megaloblastic anemia
Neuropathy (Subacute Combined Degeneration: Spinocerebellar, Corticospinal, Dorsal column)
Folate deficiency generates:
Megaloblastic anemia
Neural cord defects
Vitamin B3 or niacin deficiency generates:
Pellagra:
diarrhea
dermatitis
dementia
Biliary track obstruction is signaled by:
Alkaline phosphatase
What is Barrett esophagus?
A metaplasic change of the esophageal epithelium from squamous to columnar (globet cells are dx of Barrett)
Russel bodies are:
Intra cytoplasmic accumulations of immunoglobulins
Collagen type I is found in:
Skin
BONE (1)
Tendons
Most organs
It is the most common form, is strong
Collagen type II is found in:
Cartilage, CarTWOlage (2)
Vitreous humor
Nucleus pulposus
Collagen type III is found in:
Blood vessels Granulation tissue Embryonic tissue Uterus Keloid It is pliable, in tissues that need to change shape
Collagen type IV is found in:
Basement membranes. Heparan sulfate is what gives the basement mb it’s negative charge (Ab against it on Goodpasture sd. hematuria+hemoptysis)
Lens of the eye
Warfarin therapy is monitored with:
Prothrombin time (extrinsic pathway)
The short one for the strange
Heparin therapy is monitored with:
Partial thromboplastin time (intrinsic pathway)
The long one for our own
Prothrombin time tests:
The extrinsic pathway
Partial thromboplastin time tests:
The intrinsic pathway
Thrombin time tests:
Fibrinogen levels
Fibrin degradation products test:
Fibrinolytic system
Albinism is due to a deficiency of the enzyme:
Tyrosinase (needed to convert tyrosine, an aromatic aa, and DOPA to melanin). This is the most common form and it is autosomal recessive
Other forms affect the tyrosine transporter and neural crest migration
The triplets that repeats in Fragile X syndrome is:
CGG
The triplets that repeats in Huntington disease is:
CAG
Caudate
↓ Ach and GABA
↑ DA
In Prader-Willi the microdeletion is on:
The paternal chromosome 15
In Angelman the microdeletion is on:
The maternal chromosome 15
Type I hypersensitivity is mediated by and it’s also called:
IgE
Also called anaphylactic type
Type II hypersensitivity is mediated by and it’s also called:
IgG or IgM
Also called antibody-mediated hypersensitivity
Type III hypersensitivity is mediated by and it’s also called:
Antibody-antigen immune complexes
Also called immune complex disease
Type IV hypersensitivity is mediated by and it’s also called:
Sensitized T lymphocytes
Also called cell-mediated type or delayed type
Function of P53:
Prevents cell with damaged DNA to progress from G1 to S-phase
If DNA is damaged upregulates either repair enzymes or BAX to break Bcl2 and promote apoptosis
Function of Rb:
Prevents progression from G1 to S-phase
Holds E2F transcription factor, releases it when it is phosphorylated by the cyclinD/CDK4 complex, when E2F is released cell can go to S-phase
Rb PHOSPHORYLATION means cell cycle PROGRESSION; the inactive form is the phosphorylated in which Rb cannot halt progression
Name 6 important tumor suppressor genes:
P53 (17p): p21 activator Rb (13q): E2F inhibitor VHL (3p): hypoxia-induced factor 1a inhibitor APC (5q): β-catenin regulator DCC and DPC (18q) NF-1 (17q): ras supressor!
Cyanide and CO toxicity mechanism:
Cyanide (bitter almonds)
CO (cherry red)
Both bind mitochondrial Fe in cytochrome oxidase a/a3; cynide binds Fe3+ and CO binds Fe2+; avoid e- to move to O2
On top CO binds Hb and causes left shift in Hb’s curve
Cocaine mechanism of action:
Prevents dopamine, serotonin and norepinephrine uptake into presynaptic neurons
Auerbach plexus refers to ____ ganglia
Myenteric
Meissner plexus refers to ____ ganglia
Submucosal
The autoimmune reaction involved in diabetes type 1 pathogenesis is:
Type IV hypersensitivity
To assess the coagulopathy due to liver disease we use:
The prothrombin time
In hepatitis B serology,
HBsAg
HBeAg and
HBV-DNA
Are positive in:
Acute and chronic infection
In hepatitis B serology,
HBcAb
Is positive in:
Acute (IgM) and chronic (IgG) infection
Window period (IgM); the one that is not up yet is the HBsAb IgG
Acute battle
In hepatitis B serology,
HBcAb IgG
Is positive in:
Prior infection and chronic infection
You don’t have IgG in acute; IgG means chronic or passed! Victory but you have had an acute battle!
Chronic active: high liver enzymes
Chronic persistent: asymptomatic, nr labs
In hepatitis B serology,
HBsAb IgG
Is positive in:
Prior infection and immunization; victory
HBsAb IgG binds to circulating virus preventing viral entry into hepatocyte (this is the mechanism of the vaccine)
Döhle bodies are? and basophilic stippling?
