Rando definitions Flashcards by Tyler Brown

Epigenetic changes

modulation of gene expression without altered DNA sequence

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Mutation of which gene results in abnormal fibrilin of Marfan syndrome?

-FBN1

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Functions of vitamin C

formation and stabilization of collagen
conversion of tyrosine to catecholamines
role as an antioxidant

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Hemorrhages are common findings in scurvy where in the body could you look?

skin
gingival mucosa
joints
behind eye
subarachnoid space
brain

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Large doses of vitamin C are excreted in the urine and can lead to what?

-increases chance of stone formation

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What are the general characteristics of disorders of primary hemostasis?

mucocutaneous bleeding

- lab- prolonged bleeding time and thrombocytopenia

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What are the general characteristics of disorders of secondary hemostasis?

soft tissue bleeding

- lab- prolonged PT and/or PTT and/or thrombin time

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What are the general characteristics of disorders of the regulatory system?

soft tissue bleeding

- lab- normal in screening tests

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hemoptysis

-coughing up blood

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dyspnea

difficulty breathing, perception of needing to breathe deeper and faster

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atelectasis

collapse or loss of lung volume, inadequate expansion of airspaces

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pneumothorax

air in pleural space, leads to collapse of the lung

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pleural effusion

fluid in pleural space

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empyema

suppuration in pleural cavity, often related to bacterial infection

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Main causes of fluid accumulation in the lungs

increased intravascular pressure
hypoproteinemia
vascular damage

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Main cause of lobar pneumonia?

-S. pneumoniae (90%)

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Main causes of interstitial pneumonia?

viruses

- mycoplasma pneumoniae

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What is the classic tissue reaction tuberculosis?

-caseating granuloma

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The site of an early Tb infection is callled?

-Ghon lesion

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This is a Tb parenchymal lesion + hilar lymph nodes

-ghon complex

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Granulomatous inflammation is found outside of Tb in what other diseases?

histoplasmosis

- sarcoidosis

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This is what smart people call iron accumulation in the proximal tubular cells in the kidney that is lost in the urine when these cells are shed

-hemosiderinuria

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What is pernicious anemia?

autoantibodies against intrinsic factor

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What are the two major pathogenic theories of aplastic anemia?

an acquired defect in stem cell production

- suppression of stem cells by T lymphocytes

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When normal hematopoeitic cells in the marrow are crowded out by tumor or fibrosis

-myelophthisic anemia

Polycythemia vera

- non-regulated/neoplastic proliferation of red cells and myeloid cells - treatment is removal of excess RBC by phlebotomy

Enlargement of lymph nodes, liver and spleen is more common in what kind of leukemia?

-Acute lymphoblastic leukemia

What cytoplasmic inclusion is characteristic to acute myelogenous leukemia?

-Auer rods

Which leukemia can be found with B cells that have IgM kappa surface immunoglobuin and high expression of BCL2

-Chronic lymphocytic leukemia

This type of leukemia is marked by a general increase of many types of blood cells and due to Philiadelphia chromosome issues

-chronic myelogenous leukemia

Which leukemia has a terminal phase where there is an increase in immature blood cells in the bone marrow and decreased response to treatment called blast crisis

-chronic myelogenous leukemia

This is a plasma cell disorder where high levels of Ig leads to Bence Jones Proteinuria

-Multiple myeloma

Marfan genetic

Autosomal dominant

Familial hypercholesterolinemia

iomitapide | frequency of 1-500

Phenyketonuria

Autosomal recessive | phenylalanine hydroxylase

Lysosomal storage diseases

Autosomal recessive

Hurler disease

Autosomal recessive | deficiency if alpha-L-iduronidase

Hunter syndrome

X-linked | deficiency of L-iduronate sulfatase

Aneuploidy

any number that is not an exact multiple of the normal chromosome count

Trisomy 21

meiotic non-dysjunction of chromosome 21 during formation of ovum

Turner syndrome

Due to partial or complete absence of one of the X chromosomes

Peripheral vasodilation due to heat stroke causes...

pooling and decreased circulating blood volume Can lead to DIC High mortality rate for athletes

Direct effects of local freezing of cells and tissues

- due to crystallization of water | - frostbite

Indirect effects of hypothermia

- due to circulatory changes | - trench foot gangrene

Systemic reaction of hypothermia

-disorientation, including paradoxical undressing

Marasmus

- deficiency of caloric intake - loss of muscle mass - somatic protein compartment is depleted

Kwashiorkor

- greater deficiency of protein than total calories | - severe loss of visceral protein compartment

Acute toxicity of Vitamin A

nausea, vomiting, blurred vision

Chronic toxicity of vitamin A

anorexia, hair loss, pruritis

Intrinsic pathway

K-12 12a-11 11a-9

Extrinsic pathway

-Factor 7 by tissue factor

Common pathway

10-10a prothrombin to thrombin fibrinogen to fibrin

Fibrin clot crosslinked by...

Factor 13

Antithrombin II in the presence of what causes thrombin complex?

Heparin

What mutation inactivates the Protein C/S complex?

factor 5 leiden

IN the presence of fibrin, what converts plasminogen to what?

- tissue plasminogen activator | - plasmin

PT measures what drug?

-coumadin/warfarin

PTT measures what drug?

-heparin

What situation of a mixing study is indicative of an inhibitor?

-if mixing does not correct clotting time

Genetics of von willebrand disease

autosomal dominant

Hemophilia A genetics

X-linked recessive

Hemophilia B genetics

X-linked recessive

3 reasons for pulmonary edema

- increased intravascular pressure - hypoproteinemia - vascular disease

Bronchiectasis what is it and what are predisposing factors?

- chronic infection with permanent airway dilation | - other COPD, CF, scarring

ARDS is due to what injury?

-endothelium and alveolar epithelium

Disseminated Tb is called what?

-miliary TB

Reasons for Crescentic Glomerulonephritis

- AntiGBM antibody disease- 12% - Immune complex 44% - pauci-immune 44%

What syndrome can lead to renal cell carcinoma

-von Hippel-lindau syndrome

Two autosomal codominant hemolytic anemias

- thalassemia | - sickle cell anemia

hereditary spherocytosis genetics

-autosomal dominant

G6PD deficiency genetics

-x-linked

Hydronephrosis

Dilation of renal pelvis/calyces with parenchymal atrophy secondary to obstruction Other causes of hydronephrosis: congenital urinary tract obstructions, enlarged prostate, neoplasms, neurogenic bladder, pregnancy, renal stones

Neurofibromatsosis

autosomal dominant disease with nearly 100% penetrance; relatively common (1/3,000 live births)  

Cavitary TB

Apex; significant scarring; may seed the large airways, lymph nodes, or blood; direct extension to the pleura (effusion)