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Hemato/Onco 1.1
UWORLD Hematology & Oncology Review
| Question | Answer |
|---|---|
| Cutaneous lymphatic drainage below the umbilicus, including the anus, is done by the ___________________________, except for the ________________ and ____________________, which drain to the _________ -___________ nodes. | Superficial Inguinal Lymph nodes; Glans penis and Posterior calf; Deep inguinal nodes. |
| Sickle cell patients are functional ___________________. | Asplenics |
| Asplenics patients have increased risk of? | Infection by ENCAPSULATED organisms |
| Which are encapsulated organisms? | Pseudomonas aeruginosa, Strep pneumoniae, H. influenza type B, Neisseria meningitidis, E. coli, Salmonella, Klebsiella pneumoniae, and Group B streptococcus |
| What is the most common cause of Osteomyelitis in Sickle cell patient? | Salmonella infection |
| Sickle cell patient with salmonella infection is higher risk of developing? | Osteomyelitis |
| Functions of vWF: | 1. binds to glycoprotein 1b receptors 2. carriers Factor 8 |
| vWF deficiency results in: | BT prolongation and +/- PTT may be prolonged |
| Treatment with __________________ stimulate the release of __________ for ________________. | Desmopressin; von Willebrand factor; epithelium |
| Hereditary bleeding disorder | von Willebrand disease |
| What is the main triad of symptoms seen in HUS? | 1. Acute kidney injury --> Jaundice and elevated Cr 2. Microangiopathic Hemolytic Anemia 3. Thrombocytopenia |
| What are the labs seen in HUS? | Decreased levels of Hb and PC, and increased levels of BT, lactate dehydrogenase, bilirubin, and BUN and Cr. |
| Most common organisms that cause HUS? | 1. Shiga-like toxin 2. E. coli O157;H7 |
| Schistocytes are associated in which disorders? | Microangiopathic hemolytic anemias, including DIC, TTP/HUS, HELLP syndrome, mechanical hemolysis (heart valve prosthesis) |
| Fragmented RBCs | Schistocytes |
| X-linked recessive disorder in affected males produce: | 1. UNAFFECTED SONS as they only receive Y chromosome 2. CARRIER DAUGHTERS as they only receive is X chromosome |
| What are the 9 most common XR disorders? | 1. G6PD deficiency 2. Fabry disease 3. Wiskott-Aldrich Disease 4. Ocular albinism 5. Hunter disease 6. Bruton agammaglobulinemia 7. Hemophilia A and B 8. Lesch-Nyhan Syndrome 9. Duchene (Becker) muscular dystrophy |
| Steps in development of inflammation | 1. Margination, 2. Rolling, 3. Activation, 4. Tight Adhesion and Crawling 5. Transmigration |
| Which step in inflammation involves neutrophils rolling into endothelium via losing PSGL-1, to L-selecting or to E-selectin/P-selectin. | Rolling |
| PECAM-1 protein is involved in _______________________. | Transmigration |
| Neutrophils migrate out of vasculature by squeezing between cells via the integrin and adherence to PECAM-1. | Transmigration |
| LAD Type 1 disease is a deficient in which step of inflammation? | Transmigration |
| Recurrent skin infection without PUS formation, delayed detachment of umbilical cord, and poor wound healing. Dx? | LAD type 1 disease |
| ICAM-1 protein is involved in ________________________, process of inflammation. | Tight adhesion and crawling |
| Mar-1 and LFA-1 are ______________________________, which have neutrophils then attached to the __________________ on endothelial cells. | CD18 B-2 integrins; ICAM-1 |
| Passage of circulating inflammatory leukocytes into damaged tissue. | Inflammation |
| What are the acute phase reactants involved in inflammation? | Ferritin, Fibrinogen, Serum Amyloid A, Hepcidin, C-reactive protein. |
| What process is responsible for eliminating T-cells that bind to self or MHC antigens with overly high affinity? | Negative Selection of T-cells |
| Where does negative selection occur? | Thymic medulla |
| Failure of ________________ selection often is the process of developing autoimmune disorders. | Negative |
| Which cells are created in negative selection? | Cytotoxic and Helper T cells |
| Which cells are to survive Positive Selection? | T-cells that express TCR. |
| A lack of TCR on a cell means ________________ | Apoptosis |
| Positive selection occurs ___________________ negative selection and it is located in the _________________________. | Before; Thymic Cortex |
| Which process is designed to create cells that recognize self? | Positive Selection |
| Benign leukocytosis (>50,000) that occurs in response to underlying condition such as severe infection | Leukemoid Reaction |