Döhle bodies: aggregates of RER and ribosomes in WBC seen in leukemoid reaction, myelodysplasia, burns
Basophilic stippling: ribosomes precipitated in RBC seen in sideroblastic anemia and thalassemias
Reed-Sternberg cells are:
Diagnostic of Hodgkin lymphoma
Have a bilobed nucleus with prominent large inclusion-like nucleolus in each lobe
Lacunar cells are:
Characteristic from Nodular sclerosis (most common subtype of Hodgkin lymphoma)
Have a clear space surrounding the malignant tumor cells
The tumor marker for seminoma is:
Placental alkaline phosphatase (PLAP) and β-HCG
Chvostek sing is:
Twitching of ipsilateral facial muscles after tapping the muscles (neuromuscular excitability)
Occurs in hypoparathyroidism
Is indicative of hypocalcemia
Trousseau sign is:
Muscular contractions after inflating the sphygmomanometer cuff above systolic blood pressure for several minutes (neuromuscular excitability)
Occurs in hypoparathyroidism
Is indicative of hypocalcemia
Secondary gout can be caused by:
Leukemia (excessive WBC cell breakdown) and myeloproliferative diseases (P vera; excessive RBC cell breakdown) Tumor lysis syndrome Lesch-Nyhan syndrome Von Gierke Chronic kidney disease Thiazide/loops use
Pseudogout in a patient younger than 50 should raise suspicions about:
Hemochromatosis Hyperparathyroidism Hypophosphatemia (low P) Hypomagnesemia (low Mg) Join trauma
4Hs
Marker on cytotoxic T lymphocytes
CD8
The mesonephric or Wolffian duct evolves to form:
SEED: Seminal vesicles, Epididymis, Ejaculatory ducts, Ductus deferens and ureter (male internal structures except the prostate). Men are wolfs
In the female forms the Gartner duct; also forms the distal part of female and males forms the trigone of the bladder
Poison ivy and poison oak contact lead to:
Hypersensitivity type IV, cell-mediated type or delayed type
Side effect of bleomycin:
Pulmonary fibrosis
Cyclosporine and tacrolimus side effect:
Nephrotoxicity
Cyclosporine and tacrolimus mechanism of action:
Inhibit calcineurin-mediated transcription of IL-2 gene and therefore reduce T-cell activation
Risk factors for pigment gallstones:
Cirrhosis
Hemolytic anemias
Liver fluke infection (Clonorchis sinensis)
p-ANCAs are elevated in:
Microscopic polyangiitis
Churg-Strauss sd.
Ulcerative colitis
Rb tumor suppressor gene is in and is associated with:
Chromosome 13q
Associated with retinoblastoma and osteosarcoma
Whooping cough is the hallmark of:
Pertussis infection
Typical heart sound in mitral stenosis:
Low-pitched, rumbling diastolic murmur
Enzymes missing (2) in panacinar emphysema:
1) Alpha-1 antitrypsin, coded by the gene SERPINA1
Codominant, normal genotype is PiMM and the homozygous for illness genotype is PiZZ
Because alpha-1 antitrypsin can lead to cirrhosis it can present with bleeding due to ↑PT
2) Elastine
Histological findings in asthma:
Curschmann’s spirals (mucus)
Charcot leyden crystals (granules in eosinophils made of eosinophilic major basic protein)
Treatment of patent ductus arteriosus:
O2 Indomethacin (PGs inhibitor)
Cause of primary pulmonary hypertension:
Inactivating mutation in BMPR2
Where does the transitional cell ca. occur?
On the bladder
CREST sd. Manifestations:
Calcinosis (Ca deposits in the skin) Raynaud’s (cold/stress induced vasospasm) Esophageal dysfunction Sclerodactyly (atrophy of hand’s skin) Telangiestasias
Kartagener syndrome is characterized by:
Immotile cilia due to dynein arms defect
Situs inversus
Chronic sinusitis
Bronchiectasis (airway enlargement)
Infertility
Most frequent bacteria in aspiration pneumonia:
Anaerobic: peptostreptococcus, bacteroides, prevotella, fusobacterium
Aerobic: streptococcus
The most important inmune effectors in TB are:
CD4 T lymphocytes and macrophages
Example of a serine protease inhibitor:
Alpha-1 antitrypsin
The a wave of the jugular venous pulse is caused by:
Atrial contraction
The c wave of the jugular venous pulse is caused by:
The RV contraction and the closed tricuspid valve bulging into the RA
The x descent of the jugular venous pulse is caused by:
Atrial relaXation
The v wave of the jugular venous pulse is caused by:
Increase of pressure in the RA because of the filling of RA with a closed tricuspid valve
The y descent of the jugular venous pulse is caused by:
Decrease pressure in the RA because the tricuspid valve opens and blood goes to the RV
Histological pattern that predisposes to thoracic vs abdominal aortic aneurysms and dissection:
Thoracic: cystic medial degeneration, with myxomatous degeneration of the media layer in large arteries
Abdominal: atherosclerosis
Illnesses in MEN1 or Wermer sd:
Pituitary tumors
Parathyroid tumors
Pancreatic endocrine tumors
Kidney stones and stomach ulcers
Illnesses in MEN2A or Sipple sd:
Medullary thyroid ca.
