Boards Summary 1

Front 1

5 types of drugs invovled in MT inhibition

Back 1

mebendazole/thiabendazole (antihelminthic),
griseofulvin (antifungal),
vincrinstine/vinblastine (anti-cnacer)
paclitaxel (anti breat cancer)
cochicine (anti-gout)

Front 2

trinucleotide repeat disorders

Back 2

tri hunting for my fried eggs
huntingtons CAG
friedrick's ataxia GAA
fragile X CGG
myotonic dystophy CTG

Front 3

leber's optic dystrophy

Back 3

mitochondrial disorder
degen retinal gangion cells
loss of central vision

Front 4

prader willi

Back 4

15q11 imprinting paternal


infancy-mental retardation; hypotonia, poor feeding, almond eyes downward turned mouth; hyperphagia, obesity, short (partial GH def), MR, tantrums, skin picking, OCD; hypogonadotropic hypogonadism→genital hypoplasia, osteoporosis, delayed menarche; dx: FISH; tx: limit food; DNA methylation alters phenotype (silence gene expression)

Front 5

angelman's syndrome

Back 5

imprinting
inact of chrom 15 uniparental disomy maternal, single locus 1 allele active -happy puppet, jerky happy, mental retardation, ataxia inappropriate laughter

Front 6

XR disorders

Back 6

XR-(sons of hetero mothers 50% males) WBC; Fabry’s Tale: Duke the Muscular Hunter Brutally Lysed the Albino Gopher w/o aWAre it was a Fragile Hemophiliac; bruton’s, wiskott Aldrich, fabry’s disease G6PD def, ocular albinism lesch nyhan, duchenne’s and beckers muscular dystrophy, hunter’s syndrome, hemophilia A/B; CGD,

Front 7

fragile X

Back 7

↑ trinucleotide repeats FMR1-“famial mental retardation”, long face, prom jaw, large ears, cleft palate, macroorchidism, MVP, short, joint laxicity, scoliosis, pes cavus, single palmus crease; nick on the X chrom; gene methylation

Front 8

Duschenne’s-

Back 8

XR frame shift →deletion of dystorphin gene accelerated mm breakdown. Weakness begins in pelvic girdle in mm and progresses superiorly. Pseduohypertorphy of calf mm due to fibrofatty replacement of mm; cardia myopathy; Gower’s maneuver requiring assistance of upper extreme to stand up; <5y/o; DMD ↑rate of spont mutation; dystrophin anchors mm fibers in sk and cardiac mm ↑CPK and mm biopsy

Front 9

becker's

Back 9

XR mutated dystorphin. Less severe onset in adolescence or early adulthood; ↑CPK an dmm biopsy

Front 10

G6PD def

Back 10

XR)- ↓NADPH prod ↓ glutathione in mature RBCsintravasc hemolytic anemia (hemoglobinuria)infections, oxidant drugs (dapsone, PQ, TMP) fava beans IZD high dose apirin, napthiline; ↑H2O2 in RBCs denatures Hb (Heinz bodies) and damages the RBC membraneintravasular heomlysis; Mac removal of damaged RBCsbite in peripheral blood; inc suscept to infection ↓NADPH compromises NADPH oxidase so MPO system can’t kill bacteria; bite cell-chronic; Heiz bodies-acute

Front 11

AD disorders

Back 11

usually structural (often pleiotropic, after puberty FH) 50%; ADOMINANT (APKD, dystrophic myotonia, osteogenesis imperfcta/osler, marfans, intermittent porphyria, NF, achondroplasia, none, tuberous sclerosis, hypercholest, huntingtons, HOCM, hered sphero, hered non polypsis hered telangictasia; vWD, vHL, PTH

Front 12

achondroplasia

Back 12

dwarfism, ↑ paternal age,; failure of longitudinal bone growth (endochondrial ossification)→short limbs; large head; FGFR3 ↓ chondrocyte prolif; AD-50%. Normal life span and fertility normal intelligence

Front 13

ADPKD

Back 13

always b/l, massive enlargement of kidneys due to multiple large cysts. Flank pain hematuria, HTN, progressive RF, urinary infection, ↑renin assoc w/ polycystic liver disease,APKD1 assoc w/ polycystic liver disease berry aneurysms, MVP, infantile is AR

