Chemical Pathology Flashcards

Question

When does CRP peak?

Answer 1

Mops up superoxide radicals

Answer 2

Fe overload | Acute inflammation

Answer 3

RBC transketolase

Answer 4

RBC glutathione reductase

Answer 5

RBC AST activation

Answer 6

``` Hypo following food intake Post-gastric bypass Hereditary fructose intolerance Early diabetes In insulin-sensitive individuals after exercise or large meal ```

Answer 7

Decreased glucose, increased insulin without increased C-peptide Think of those with access to insulin...often nurses on exam questions

Answer 8

Causes increased insulin production therefore lowers glucose

Answer 9

``` "PVT M.T. HILL" Phenylalanine Valine Threonin Methionine Tryptophan Histidine Isoleucine Leucine Lysine ```

Answer 10

Banding Sleeve gastrectomy Roux-en-Y (gold standard)

Answer 11

Caloric malnutrition | Severe muscle wasting, no s/c fat, growth retardation

Answer 12

``` PROTEIN malnutrition Edematous Scaling/ulceration Lethargy Large liver, s/c fat ```

Answer 13

``` LH FSH GH ACTH TSH PRL ```

Answer 14

Stored only Oxytocin ADH

Answer 15

Hypoglycemia should increase CRF and thus ACTH, GHRH and GH TRH stimulates TSH and PRL LHRH stimulates LH and FSH If pituitary failure, failure for GH, cortisol, LH, FSH to respond. Urgently needs hydrocortisone Also needs thyroxine, estrogen and GH replacement

Answer 16

Da agonist e.g. bromocriptine or cabergoline

Answer 17

OGTT | Glucose should decrease GH but stays high if acromeg

Answer 18

All skeletal changes associated with chronic renal disease - increased bone resorption (osteitis fibrosa cystica) - Osteomalacia - Osteosclerosis (can cause deafness or pain by pinching nerves) - Growth retardation - Osteoporosis

Answer 19

HCO3-/H2CO3 Hb-/HHb HPO4-/H2PO4

Answer 20

Proximal tubule

Answer 21

``` Increased H+ production (e.g. DKA) Decreased H+ excretion (e.g. renal tubular acidosis) Bicarb loss (e.g. intestinal fistula) ```

Answer 22

``` MUD PILES Methanol Uremia DKA Propylene glycol Iron/INH Lactic acidosis Ethylene glycol Salicylates ```

Answer 23

H+ loss (e.g. pyloric stenosis) Hypokalemia (H+/K+ exchangers) HCO3 ingestion

Answer 24

3.5-5mmol/L

Answer 25

Symmetrical peaked/tented T waves ("Eiffel Tower t waves)

Answer 26

V2 in renal tubular cells (aquaporin channels) | V1 on vascular smooth muscle (vasoconstriction)

Answer 27

If 3-3.5: oral KCl (2 sando-K tablets tds for 48hrs) | If

Answer 28

tachycardia, postural hypotension, dry mucous membranes, reduced skin turgor, confusion/drowsiness, reduced urine output

Answer 29

Increased JVP Bibasal crackles Peripheral edema

Answer 30

Diarrhea Vomiting Diuretics

Answer 31

Hypothyroidism Adrenal insufficiency SIADH

Answer 32

Cardiac failure Cirrhosis Nephrotic syndrome

Answer 33

CNS pathology Lung pathology Drugs: SSRIs, TCAs, opiates, PPIs, carbamaz Tumors

Answer 34

No hypovolemia, hypothyroidism, adrenal insufficiency | Reduced plasma osmolality and increased urine osmolality

Answer 35

Do not correct more than 12mmol/L in first 24 hours--risk central pontine myelinolysis

Answer 36

Quadriplegia, pseudobulbar palsy, seizures, coma, death

Answer 37

Water restriction Demeclocycline (decreases collecting tubule responsiveness to ADH) Tolvaptan (V2 antag)

Answer 38

Kidneys: increases Ca reabsorption, upregulates 1-alpha-hydroxylase Intestine: increases Ca absorption Bone: increases bone resorption

Answer 39

Malignancy Sarcoid Thyrotoxicosis Milk alkali syndrome

Answer 40

Primary hyperparathyroidism | Familial hypocalciuric hypercalcemia (rare)