Pheochromocytoma (VMA)
Parathyroid hyperplasia
Illnesses in MEN 2B sd:
Medullary thyroid ca.
Pheochromocytoma (VMA)
Mucosal neuromas
Marfanoid habitus
The only functional parameters increased on the air trapping pattern of COPD are:
What parameter can be normal?
TLC (might be normal initially)
RV
RV/TLC
FRC
FVC can be decreased or nr
Expiratory reserve vol. is decreased
ST elevation or Q waves in avL and lead I indicate:
Left circumflex A occlusion (lateral MI)
ST elevation or Q waves in V5 and V6 indicate:
Left circumflex A occlusion (lateral MI)
ST elevation or Q waves in V1-V4 indicate:
LAD occlusion (anterior MI)
ST elevation or Q waves in V3-V4 indicate:
Distal LAD occlusion (anteroapical MI)
ST elevation or Q waves in V1-V6, I and avL indicate:
Left main coronary A occlusion
ST elevation or Q waves in leads II, III and avF indicate:
Right coronary A occlusion (inferior MI)
The RCA lesion and inferior MI can affect either the RV to the LV because it gives 3 branches:
PDA: causes inferior heart MI
Marginal: causes RV MI leading to hypotension
Atrial branch
Clothing factors involved, diagnostic coagulation time and treatment for intrinsic pathway problem:
12, 11, 9 and 8
PTT
HEParin
Clothing factors involved, diagnostic coagulation time and treatment for extrinsic pathway problem:
7
PT
Warfarin, cumidin
Examples of tumors that contain psammoma bodies:
Mesothelioma Meningioma Papillary thyroid ca. Papillary serous ovary/endometrial ca. (psammoma indicates high grade in serous cystosarcoma) Prolactinoma and somatostatinoma
Isoniazid therapy leads to deficiency of which vit? And which symptoms?
Vit B6, pyridoxine Sideroblastic microcytic anemia Chelosis, stomatitis Peripheral neuropathy Convulsions
Permanent tissues, 3 types and main characteristic:
Cardiac and skeletal m. and nerves
Don’t have stem cells so cannot make new cells so cannot undergo hyperplasia. They undergo hypertrophy only.
Budd-Chiari sd. definition and main causes:
Hepatic vein thrombosis that leads to liver infraction
Main cause is polycythemia vera, hepatocell ca, QT, lupus-anticoagulant
Sings of CO poisoning:
Early sing is headache, cherry-red skin
Sings and treatment of methemoglobinemia:
Cyanosis with chocolate-color blood
Methylene blue to reduce Fe
Mechanics underlying hemochromatosis and Wilson’s disease:
Free radical generation by Fe and Cu
Conditions where you get systemic amyloidosis:
Multiple myeloma (1ry, AL amyloid)
Chronic inflammation as autoimmune diseases, malignancy and Familial Mediterranean fever (2ry, AA amyloid)
Dialysis-related (β2 microglobulin -also helps follow MM-)
Conditions where you get localized amyloidosis:
Senile cardiac amyloidosis (transthyretin :) )
Familial amyloid cardiomyopathy (mutated transthyretin :( 👨🏿)
DM 2 (amylin)
Alzheimer’s (A β amyloid)
Medullary thyroid ca. (calcitonin)
DD of noncaseating granulomas:
Foreign material (breast implants) Sarcoidosis Beryllium Crohn Cat scratch disease Schistosoma (bladder) Syphilis
DD of caseating granulomas and further testing:
TB, tested with acid fast bacillus (AFB) stain
Fungi, tested with Grocott methenamine silver (GMS) stain
DiGeorge sd. is caused by a microdeletion in:
22q11
Collagen change in scaring and cofactor needed:
Collagen type III (pliable) changes to type I (hard) by collagenase that needs Zinc
Ca. related to EBV:
Nasopharyngeal ca.
Burkitt lymphoma
CNS lymphoma
Ca. related to HHV-8:
Kaposi sarcoma
Ca. related to HTLV-1:
Adult T-cell leukemia/lymphoma
Which tumor is associated with KIT mutation?
Gastrointestinal stromal tumor (GIST)
Acral melanoma
Systemic mastocytosis (↑ histamine, flushing, hypotension, pruritus, urticaria, ↑ gastric acid)
(Also seminoma and AML)
Is a tyrosine kinase, can be treated with imatinib as CML!
Where do you see t(9,22) and what gets mutated?
ABL (a signal transducer) gets mutated and this is seen in CML and some adult ALL
Where do you see t(8,14) and what gets mutated?
C-myc (Congo); a nuclear regulator that gets mutated in Burkitts lymphoma
Where do you see t(11,14) and what gets mutated? What is the histology?
Cyclin D1 (a cell cycle regulator that allows G1–>S) gets mutated and this is seen in mantle cell lymphoma Histology: expansion of the region immediately adjacent to the follicle
What is the cause of thrombotic thrombocytopenic purpura?
