Block 4 Quiz Flashcards

1
Q

Hemoglobin electrophoresis categories:

Fetus
6 month old
Adult

A

Fetus: wide HbF (80%) + HbA (20%)
6 months: transition to HbA
Adult: HbA (96%) + HbA2 (2.5) + HbF (<1)

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2
Q

Hemoglobin electrophoresis categories:

B-thalassemia minor
B-thalassemia major

A

Minor: narrow HbA + wide HbA2
Major: wide HbA2 + Wide HbF

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3
Q

Hemoglobin electrophoresis categories:

Sickle Cell Disease
Sickle Cell Trait
HbC Disease
HbC Trait
HbSC Disease

A

SS: HbS

AS: HbA + HbS

CC: wide HbC

AC: HbA + HbC

SC: HbS + HbC

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4
Q

Left shift in the Hemoglobin O2 dissociation curve:
“HigH Mile Flyer Prices & Low Bus Prices”

A

High:
Hb affinity (poor tissue oxygenation)
Methemoglobin
HbF
Ph

Low:
2,3 BPG
POC

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5
Q

Right shift in the hemoglobin-O2 dissociation curve:
“low Health Prices & high Bus/TrAin ExPenses”

A

Low:
- Hb affinity (lots of tissue oxygenation)
- pH

High:
- 2,3-BPG
- Temperature
- Altitude
- Exercise
- PCO2

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6
Q

Anemia:

Iron deficiency
“Having Persistent Fatigue May HurT Playful Kids with a Low Feeling”

A

Hypochromic
Parllor
Fatigue
Microcytic
High TIBC
PICA
Koilomychia (spooning nails)
Low Ferritin

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7
Q

Anemia:

ACD (Chronic inflammation)
“CaN Cause InflaMmatioN, low TItre, & High Ferritin”

A
  • Cancer
  • Normocytic
  • Inflammation
  • Microcytic
  • Non-hemolytic
  • Low TIBC & Iron
  • High Ferritin
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8
Q

Anemia:

Sideroblastic anemia
“captaIn MarVeL’s high FlIghT & low Tough BlowS”

A

Isoniazid (TB Rx.)
Microcytic
Vit B6 deficiency (biotin)
Lead poisoning
High Ferritin, Iron, & Transferrin
Low TIBC
Basophilic Stippling

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9
Q

Alpha-Thalassemia:
“ARMy NEws”

& subtypes:

Silent
A-thalassemia trait
HbH disease
Hydrops fetalis

A

Alpha-Thalassemia:
- Reticulocytosis
- Microcytic anemia
- Normal Hemoglobin Electrophoresis

Subtypes:
Silent (-a/aa) Asymptomatic

Trait: (–/aa Asian or -a/-a African) Asymptomatic/mild anemia

HbH: (–/-a) intermittent-severe chronic anemia

Hydrops: (–/–) fatal

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10
Q

A-Thalassemia:

HbH Disease
“HbH Causes Jaundice, HigHeR Problems & lower HeMe adHesion”

A

HbH on the heme electrophoresis
Chronic hemolysis
Jaundice
High HbH (hypoxia), Reticulocytosis, & Hepatosplenomegaly
Poikilocytosis
Low Hb, MCV, Hct

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11
Q

Differentials for Alpha vs Beta thalassemias

Alpha minor/trait
Alpha HbH disease
Beta minor/major

A

Alpha minor/trait:
MCV (Normal/low)
HbA2 (Normal/low)
HbF (Normal)
HbH (Maybe present)

Alpha HbH disease:
MCV (Low)
HbA2 (Normal/low)
HbF (Normal/low)
HbH (Present)

Beta minor/major:
MCV (Low)
HbA2 (High)
HbF (High)
HbH (Absent)

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12
Q

Alpha-Thalassemia:

Hydrops Fetalis
“HuSHPuppiEs”

A

Hepatosplenomegaly
Heart failure
Edema
Prenatal death
Severe hypoxia

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13
Q

B-Thalassemia: ~6MONTHS

Minor
“Minor Melon RINds Have lower Healthy Minerals”

vs

Major
“My Terrible STD Penis gets BITCHeD & NoT CHuCked”

A

Minor: 1 allele deletion
Microcytic
Mild Anemia
Normal Reticulocytosis + Iron
Low Hb, Hct, MCV