Answer 41

Parathyroid adenoma/hypoplasia/carcinoma | Associated with MEN I

Answer 42

Humoral calcemia of malignancy (SCC lung secretes PTHrp) Bone mets Hematological malignancy (e.g. myeloma)

Answer 43

``` Vit D deficiency CKD PTH resistance (pseudohypoparathyroidism) ```

Answer 44

Surgical removal parathyroids AI hypoparathyroidism Congenital e.g. DiGeorge Mg deficiency

Answer 45

-1.5 to -2.5

Answer 46

Failure to attain peak bone mass Early menopause Bone loss during adulthood: lifestyle, endocrine (hyper-PRLemia, thyrotox, Cushings) Steroids

Answer 47

Lifestyle: stop smoking and drinking, weight bearing exercise Drugs: Vit D/Ca, bisphosphonates, teriparatide, strontium, SERM (raloxifene)

Answer 48

Bone and muscle pain Increased fracture risk Low Ca and PO4, raised ALP Looser's zones (pseudofractures)

Answer 49

Bowed legs Costochondral swelling Widened epiphysis at wrists Myopathy

Answer 50

Disorder of bone remodeling Focal pain, warmth, deformity, #, SC compression, malig, high output cardiac failure Increased ALP Tx with bisphosphonates

Answer 51

Due to secondary hyperparathyroidism and retention of aluminum from dialysis fluid

Answer 52

Uric acid | Cysteine

Answer 53

Maintains oncotic pressure, source of amino acids, acts as buffer, binds ligands Decreased in acute inflamm response, liver failure, nephrotic syndrome

Answer 54

Degrades elastase | Deficiency causes tissue degradation (liver, lung)

Answer 55

Mops up free Hb. | Thus decreased in intravascular hemolytic anemias

Answer 56

Carries copper | Decreased in Wilsons

Answer 57

Trauma, infection (MENINGITIS), spinal block

Answer 58

Decrease in oncotic pressure: | CCF, liver failure, hypoalbuminemia, peritoneal dialysis

Answer 59

``` Malignancy PE RA/SLE TB Hemothorax ```

Answer 60

HCC | Testicular cancer

Answer 61

Alert and orientated: lucozade, sandwich Drowsy/confused but swallow intact: buccal glucose Unconsc or unsafe swallow: IV 50mL 50% gluc or 100mL 20% gluc