Decrease in ADAMTS13 (autoantibodies)
What is a classic cause of hemolytic uremic sd?
E. coli O157:H7 dysentery in children that eat undercooked beef (generates a verotoxin)
Specific test and treatment for von Willebrand disease:
Abnormal ristocetin test
Acute tto/prophylaxis with desmopressin (ADH analog just binds V2, no vasoconstriction) that increases vWF and factor 8 release from Weibel-Palade bodies (also helps in hemophilia A). Tachyphylaxis due to depletion of endothelial stores
What test do you use to measure coagulation on liver failure? why?
PT
The liver makes coagulation factors, also vit. K activation by epoxide reductase takes place in the liver
Vit K function:
Gamma carboxylate and activate factors 2, 7, 9, X, C and S
Function of epoxide reductase of the liver and how is blocked:
Activate Vit K, blocked by warfarin (=coumidin)
Best screening test for DIC:
Elevated D-dimer (also characterized by low fibrinogen)
Causes of DIC:
Leaking of amniotic fluid on mother’s blood (amniotic fluid has tissue thromboplastin, tissue factor) Sepsis Adenoca. Acute promyelocytic leukemia Rattlesnake venom
Common presentation and cause of death in sickle cell anemia:
Presentation is dactylitis 👶🏿
Death for infection with encapsulated (s.pneumoniae or h. influenzae) 👶🏿 and acute chest sd. (vasooclusion in lung vessels after pneumonia) 👨🏿
JAK2 kinase mutation is associated with:
Polycythemia vera
Essential thrombocytopenia
Myelofibrosis
What is the most frequent cause of Budd Chiari sd?
Polycythemia vera (can also be caused by hepatocellular ca.)
Which tumor can secretes EPO? What are the side effects of EPO?
Renal cell ca.
SE: polycythemia, thromboembolism, hypertension, ↑GFR (bc ↑ glomerular capillary oncotic pressure)
Where do you see t(14,18) and what gets translocated?
Bcl2 is overexpressed and it inhibits apoptosis of B cells
Follicular lymphoma
Serum marker, type of hypersensitivity and micro associated with Polyarteritis Nodosa:
HBsAg, hepatitis B surface antigen
Type 3 hypersensitivity, immune-complex mediated inflammation of the medium-size arteries
Micro: fibrinoid necrosis; different stages of transmural necrotizing inflammation (amorphic eosinophilic materia in blood vessels)
Distribution, Ab and tto. of Wegener Granulomatosis:
WeCener:
Distribution: Nasopharynx, lungs (nodules/cavitation) and kidneys, fatigue, weight loss…
Ab: C-ANCA
Micro: necrotizing vasculitis with granulomas
tto: Cyclophosphamide
What kind of nephropathy do you get on Henoch-Schönlein Purpura?
IgA nephropathy causing nephritic syndrome (normally after GI/upper respiratory infection on young)
When do the different fibrinous (bread and butter) pericarditis happen after MI? How are they called?
Postinfarction fibrinous pericarditis: 1-3 days after an MI (neutrophils phase) only if transmural
Autoinmune pericarditis=Dressler sd that happens weeks after due to an autoimmune phenomenon also causes fibrinous pericarditis
What does direct Coombs asks?
Are there RBCs bound to this Ab? Done on baby or patient at risk
What does indirect Coombs asks?
Does the patient has Abs in his/her serum?
Done on mom
VSD is associated with:
Fetal alcohol sd.
Ostium primum type ASD is associated with:
Down sd.
Name 2 important associations of patent ductus arteriosus:
Associated with congenital rubella
May lead to lower extremity cyanosis later in life
Transposition of the great vessels is associated with:
Gestational maternal diabetes
PREgestational diabetes with bad control on the 1st trimester is associated with sacral agenesis and hypertrophic heart
Name 2 important associations of infantile coartation of the Aorta:
Associated with Turner sd.
Has a PDA and causes lower extremity cyanosis at birth
Name 2 important associations of adult coartation of the Aorta:
Associated with bicuspid aortic valve
Causes notching of ribs on x-ray
What is the most common cause of nephrotic sd. in african-american and hispanics?
Focal segmental glomerulonephritis/sclerosis because they have lipoprotein L1 allele
Also in sickle, heroin, AIDS (collapsing glomerular form, bad) or of they have less kidney
What is the most common cause of nephrotic sd. in children?
Minimal change disease
Which is the most common primary cardiac tumor in children? What is associated with?
Rhabdomyoma, associated with tuberous sclerosis
Viruses associated and distribution of laryngeal papilloma:
HPV 6 and 11, low risk of ca.
Single in adults multiple in children
Gene deficiency in paroxysmal nocturnal hemoglobinuria and consequences:
Acquired defect in myeloid stem cell’s PIGA gene that synthesizes glycophosphatidylinositol so complement inhibitors (CD55=DAF and CD59=MIRL cannot anchor)
Complement break down RBCs: low haptoglobin
Can develop iron deficiency, aplastic anemia!! and 10% will develop AML
What is the screening test for adequate surfactant production?