Major: 2 allele deletion
Microcytic
Target cells
Severe Transfusion-Dependent anemia
Poikilocytosis
Transfused patients (Bronze pigmentation, Iron overload, Cardiomegaly, Hypogonadism, Diabetes)
Not Transfused (Crew-cut skull, Hepatosplenomegaly, Cardiac failure)

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14
Q

Sickle cell disease
“I CHANCeD An Proper Actual Home with BJs

A

Triggers: Infection dehydration, Hypoxia

Hemolytic anemia
Cholecystitis
Microvascular ischemia
Acute chest syndromes (bone pain)
Autosplenectomy
Poikilocytosis
Crew-Cut skull
Normocytic
Howell-Jowell bodies

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15
Q

Hemophilia A, B, C

A

A: VIII
B: IX
C: XI

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16
Q

Inactive II, VII, IX, X, C, S are turned into active carboxylated clotting factors & anticoagulants (C,S) via which enzyme:

A

Y-glutamyl carboxylase (Vit K dependent)

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17
Q

Extrinsic pathway (Tissue injury)

Factors:
Test:

A

Factors: VII goes to –> VIIa —>X
Prothrombin time test

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18
Q

Intrinsic pathway (Collagen, basement membrane, & activated platelets)

Factors:
Test:

A

Factors:
XII (XIIa) –> XI (XIa) –> IX (IXa) –> VIIIa
Activated Partial Thromboplastin Time (aPTT/PTT)

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19
Q

Common hemostasis pathway:
Factors:

A

X (Xa) –> II (Prothrombin) –> IIa (Thrombin)
–> I (Fibrinogen) —> Ia (Fibrin monomers) –> aggregation + Ca2+ & IIa (thrombin) activates XIIIa (XIIIa fibrinogen stabilizing factor)
–> Fibrin mesh for platelet plug

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20
Q

XIIa activates the kininogen system (aka Kinin cascade) & Plasminogen.

A

Kinin cascade:
HMWK –> (via Kallikrein) Bradykinin (more vasodilation, perm, pain)

Plasminogen:
Plasminogen –> (via tPA) Plasmin
Plasmin helps degrade fibrin mesh into D-dimers

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21
Q

Von Willebrand Disease (VIII)
“Poor PaTienTs BuTts get NePTunes PeaChy kiss,r wiPes with lower the PApeR towel”

A
  • Def factor VIII (No platelet adhesion)

Prolonged:
PTT, BT

Normal:
PT, Platelet count

Low:
Platelet aggregation + Ristocetin

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22
Q

Vitamin K deficiency can be due to
“Dunk My WIenER In HaBanaro & PuT NoRi & PeanuTTs”

A

Diet (dark greens)
Malabsorption (pancreatic insufficiency)
Warfarin (inhibits Epoxide Reductase)
Bleeds (Hemarthosis, bleeding joints)
Prolonged PT/NR (Extrinsic coagulation pathway)
Prolonged PTT (Intrinsic coagulation pathway

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23
Q

Adrenal cortex

“GAMeR gAl FuCks GAy Cock & RiDes All Cock”
salty–> sweet –> sex

A

Glomerulosa
- Aldosterone
Mineralocorticoids
- reg via Angiotensin II

Fasciculata
- Cortisol
Glucocorticoids
- Reg via ACTH & CRH

Reticularis
- DHEA
Adrogen
- Reg via ACTH & CRH

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24
Q

common steps in Steroid hormone synthesis

Cholesterol (3)
Cholesterol hydroxylation
Pregnenolone

A

Cholesterol:
- Stored as CE’s
- De novo synthesis
- Uptake LDL via LDL receptors

Cholesterol hydroxylation:
Pregnenolone via desmolase (CYP11A + NADPH) RLS induced by ATCH & Angiotensin II

Pregnenolone:
Progesterone via 3-Beta-Hydroxysteroid Dehydrogenase (3BHSD)

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25
Q

Zona Glomerulosa Steroid hormone synthesis:
“Cold, PooPs Dunk, Crash, Chunk Alot”

A

Cholesterol ester (CEH)
Cholesterol (CYP11A1 & stAR)
Pregnenolone (3BHSD)
Progesterone (CYP21)
11-OH-Deoxycorticosterone (CYP11B2)
Corticosterone
18-OH-Corticosterone (Aldosterone synthase, Angiotensin II+)
Aldosterone (21ketosteroid)

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26
Q

Zona Fasiculata Steroid hormone synthesis:
“Cold PooPs 2 Hype Dudes Cool Cocks”