| Dohle bodies and Increased bands (N=3-5%), early mature neutrophil precursors (myelocytes) | Seen in PBS of Leukemoid reaction |
| Elevated LAP is seen in ________________________. | Leukemoid Reaction |
| Allopurinol inhibits ____________________, leading to an increased number of active metabolites. | Xanthine oxidase (XO) |
| ________________ is converted into active metabolites via the ______________ pathway and aided by _____________________ (enzyme) | 6-Mercaptopurine; TPMT pathway; Xanthine oxidase |
| Common histochemical marker for Epithelial cell carcinomas | Cytokeratin |
| What is keratin made of? | Glycine, which allows for the formation of H-bonds, and Cysteine with form sulfide bonds, increasing cell stability and strength. |
| p53: | tumor suppressor gene that controls cell division and apoptosis |
| In which stage of the cell cycle division does p53 act? | G1 phase |
| p53 mutation causes? | cell to advance to mitosis and keeps cell arrested in G1 phase, thus preventing apoptosis. |
| What syndrome or condition is associated with p53 mutation? | Li-Fraumeni syndrome |
| Li-Fraumeni is a collection of __________________, which include _____________, _____________, ______________, and ________________. | Malignancies; Sarcoma, Breast, Leukemia, and Adrenal gland |
| Another way to refer to Li- Fraumeni syndrome is? | SBLA syndrome |
| p53 activates _______, blocks ______ phase ---> ______ phase | activates p21; G1-phase --> S-phase |
| bcr-alb: | FUSION gene; associated with CML |
| Associated gene in CML | bcr-alb |
| Ras is a ___________________. Associated with the __________________ associated pathway. | proto-oncogene; MAP - Kinase pathway |
| What does Erb-2 encodes for? | Protein with Tyrosine kinase activity |
| Erb-2 is associated with _________________ and ________________ cancers. | Breast and Ovarian |
| N-myc is an ________________________, associated with _______________. | Proto Oncogene; Neuroblastoma |
| Burkitt's Lymphoma | C-myc |
| C-myc is the gene associated with ____________________________, while N-myc is associated with __________________________. | Burkitt's Lymphoma; Neuroblastoma |
| Repeated splenic infarction lead to a functional asplenic patient, which is seen in? | Sickle Cell disease |
| Replacement of glutamic acid on position 6 of hemoglobin B-chain, by Valine. Dx? | Sickle cell anemia |
| Sickle cell anemia is seen producing with type of anemia? | Intrinsic Hemolytic anemia with Extravascular and Intravascular hemolysis. |
| TWO Hemoglobin S genes leads to ---> | Sickle Cell anemia |
| How many Hb S gens are seen in Sickle cell disease? | ONE Hb S gene |
| Sickle cell patients have increased risk of developing an Aplastic crisis by the infection of which microbe? | Parvo B19 |
| Salmonella osteomyelitis is most often seen in _______________ patients. | SIckle cell |
| What is the treatment of Sickle cell anemia? | Hydroxyurea (to increase HbF) and proper hydration |
| Sickle cells are | Crescent-shaped RBCs |
| What factors precipitate Sickle cell anemia? | 1. Low O2 2. High altitude 3. Acidosis (decreased pH) |
| __________________ mode of action, causes inhibition of Proteins ____ and _____, leading to _____________________, especially if the patient has deficiency of those two proteins. | Warfarin; Proteins C and S; Skin necrosis |
| What are the 2 main MoA seen with Warfarin? | 1. Inhibition of vitamin K dependent gamma-carboxylation of clotting factors 2, 7, 9, 10. 2. Decrease carboxylation of Proteins C and S |
| Which Vitamin K dependent protein has a very short half life? | Protein C; it will be depleted in 1 day |
| How is warfarin-induced skin necrosis prevented? | Warfarin is started with Heparin, construct a "Heparin-bridge" to prevent skin necrosis caused by Warfarin. |
| Which is the long term anticoagulant, Heparin or Warfarin? | Warfarin |
| Warfarin acts on the _________________ coagulation pathway, and follows _______. | Extrinsic ; PT |
| Warfarin site of action is at the ________, and is considered a ______________. | Liver; Teratogen |
| What is used to reverse Warfarin toxicity? | Vitamin K (Slowly); FFP (rapid reversal) |
| What is monitored while using Heparin? | PTT and the intrinsic pathway |
| Purpose of the Heparin-bridge while starting patient on Warfarin | Reduce the risk of recurrent venous thromboembolism and skin/tissue necrosis |
| How is CN poisoning clinically presented? | Reddish discoloration, tachycardia, nausea, vomiting, confusion and weakness. |