Lecithin (phosphatidylcholine)/ sphingomyelin ratio
Name two very mutagenic carcinogens of tobacco:
Polycyclic aromatic hydrocarbons
Arsenic
2-Naphthylamine
Findings in Plummer-Vison sd:
Severe iron deficiency anemia
Esophageal web
Beefy-red tongue (glossitis)
Increased risk of squamous ca. of the esophagus
What is the most common inherited cause of hypercoagulability? What is the mutation that causes it? What is the pathophysiology?
Factor V Leiden
A506G
Mutated factor 5 that cannot be inactivated by proteins C and S so thrombosis
Celiac disease pathophysiology, most prominent location and associations:
T cells against DEAMINATED gliadin damage small bowel villi
Most prominent in duodenum
Some celiacs are IgA deficient
Complications: small bowel ca. T!!! cell lymphoma
Right upper quadrant pain that radiates to the right scapula is indicator of:
Acute cholecystitis
Presentation of Dubin-Johnson sd:
Asymptomatic but liver is dark because of epi metabolites accumulation in lysosomes
(same but nr liver in Rotor sd.)
Principles for serologic markers in Hepatitis B:
Surface antigen (HBsAG) indicates infection
IgM against the core (HBcAB IgM) indicates acute battle
IgG against the surface (HBsAB IgG) indicates victory
Envelope antigen (HBeAG) indicates infectivity
Anti mitochondrial Ab indicates:
Primary biliary cirrhosis
Primary sclerosing cholangitis is associated with:
Ulcerative colitis; both can have a positive p-ANCA
Risk factors of hepatocellular ca:
Chronic hepatitis (80%) cirrhosis and aflatoxins form Aspergillus
Aspergillus grows in grains stored for a long time and aflatoxins induce p53 mutations
What are the antibodies against in myasthenia gravis:
Nicotinic Ach receptors on the postsynaptic plate
What are the antibodies against in Lambert-Eaton:
Voltage-gated Ca ch. on the presynaptic plate
What mediates inmune response in myasthenia gravis and what condition is associated with it?
T cells
Associated with thymomas or thymic hyperplasia
Hallmark cell in acute interstitial nephritis? Causes?
Eosinophils (maybe present in urine as WBC casts ± sterile pyuria) fever, RASH, proteinuria and hematuria
Causes; 5Ps: NSAIDs (pain), penicillin (cephalosporins, sulfa drugs), ppi’s, diuretics (pee), rifamPin
Minimal change disease is associated with which other conditions? And population?
Hodgkin lymphoma
Children 👦
Focal segmental glomerulosclerosis is associated with which other conditions? And population?
HIV
Heroin use
Sickle cell anemia
Hispanics👨🏽and African Americans👨🏿
Membranous nephropathy is associated with which other conditions? And population?
Lupus
Hepatitis B or C
Solid tumors
NSAIDs and penicillamine
Caucasian adults👨🏻
Membranoproliferative glomerulonephritis is associated with which other conditions? And population?
Type I: HVC; subENDOthelial deposits
Type II: C3 nephritic factor; intramembranous deposits
Both: Tram tracks (basement mb splitting)
H. Pylori colonization of the antrum tends to cause:
Duodenal ulcers
How do you differentiate Goodpasture and WeCener sd?
Both have hematuria and hemoptysis
Goodpasture has lineal IF
WeCener has sinus symptoms, negative IF and c-ANCA
How do you differentiate microscopic polyangiitis and Chung-Strauss sd?
Both have negative IF and p-ANCA
Chung Strauss has granulomatous inflammation, eosinophilia and asthma
Microscopic polyangiitis does not have granulomas, asthma (DD w Chung-Strauss) or nasopharyngeal involvement (DD w WeCener)
Presentation of Alport sd:
Hematuria, hearing loss and ocular disturbances in a family (X-linked dominant)
Ammonium magnesium phosphate kidney stones are associated with:
Struvite stones: Urease + infections as Proteus, Klebsiella and ureaplasma urealyticum
Result in staghorn 🦌 coffins-like prisms calculi, in adults 👨 that promote UTIs
Urine smells like ammonia, ammonia makes basic pH so Mg and P precipitate with the ammonia
tto: percutaneous nephrolithotomy
Staghorn 🦌 calculi in children 👦 indicates:
Cystine stones due to cystinuria (defect in cystine reabsorption)
Dialysis in shrunken end-stage kidney failure leads to:
Cysts that increase the risk of renal cell ca.
Paraneoplastic sd. that can be seen in renal cell ca. can secrete:
EPO: polycythemia
Renin: HT
PTHrP: hypercalcemia and SHORT QT (PTH causes SHORT QT)
ACTH: Cushing sd.
Gonadotropins: feminitation
IL: leukemoid reaction, eosinophilia, AA amyloid
In general paraneoplastic sd are rare
Tumor suppressor gene lost in renal cell ca:
VHL
VIPoma presentation:
WDHA sd: watery diarrhea, hypokalemia and achlorhydia
What do high risk HPV viruses produce to make them high risk?