Front 14

FAP

Back 14

AD
5q two hit hypothesis can progress to CRC thoughsands of polyps always RECTUM; familial adenomatous polyposis; polyps after puberty must be taken out; nuclear transcription by catenin, colon cancer APC 5

Front 15

famial hypercholesteralemia hyperlipidemia 2a

Back 15

AD
↑LDL defect or absent LDL Rc, heterozygotes 1:500 CH=300 homozygoes 700, severe atherosclerotic disease early in life; tendon xanthomas Achiles tendon, MI before age 19; chrom 19

Front 16

hereditary hemorragic telangictasia

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osler weber rendu syndrome)-inherited disorder of bv; telangietasia, recurrent epistaxis, skin discolorations, AV malformations
AD

Front 17

hereditary spherocytosis

Back 17

AD
spheroid erythrocytes due to sepctrin or ankyrin defect, hemolytic anemia ↑MCHC, pslenectomy curative; diagnose osmotic fragility

Front 18

huntington's disease

Back 18

AD
AD trinucleotide repeat. C’s chrom cuatro (4), 40, caudate nucleus atrophy CAG repeat, crazy, Chorea, enlarged lat ventricles (sometimes inititally mistaken for substance abuse). Neuronal death via NMDA_R biding and glutamate tox. Atrophy of striatal nuclei (main inhib of movment) see on imaging; CAG (caudate loses Ach and GABA-precursor glutamate def in B6…convulsions); tx: dopamine blockers (haloperidol); silence by methylationneurotrophic proteins

Front 19

marfan's disease

Back 19

AD
fibrillin gene mut CT disorder skeleton, heart eyes; tall long extreme, pectus excavatum, hyperextensive joint, arachnodactyly, cystic medial necrosis of aorta, arotic incompetence dissecting aortic aneurysms floppy mitral valve subluxation lenses; berry aneurysms

Front 20

MEN1

Back 20

pancreas (ZE, insulinoma, VIPomas, glucaonomas), pit (prolatin/GH), parathyroid; kidney stones and stomach ulcers

Front 21

men 2A

Back 21

men Ca thyroid, pheo, parathyroid;

Ret gene also in medullary/papillary thyroid 2A/B; AD

Front 22

men2b

Back 22

Men 2b-med ca thyroid, pheo,mucosal neuroma, marphanoid habitus;

Ret gene also in medullary/papillary thyroid 2A/B; AD

Front 23

NF-1

Back 23

(von Recklinghausen’s)-café au lait, enural tumors, Lisch nodules (iris hamartomas) sk disorders scoliosis optic path gliomas; chrom 17

Front 24

NF-2

Back 24

b/l acoustic schwannomas, juvenile catarach NF2 gene chrom22

Front 25

tuberous sclerosis

Back 25

facial angiofibroma, seizures, mental retardation, cardiac rhabdomyoma, adenoma sabceum, hypopig ashleaf spots on skin, cortical retinal hamartomas→ seizures, renal cysts b/l renal angiomyolipomas, cardia rhabdomyomas, ↑astrocytomas; incompletepenetrance, variable

Front 26

vHL

Back 26

cappillary rich ↑VEGF , hypoxia inhibitory factor 1 hemangioblastomas of retin/Cb/medulla; half of individuals develop b/l RCC and other tumors; deletion of VHL tumor suppressor on chrom 3p; HIF transcription factor and act of angiogenic gf; pheochromocytomas; EPO

Front 27

ehlers danlos syndrome

Back 27

-Mutations in T3 collagen , Clinical -Loose joints, hyperelasticity of skin, Risk for aortic dissections, tendency oto bleed (easy bruising,) AD or AR; berry aneurysms, organ rupture, joint dislocation

Front 28

osteognesis imperfecta

Back 28

AD, brittle bone disease bone disorder; confused w/ child abuse; T2 is fatal; TI collagen , Clinical: Multiple fractures, Retarded wound healing, Blue sclera-choroidal veins, hearing loss dental imperfections (lack of dentin)

Front 29

AR diseases

Back 29

25% 2 carrier parents, 1 gen, more severe than dom, childhood, enzyme) ABCDEFGHH sickle cell, PKU, Wilsons thalassemia, von gierke’s mcardles albinism, ARPKD, B, CF, deaf, emphysema, friedricks ataxia, gauchers galactosemia, hemociderois hartnup, homocysteinuria, xeroderm pigmentosum, , kartagener, LAD, chediak higashi, SCID, 5a reductase def; glycogen storage disease, , mucopolysaccharidoses (not Hunter’s), sphingolipidoses,

