UNIT 3 Sigs Part 2 | Baamboozle - Baamboozle | The Most Fun Classroom Games!

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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)

Describe the pathophysiology of FH

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

why do we treat sickle cell disease with Hydroxyurea?

increases fetal hemoglobin to retard gelation and sickling of RBCs

Pertinent physical exam findings in progeria

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

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 is the pathophysiology of hereditary spherocytosis?

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

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

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

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

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

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)

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

leukocytosis, thrombocytosis, myleocytes, neutrophils

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 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 are common radiological findings in Ewing Sarcoma?

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

Explain the pathophysiology behind Sickle Cell Disease

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

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

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

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

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 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)

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

Xanthomas

What are foamy macrophages and their role in FH?

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

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