Goljan High Yield 100Pgs

Front 1

Changes in pregnancy - serum

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greater increase in plasma volume than RBC mass - dilutional effect decrease hematocrit and Hb, also increases glomerular filtration and creatinine clearance due to increased plasma volume. As such decreases kidney function substrates such as BUN, creatinine, uric acid.

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Changes in pregnancy -hormones

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increased alk phos from placenta.

respiratory alkalosis from estrogen/progesterone CNS effect causing increased CO2 clearance.

Increased T4 and cortisol levels due to increased binding proteins(thyroid binding protein/transcortin) but same free levels, so no hyperfunction.

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Main lab difference in male/female

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males have more Hb and iron

Front 4

Children - lab differences

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Increased Alk phos, osteoblasts release enzyme when stimulated by Vit D

Increased serum phosphate - required to drive calcium into bone

Slight decrease in Hb concentration when compared to adult levels

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Newbown - lab differences

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High Hb due to increased HbF

-left shifts oxygen curve(tissue hypoxia) ---> stimulus for EPO --> increases RBC production with subsequent Hgb increase

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HgF

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protects newborns with sickle cell.

Synthesis can be increased using hydroxyurea. Also known as Hydroxycarbamide.

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Sickle Cell trait shows up 6-9 mo of age

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dactylitis(bone infarction in digits)

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Falsely increase serum TG levels

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eating before drawing blood. Diet derived TG in chylomicrons falsely elevate sample.

Fasting does NOT affect HDL and cholesterol levels, but is necessary for LDL levels because LDL is calculated with TG levels.
LDL = CH-HDL-TG/5

Front 9

Drugs enhancing the cytochrome system in SER

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alcohol, barbiturates, rifampin, phenytoin

Cause SER hyperplasia, increase synthesis of GGT(gamma guanylyl transferase) which cause a decrease drug levels due to increased metab.

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Drugs inhibiting cytochrome system

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H2 blockers, proton blockers,

can lead to drug toxicity

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Significance of ESR in old age

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probably indicates a disease process

Front 12

Lab alterations in alcoholics

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enhances P450 -- increases GGT synthesis, which is an excellent marker for liver disease

increase NADH brings relative NAD+ deficit forcing pyruvate to make lactate creating lactic acidosis. Fasting hypoglycemia(liver can't use pyruvate for gluconeogenesis) hypertriglyceridemia and ketone bodies made, specifically beta-hydroxybutyric acid(NADH dependent). HyperTG because acetyl-coa an alcohol metabolite and precursor for TG synthesis.

Hyperuricemia --> ketone bodies and lactic acid compete with uric acid in kidney for excretion

increased anion gap metabolic acidosis -- ketones/lactate

1,3 BPG --> DHAP --> glycerol-3-phosphate --> TG

acetyl coA metabolite of alcohol, makes acetoacetic acid, NADH converts to beta hydroxybutyricacid.

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GGT vs ALP

Back 13

both sensitive for gall bladder disease, but ONLY ALP elevated in bone mets

Front 14

Lab alterations in smokers

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Respiratory acidosis -- air gets in but cant get out, CO2 retained

Hypoxemia -- low PaO2

increased CO, secondary polycythemia(low PaO2 stims EPO), absolute neutrophilic leukocytosis(decrease in leukocyte adhesion molecules on endothelial cells mobilizes latent pool of leukocytes into free circulation)

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Plasma/Serum turbidity

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due to an increase in TG. Does not happen with increase in cholesterol.

TG is carried by lipoproteins and VLDL.

TG falsely increased after eating

Chylomicrons form a SUPERNATANT because they are less dense than VLDL. VLDL forms an INFRANATANT

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Serum albumin with serum calcium relation

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low serum albumin will decrease total calcium, but not free calcium. Normal PTH and no tetany.

Front 17

Cystic Fibrosis

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3 nucleotide deletion, cf transmembrane regulator defective and degraded BEFORE reaching cell membrane but AFTER golgi mods.

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Tay Sachs

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4 base insertion produces frame shift, codes for DEFECTIVE hexosaminidase

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sickle cell disease

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point mutation involving thymidine replaced by adenine codes for valine instead of glutamic acid

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beta thalassemia major

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point mutation makes a STOP codon

Front 21

trinucleotide repeat disorders

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progressively worse disease in successive generations(anticipation), Huntington's disease(AD), Fragile X syndrome(female carriers eventually become symptomatic), Friedrich's ataxia(AD), Myotonic Dystrophy(AD)

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Nondisjunction

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majority happens in MEIOSIS I

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Cri du chat

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short arm of 5 deletion, mental retardation and cat cry

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microdeletion syndromes

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also on arm 5 just like cri-du-chat(short arm deletion). Angelman(happy/mute) and prader-willi(fat)

genomic imprinting--2 chromosomes from same parent

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African american genetic disorders

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Sickle cell disease, alpha/beta thalassemia, g6PD, hereditary persistence of Hbf

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Ashkenazi Jews genetic disorders

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Factor XII deficiency
gaucher's disease(beta-glucocerebrosidase--accums glucocerebroside--AR)
Tay-sachs disease(hexosaminidase A--accums gm2 gangliosides--AR)

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northern european genetic disorders

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Cystic fibrosis -- MOST COMMON disorder regarding fertility due to early death/fertility

Front 28

Mediterranean genetic disorders

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G6Pd, sickle cell, beta thalassemia,

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southeast asians genetic disorders

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alpha thalassemia

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down's syndrome

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endocardial cushion defections(combined ASD VSD),
GI -- duodenal atresia(double bubble xray), Hirschprung's disease
hematologic -- increased incidence of leukemia

CNS - alzheimers due to Chrom 21 coding for beta amyloid proteins which are converted to amyloid and are toxic to neurons. Pretty much any patient under 40 with alzheimers has downs.

reprod -- ALL MALES STERILE. FEMALES have 50 percent transmission of down's

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trisomy 18(edwards syndrome)

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severe mental retardation, CLENCHED HANDS WITH OVERLAPPING 2ND AND 5TH DIGIT, rocker bottom feet.

Arm leg abnormalities

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trisomy 13(patau's syndrome)

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cleft lip/palate, severe mental retardation, polydactyl, and cystic kidneys

POLYDACTYL and CYSTIC KIDNEYS

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Mendelian Disorders overview

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AD - AR - SXR- SXD

AD usually structural defects BUT can be associated with enzymes.

MOST COMMON cause of AD disease without family HX is a result of incomplete penetrance

common AD diseases -- vWf disease(remember Desmopressin), familial hypercholesterolemia, adult polycystic kidney disease, hypertrophic cardiomyopathy, huntington's disease, neurofibromatosis, congenital spherocytosis(lack of spectrin), familial polyposis, acute intermittent porphyria, osteogenesis imperfecta, marfan syndrome

Front 34

AD disorders with enzymes

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Acute intermittent porphyria(defective heme production due to defective porphobilinogen deaminase leads to accum of porphorin in cytoplasm), hereditary angioedema(C1 esterase inhibitor deficiency leads to decreased/absent C1)

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Penetrance vs Expressivity

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penetrance describes whether people manifest ANY disease traits whatsoever.

Variable expressivity describes the level of disease.

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AR disorders

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most are ENZYME deficiencies, inborn errors of metabolism and whatnot. G6Pd and Lesch-nyhan syndrome are SXR

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AR diseases that are NOT enzymatic in origin

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CF, sickle cell, hemochromatosis, wilson's disease,

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Lesch nyhan syndrome

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deficiency of HGPRT, no inhibition of PRPP in purine metabolism.