Front 30

CF

Back 30

AR (def post trans abnormal protein filding CFTR in golgi bodies (degraded) secretes Cl in lungs and GI and actively resabosrbs Cl from sweat defect abnormal thick mucus that plugs lungs pancreas and liver recurrent pulm infections), recurrent pneumonia (b/l lower lobe); chrom 7 deletion of Phe, ashkenazi jews; ↑ sweat chloride; pseudomonas and HI, staph, chronic broanchitis, bronchietasis, pancreatic insuff (thick supposed to resorb Cl to Na follow w/ water clean it out) malabsorption steatorrhea, meconium ileus in newborns; AR ; nasal polyps heat exauston, T1DM, rectal prolapsed, gall stones; infertility in males b/l absence of vas deferents; ADEK def; failure to thrive in infacy; MC lethal genetic disease; ↑Cl in sweat test >60mEQ/L (NaCl); tx: N acetylcystein loosen mucous plugs (cleaves disulfide bonds w/in mucous glycoproteins)

Front 31

cherry red spot

Back 31

central retinal A occlusion, tay sacks niemann-pick

Front 32

fabry's disease

Back 32

lysosomal storage disease
XR), ↑ Ceramide trihexosides, (↓a-galactosidase A), Paresthesia in extremities, reddish-purple skin rash, cataracts.; peripheral neuropathy of hand/feet, angiokeratomas, HF/RF treat dialysis

Front 33

gaucher's disease

Back 33

-(AR), MC ↑Glucocerebrosides (↓b-glucosidase), HSM. Macrophage accumulation in liver, spleen, bone marrow. Fibrillar appearing macrophages. Certain types compatible with life; asceptic necrosis of femur bone crises
lysosomal storage disease

Front 34

neimann pick

Back 34

lysosomal storage disease
–-(AR), ↑Sphingomyelin, (↓sphingomyelinase), HSM. Mental retardation. . Fatal early in life; neurodegen cherry red spot on macula, foam cells (mac); early death

Front 35

tay-sachs disease

Back 35

lysosomal storage disease
-(AR), ↑GM2 gangliosides (↓hexosaminidase A), frameshift mut 4 base insertion; severe mental retardation, dev delay, Muscle weakness and flaccidity (floppy babies), Blindness, cherry-red macular spot, No HSM, Occurs primarily in eastern European Ashkenazi Jews, AR: 1:30 carrier rate 30X30=1:900 prevalence; 1:4, 1:3600 to go backwards; early death

Front 36

krabbe's disease

Back 36

lysosomal storage disease
-(AR), ↑Galactocerebrosides (↓galactocerebrosidase), Progressive psychomotor retardation. Large “globoid bodies” in brain white matter. Fatal early in life.; peripheral neuropathy, dev delay, optic atrophy; early death

Front 37

metachormatic leukodystrophy

Back 37

lysosomal storage disease
AR), ↑Sulfatides, (↓arylsulfatase A), Mental retardation. Developmental delay. Peripheral neuropathy. Urine arylsulfatase decreased. Death within first decade.; central and peripheral demelination w/ ataxia dementia
mucopolysaccharides

Front 38

hurler's disease

Back 38

lysosomal storage disease
AR, ↓ a-L-iduronidase, ↑ dermatan and heparan sulfate ; Clinical findings -Severe mental retardation, Coarse facial features (gargoylism), HSM, corneal clouding, CAD (lipid accumulates in coronary vessels), Vacuoles in the lysosomes of peripheral blood leukocytes (skees milder). Years after birth

Front 39

hunter's disease

Back 39

lysosomal storage disease
XR, ↓ iduronate sulfatase, ↑ dermatan and heparan sulfate , Less severe when compared to Hurler’s disease ; no corneal clouding, mental retardation

Front 40

I cell disease

Back 40

lysosomal storage disease
corneal clouding no mental retardation; Ø P mannose residues of potential lysosomal enzymes (M6P) , No transfer of enzymes to lysosomes, Empty lysosomes cannot degrade complex substrates, Inclusions of undigested material accumulate in cytosol, Patients have psychomotor retardation early death. OPP IS CGD, coarse facies, sk abnormalities