Answer 62

``` Diabetes Fasting/reactive BOOZE Organ failure Insulinoma Post-gastric bypass Drugs Extreme weight loss Factitious ```

Answer 63

Premature Infant diabetic mother IUGR/SGA Inborn errors metabolism

Answer 64

FA oxidation defects MCADD GSD type 1 (von Gierke's) HMG CoA lysase deficiency

Answer 65

Galactosemia Fructose-1,6-phosphatase deficiency GSD 1, 3, or 6

Answer 66

Maternal imprinting; paternal gene deleted/mutated.

Answer 67

Paternal imprinting; maternal gene deleted/mutated. | "Happy puppet syndrome": inappropriate laughter, seizures, ataxia, severe intellectual disability

Answer 68

X-dominant. | Increased PO4 wasting at proximal tubule

Answer 69

Rare Myopathy, lactic acidosis, CNS disease. Ragged red fibers

Answer 70

Mutation in APC gene on chromo 5

Answer 71

Aka Osler-Weber-Rendu | Telangiectasias, recurrent epistaxis, skin discolorations, AVMs

Answer 72

Cafe-au-lait spots, cutaneous neurofibromas

Answer 73

Bilateral acoustic schwannomas, juvenile cataracts, meningioas, ependymomas

Answer 74

Multiorgan system involvement | Benign hamartomas

Answer 75

Increased CPK and aldolase

Answer 76

CTG trinucleotide repeat in DMPK gene. | Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmias

Answer 77

Anchors muscle fibers, especially skeletal and cardiac (note that DCM is most common cause death in muscular dystrophy) Loss of dystrophin causes myonecrosis

Answer 78

Huntingtons Freidrich ataxia Myotonic dystrophy Fragile X

Answer 79

Decreased: AFP, estriol Increased: inhibin A, hCG

Answer 80

Downs Edwards Patau

Answer 81

Dermatitis Glossitis Dementia

Answer 82

Thiamine, a component of TPP

Answer 83

In pyruvate DH (links glycolysis to TCA cycle) alpha-ketoglutarate DH (TCA cycle) Transketolase (HMP shunt) Branched chain ketoacid DH

Answer 84

Impaired glucose breakdown causing ATP depletion worsened by glucose infusion. Highly aerobic tissues (brain, heart) affected first. Beriberi or Wernicke's

Answer 85

High output HF (DCM), edema

Answer 86

Polyneuritis, symmetrical muscle wasting

Answer 87

Riboflavin. Components of FAD, FMN--cofactors in redox reactions, e.g. succinate DH

Answer 88

Cheilosis, corneal vascularization

Answer 89

Niacin. Part of NAD+, NADP+ (in redox rxns) | *Synth requires B2, B6

Answer 90

Glossitis. Pellagra when severe.

Answer 91

Diarrhea Dermatitis Dementia

Answer 92

Hartnup disease (decreased tryptophan) Malignant carcinoid syndrome INH (decreases B6 which is required for B3 synth)

Answer 93

Pantothenate. Part of CoA and fatty acid synthase | Deficinecy: dermatitis, enteritis, alopecia, adrenal insufficiency

Answer 94

=Pyridoxine. Part of pyridoxal phosphate (cofactorin transamination e.g. ALT, AST), carbox reactions, glycogen phosphorylase Synthesis of cystathionine, heme, niacin, histamine, NTs (5HT, E, NE, Da, GABA)

Answer 95

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (since no heme production)

Answer 96

Biotin Cofcator for carbox enzymes Deficiency rare (dermatits, enteritis, alopecia)

Answer 97

Folic acid | Converted to THF. Important for synth nitrogenous bases, e.g. in RNA, DNA

Answer 98

Macrocytic, megalobastic anemia, glossitis Increased homocysteine, normal methylmalonic acid Seen in alcoholism, pregnancy, drugs (phenytoin, sulfonamides, MTX)

Answer 99

Cobalamin | Cofactor for homocyteine methyltransferase, methylmalonyl CoA

Answer 100

Caused by strict veganism, malabsorption (sprue, enteritis, Diphyllobothrium latum--fish tapeworm), lack intrinsic factor (pernicious anemia, gastric bypass), absnece terminal ileum (Crohn's)

Answer 101

Fe3+ --> Fe2+ Hydroxylation proline, lysine In beta hydroxylase (converts Da to NE)

Answer 102

Cholecalciferol | Milk, sun

Answer 103

Ergocalciferol | Plants

Answer 104

Protects RBC from free radical damage

Answer 105

Hemolytic anemias Acanthocytosis Muscle weakness Posterior column and spinocerebellar tract demyelination

Answer 106

AR defect in fructokinase Fructose in urine and blood Asymptomatic and benign

Answer 107

AR. Deficiency aldolase B Fructose-1-P accumulates and decreases PO4 which halts glycogenolysis and gluconeogenesis Symptoms following ingestion fruit, juice, or honey Symptoms: hypoglycemia, jaundice, cirrhosis, vomiting

Answer 108

Deficiency galactokinase AR Galacitol accumulates Sxs: galactose in blood, urine. Infantile cataracts. May initially present as failure to track objects or develop social smile

Answer 109

AR deficiency galactose-1-P-uridyltransferase | Sxs: FTT, jaundice, hepatomegaly, infantile cataracts, intellectual disability

Answer 110

AR defect renal tubular transporters for cysteine, ornithine, lysine, arginine (COLA). XS cystine in urine can precipitate cystine stones. Tx: urinary alkalinization (K citrate, acetazolamide)

Answer 111

AR defects often affecting cystathionine synthase. XS homocysteine. Intell disability, osteoporosis, tall stature, lens subluxation, thrombosis, atherosclerosis

Answer 112

Von Gierke's AR. Deficient glucose-6-phosphatase. Loads glycogen in liver (hepatomegaly), increased blood lactate

Answer 113

Pompe's, AR deficiency in lysosomal-alpha-1,4-glucosidase (acid maltase) HEART (cardiomyopathy), liver, muscle.

Answer 114

Cori disease. No debranching enzyme (alpha-1,6-glucosidase) Milder version of von Gierke's but no increase in lactate

Answer 115

McArdle's Increased glycogen in muscle--can't break down due to lack skeletal muscle glycogen phosphorylase (myophosphorylase) Also have painful muscle cramps, myoglobinuira after intense exercise, arrhythmias

Answer 116

Adenosine Guanosine Inosine

Answer 117

Final product of purine breakdown | Circulates in blood at level close to its solubility

Answer 118

90% reabsorbed | 10% excreted

Answer 119

PRPP to 5-phhosphoribosyl-1 amine | Enzyne: phosphoribosylamidotransferase, with ppat

Answer 120

Faster method ``` Hypoxanthine converted (via HGPRT) to INP Guanine converted (via HGPRT) to GNP ```

Answer 121

Deficiency in HGPRT ("He's Got Purine Recovery Trouble") Devel delay by 6/12 Choreiform movements (basal ganglia) Spasticity Self-mutilation (85%), esp lip and finger biting Hyperuricemia/gout X linked

Answer 122