A

Cholesterol (Desmolase, ACTH +)
Pregnenolone (3BHSD)—>17 Hydroxypregnenolone

Progesterone (CYT17A) –> 17-Hydroxyprogesterone (CYP21)
11 deoxycortisol CYP11B2)
Cortisol (Steroid 11B hydroxylase) (CYT17A)
Cortisone

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27
Q

Zona Reticularis Steroid hormone synthesis:
“Cold PooPs Produce Pungent Aromas & Damage”

A

Cholesterol (Desmolase +ACTH)
Pregnenolone
(CYT17A) –> 17-OH Pregnenolone (17,21 lyase) –> DHEA (3B) –> Androstenedione

(3B) –> progesterone (CYT17A) –> 17-OH Progesterone (17,20 lyase) –> Androstenedione (17 ketosteroid)

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28
Q

Complete steroid hormone synthesis pathway

A
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29
Q

RAAS Pathway & Effects

A

Effects:
Hypertension (more aldosterone)
Hypernatremia
Hypokalemia
Metabolic alkalosis

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30
Q

Conn’s Syndrome (Primary Hyperaldosteronism)

VS

Secondary Hyperaldosteronism

A

Conns:
High Aldosterone
Low Renin & Angiotensin II

Secondary:
Renin-secreting tumor
High aldosterone, Renin, & Angiotensin II

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31
Q

Cortisol regulation pathway (pituitary)
& effects

A

Metabolism:
Bone reabsorption
Anti-inflammatory
Immunosuppresion
Less glucose uptake & insulin release

Cardiovascular system:
More synthesis of PNMT

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32
Q

Cortisol regulation conditions:

ACTH-Independent (primary adrenal disease)

A

Adrenocortical tumours (adenoma/carcinoma)
- high cortisol
- Low ACTH, adrenal androgens, DOC, & SMALLER ADRENAL GLANDS

Dexamethasone test diff pituitary adenoma vs ectopic ACTH-secreting tumor

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33
Q

Cortisol regulation conditions:

ACTH-Dependent (Cushing’s disease)

A

Pituitary adenomas
- High ACTH, Cortisol, Adrenal androgens
- Bigger adrenals
Moon face
Buffalo hump
Hyperglycemia
Purple striae

Rx. Suppress ACTH/Cortisol via a high dose of dexamethasone

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34
Q

Cortisol regulation conditions:

Ectopic (paraneoplastic) secretion

A

Small-cell lung carcinoma
- High ACTH, Cortisol, adrenal androgens
- Bigger adrenals

Dexamethasone doesn’t work.

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35
Q

Primary adrenal insufficiency
ADDISIONS DISEASE

A

high ACTH
low Aldosterone, Na, Cl, K. hypotension, cortisol, adrenal androgens

**BRONZE SKIN
Weight loss
Hypoglycemia
Postural hypotension

Adrenal crisis: low Na & high K!!!

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36
Q

21a-OH Def

A

21:
Low cortisol/aldosterone
High ACTH, Renin/ATII androgens, & urine 17-OH-progesterone

Females 46XX (virilized)
Males Precocious puberty
Salt wasting crisis (hypotension, hyponatremia, hyperkalemia, dehydration, & met acidosis)

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37
Q

11B-OH Def

A

11:
Low cortisol/aldosterone
High ACTH, Renin/ATII, Androgens, urine 11-DOC

Females 46XX
Males Precocious puberty

11DOC Mineralocorticoid effects:
Hypertension, hypernatremia, hypokalemia/ hydration, met alkalosis

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38
Q

17a-OH Def

A

High Aldosterone & 11DOC, ACTH
Low Renin, ATII, Cortisol, & Androgens

Female delayed puberty, no 2nd sex characteristics, primary amenorrhea

Male 46XY (Psuedohermaphroditism)

High mineralocorticoid effects:
Hypertension, Hypernatremia, Hydration, hypokalemia, met alkalosis

39
Q

Treating

21a-OH Def
11B-OH Def
17a-OH Def

A

21:
Glucocorticoid therapy (reduce ACTH) + Mineralocorticoid replacement

11:
Glucocorticoid therapy

17:
Glucocorticoid & Sex hormone replacement

40
Q

Ca2+ Homeostasis
regulates 3
regulated by 3
regulated at 3 sites

A

reg: Calcium, phosphorus, Bone

reg by: PTH, Calcitonin, VitD

Reg at: Kidney, Bone, Intestines

41
Q

Calcium homeostasis & vitamin D pathway

A

Low Ca2+ –> ups PTH activate 1a-hydroxylase
Low Phosphorus activates 1a-hydroxylase