E6 and E7 proteins that destroy p53 (that ↓ transcription of p21) and Rb respectively
What’s the name of endometriosis of the myometrium?
Ademyosis
What is the most important predictor of progression to ca. in endometrial hyperplasia?
Cellular atypia
BRCA mutation carriers are at increased risk of:
BRCA1: Breast ca. Ovarian serous ca. Fallopian tuve serous ca. Prostate Often elect to have mastectomy+salpingo-oophorectomy
BRCA2:
Breast in both sexes
Pancreatic ca.
What is Meigs sd. and what type of tumor indicates?
Pleural effusion + ascitis + fibroma of the ovary
Treatment for achalasia:
Botulinium toxin injection on the LES
Smoking is a risk factor of which ca?
Oro pharyngeal ca. Squamous ca. of the esophagus Lung ca. Renal cell ca. Urothelial ca. (bladder)
Cervix ca.
Pancreatic ca.
What is the most common testicular tumor in children?
Yolk sac tumor
Describe the paraneoplastic sd. of choriocarcinoma:
Syncytiotrophoblasts secrete beta-hCG and the alpha-subunit of hCG is similar to FSH, LH and TSH so patients can have gynecomastia or hyperthyroidism
What can happen to an embryonal ca. (of the testicle) after Chemotherapy?
It can differentiate into another type of germ cell tumor as teratoma
Which HLA is associated with Hashimoto thyroiditis? which disease is associated with?
HLA-DR5
NON-Hodgkin lymphoma
Familial autosomal dominant form of pseudohypoparathyroidism is due to? And associated with?
Due to a defect of Gs protein
Associated with short stature and short 4th and 5th digits
What benign lesions can present as mammographic calcifications?
Fibrocystic changes (sclerosing adenosis) Fat necrosis
What mutation is present in some familiar cases of amyotrophic lateral sclerosis?
Zinc-cooper superoxide dismutase mutation
What gene is mutated in Friedreich ataxia and what problem causes?
GAA repeat in Frataxin gene essential for mitochondrial iron regulation
Causes free radical damage
Cell present on CSF of bacterial meningitis:
Neutrophils
Cell present on CSF of viral/fungal meningitis:
Lymphocytes
Histological hallmark of Parkinson disease:
Lewy bodies: alpha-synuclein inclusions in eosinophils
What is the cause of achondroplasia?
Autosomal dominant activating!! mutation on fibroblast GF receptor 3 (FGFR3) leading to decreased chondrocyte proliferation so there is not endochondal ossification in long bones
All that are alive are heterozygous
What is one cause of osteoPETRosis? Consequences and treatment?
Carbonic anhydrase II mutation
There is not acidic environment to break up bone so: poor osteoclasts function
There is no way to get rid of acid on the renal tubule so: renal tubular acidosis
Tto: bone marrow transplant because osteoclasts derive form monocytes
Levels of Ca, P, PTH and AP in osteoporosis:
All normal
What are the complications of Paget disease of the bone?
High output heart failure (bc of AV shunts in bone)
Osteosarcoma
Myelophthisic anemia (or myelophthisis) ~ myelofibrosis
How do you differentiate osteoid osteoma from osteoblastoma?
Osteoid osteoma is in long bones and pain responds to aspirin
Osteoblastoma is >2cm, happens in vertebrae and pain doesn’t decrease with aspirin
Where in the bone does osteomyelitis happens?
EPIphysis: adults 👨
Metaphysis: kids 👦
Epi es un adulto con la Meta de gustar a niños
Where do you see t(11,22)?
On Ewing sarcoma
Main laboratory finding in rheumatoid arthritis:
Rheumatoid factor: IgM against the Fc portion of IgG. Indicates disease activity and tissue damage but just in 80%
Alpha-cyclin citrullinated peptide antibodies (alpha-CCP): in 95%
Inflammatory complications of rheumatoid arthritis and cause:
Due to inmune phase reactants:
Secondary amyloidosis: SAA generates AA that deposits
Anemia of chronic disease: hepcidin blocks the ability to use Fe stored in macrophages
What should you do on a patient that presents with dermatomyositis?
Exclude underlying ca. especially gastric ca.
How do you differentiate lupus and dermatomyositis?
Both have malar rash and positive ANA
Lupus has positive dsDNA antibody
Dermatomyositis has anti-Jo-1 antibody
How do you differentiate dermatomyositis and polymyositis?
In Dermatomyositis you get Perimysial inflammation and CD4+ infiltration
Polymyositis Endomysial inflammation, vascular involvement, CD8+ infiltration and sarcolemmal MHCI overexpression
DP vs PE (2Ps cannot go together)
What is the hallmark and cause of Duchenne and Becker disease?
Hallmark: REPLACEMENT of muscle by adipose and connective tissue
In Duchenne you have dystrophin deletion and in Becker dystrophin mutation so Duchenne is more severe
Which ulcers are associated with malignancy?