``` Lesch-Nyhan Partial HGRPT deficiency Glycogen storage diseases Fructose intolerance PRPP synthetase overactivity ```

Answer 123

Myeloproliferative disorders Lymphoproliferative disorders Chronic hemolytic anemia Severe psoriasis

Answer 124

CKD Down's syndrome Pb poisoning Aspirin

Answer 125

Monosodium urate crystals | Negatively birefringent crystals (yellow when parallel, blue when perpendicular)

Answer 126

``` Calcium pyrophosphate crystals Positively birefringent (blue when parallel, yellow when perpendicular) ```

Answer 127

Exquisite pain Affected joint is hot, swollen, tender 1st MTP joint is first site in 50%--involved in 90% overall Tx with NSAIDs, colchicine, glucocorticoids

Answer 128

Not that painful Allopurinol Drink plenty water Slow down on the vodka Probenecid

Answer 129

Addison's disease AND primary hypothyroidism

Answer 130

Short synacthen test

Answer 131

VLDL: 13% LDL: 70% HDL: 17%

Answer 132

Hypercholesterolemia Hypertriglyceridemia Mixed hypolipidemia Hypolipidemia

Answer 133

AD mutation LDL receptor, apoB, or PCSK9 genes.

Answer 134

Multiple loci incl NP1L1, HMGCR, CYPA1 polymorphisms

Answer 135

Some cases associated with CETP deficiency

Answer 136

Mutations ABC G5 and G8 (genes that prevent absorption plant sterols...atherosclerosis occurs earlier when mutations are present)

Answer 137

Bind LDL receptor and promote its degradation Gain-of-fn mutations can cause familial hypercholesterolemia Loss-of-fn mutations associated with low LDL levels

Answer 138

Lipoprotein lipase or apoC II deficiency

Answer 139

Increased synthesis TG

Answer 140

Sometimes due to apoA V deficiency

Answer 141

Inversely related to HDL levels; directly related to LDL levels

Answer 142

Best at decreasing LDL. Slight decrease in TGs and slight increase in HDL

Answer 143

Can't really get this any more

Answer 144

Not very good at decreasing LDL | Very good at decreasing TGs and decent at increasing HDL

Answer 145

Blocks cholesterol absorption | Decrease in LDL levels

Answer 146

Bile acid binding resin | Decrease in LDL

Answer 147

Inhibits pancreatic lipase | Steatorrhea

Answer 148

Osmolality: mOsm/kg Osmolarity: mOsm/L Often incorrectly used in medical literature. By the bedside addition of Na, K etc is osmolarity. Lab tends to use osmolality. However, there are complex equations to convert between two

Answer 149

Perchlorate

Answer 150

Block iodination of tyrosine residues E.g. carbimazole, propylthiouracil

Answer 151

Converts iodide into iodine

Answer 152

Converts iodine to thyroxine

Answer 153

Amiodarone | Lithium

Answer 154

Compensated. Increased TSH, normal T4 Associated with hypercholesterolemia

Answer 155

hCG resembles TSH so can become hyperthyroid NORMALLY, TSH decreases slightly and T4 increases, but with increased TGB, therefore euthyroid

Answer 156

``` Alteration in pituitary-thyroid axis in non-thyroidal illness Can be any severe illness. Low T4 when severe, High normal TSH, later decreased Low T3 and reduced T3 action ```

Answer 157

Graves (40-60%) Toxic multinodular goiter (30-50%) Single toxic adenoma (5%)

Answer 158

Graves Toxic multinodular goiter Single toxic adenoma

Answer 159

Subacute thyroiditis | Post-partum thyroiditis

Answer 160

Most common type of thyroid cancer (80%) RFs: exposure to ionizing radiation in childhood Orphan Annie nuclei, psammoma bodies Great prognosis