42
Q

Vit D def Causes & 2 diseases

A

Causes:
Night-shifts
Kidney disease
Lipid malabsorption
High PTH
Low Ca, phosphorus, or calcitriol

Diseases
Rickets
Osteomalacia

43
Q

Calcium homeostasis via PTH

& Clinical corr
Primary hyperparathyroidism

A

Clinical:
Primary hyperparathyroidism
- Hypercalcemia
- Parathyroid adenoma
- high PTH & Vit D
- Low phosphorus

Signs
Kidney stones
Osteoporosis
Gi issues
Muscle weakness
Mental changes
Polyuria

44
Q

Calcium homeostasis via PTH

& Clinical Corr
Primary Hypoparathryoidsim
Pseudohypoparathyroidism
vit D deficiency/chronic renal failure

A

Primary Hypoparathryoidsim
-Hypocalcemia
-Low PTH, Vit D
-High Phosphorus
Genetic (DiGeorge) or Surgery PARA/THYROID

Pseudohypoparathyroidism
- Def PTH in bone/kidney
-Low Ca2+
- High PTH, phosphorus

vit D deficiency/chronic renal failure
- Low Ca2+ & Vit D
- High PTH
- high/low phosphorus
- renal failure signs

45
Q

Link the disease to the letter

Primary hyperparathyroidism
Primary Hypoparathryoidsim
Pseudohypoparathyroidism
vit D deficiency/chronic renal failure

46
Q

Kwashiokor DILUTED MILK FORMULA (NO BOOBIES)
“MEAL”

A

Neg nitrogen balance via protein def
Malnutrition
Edema (no albumin moon face)
Anemia (less globins)
Liver (fatty no apolipoproteins)
Dermatitis, gray hair (vit/mineral def)
Weightloss/fatigue

47
Q

Marasmus (DILUTED MILK FORMULA) NO BOOBIES!

A

Neg nitrogen balance via protein/cal def
Tissue wasting
Oldman face, sparse hair

48
Q

BMR calculation

A

BMR = 24 X Weight

49
Q

Vit B1(Thiamine

TTP Cofactor (4)

Def causes

Beri-Beri

A

TTP:

PDH

aKG DH (TCA def means more Pyruvate, lactate, alanine (met acidosis)

BC a-Keto acid DH (Val, leu Ile)

Transketolate (HMP-path)

Causes:
Diet (polished rice/malnutrition)
BOOZE
Thiaminase (Raw seafood)

Beri-Beri

Wet BB= Edema, tachycardia, cardiomegaly, congestive heart failure

Dry BB= Neuromuscular, peripheral neuropathy

Wernicke-Korsakoff synd= Confusion, Ophthalmoplegia, ataxia
Reversible “CAN”: Confusion, Ataxia, Nystagmus
- Foci of hemorrhage & necrosis in mamillary bodies

Korsakoff psychosis “CAP”
Confabulation
Anterograde amnesia
Psychosis

50
Q

Vit B2 Riboflavin

FAD/FMN cofactor

Def causes

Ariboflavinosis

A

FAD/FMN:

FMN-Dependent complexes (COMPLEX 1 OF ETC moves electrons to CoQ)

FAD0dependent enzymes
Succinate Dehydrogenase (Comple 2 ETC)
Fatty acyl CoA dehydrogenases
G3PDH
Glutathione reductase

Def causes:
Booze
Malnutrition
Beriberi, pellagra, Kwashiorkor
No UV light

Ariboflavinosis:
Angular stomatitis
CHEILOSIS
CORNEAL VASCULARIZATION (bloodshot eyes)
OXIDATIVE STRESS/NORMOCYTIC ANEMIA
Glossitis
Suborrhei dermatitis
Peripheral Neuropathy

51
Q

Vit B3 Niacin

NAD/NADP Cofactor
DEF CAUSES
PELLAGRA

A

COfactor:
Glycolysis; Ox. decarboxylation; TCA cycle; Ox. Deamination; β-oxidation of fatty acids

Def causes
Corn diet (low tryptophan)
Hartnup disease
Carcinoid syndrome (high serotonin/ HIAA
Malnutrition
BOOZE