| What is the main treatment of CN poisoning? | NITRATES, as they are OXIDIZING agents |
| CN poisoning treatment induces ____, which has Fe____ instead to Fe____, leading to CN to attach to _______. | Methemoglobinemia; Fe3+ instead of Fe2+; CN attaches to Fe3+ Leads to an overall decrease [CN] |
| CN toxicity treatment in steps: | 1. Induce Methemoglobinemia by giving nitrates that will trap the CN. 2. Following, give Thiosulfates to convert CN to thiocyanate and be renally excreted |
| Patient presents with dark blue -purple lips and bluish skin discoloration, and with chocolate-colored blood. Dx? | Methemoglobinemia |
| Treatment for methemoglobinemia | Methylene blue and vitamin C |
| Which water soluble vitamin is often used to treat methemoglobinemia? | Vitamin C |
| Which compound binds 200x times stronger to Hb than oxygen? | Carbon monoxide (CO) |
| CO bound to HB instead of O2 is? | Carboxyhemoglobin |
| Carboxyhemoglobin causes: | 1. Decreased oxygen-binding capacity with Left shift in O2-Hb dissociation curve 2. Decreased O2 unloading into tissues |
| What type of anemia is found in HUS? characteristic RBCs on PBS? | Hemolytic anemia with Schistocytes |
| MCC of TTP? | Decreased level of ADAMTS13 (metalloproteinase) |
| What is the role of ADAMTS13? | Cleavage of vWF multipliers |
| Hemolytic anemia, Thrombocytopenia, Fever, Neurological deficits, Renal disease are? | Pentad of symptoms seen in TTP |
| What are the most important or relevant symptoms of TTP? | 1. Hemolytic anemia (Elevated LDH, decreased Hepcidin), Schistocytes 2. Thrombocytopenia (Increased BT, normal PT/PTT) |
| Treatment for TTP? | 1. Plasma exchange 2. Glucocorticoids 3. RITUXIMAB |
| Large vWF multipliers --> Increased platelet adhesion --> Increased platelet aggregation and thrombosis. Description of the pathogenesis of? | TTP (Thrombotic Thrombocytopenic Purpura) |
| Defective platelet plug formation. Dx? | Bernard-Soulier syndrome |
| Glanzmann thrombasthenia | Defect in platelet integrin (GpIIb/IIIa) |
| Decreased GpIb is seen in ? Leads to? | Bernard-Soulier syndrome; leads to defective platelet -to-vWF adhesion |
| Platelet disorder seen with LARGE platelets | Bernard-Soulier syndrome |
| What platelet disorder exhibits abnormal or defective platelet-to-platelet aggregation? | Glanzmann thrombasthenia |
| Autoimmune platelet disorder? | Immune thrombocytopenia |
| Anti-gpIIb/IIIa antibodies are seen in: | Immune thrombocytopenia |
| Increased levels of MEGAKARYOCYTES in blood smear | Immune thrombocytopenia |
| Splenic macrophages "eat" or destroy the platelet-antibody complex. Pathogenesis seen in_____________________. | Immune thrombocytopenia |
| What is the composition of Anti-Rh immune globulin> | IgG anti-D antibodies, that OPSONIZE Rh+ fetal RBCs. |
| What cells prevent the Rh sensitization seen in Hemolytic disease of the newborn? | Reticuloendothelial macrophages clear the affected Rh+ fetal RBCs, and prevents maternal Rh sensitization |
| The Rh (-) mother, during the first pregnancy produces _______ antibodies, which cannot cross the placenta. | IgM |
| On second pregnancy of Rh(-) mother with Rh+ fetus, the mother has created _________________ antibodies, which are ______, and may cross the placenta and cause ___________________. | anti-RhD antibodies; IgG; Hemolytic Disease of the Newborn |
| Clinical presentation of Hemolytic Disease of the Newborn? | Jaundice, Kernicterus, Hydrops fetalis |
| XR disorders, classically seen hemarthrosis, intramuscular hematomas, and intracranial hemorrhage. Labs present increase in activated PTT, and normal PT and PC. | Hemophilia 8 and 9 |
| Hemarthrosis? | bleeding behind the knee. Associated sign of Hemophilia |
| Desmopressin is used in the treatment of which Hemophilia? | Hemophilia 8 |
| Coagulation disorders include; | 1. Hemophilia 8, 9, and 11 2. Vitamin K deficiency |
| Which parameter is always elevated in Coagulation disorders? | PTT |
| Why is PTT always elevated in Vitamin K deficiency and in all Hemophilias? | Affection of the Intrinsic coagulation Pathway yields an increase in PTT |
| PT is prolonged by affecting the ________________________ coagulation pathway. | Extrinsic |
| PTT is prolonged by affecting he _____________________ coagulation pathway. | Intrinsic |
| Which factors form part of the Extrinsic coagulation pathway? | Factor 7 |
| Factors 12, 11, 9, 8 are part of the _______________ coagulation pathway. | Intrinsic |