Front 41

homocysteinuria

Back 41

ØCystathionine synthase (↓Met, ↑Cys ↑B12/folate) ↓affinity for synthase for B6 (↑↑↑B6), methytransferase de; , Mental retardation, vessel thrombosis; marfanoid, arachnodactly, lens dislocation (down and in), atheroslcerosis and storke), DVT; homocystine in urine, osteoporosis

methionine to homocysteine (SAM and B12) to methionine with B6 to cythationine to cysteine

Front 42

maple syrup urine disease

Back 42

Branched chain α-ketoacid DH, Leucine, valine, isoleucine (I Love Vermont), , Mental retardation, seizures, feeding problems, sweet-smelling urine

Front 43

alkcaptonuria

Back 43

Homogentisate oxidase, AR, benign ; Black urine, sclera, cartilage-dark CT, degenerative arthritis

Front 44

PKU

Back 44

Phenylalanine hydroxylase, Phe→tyrosin (↓) -mouse urine (aromatic AA MUSTY odor), seizures, eczema, Mental retardation, microcephaly,Ø phenylalanine; avoid artificial sweeteners (nutrisweet), blond hair-def in melanin; 2-3 days after birth, phenytktones (acetate, lactate, pyruvate) AR ; maternal: lakc of proper diet; microceph, metnal retard growth retard, heart defect

Front 45

malignant PKU

Back 45

tetrahydrobiopterin reductase def, Inc phenylaline, DOES NOT GET better giving tyrosine; also def in NTserotonin, Tyrosinosis, CirrhosisHCC

Front 46

albinism

Back 46

tyrosinase (no melanin form tyrosine AR) or defectin tyrosin transporters; lack migration of neural crest ↑risk skin cancer
Cystinuria -AR, Defective transport cystine, ornithine, arginine, and lysine COLA in PT of kidney; exces in urine→stone staghorn , (hexagonal crystal); disulfide; alkalinize urine w/ acetazolamide

Front 47

hartnups disease

Back 47

AR disorder with defect in intestinal and renal reabsorption of neutral amino acids , Essential amino acids tryptophan, isoleucine, leucine, valine, threonine, phenylalanine; and, nonessential AAs alanine, serine, tyrosine , Clinical findings related to tryptophan deficiency, Pellagra may develop, since tryptophan is used to synthesize niacin , Must treat patient with niacin and other essential AAs

Front 48

von gierke's T1

Back 48

G6Pase gluconeogenic enzyme; liver and kidney; build up of glycogen (no glucose), no matter what test can’t stim glucose; hepatorenomegaly (build up of glucagon), ↑uric acid; Ø glucagon, cortisol, galactose stimulation test. fasting state severe fasting hypoglycemia; tired, mental status abnormalities, seizures, Hepatorenal megaly-build up of glycogen. Giving glucose does nothing; hyperuricemia

Glycogen storage diseases –AR-. Hypoglycemia w/ a glycogenosis in the liver; NOT then mm

Front 49

pompe's T2

Back 49

a1,4 glucosidase; cardiomegaly and early death by 3; a lysosomal disease build up; T3 cori’s –a1, 6 def more mild

Glycogen storage diseases –AR-. Hypoglycemia w/ a glycogenosis in the liver; NOT then mm

Front 50

Mc ardle's T5

Back 50

skeletal muscle phosphorylase; ↑glycogen in muscle but can’t break it down leading ot painful muscle cramps, myoglobinuria w/ strenuous exercise NO hyperglycemia; lactic acid does NOT increase, ↑serum CK

Glycogen storage diseases –AR-. Hypoglycemia w/ a glycogenosis in the liver; NOT then mmv

Front 51

galactokinase def

Back 51

-(AR), ↑ in galactose and galactitol (sugar alcohol). Cataracts. mild

Front 52

galactosemia

Back 52

(AR), Ø GALT. ↑ galactose, galactose 1-P (very toxic), and galactitol (sugar alcohol)-osmotically active and damages tissues. (cirrhosis), mental retardation, cataracts, hypoglycemia. Ø galactose and lactose from diet (dairy). Women with the disorder can synthesize lactose in breast milk due to epimerase reaction. Days to weeks after birth

Front 53

essential frutoseuria

Back 53

-(AR) Ø fructokinase. ↑ fructose in blood and urine. Benign condition marked by fructosuria.