Gastric ulcers can turn into INTESTINAL gastric ca. or MALT lymphoma (not in diffuse)
In acute onset shortness of breath + tachypnea (respirations above ~20/min) you should think about:
Pulmonary embolism
Which two pathologies are associated with acanthosis nigricans?
Insulin resistance
Gastric ca.
What is Leser-Trélat sd?
Sudden onset multiple seborrheic keratoses
Think about underlying ca. (especially GI tract)
Risk factors of squamous cell ca:
UVB light exposure (sun, albinism, xeroderma) Immunosuppressive therapy Arsenic Scar from burn Draining sinus tract
Which is the most important px factor predicting metastasis in melanoma?
Breslow thickness: deep of extension
Pie in the sky indicates a lesion of:
Temporal lobe Lingual gyrus (external)
Pie on the floor indicates a lesion of:
Parietal lobe Cuneus gyrus (internal)
What is the most common trisomy in miscarriages?
16 trisomy (also triploidy) they are never carried to term
What is the cause of polycythemia vera? What is the treatment?
Mutation of the proto-oncogene JAK2
Hydroxyurea and ruxolitinib (JAKl/2 inhibitor)
What is the mutation and what ca. are more frequent in VHL?
3 letter illness!
Mutation 3p, autosomal dominant
VHL normally suppresses hypoxia inducible factor HIF1α! is no VHL ↑VEGF
Renal cell ca. (often bilateral)
Hemangioblastoma!! in retina cerebellum…
Polycythemia tumors make EPO
Pheochromocytoma (VMA)
Angiomatosis
Benign CYSTS!!! in the liver, pancreas (serous cystoadenoma) and kidney
Which illnesses do we treat with octreotide?
Carcinoid tumor VIPoma Glucagonoma Acromegaly Esophageal variceal bleeding
Cancers that metastasize to bone:
Breast Lung Thyroid Renal cell ca. Prostate
Where can pathological increased of 1α-hydroxylase and hypercalcemia can be seen? What is the mechanism?
Any granulomatous condition:
Sarcoidosis
TB
Hodgkin lymphoma
Activated T-lymphocytes secrete γ-interferons which increase the expression of 1α-hydroxylase!!!
What generates cold agglutinins?
Mycoplasma and mononucleosis!!
Hep C
Wäldestrom macroglobulinemia
CLL
Intravascular coagulation in extremities by IgM
What generates warm agglutinins?
Lupus
Drugs: alpha-methyldopa, penicillins
CLL
Extravascular coagulation by IgG
Glomerulonephritis with subEPIthelial deposits:
Acute poststreptococcal
Membranous
Glomerulonephritis with subENDOthelial deposits:
Diffuse proliferative (type 4 lupus) MPGN type 1
Glomerulonephritis with mesangial deposits:
Berger IgA
Amyloidosis
Nodular sclerosis in DM (mesangial expansion)
Class 2 lupus (mesangial expansion)
Glomerulonephritis with C3 deposits and other deposits associated:
Acute poststreptococcal (IgG, IgM) Diffuse proliferative (type 4 lupus) (IgG) MPGN type 2 Focal segmental (IgM,C1) Membranous (IgG)
Just acute poststreptococcal and focal segmental have IgM and focal segmental has C1
What are the 4 mechanisms of the body to get rid of free radicals?
Antioxidants vit A,C,E
Superoxide dismutase (for superoxide)
Glutathione peroxidase (for hydroxyl, especially in RBSs needs HMP shunt)
Catalase (for hydrogen peroxidase)
Tumors that can secrete EPO and cause hypercoagulability:
Renal cell ca. Hemangioblastoma Pheochromocytoma (VMA) Hepatocellular ca. Leiomyoma
DD. With P. Vera where EPO will be low
What is the most common site of ectopic pregnancy?
Ampulla of the fallopian tube
Rectal involvement in inflammatory bowel disease:
The rectum is always involved in ulcerative colitis and never in Crohn (regional enteritis)
Where do you see WBC casts?
Acute interstitial nephritis (eosinophils)
Acute pyelonephritis
Transplant rejection
Be careful, you can see some WBCs in urine in other etiologies but not casts!
Main characteristics of pemphigus:
Ab against desmosomes (desmoglein 3 -a cadherin-) that connect epithelial cells to one another Intraepidermal blisters (achantolysis) Blisters start in the mouth Break, + Nikolsky Fatal
Main characteristics of pemphigoid:
Ab (BPAg1 and 2) against hemidesmosomes (dystonin) that connect epithelial cells to the basement membrane, sub epidermal linear complement deposits
Separation of epithelium and basal lamina, subepidermal blisters
Don’t break, - Nikolsky
Melanoma stain markers and main gain of function mutation (protoncogene):
Melanocyte markers: S-100+ (neural crest) HMB45+ (melanoma marker) and MART-1+
V600E (alters Braf and can be treated with vemurafenib; also in pilocytic astrocytoma, langerhans histiocytosis and papillary thyroid ca.)
Tumors with fried eggs appearance in histology:
Seminoma and dysgeminoma
Renal cell ca.
