UNIT 3 | Baamboozle - Baamboozle | The Most Fun Classroom Games!

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Explain the significance of elevated LDH and Uric acid in the presentation of CML

LDH: high turn over of cells-excess cell lysis; Uric Acid-breakdown of cellular nucleic acid contents of leukemia cells

Explain the role of parvovirus B19 in the development of acute anemia (aplastic) crisis with chronic spherocytosis

Parvovirus infects and destroys RBC progenitors in the bone marrow, can halt production of RBCs for 1-2 weeks until immune system controls the infection

What are 3 prominent features preseent on the peripheral blood smear of a patient with Sickle Cell disease?

Howell-Jolly Bodies (hyposplenia), Sickled red cells, polychromasia (reticulocytotic)

What is the role of CD99 stain in developing diagnosis in Ewing Sarcoma?

Cell-surface transmembrane protein that is highly expressed in Ewings Sarcoma

What is the most distinguished clinical feature you would see on a patient with FH?

Xanthomas

What does LMNA code for in and why is it so important in development of progeria?

LMNA codes for Lamina A-protein that acts as scaffolding on the inner side of the nucleus->farnesyl stays on lamina A->piles on=abnormal nuclear envelop

How does p53 signaling and senescence interact with aging and progeria?

DNA damage->lamina disrupted->chromatin conformation distress->increase p53 signaling->increase cell/tissue senescence= accelerated aging

Why does a person with a G6P deficiency need to eat corn starch?

corn starch is a glucose polymer that is broken down slowly = control glucose levels

What are the guidelines for breast cancer screening

Women aged 50-74, riskier screen ages 40+; mammogram only

Describe the DNA damage that occurs from ultraviolet (UV) radiation and explain how this damage can lead to cancer

UVB causes thymine base pairs to bind to each other->pyrimidine dimers; UVA->ROS=damage DNA repair proteins=cancer

Rationalize the vital signs in a child with Sickle Cell disease: Fever + Tachypnea + Tachycardia + Pain + Hypotensive

Fever (chest infection) + Tachypnea (RR, low o2 stat); Tachycardia (HR, low o2 stat) + Pain (bone infarction) + hypotensive (hypovolemia, pulmonary edema)

What is the pathophysiology of hereditary spherocytosis?

Primary membrane defect (akryin gene-> spectrin protein)-> membrane loss-> spherocyte forms-> splenic trap->erythrostasis = phagocytosis extravascular hemolysis

In reference to anabolic and catabolic, what is Glycogenesis? What is Glycogenolysis?

Glycogenesis - anabolic (create glycogen to be stored); Glycogenolysis- catabolic (break down glycogen to useable glucose)

Differentiate the causes and inheritance patterns of the major types of vWD (Type 1, 2, 3)

Type 1: partial deficiency-quantity, autosomal dominant; Type 2: qualitative variant, AD/some AR; Type 3-severe quantitative-missing vWF, Autosomal Recessive

What are common symptoms of anemia you see in patients with CML?

Anemia -> lower oxygenation of blood->body compensates = pallor, dyspnea, tachycardia

Discuss the role of factor V in blood clot formation (coagulant) & hemostatic (anticoagulant) regulation

Factor V synthesized in liver; Thrombin activates Factor V-> prothrombin to thrombin; Factor V cofactor aPC to degrade VIII/VIIIA= reduce thrombin formation

Describe different screening and diagnostic test for colorectal cancer

Physical exam, digital rectal exam, Fecal Occult (stool based tests), Colonoscopy

Explain the mechanism behind the APC/β-catenin pathway in the development of colorectal cancer

Loss APC function->β-catenin accumulates->complex w DNA->increases MYC->proliferation

what are the classic signs and symptoms someone with vWF will present with?

Nosebleeds (epistaxis); Bleeding from mucosal surfaces; Easy bruising; heavy menstural bleeding; longer bleeding after dental work/surgery/injury

Discuss the TNM classification of malignancy and colorectal cancer

T: extent/size of tumor (how far grown in wall colon-mucosa, muscularis properia, suberosa/serosa); N: spread to nearby lymphs; M: metastasis to distant organs

Describe the general appearance of cutaneous melanoma with the ABCDE criteria

A: Assymetrical; B: blurry border; C: more than 1 color; D: diameter>6mm; E: evolution of mole sudden change in shape/size/color

what are 3 drugs that can treat Factor V Leiden and briefly explain their MOA

1. Warfarin-block carboxylation of prothrombin/VII/X & proteins C/S->deactivates Vitamin K; 2. Dabigatran-inhibit thrombin; 3. Rivaroxaban-direct Xa inhibitor

Summarize the two main roles of vWF in the process of clot formation

1.primary hemostasis- PLT adhesion; 2.secondary hemostasis- vWF complexes VIII->prolong half-life VIII (prevent its degradation)->complex IX->activate X

Contrast the pathogenesis of TTP with that of HUS

HUS: shiga toxin->ADAMTS 13 inhibition->failure to cleave vWF multimers; TTP: ADAMTS13 antibodies/congenital ADAMTS13 mutation->failure to cleave vWF multimers

Explain the main 3 factors in the pathophysiology behind Normocytic Anemia (where does TTP, HS, SCD fit within a factor)

1. Defects in RBC environment (TTP); 2. Defects in RBC membrane (HS); 3. Defects in RBC internal contents (SCD)

What are common radiological findings in Ewing Sarcoma?