Front 54

fructose intolerance

Back 54

-(AR) Ø aldolase B- only in liver and kidney. ↑ in fructose , fructose 1-P (toxic). Excess fructose traps P in cells leading hypoPand ↓ in ATP. liver, renal disease. Severe fasting hypoglycemia, hypophosphatemia, ↑ uric acid (metabolism of AMP). ↓ intake of fructose and sucrose (glucose + fructose) in diet

Front 55

lactose

Back 55

Small bowel brush border disaccharidase enzyme ; lactose → glucose and galactose . Lactase deficiency produces osmotic diarrhea. UDP-galactose -lactose synthesis in breast tissue (lactase synthase) , glycoproteins, glycolipids, and glycosaminoglycans. If GALT is deficient, lactose can still be synthesized in breast tissue, UDP-glucose converted to UDP-galactose by epimerase reaction. UDP-galactose converted to lactose by lactose synthase ,

Front 56

dermatin sulfate

Back 56

Primarily found in skin and valvular tissue in the heart , ↑ of dermatan sulfate in heart valves (called myxomatous degeneration) is associated with MVP

Front 57

myxedema

Back 57

↑ in hyaluronic acid and chondroitin sulfate in subcutaneous tissue , Feature of Graves’ disease (pretibial) and Hashimoto’s thyroiditis (periorbital)

Front 58

hyalurinic aicd

Back 58

Major component of synovial fluid (joint lubricant)

Front 59

trisomy 21

Back 59

Down’s-#1 nondyjunction; #2 robersonean tranlocation (balanced translocation) 1% down mosaicism-no maternal assoc); endocardial cushion defects (ASD, VSD AV regurg vavles, CHD), flat facies, epicathic folds, alziemer’s (APP gene on chrom 21), AML/ALL , duodenal atresia and hirsprungs annular pancreas, slanted palpebrals, pelvic dysplasia, single palmer crease, TE fistuala, mental retardation; ↓AFP, ↑bHCG ↓estriol ↑inhibin A; ultrasound shows ↑nuchal translucency

Front 60

trisomy 13

Back 60

Patau Robertsonian translocation prechordal mesoderm devmental retard, no smell, Polydactyly rocker bottom feet, PDA, ASD, VSD, PKD, umbilical hernia, FACe-cyclops, deaf, scalp, b/l cleft lip, microcephaly, micropthalamos (Patau //puberty) 3rd MC no dysjunction; advanced maternal age; defect in Sonic hedge hog geneholoProsencephaly (procenceph wk 4 prob)

Front 61

trisomy 18

Back 61

Edwards/election; prominent occiput, micrognathia, microcephaly, small mouth, low ears, rocker bottom feet, clenched hands, meckel’s/malrotation, CHD; death usually by 1 yr; ↓bhCG ↓AFP↓estriol

Front 62

cri du chat syndrome

Back 62

congential microdeletion of short arm of chorm 5p 46XX/XY; microcephaly mod to severe mentral retardation, high pitched crying mewing epichathal folds cardiac abnormalities, looser joints

Front 63

williams syndrome

Back 63

congenital microldeletion of long arm chorm 7 elastin gene; “elfin” facies mental retardation, hypercalcemia ↑sn to vit D, well dev verbal skills extreme friendliness w/ strangers CV problems;

Front 64

22q11 syndrome

Back 64

variable CATCH-22 cleft palate abnormal facies, thymic aplasia (T cell def) cardiac dfects hypocalcemia 2° to parathyroid aplasia digeorge syndrome, velocardiofacial syndro e-palate facial and cardiac defects

Front 65

digeorge

Back 65

Thymic aplasia-chrom 22 3rd/4th pouch no T cells, no PTH=no ca=tetany, recurrent viral/fungal/protozoal infections, congenital heart/great vessel defects (tetrology of fallot); FISH 22q11; no CMI

Front 66

kleinfelter's

Back 66

XXY 47 (myotic nondisjunction) normal until puberty; affects males, tall poor 2° sex atrophic testes infertility (hyalinization and fibrosis of seminiferous tubules→↓inhibin ↑FSH), tall gynecomastia testicular astrophy, abnl leydig ↓T (can lead to eunicoid) infertility ↑FSH/LH; poss mild mental retardation, F hair distribution; barr body;