| DiGeorge syndrome exhibits? | Extreme deficiency in mature T-lymphocytes, which manifest in poor development of Lymph Node Paracortex |
| Failure of development of the 3rd and 4th branchial pouches is seen in: | Di George syndrome |
| What is agammaglobulinemia? | Absence of B-cells, preventing primary lymphoid follicles and germinal centers from forming in the Lymph Node Cortex |
| Which part of the Lymph node is affected in Di George syndrome? | Paracortex |
| Paracortex is undeveloped in ____________________ syndrome. | Di George |
| The cortex of the lymph node is affected and thus produces? | Agammaglobulinemia |
| Activation of the ______ leads to _____________________. | Rb ; Hypophosphorylation |
| Mutated Rb results in? | inactive or Hyperphosphorylated Rb |
| A hyperphosphorylated Rb gives rise to: | 1. Retinoblastoma 2. Osteosarcoma |
| Which RNA polymerase is restricted to the nucleus? | RNA pol 1 |
| RNA pol 1 role? | Essential for RIBOSOMAL compounds |
| RNA pol 1 encodes for? | rRNA |
| RNA pol 2 encodes for which forms of RNA? | mRNA, snRNA, and microRNA |
| What is the role of mRNA? | Translation at ribosomes to form proteins |
| Involved in mRNA splicing and transcription regulation | snRNA |
| Which type of RNA causes gene silencing? By what RNA pol is it encoded? | RNA pol II encodes for microRNA which is responsible for gene silencing |
| RNA pol III encodes for which 2 types of RNA? | tRNA and 5srRNA |
| Adaptor molecule linking codons with specific amino acids | tRNA |
| Common complication of C. trachomatis or N. gonorrhea sepsis, or acute Pancreatitis, or burn injury is? | Disseminated Intravascular Coagulopathy (DIC) |
| DIC labs show elevated levels of __________________________, and a decrease in __________. | Increased: PT, PTT, BT, and D-dimer Decreased: PC, fibrinogen, and factors 5 and 8 |
| Acanthocytes are seen in: | Liver disease and in Abetalipoproteinemia |
| How else are acanthocytes referred as? | "Spur" cell as they are pointy or spike cells |
| Proper name for "Bite cells" | Degmacytes |
| Bite cells are seen in ________________________. | G6PD deficiency |
| Which cells are seen in HbC disease, Asplenia, Liver disease, and Thalassemias? | Target cells |
| HALT | Mnemonic used to describe disorders/conditions that present Target cells |
| Small, spherical cells without central pallor | Spherocytes |
| Spherocytes are associated to which pathologies? | 1. Hereditary spherocytosis 2. Drug-and-infection induced hemolytic anemia |
| Another name for Echinocytes? | Burr cells |
| Echinocytes or Burr cells are seen in: | End-stage renal disease and Pyruvate Kinase deficiency |
| What disorders present Basophilic Stippling? | Sideroblastic anemias (lead poisoning, myelodysplastic syndromes), thalassemias |
| The aggregation of residual ribosomes is known as ________________________. | Basophilic stippling |
| BCL-2 is associated with _____________________ lymphoma. | Follicular |
| What is the translocation associated with Follicular lymphoma? Gene involved in Follicular lymphoma? | t(14:18); bcl-2 gene |
| Development of Hyperphosphatemia, Hypocalcemia, hyperkalemia and Hyperuricemia, in the treatment of lymphoma, are due to? | Tumor Lysis syndrome |
| What drugs are used in chemotherapy of a Leukemia or Lymphoma, in order to prevent Tumor Lysis syndrome? | Allopurinol and Rasburicase |
| Allopurinol is an _______________ inhibitor,and Rasburicase is a ___________________ inhibitor. | Xanthine oxidase (XO) ----- Allopurinol Urate oxidase (UO) ---------- Rasburicase |
| What enzymes are used during Purine Catabolism pathway? | First Xanthine oxidase is used to form Uric acid form Hypoxanthine. Then, urate oxidase, converts uric acid into allantoin. |
| Common LMWH | Enoxaparin |
| Enoxaparin activated ______________ which then binds to ___________, which causes a halt in the conversion of _______________ to ________. | Antithrombin III; Factor Xa; Prothrombin to Thrombin |
| What is the common symptom triad seen in Aplastic anemia? | 1. Low Hb 2. Absent hematopoietic cells in Bone marrow 3. Thrombocytopenia |
| The low levels of Haptoglobin seen in aplastic anemia, lead to the development of _______________________________. | Intravascular hemolysis |
| Low haptoglobin ---> | Intravascular hemolysis |
| Increased LDH ---> | Hemolytic anemia |
| Low Hb and Increased EPO synthesis ---> | Aplastic anemia |