DEF PELLAGRA
DIARRHEA
DERMATITIS
DEMENTIA

52
Q

Vit B6 Biotin

Cofactor

Causes

Def

A

Cofactor:
Acetyl CoA cARBOXYLASE (FA SYNTHESIS)
Pyruvate Carboxylase (GLUCONEOGENESIS)
Propionyl CoA Carboxylase (VOMIT PATHWAY)

CAUSES:
Eating 5-20 egg whites (WTF) AVIDIN BINDS BIOTIN & BLOCKS ABSORPTION
Parental nutrition

Def:
Seborrheic dermatitis
Anorexia
Alopecia
Mild lactic acidosis

53
Q

Vit A retinol

Function (NOT COFACTOR)

DEF CAUSES

DEF

A

Function:
11-cis retinal (rhodopsin vision)
Retinoic acid (growth/cell diff)
Retinol (Repro)

Def causes:
Malnutrition
Fat malabsorption/fat free diet
Abetalipoproteinemia (impaired delivery to liver

Def
Night blindness
Xerophthalmia (dry eyes)
Corneal scarring
Imp diff of immune cells
Follicular hyperkeratosis (goose skin)
Dont use on preggos!!!!

54
Q

Vit E Tocopherol

Function (not cofactor)
Def CAUSES
DEF

A

Function:
Antioxidant
Immune resp
Protects RBC’s from hemolysis
Structural comp of cells
Myelination in neurons

DEF CAUSES
Malnutrition
Fat malabsorption/;fatfree diet
Abetalipoproteinemia (imp delivery to liver)

Def:
Oxidative stress
Hemolytic anemia
Acanthocystosis RBCS (FRAGILE MEMBRANES)
Neuro deficits & muscle weakness
Peripheral neuropathy without megaloblastic anemia

55
Q

Heme synthesis pathway
“GLASs PHotos of Ugly Corgis, Poodles, & Hounds”

A

Mito:
—> Glycine + Succinyl-CoA combine to make Aminolevulinic acid (via ALA synthase+ B6 (biotin))

Cyto:
—> Aminolevulinic acid leaves the mito & forms Porphobilinogen (via ALA Dehydrase)
—> Porphobilinogen forms Hydroxymethylbilane (via Porphobilinogen Deaminase/Hydroxymethylbilane synthase)
—> Hydroxymethylbilane forms Uroporphyrinogen III (via Uropophrynogen synthase)
—> Uroporphyrinogen forms Coporhyrinogen III (via Uroporphyrinogen Decarboxylase)

Mito:
—> Corporphyrinogen forms Protoporphyrin IX
—> Protoporphyrin forms Heme (via Ferrochetalase + Fe2+)

56
Q

Inhibition of Heme synthesis

Lead (affects which 2 enzymes)
&
Heme & high glucose
Low iron

A

Lead: inhibits ALA Dehydrase & Ferrochetalase

Heme/hematin/hemenin & high glucose: ALA synthase I (Liver)

Low iron: ALA synthase II (Bone marrow)

57
Q

Heme synthesis disorders:

Acute intermittent porphyria
“Ads No ACcePtABLe Pain”

A

Deficient Porphobilinogen Deaminase/Hydroxymethylbilane synthase:

Auto Dom + Late onset

Causes build-up of PBG (Porphobilinogen) & ALA (Cause neurological dysfunction)
Symptoms:
- Anxiety, confusion, Paranoia
- Acute Abdominal pain
- Port-wine urine (sometimes)

DON’T GIVE BARBITUATES or fast

5 P’s:
- Painful abdomen
- Port-wine urine
- Polyneuropathy
- Psych issues
- Precipitated by barbituates

Treat:
- Hematin/hemin
- high CHO diet

58
Q

Heme synthesis disorders:

Porphyria cutanea tarda
“Ads Heat, PAin, & BuRns”

A

Deficient Uroporphyrinogen Decarboxylase

Auto DOM + Late onset

Causes build-up of cyclic tetrapyrroles (cause sunlight-induced lesions)

Symptoms:
- Photosensitivity
- Blistering/inflammation of the skin
- Red/Brown urine (build-up of uroporphyrinogen & abnormal liver enzymes)
- Hyperpigmentation

WORSE WITH ALCOHOL

59
Q

Port-wine urine is due to build-up of which substrate & is associated with what conditions?