Answer 161

Surrounded by fibrous capsule Mets hematogenously spread (NB most carcinomas spread via lymphatics; this one is an exception) Must differentiate from follicular adenoma (spread through capsule)

Answer 162

Prolif parafollicular C cells (thus, may get increased calcitonin thus hypocalcemia) 5% thyroid carcinomas Familial causes due to MEN syndrome (MEN 2A and 2B). Note both MEN 2A and 2B associated with RET oncogene

Answer 163

Rock hard thyroid + elderly Often invades local structures, causing dysphagia or resp compromise Poor prognosis

Answer 164

Follows viral infection Tender thyroid with transient hyperthyroidism Self-limiting. 15% may progress to hypothyroidism

Answer 165

Chronic inflamm with extensive fibrosis of thyroid Presents as hypothyroidism with "hard as wood" nontender thyroid Clinically mimics anaplastic carcinoma, but pts younger (40s) and no malignant cells

Answer 166

AI destruction thyroids HLA-DR5 MCC hypothyroidism in areas where iodine sufficient Initially may present as hyperthyroidism (follicles damaged) Anti-thyroglobulin and antithyroid antibodies Increased risk B-cell (marginal zone) lymphoma

Answer 167

Enlarged thyroid with multiple nodules Relative iodine deficiency Usually non-toxic (euthyroid) Rarely, can have regions that become TSH-independent....toxic goiter

Answer 168

Hypothyroidism in neonates and infants Mental retardation, short stature with skeletal abnormalities, coarse facial features, enlarged tongue, umbilical hernia. ``` Causes: Maternal hypothyroidism in early pregnancy Thyroid agenesis Dyshormonogenic goiter Iodine deficiency ``` Guthrie test (heell prick)

Answer 169

Accumulation of glycosaminoglycans in skin and soft tissue. Results in deepening of voice and large tongue Seen in hypothyroidism, pretibial myxedema in hyperthyroidism

Answer 170

``` RDS Retinopathy of prematurity Interventricular hemorrhage PDA Necrotizing enterocolitis ```

Answer 171

Nephrons start developing from week 6 Start producing urine from week 10 Functional maturity GFR not reached until about 2 years age

Answer 172

Lower reabsorption capabilities (shorter prox tubule) Slow excretion solute load Limited amt Na available for H+ exchange Reduced concentrating ability Distal tubule relatively unresponsive to aldosterone

Answer 173

``` Rare CAH (21 hydroxylase deficiency) ```

Answer 174

``` Prenatal infection/sepsis/hepatitis Hypothyroidism Breast milk jaundice hemolytic disease G6PD defic Crigler-Najjar Biliary atresia, choledoeal cyst ```

Answer 175

Analyzing samples for drugs/poisons and interpreting the significance

Answer 176

Reports/results used in court

Answer 177

``` (Section 3 Coroner's Act) Report following deaths to coroner: 1. Violent 2. Unnatural or sudden 3. Cause of death unknown ```

Answer 178

Arrhythmias, acute HF, MI, coronary vasospasm

Answer 179

Direct toxic effect on the heart | Also cause hyperthermia, which causes rhabdomyolysis, which causes renal failure

Answer 180

Blood/serum-drugs typically can't be detected past 12 hrs Drugs incorporated into hair from blood stream during growth phase Hair grows about 1cm/mo = tape-recording of drug use Use gas-chromatography/mass spec

Answer 181

Problem in heme synthesis | Often get funny colored urine and cutaneous symptoms

Answer 182

AIP Hereditary coproporphyria Variegate porphyria All AD Only AIP does not have skin lesions

Answer 183

Defective HMB synthase (PBG deaminase) | Abdo pain and vomiting, tachycardia, HTN, seizures, psychosis

Answer 184

Defective coporphyrinogen oxidase AD Skin lesions

Answer 185

Defective protoporphyrinogen oxidase AD Skin lesions

Answer 186

Porphyria cutanea tarda (PCT) Erythropoietic protoporphyria Congenital erythropoietic porphyria

Answer 187

Defective uroporpyrinogen decarboxylase | Skin lesions after sun exposure

Answer 188

Defective ferrochelatase | Skin lesions after sun exposure

Answer 189

Defective uroporphyrinogen III synthase | Skin lesions after sun exposure