| If aplastic anemia presents with Increased levels of EPO and LDH, and low levels of Hb and haptoglobin, thus it describes the pathology as? | Aplastic HEMOLYTIC anemia, with INTRAVASCULAR hemolysis |
| Decreased Haptoglobin is seen in: | 1. Intravascular hemolysis (Hereditary spherocytosis, PK deficiency, autoimmune hemolytic anemia, transfusion reactions) 2. Extravascular hemolysis (intraperitoneal hemorrhage) 3. Intramedullary hemolysis (thalassemias, sideroblastic anemia, megaloblastic anemia) 4. Burns, pregnancy, and genetics |
| Elevated Haptoglobin (>40) is associated with which pathologies? | 1. Diseases with an elevated ESR (trauma, infection, hepatitis, amyloidosis, collagen diseases, lymphoma, and leukemia) 2. Obstructive biliary diseases 3. Dry, aplastic anemia 4. Increased estrogen 5. Nephrotic syndrome |
| Haptoglobin binds to_____________________________, causing inhibition of oxidative activity. | Free hemoglobin |
| What the most two common side effects of OPIOID therapy? | Constipation and Miosis |
| What receptors are used by opiods? | Mu receptors |
| Opioid therapy causes stimulation of the ______ receptors in the ______ tract, causing a __________________ in secretions and __________________. | Mu receptors; Gastrointestinal tract; decrease; Gastric mobility |
| Leukemoid reaction has a similar presentation to? | CML |
| WHat is the clinical presentation seen in Leukemoid reaction and CML? | Leukocytosis and an imbalance of LAP. |
| CML has an ____________________ LAP, while in Leukemoid reaction, the LAP is ___________________. | CML---- decreased Leukemoid reaction ---- normal |
| CML diagnosis is done by: | 1. Philadelphia chromosome t(9;22) 2. BCR-ALB fusion gene 3. mRNA 4. Decreased level of LAP 5. Leukocytosis |
| t(9;22) | Philadelphia Chromosome (CML) |
| In which highly proliferative malignancy is the Philadelphia chromosome associated? | CML |
| Inflammatory changes in lymph node, which can be either reactive hyperplasia and malignant transformation | Lymphadenopathy |
| Reactive Hyperplasia is classified by: | 1. Follicular hyperplasia (follicles increase in size and number) 2. Sinus Hyperplasia (sinuses enlarged and fill with Histiocytes) 3, Diffuse hyperplasia (normal structure, diffused with sheets of lymphocytes immunoblasts and macrophages |
| Polygonal response of lymph node cells is seen in? | Reactive Lymphoid Hyperplasia |
| Proliferation of different cell types within the lymph node | Reactive Lymphoid Hyperplasia |
| Different stimuli --> different cell-lines | Reactive Lymphoid Hyperplasia |
| Monoclonal TCR | Malignant transformation |
| Uncheck proliferation of 1 cell line | Malignant transformation |
| "Starry-sky" appearance | Burkitt's Lymphoma |
| t(8;14) | Burkitt's Lymphoma |
| c-MYC | Burkitt's Lymphoma |
| Jaw lesion (mass) most commonly seen in young adults. Endemic in Africa | Burkitt's Lymphoma |
| Burkitt Lymphoma is associated with ________________ (virus) | EBV |
| Tingible body macrophage is often seen in histological view of: | Burkitt's Lymphoma |
| t(11:14) is associated with: | Mantle Cell lymphoma |
| Mantle cell lymphoma shows translocation __________________, which is a mutation of the __________________________. | t(11;14); cyclin D1 locus |
| What aspect to the cell cycle is affected in Mantle cell lymphoma? | G1 to S-phase transition |
| Most common type of NON-Hodgkin lymphoma in adults | Diffuse large B-cell lymphoma (DLBL) |
| What genetic alterations are seen in Diffuse large B-cell lymphoma? | Bcl-2 and Bcl-6 |
| Very aggressive lymphoma, CD5+, and usually presents in late-stage disease. | Mantle cell lymphoma |
| Indolent course (Non-Hodgkin) | Follicular Lymphoma |
| Painless "waxing and waning" lymphadenopathy | Follicular Lymphoma |
| Which Non-Hodgkin Lymphoma is associated with states of chronic inflammation? | Marginal zone Lymphoma |
| Marginal zone Lymphoma is associated to which common disorders? | Sjogren syndrome and chronic gastritis (MALT lymphoma) |
| NH B-cell lymphoma seen most commonly in adult MALES? | Mantle Cell lymphoma |
| Primary CNS lymphoma is considered an __________________. | AIDS-defining illness. |
| Solitary or single ring enhancing lesion in on the MRI of an HIV + patient, indicates? | Primary CNS lymphoma |
| Non-Hodgkin T cell lymphomas are: | 1. Adult T-cell lymphoma 2. Mycosis fungoides/ Sezary Syndrome |
| What neoplasm is associated with HTLV-1 and IV drug abuse? | Adult T-cell lymphoma |