A

Build-up: Uroporphyrinogen

Ass.:
- Hepatitis
- HIV
- Alcoholism
- Oral contraceptives
- Acute int porphyria
- Porphyria cutanea tarda

60
Q

Anemia types:

Microcytic (less than 80)
“MIcro AnTS”

A

Iron deficiency
ACD
Thalassemias
Sideroblastic anemia

61
Q

Anemia types:

MCV (80-100)
Normocytic-Hemolytic & Intrinsic anemia

“Normal HIGHSchool Pressure”

A

G6PD, PK
Spherocytosis (hereditary
Paroxysmal nocturnal hemoglobinuria
Sickle cell
Hbc

62
Q

Anemia types:

MCV (80-100)
Normocytic-Hemolytic & Extrinsic anemia

“A NormAl HEMIsphere”

A

MAHA
MIHA
Auto immune
Infection

63
Q

Anemia types:

MVC (80-100)
Normocytic-Nonhemolytic anemia

“NAKed Ass”

A

ACD
Kidney disease
Aplastic anemia

64
Q

Anemia types:

Macrocytic-Megaloblastic anemia

“Massive Mega-Bull Frogs”

A

Megaloblastic
B12 Def
Folate def

65
Q

Anemia types:

Macrocytic-Megaloblastic: B12 def absorbed in the ileum
“VitAMin B12 in Breakfast Cereal, HeMP, Trout, HeARTy AniMal Meats, & PeAs”

A

Risks (Vegans, Atrophic gastritis, Bypass surgery, Tapeworms, ***Percarnious anemia, Crohn’s, AIDS)
2-3 yrs Onset
High methylmalonic acid
Megaloblastosis
Peripheral Neuropathy
Affected MM-CoA & Homocysteine methyltransferase

66
Q

Anemia types:

Macrocytic-Megaloblastic: Folate def
“FolATe Affects How PregnanT woMen Deliver”

A

risks (Preggos, ***Alcoholics, & Drug users (phenytoin & spruce)
THF (active form via DHFR)
Affects Thymidylate synthase, Homocysteine methyltransferase, & purine synthesis
Megaloblastosis (ONLY)

67
Q

Microlytic anemia: MCV < 80

Iron Deficiency
“IroN BinDs 2-3x Less THen TItanium Without PacKinG”

A

Iron def:
- Normal ALA

-Bleeding (colon cancer, GI ulcer, Menorrhagia
etc.)

Diet def (Protein def, ascorbic acid, vit C, or
copper)
Low Ferritin (Fe3+) & Iron (Fe2+) in serum
Tachycardia, Weakness/parllor, Glossitis, Pica, Koilonychia (spooning nails)
High TIBC (body wants more iron)

68
Q

Microcytic anemia:

Sideroblastic anemia
- B6 deficiency
“IOns LAST & RADiatE Colour in Space”

&

Lead toxicity
“LABS PrOvIde bLADes For iNcisions”

A

B6 Def:
- Isoniazid (TB patients)
- Low ALA synthase (Low ALA levels mean no
Heme to bind iron)

Iron overload (high ferritin & iron)
Low TIBC (the body doesn’t need more iron)
Reduced AA decarboxylase activity (def GABA,
DA, NE/E = Epileptic convulsions)
Reduced CBS activity (Homocystinemia & risk
DVT/Stroke)
Lead poisoning:
- Lead exposure (paint chips)
- Abdominal pain (unexplained)
- Basophilic Stippling
- Peripheral neuropathy
- Iron Overload (high ferritin & iron)
- Low ALA Dehydrase (High ALA levels)
- Low ferrochelatase (sideroblastosis)
- Low TIBC (the body doesn’t want more iron)
- Neuro-toxic/psychic issues

69
Q

Microcytic anemia:

Thalassemia
“thAlAssemiA Has Bad CHanges”

A

Alpha thalassemia:
- 1 deletion = asymptomatic
- 2 deletions = Mild anemia
- 3 deletions = Severe anemia
- 4 deletions = Hydropis fetalis (dead)

Beta thalassemia:
- 1 deletion = Minor B-T
- 2 deletions = Major B-T
(Hgb A2) reduces hematopoiesis in normal bone marrow in long bones, so it happens more in the skull (Chimpmunk Facies)

70
Q

Microcytic/Normocytic anemia:

ACD (Anemia of Chronic Diseases)
“CD’s in the KAR”

A

The body can’t tell the difference between chronic inflammation and infection, so it hides its iron from siderophoric bacteria.