Oligodendroglioma
They are described as clear cells or cells with clear cytoplasm together with clear cell adenoca. of the vagina
Illnesses with high AFP (alpha-fetoprotein):
AFP is made by liver and yolk sac in fetus
Yolk sac tumor
Hepatocelular ca.
Embryonal ca. when mixed (men)
Ataxia-telangiectasia
Pregnancy (high in neural tube defect low in trisomies)
Different form placental alkaline phosphatase in seminoma
What is Fanconi anemia?
Autosomal recessive disease due to lack homologous DNA interestrand crosslink repair that leads to aplastic anemia due to bone marrow failure
Presentation: short stature, no thumb!!! increase malignancy as AML and myelodysplastic sd.
Which marker goes up first on MI?
Myoglobin, goes up first in MI
Bur it is not specific at all, also goes up in skeletal muscle breakdown causing renal failure
MI makes:
Best: Troponis T and I and CK-MB!!!
Most specific and sensitive: Troponins I and T (cTnI and cTnT)
Good for reinfartion: CK-MB (MB fraction of creatinine phosphokinase for muscle -MM for skeletal MB for brain-)
1st to go up: myoglobin; tiny, goes up fast but non specific, also goes up in skeletal muscle breakdown
Others: AST!! (liver and muscle) LDH (goes up 1 day after MI and stays up for 6 days; LDH increases when any cell dies; indicates rapidly growing tumor)
What is invasive carcinoma vs carcinoma in situ?
Carcinoma in situ: dysplasia expanding trough all the epithelium with intact basement. In cervix is asymptomatic
Invasive carcinoma: invasion of the basement membrane! using metalloporteinases (cell-cell contact lost by E-cadherin inactivation). In cervix you get symptoms as malodorous discharge and coital bleeding
Vessel lesions associated with hypertension:
Fibromuscular dysplasia: string of beads in the renal artery. Cause of secondary hypertension due to renal artery stenosis. Can also involve the carotid, vertebral, mesenteric… Types: perimedial, medial, medial+aneurisms (most common)
Hyaline arteriOLOsclerosis: pink thick vessel due to protein leakage in the endothelium in benign hypertension (in the good kidney of renal A. stenosis) and diabetes
Hyperplastic arteriOLOsclerosis: onion skinning with fibrinoid necrosis and smooth m. proliferation consequence of malignant hypertension, acute renal failure with flea bitten appearance
Mutations and treatments that address them in melanoma:
Gain, protoncogene: ckit (acral; imatinib), nras, BRAF v600e (-serine/threonine kinase- vemurafenib, dabrafenib)
Loss, tumor suppressor: pten, CDKN2a (p16 and p14 lost so the cell goes from G1 to S)
Clinical picture of Peutz-Jeghers:
Hyperpigmented freckels Harmatomas (intussusception) GI cancer (colon, pancreas, stomach, breast, ovary, lung...)
Most of the polysaccharide is secreted in the lung by:
Globet cells
Renal papillary necrosis presentation and causes:
Acute renal failure with painless gross HEMATURIA+PROTEINURIA +- renal colic PAIN
Causes: Sickle, acute pyelonephritis, NSAIDs (analgesics) and DM=SAAD
Periportal hepatic fibrosis is found in and characteristics of the affected area:
Zone 1. Has the postal tract (hepatic A. portal V. and bile duct) that brings stuff from the GI so:
Viral hepatitis (affected first)
Ingested toxins: cocaine, phosphorus
Makes glucose
Panlobular lymphocytic infiltration with spots with apoptotic hepatocytes that look round and pink called councilman bodies is found in:
Acute viral hepatitis; in acute hepatitis you get:
- inflammation of both lobules and portal tracts
- spotty necrosis
- ballooning degeneration (swelling)
- councilman bodies (eosinophilic)
- mononuclear cells
Vs chronic hepatitis where you get inflammation predominantly in the portal tracts, infiltration of lymphocytes, plasma cells, and macrophages.
Nodular regeneration is found in:
Cirrhosis
Hepatic centrilobular necrosis is found in and characteristics of the affected area:
Zone 3. Contains P450 enzymes, has the hepatic V. that takes stuff out of the liver so:
Ischemia
Metabolic toxins: alcohol, acetaminophen, halothane, rifampin, CCl4. They become toxic after they are metabolized
Congestion and hemorrhage in CHF (nugmet liver)
Breaks down glucose
Hepatic lymphocytic infiltration and destruction of small intrahepatic bile ducts is found in:
Primary biliary cholangitis
Graft-versus-host disease
Wedge-shaped areas of hemorrhagic!! necrosis can happen in:
Pulmonary emboli
What cleans particles on alveoli, bronchi and nose? What is the size of the particles cleared?
*Nanoparicles less than 0.1μm go into the pulmonary capillaries
Alveoli, macrophages: clean particles smaller than 3μm
Bronchi, mucociliary escalator: clean particles bigger than 3μm
Nose, nasal vibrissae/shallowing: clean particles bigger than 10μm