| Japanese male with Hx of IV drugs use, presents cutaneous lesions, and a lab panel showing hypercalcemia. X-ray of bone show Lytic bone lesions | Adult T-cell lymphoma |
| Skin patches/plaques; CD4+ cell with "cerebriform" nuclei and intraepidermal neoplastic cell aggregates | Mycosis fungoides/ Sezary Syndrome |
| Mycosis fungoides may progress to ___________________. | Sezary Syndrome (T-cell leukemia) |
| Clinical signs of Megaloblastosis? | Acute/chronic pancreatitis, hepatomegaly, +/- jaundice, Megaloblastic anemia due to Vitamin B12 deficiency |
| Vitamin B12 deficiency: | Common cause Megaloblastic anemia, as it impairs the synthesis of Purine and Pyrimidine bases |
| What is the difference in symptomatology between megaloblastic anemia caused by Vit B12 deficiency and Folate deficiency? | Vitamin B12 deficiency cause neurological symptoms, wand Folate deficiency does not produces any neurological symptoms. |
| What are the reasons/causes of the rapid increase in cell death during radiation therapy? | 1. Increase breakage of dsDNA structures 2. Increase oxygen free radicals |
| What is a key characteristic of Sickle cell TRAIT? | Protection against Malaria caused by P. falciparum |
| Features of Sickle cell Trait: | 1. NO symptoms of Sickle cell anemia 2. No change in life expectancy 3. Inherited protection against P. falciparum malaria 4. HbA > HbS |
| HFE protein mutation: | Hemochromatosis |
| What are the resulting effects of Hemochromatosis' mutated HFE? | 1. Decrease in Hepcidin synthesis by hepatocytes and, 2. Increase DMT1 expression by enterocytes, 3. IRON OVERLOAD |
| Which condition is defined or characterized by Iron overload? | Hemochromatosis |
| What are some complications seen in Hemochromatosis? | Heart failure, "Bronze" diabetes, and increased risk of developing HCC. |
| What is the PRIMARY iron lab disturbance in Hemochromatosis? | Elevated serum iron levels |
| Hemochromatosis is associated with which two kind of cardiomyopathies? | Dilated and Restrictive |
| Key regulator of the ENTRY of iron into circulation | Hepcidin |
| High levels of Hepcidin would lead to _______________________, as more _____________ gets trapped inside cell and not transported out. | Anemia; Iron |
| Low levels of Hepcidin mean? | There is nothing impeding the efflux of iron from enterocytes into circulation, thus increasing gut iron absorption, ultimately leading to iron overload, as seen in hemochromatosis. |
| Angiogenesis is induced by: | VEGF and FGF |
| VEGF and FGF are key stimulation of ___________________ seen in neoplastic and granulation tissue. | Angiogenesis |
| VEGF function: | Acts on many tissues, and increases motility and proliferation, leading to new capillaries |
| involved in endothelial cell proliferation, migration, and differentiation. | FGF |
| What cytokines promote the expression of VEGF? | IL-1 and INF-g |
| Missense mutation in position 6 of Hb B-chain. | Sickle cell disease |
| GAG ---> GTG | Sickle cell disease |
| Sickle cell disease | Glutamic acid replaced by Valine in position 6 of Hb B-chain |
| What are the skin, GI, pulmonary and cardiovascular manifestations of Carcinoid syndrome? | Skin flushing, GI watery diarrhea, pulmonary bronchospasm, and cardiovascular valvular, fibrous plaque formation |
| Octreotide? | MC treatment of Carcinoid syndrome |
| Elevated 5-HIAA in 24 hour urine collection often indicates? | Carcinoid syndrome |
| Octreotide is an _________________________ analogue, used to treat _________________ syndrome. | Somatostatin analogue; Carcinoid |
| Deficiency of Porphobilinogen deaminase leads to | Acute Intermittent Porphyria (AIP) |
| AIP is due to deficiency in ______________________ | Porphobilinogen deaminase |
| Abdominal pain, peripheral neuropathy, neuropsychological deficits, and reddish (port-wine)-brown urine | Symptoms of AIP |
| WHat is the treatment of AIP? | IV glucose to downregulate ALA synthase |
| AIP treatment with glucose downregulates what enzyme? | ALA synthase |
| What is the old name for Porphobilinogen deaminase? | Uroporphyrinogen I synthase |
| What is products are accumulated in AIP? | Porphobilinogen and ALA |
| 5 P's of AIP: | 1. Painful abdomen 2. Port-wine -colored urine 3. Polyneuropathy 4. Psychological disturbances 5. Precipitated by drugs (CYP450 inducers), starvation, alcohol |
| Ferrochelatase and/or ALA dehydratase are inhibited in: | Lead Poisoning |
| Increased serum ALA levels and accumulated Protoporphyrin, indicated what diagnosis? | Lead Poisoning |