It releases Hepcidin (lowers iron reabsorption & increases storage)

Low iron & ferritin
High TIBC

Kidney disease
Autoimmune disease
Rheumatological disease

71
Q

Normocytic anemia (80-100):

Paroxysmal Nocturnal Hemoglobinuria
“PNH Can DRoP PIGA”

A

Pancytopenia, Negative Coombes test, & Hibernation (during sleep)

Complement system isn’t inhibited by CD55/59
Defective PIGA gene
Decreased CD55/59
Premature RBC lyses

72
Q

Normocytic Intrinsic anemia:
“NO FRee SHots of Gin or FireBall Pay your Dollars”

A

No NADPH
Glutathione isn’t reduced
Oxidative stress on RBCs
Free radicals aren’t destroyed
Sulfa, Dapsone, primaquine, & favabeans
Heinz bodies + Bite cells

73
Q

Normocytic Intrinsic anemia:

Hereditary Spherocytosis
“DABS are Cool as SHIt”

A

Dsyfunctional RBC membrane protein (Ankyrin, Bands & Spectrin)
Coombs negative test
Splenomegaly
Howell-Jolly bodies
Indirect Jaundice

74
Q

Anti Cancer Drugs:

“MethotRexAte CLoSes & ALMost DRIPS”

A

Rheumatoid arthritis
Abortion/ectopic preggos
Choriocarcinoma
Lymphoma
Sarcoma
Acute Lymphocytic Myelogenous Leukemia
Inhibited Dihydrofolate Reductase
S Phase

75
Q

Anti Cancer Drugs:

5’ Fluorouracil
“SiP IPA BITCheS”

A

S Phase
Inhibits Pyrimidine Analog
Basal cell carcinoma
Inhibits Thymidylate synthase (reduce dTMP & DNA synthesis)
Colon cancer
Solid tumors

76
Q

Anti-Cancer drugs:

Hydroxyurea
“SPIRR MCS”

A

S Phase
Inhibits Ribonucleotide Reductase
Melanoma
CML
Sickle Cell

77
Q

Carcinoid Tumors:

“cArcinoiDS Produce Gross HIAtAl”

A

Amine Precursors Uptake Decarboxylase Cells
Diarrhea
High Serotonin & Sweating
Pellagra Niacin def (B3) (Diarrhea, Dementia, Dermatitis)
Gi Tumors
5-HIAA (5-Hydroyindoleacetic acid)

78
Q

Li-Fraumeni syndrome:

A

Rare AUTO DOM

Breast, colon, brain, adrenocortical tumours

Somatic mutations inactivate the TP53 gene = cancers.

79
Q

Proto-oncogenes:

BRAF

BCR-ABL

JAK2

A

BRAF: 7q34, makes Ser, Thr kinase, Melanoma, Non-Hodgkin lymphoma, Papillary thyroid carcinoma, Hairy cell leukemia

BCR-ABL: zt(9;22) Philadelphia chromosome, makes non-receptor tyrosine kinase, CML

JAK2: 9p24.1, non tyrosine kinase receptor, Chronic myeloproliferative disorders

80
Q

Proto-oncogenes:

HER2/neu

ALK

RET

A

HER2/neu(c-erbB2): 17q12, Receptor Tyrosine Kinase, Breast/gastric cancer

ALK: 2p23.2-p23.1, Receptor tyrosine kinase, Lung adenocarcinoma

RET: 10q11.21, receptor tyrosine kinase, Papillary thyroid cancer, pheochromocytoma, MEN2A & MEN2B

81
Q

Proto-oncogenes:

c-KIT

L-myc-1 (MYCL1)

N-myc (MYCN)

c-myc

A

c-KIT: 4q12, Cytokine receptor, GI stromal tumors, Mastocytosis

L-myc-1 (MYCL1): 1p34.2, Transcription factors, Lung cancer

N-myc (MYCN): 2p24.3, Transcription factors, Neuroblastoma

c-myc: 8q24.21, Transcription factors, Burkitt Lymphoma

82
Q

Proto-Oncogenes:

KRAS

BCL-2

CDK4

CCND1

ERBB1

A

KRAS: 12p12.1, GTPase, Colorectal, lung, pancreatic cancer

BCL-2: 18q21.33, Antiapoptotic molecule, Follicular lymphoma, Diff large B cell lymphoma

CDK4: 12q14.1, Cyclin-dependent kinase, Liposarcoma, Melanoma, Glioblastoma multiforme

CCND1: 11q13.32, cyclin D, Mantle cell lymphoma

ERBB1: 7p11.2, Epidermal growth factor receptor, NSCLC (lung cancer)

83
Q

Tumor Suppressor gene:

TP53

Rb

CDKN2A

APC gene

A

TP53: 17p13.1, p53 cell apoptosis, arrests cell cycle G1 phase (most cancers & Li-Fraumeni synd)

Rb: 13q14.2, Retinoblatoma protein (cell cycle arrest G1, inhibits E2F), Retinoblastoma, Osteosarcoma

CDKN2A: 9p21.3, p16 (arrests cell cycle in G1 phase), Melanoma, pancreatic, lung cancer

APC gene: 5q22.2, inhibits B-catenin synthesis (B-catenin/Wnt pathway), Familial adenomatous polyposis, colon cancer

84
Q

Tumor Suppressor gene:Tumor Suppressor gene:

PTEN

BRCA1

BRCA2

MMR gene family

DCC

A

PTEN: 10q23, Neg regs the Pl3k/AKT pathway, Breast cancer, prostate, endometrial, Cowden syndrome

BRCA1: 17q21.31, DNA repair protein, Breast, Ovarian, Pancreatic

BRCA2: 13Q13.1, DNA repair protein, Breast, Ovarian, Pancreatic

MMR gene family: DNA repair protein, Lynch Syndrome

DCC: 18q21.2, Transmembrane receptor in apoptosis, Colorectal cancer

85
Q

Tumor Suppressor gene:

SMAD4

MEN 1

NF1

NF2

A

SMAD4: 18q21.2, DNA binding protein (signal transduction TGF-B), Pancreatic cancer

MEN 1: 11q13.1, Menin, MEN1

NF1: 17q11.2, Neurofibromin (Ras GTPase activating protein), Neurofibromatosis type 1

NF2: 22q12.2, Merlin (Schwannomin), Neurofibromatosis type 2

86
Q

Tumor Suppressor gene:

TSC1

TSC2

VHL

WT1

WT2

A

TSC1: 9q34.13, Hamartin protein, Tuberous sclerosis

TSC2: 16p13.3, Tuberin protein, Tuberous sclerosis

VHL: 93p25.3, (Degredation of hypoxia-inducile-factor 1a), Von Hippel Lindau disease)

WT1: 11P13, tRANSCRIPTION FACTOR (Urogen development), Nephroblastoma (Wilms tumor)

WT2: 11p15.5, transcription factor (urogen development), Nephroblastoma

87
Q

Radiation:

Nonionizing radiation

VS

Ionizing radiation

A

Nonionizing radiation:
UV-B = Skin cancers

Ionizing radiation:
X-rays, Gamma rays = Leukemias, Papillary thyroid cancer, Osteosarcoma, Liver angiosarcoma

88
Q

Oncogenic infections:

EBV (Epstein Barr Virus)

HBV

HHV

HHV8

HPV16

A

EBV:
Burkitt lymphoma
Hodgkin lymphoma
Nasopharyngeal carcinoma
Oral hairy leukoplakia
Primary CNS lymphoma in immunocompromised patients
Gastric carcinoma

HBV:
Hepatocellular carcinoma

HHV-8:
Kaposi sarcoma

HPV-16 & 18
E6 inhibits TP53
E7 inhibits RB1
Squamous cell carcinoma (urogenital)

89
Q

Oncogenic infections:

HTLV-1

HCV

A

HTLV-1:
Adult T-cell Leukemia

HCV:
Hepatocellular carcinoma

90
Q

Oncogenic infections:

Schistosoma haematobium

Clonorchis Sinensis (Chinese liver fluke)

H.Pylori

Streptococcus bovis

A

Schistosoma haematobium:
Squamous cell carcinoma bladder

Clonorchis Sinensis (Chinese liver fluke):
Cholangiocarcinoma, MALT Lymphoma

H.Pylori:
Colorectal cancer

Streptococcus bovis

91
Q

Tumor growth grading
G1
G2
G3
G4
Gx

A

G1: Well-differentiated (low grade)

G2: Moderately differentiated (intermediate)

G3: Poorly differentiated (high grade)

G4: Undifferentiated/anaplastic (high grade)

Gx: Differentiation can’t be assessed

92
Q

Tumor stages

T
N
M

A

T: size/direct extent of primary tumor

N: Involves lymph nodes

M: metastasis

93
Q

Dronabinol

Mirtazapine

Megestrol acetate

A

D: For Chemotherapy induced nausea & vomiting

M: For insomnia & depression-related anorexia in cancer treatment

M: Progesterone analogs & corticosteroids are appetite stimulants