Interrupted periosteal reaction; Moth-eaten bone destruction; ill-defined border; soft tissue mass accumulation around bone tumor

Identify common risk factors for breast cancer

genetics (BRCA1/2, HER2); Demographics (female, older); prolonged estrogen exposure; Previous cancers/radiation; Lifestyle (alcohol, BMI, smoking)

What will the lab findings be for a patient with vWF disease and why: Bleeding time, PT, aPTT

Bleeding time- prolonged (impaired platelet plug formation; PT: normal (extrinsic fine); aPTT: prolonged (reduced VII->impaired intrinsic)

Describe the pathophysiology of FH

Elevated LDL at birth due to lack of LDL clearance from plasma (absent/disorder LDL receptors)

Discuss the role of specific mutations in cell signaling genes in the development of cutaneous melanoma: BRAF, RAS, C-KIT

BRAF-V600E mutation=proliferation; RAS-cell cycle kinetics (proliferative/survival); C-KIT-tyrosine kinase receptor=growth factor bind site-turn on cascade

What are foamy macrophages and their role in FH?

Lipoproteins sequestered -> pro inflammatory -> phagocytes -> cholesterol -> foamy = LDL filled macrophage

What is the characteristic translocation associated with Ewing Sarcoma?

location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation; EWS (EWSR1) gene is involved in translocations in Ewing's sarcoma

Explain why these lab findings are abnormal in a patient with HS: Hb, Hct, MCV, total bilirubin, LDH, HPV B19

Hb-low, lifespan HS erythrocytes; Hct-low,insuff RBC; MCV-low, sphere RBC; T. bilirubin-up, breakdown RBC; LDH-up, hemolysis; HPV B19-pos, infect bone marrow

What is the underlying pathogenesis of Von Gierk's (Type I) disease?

glucose-6-phosphatase deficiency (can't go from G6P to Glucose)

why do we treat sickle cell disease with Hydroxyurea?

increases fetal hemoglobin to retard gelation and sickling of RBCs

Describe the clinical features of TTP

Purpura, Confusion, Arrhythmia, Proeinuria, increase serum indirect bilirubin + LDH, decrease haptoglobin

Explain the rationale for use of HMG-CoA reductase inhibitors in the management of FH

inhibit conversion HMG-CoA to Mevalonate-> reduce cholesterol uptake ->increase synthesis LDL hepatic receptors ->re-uptake LDL = decrease plasma LDL

Describe how 5-flurouracil (5-FU) produces its chemotherapeutic effect

Inactive (parent drug)-> metabolized-> metabolites FdUMP block TS=interfere with DNA/RNA/protein formation

Discuss how Protein S and C work and their relevance in evaluating thrombophilia

Proteins S & C work together to prevent your blood from clotting too much; if low S&C = clot too much; P&C inactivate factors V/VIII = slow down clot formation

Discuss the clinical significance of APC-resistance assay and ratio in screening for factor V gene mutation

degree of abnormality of APC-assay correlates to heterozygosity (higher APC ratio) or homozygosity (low APC ratio) factor V Leiden mutation

Describe the process of plasmapheresis

liquid part of the blood, or plasma, is separated from the blood cells. Typically, the plasma is replaced with another solution--> returned to body

Discuss the process of melanoma cancer from a Benign nevus to Metastatic melanoma (mentioning skin layers or biologic events)

Benign nevus (epidermis)->Dysplastic nevus (basement membrane)->radial growth (dermis)->vertical growth (dermis)->metastatic (lung/liver/brain)

Why is there an increase in serum lactate acid in infants with Von Gierk's disease

glucose-6-phosphate is also the substrate for glycolysis and produces lactate

why do patients with Ewing sarcoma present with generalized pain?

immune cells trigger inflammation->cytokines->inflammatory markers->activate nociceptors throughout body

Describe the genetic pathogenesis of Chronic Myeloid Leukemia

Translocation of chromosome 9 segment onto Chromosome 22-> Philadelphia Chromosome w/ BCR-ABL fusion gene= hematopoeitic stem cell division unregulated

Describe the process that leads to microangiopathic hemolytic anemia (schistocyte formation) in TTP

TTP->ADAMTS13 deficient->cleavage down, increase vWG multimers->hypercoagubale->prothombotic->aggregate->obstruct vessel->sheering RBCS=shistocytes

Pertinent physical exam findings in progeria

alopecia, prominent scalp pain, skin discoloration, reduced subcutaneous adipose tissue, abnormal dentition, beaked nose,

Describe typical characteristics of a peripheral blood smear in a CML patient

leukocytosis, thrombocytosis, myleocytes, neutrophils

Explain the pathophysiology behind Sickle Cell Disease

RBC is sickled->vaso-oclusion->splenic sequestration + Acute chest pain + Infections; Extravascular hemolysis-> Jaundice + Aplastic crisis

Identify 3 specific gene mutations which can lead to the development of breast cancer

BRCA2: tumor suppressor, chromosome stability; BRCA1: tumor suppressor,DNA damage response/repair; HER2: proto-oncogene, nonregulated tissue growth

Outline the steps of a clinical breast exam

Inspection (skin, nipples, retraction views); palpation (vertical strip pattern, nipple, areola); Lymph nodes (supra/infra clavicular, axillary)