| Lead poisoning leads to development of _______________ anemia, GI and kidney disease. | Microcytic |
| Basophilic stippling in PBS and ringed sideroblasts in bone marrow. | Macrocytic anemia in lead poisoning |
| Blistering cutaneous photosensitivity is seen in? | Porphyria cutanea tarda |
| Which porphyria is associated to Hepatitis C virus infection? | Porphyria cutanea tarda |
| What is the MC porphyria? | Porphyria cutanea tarda |
| Enzyme mutated/deficient in PCT? | Uroporphyrinogen decarboxylase |
| PCT and AIP are both autosomal __________________________ disorders. | Dominant |
| Which heme synthesis enzymes act/work in the MITOCHONDRIA? | Ferrochelatase and ALA synthase |
| Which enzyme is the rate-limiting step in heme synthesis? | ALA synthase |
| Which ALA enzyme is deficient/mutated in Lead poisoning? | ALA dehydratase |
| ALA dehydratase, Porphobilinogen deaminase, and Uroporphyrinogen decarboxylase, all work in the? | Cytoplasm |
| The replacement of glutamic acid by Valine in Sickle cell disease, promotes the? | Hydrophobic intearaction among Hb molescus leading oth HbS polymerization and erythrocyte sickling |
| What factors are promoters of RBC sickling? | 1. Low O2 levels 2. Increased acidity (decreased pH) 3. Dehydration |
| Another term used for FIBRINOLYTICS? | Thrombolytics |
| Alteplase, reteplase, streptokinase, are all examples of? | Thrombolytics |
| What can inhibit Fibrinolytics directly? | aminocaproic acid |
| Bone marrow failure caused by Hematopoietic stem cell deficiency. Describes the pathogenesis of ? | Aplastic anemia |
| Fanconi anemia is known to be causative reason of developing _____________________ anemia | Aplastic anemia |
| ParvoB19 and EBV are known microbial organisms that develop _____________ anemia. | Aplastic anemia |
| What drugs are known to cause or promote development of aplastic anemia? | Carbamazepine, Chloramphenicol, sulfonamides |
| What is a clinical sign of aplastic anemia? | Pancytopenia |
| WHat is Pancytopenia? | Decreased levels of Hb, platelet count, and low WBC levels. |
| In Pancytopenia, the laboratory abnormalities lead to what kind of clinical manifestations? | Fatigue, weakness, and pallor by anemia, mucosal bleed, easy bruise, and petechiae by thrombocytopenia, and recurrent infection by the low WBC count. |
| Hypocellular bone marrow biopsy, composed of fat and stromal cells? | Aplastic anemia |
| What is a key component of MDR1, that is related to chemotherapy tolerance? | P-glycoprotein |
| What gene may be mutated during chemotherapy, leading to resistance of the treatment? | MDR1 |
| In hemochromatosis, there is accumulation of ________________, which is of _________________ or ______________ pigment. | Hemosiderin; Yellowish or Brown pigment |
| ______________ is very common among _____________ population and those ___________- +. | G6PD deficiency; Black; HIV |
| What some factors that precipitate G6PD deficiency? | 1. Infections 2. Drugs (Dapsone, Antimalarials, sulfonamides, 3. DKA, and 4. Favism |
| Important RBC findings on G6PD deficiency PBS? | 1. BItce cells and, 2. Heinz bodies |
| Decreased in reduced glutathione level | G6PD deficiency |
| African american patient presents with back pain, and hemoglobinuria few days after consuming fava beans. Dx? | G6PD deficiency |
| What is the MC RBC enzymatic disorder? | G6PD deficiency |
| G6PD deficiency is categorized as an ____________________ hemolytic anemia, exhibint _________________ and ______________ hemolysis. | Intrinsic; Extravascular and intravascular hemolysis |
| Which are the intrinsic hemolytic anemias? | Hereditary Spherocytosis, G6PD deficiency, PK deficiency, Paroxysmal nocturnal hemoglobinuria, Sickle cell anemia, and HbC disease. |
| Autoimmune hemolytic anemia is a ___________________ anemia. | Extrinsic Hemolytic anemia |
| What is the clinical presentation of Hereditary Spherocytosis? | 1. Hemolytic anemia, 2. Jaundice, 3. Splenomegaly |
| What are some common complications of Spherocytosis? | Pigmented Gallstones, and Aplastic crisis due to B19 infection. |
| Increased MCHC, spherocytes, NEGATIVE Coombs test, and increased fragility on acidified glycerol lysis test of RBC. Dx? | Hereditary Spherocytosis |
| Which condition is described by patient that bleeds, the coagulation cascade is activated, PT and PTT aer prolonged, as well as BT, and there is a decrease in fibrinogen, and an increased of D-dimer. | DIC |
| TTP/HUS: | Patients don't tend to bleed, only platelets are activated, tehr are normal levels of PT, PTT, and fibrinogen. |
| Hypercellularity of bone marrow is seen with: | Myelodysplastic syndromes |
| AML subtype M3 | Affects adults and is associated with DIC |
| t(15;17) | AML subtype M3 |
| PML/RARx fusion gene is associated with | AML subtype M3 |
| What is the treatment for PML? | Trans-retinoid acid |
| Bone marrow failure and infiltration of RETICULOENDOTHELIAL system causing massive SPLENOMEGALY. | Hairy cell leukemia |
| Hairy cell leukemia characteristics include: | 1. DRY TAP -- unsuccessful bone marrow aspiration 2. Presence of lymphocytes with cytoplasmic (hair-like) progenctions |
| Unsuccessful bone marrow aspiration is known as, ______________, and it is associated with ___________________________. | DRY TAP; Hairy cell leukemia |
| HER-2 is a ___________________ receptor. Extrepessin in 20% of _______ cancer. Its most common treatment is ___________________, a monoclonal antibody that down regulates cellular proliferation and promotes apoptosis. | Tyrosine Kinase receptor; Breast Cancer; Trastuzumab; |
| What is the most common use for Trastuzumab? | HER-2 (+) breast cancer and gastric cancer |
| Another name for Trastuzumab? | Herceptin |
| Monoclonal antibody against HER-2 (c-erbB2) | Trastuzumab |
| Which breast cancer drugs is also useful to prevent Osteoporosis in postmenopausal women? | Raloxifene |
| What cancers are associated with Rb (tumor suppressor gene) mutation? | Retinoblastoma and Osteosarcoma |
| EPO-stimulated hyperplastic marrow cell invasion of extramedullary organs, describes what process? | Extramedullary Hematopoiesis |
| What is the MCC or MC condition in which extramedullary hematopoiesis is seen? | Chronic hemolytic anemias such as B-Thalassemia |
| What is the physical characteristics seen in a patient with extramedullary hematopoiesis? | Pathologic fractures in children, maxillary overgrowth and frontal bossing "Chipmunk" face |
| What conditions produce a "Chipmunk facie"? | B-Thalassemia major, Bulimia nervosa, and Parotid swelling |
| Left renal thrombosis commonly develops? | Varicocele |
| Nephrotic syndrome is considered a _____________________ state, leading to increase risk of renal thrombotic events. | Hypercoagulable |
| What is used to stop the bleeding in a Hemophiliac patient? | Thrombin |
| Hb precipitation seen in G6GP deficiency patients | Heinz bodies |
| Basophilic nuclear remnants found in RBCs | Howell-Jolly bodies |
| What conditions exhibit Howell-Jolly bodies? | Hyposplenia and Aspenics |
| The reticulocyte count separates normocytic anemias into? | Non-hemolytic and Hemolytic anemias |
| An elevated Reticulocyte count is defined as ________________%, and indicates __________________ anemias. | > 2%; Hemolytic anemia |
| Which are the NON-hemolytic anemias? | 1. Iron deficiency (early) 2. Anemia of chronic disease 3. Aplastic anemia 4. Chronic kidney disease |
| Hemolytic anemias are further divided into _______________ and ___________________. | Intrinsic and Extrinsic |
| Intrinsic Hemolytic anemias are due to: | 1. Membrane defects 2. Enzyme deficiencies 3. Hemoglobinopathies |
| 1. Hereditary Spherocytosis 2. Paroxysmal Nocturnal Hemoglobinuria | Intrinsic Hemolytic anemias caused by membrane defects |
| What are example of causes of Enzyme deficiencies resulting Intrinsic hemolytic anemias? | 1. G6PD deficiency 2. Pyruvate kinase deficiency |
| Sickle cell anemia and HbC diseases are causative of _____________ hemolytic anemias, and classified as hemoglobinopathies. | Intrinsic |
| Fanconi anemia, is a condition affecting the DNA repair, and classified as a ___________________ anemia. | Megaloblastic anemia |
| Non-Megaloblastic anemias: | 1. Diamond-Blackfan anemia 2. Liver disease 3. Alcoholism |
| What conditions/disorders cause Megaloblastic anemia due to defective DNA synthesis? | 1. Vitamin B12 deficiency 2. Vitamin B9 (Folate) deficiency 3. Orotic aciduria |
| Defective Heme synthesis, yields what kind of anemias? | Microcytic anemia |
| What are causative disorders that result in Microcytic anemia due to poor or defective heme synthesis? | Iron deficiency (late), lead poisoning, sideroblastic anemia, and anemia of chronic disease |
| Defective globin chain, is seen with? | Thalassemias, which result in Microcytic anemias |
| Hb Barts | No alpha-globin; Hydrops fetalis |
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rakomi
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