Front 67

turner's syndrome

Back 67

XO monosomy 45 nondisjunction or mosaics (mitotic error in early development) female streak gonads no 2° sex, congenital, broad chest, short, webbed neck no estrogen ↑FSH, LH, horseshoekidney, cystic hygroma, bicuspid aortic valve, preductal coarctation, MCC of 1° amenorrhea; no barr body; normal intelligence

Front 68

47xxx

Back 68

dec IQ; norma, tall, acne, antisocial, normal fertility

Front 69

XYY

Back 69

norma, tall, acne, antisocial, normal fertility

Front 70

true hermaphridites

Back 70

46XX, 47XXY-ovary and testicular tissue present ovotestis; ambigouous genitalia VERY RARE; diff b/n phenotypic and gonad; F pseudohermaphrodite-46 XX ovaries virizied/ambigious ext genitalia→excessive androgenic steroids in early gestation (congenital adrenal hyperplasia or exogenous 21/11)

Front 71

46XY male psuedohermaphridite

Back 71

testes, female/amibgous ext gen; androgen insensitivity syndrome (MCC testicular fem)=defect in androgen receptor normal appearing female (only 2/3 vagina, uterus/tubes absent; no sexual hair; testes in labia majora; surgically removed to prevent malignancy; ↑↑↑T, E, LH

Front 72

5a reductase def

Back 72

AR, genetic males affected; no T→DHT; ambigious genitalia until pubery then testosterone casues masculization/↑growth ext genitalia; T/E are normal; LH normal; “penis at 12” int genitalia normal

Front 73

kallman's syndrome

Back 73

males; ↓GnRH by ant pit primary amenorrhea no 2° sexual, anosmia; delayed puberty, FGF-1/KAL-1 poss cleft lip, small testes

Front 74

kleinfelter's and turner's similar how?

Back 74

Kleifelter’s and turner’s simililar inc LH and FSH dec estrogen or testosterone

Front 75

mullerian agenesis

Back 75

fully dev 2° sex but uterus abnl, imporforate hymen

Front 76

digeorge

Back 76

deletion chrom 22; facial abnl, cleft lip, interrupted aortic arch, tetrology of fallot

Front 77

friedrick's ataxia

Back 77

AR, chrom 9 trinucleotide repeats, HOCM, 5-15 y/o; spinal ataxia diff walking( post columns, spinocerebellar tracts degen), kyphoscoliosis, pes cavus, hammertoes, DM

Front 78

kartagener's

Back 78

immotile cilia, AR, dynein mutation, male infertility, recurrent sinusitits, bronchietasis; poss situs inversus (dextro

Front 79

SLE deficiency

Back 79

C1 complement def (classical pathway)

Front 80

polymyostosis

Back 80

prox mm weak, -med inflammatory myopathy release mm autoantigens taken up into macs/T cellsIfn gamma release IL-1 TNFa ↑MHC proteins; muscle biopsy (inflammation, necrosis, regernation fibrosis +CD8 and macs); ↑CK and anti-Jo-1

Front 81

MG

Back 81

antibodies against Ach, thymoma is common (ant mediastinal mass)

Front 82

bruton's agammagblob

Back 82

XR (boys), B cell defdefective TK, bacterial infections; after 6 mo

Front 83

digeorge

Back 83

Thymic aplasia-chrom 22 3rd/4th pharyngeal pouch no T cells, failure of endodermal dev, no PTH=no ca=tetany, recurrent viral/fungal/protozoal infections, congenital heart/great vessel defects (tetrology of fallot); FISH 22q11; no CMI

Front 84

SCID

Back 84

AR 1st year of life Ø adenosine deaminase adenosine → inosine, ↑ adenosine (Ø B / T) and AMP; recurrent infections-viral, bact, fungal-candida, pneumocystis, protozoal owing to loss of both humoral and cellular immunity; tx: gene ther-apy BM transplant; diarrhea, failure to thrive, absent thymic shadow! ↓IL-2R ↓Tcell act; ↑adenine (↓dNTPs ↓DNA); NK cells is defence

Front 85

chronic mucocut candidiasis

Back 85

long term ketoconazole; T cell dysfunction Candida albicans infections of skin

Front 86

wiscott alderich

Back 86

WAITER immunodef, TP and purpura, truncal ecezema, recurrent pyogenic infections no IgM ↑↑IgA; progressive deletions of B/T

Front 87

hyperIgM syndrome

Back 87

defect CD40 on help T can’t switch, pyogenic infections; ↑IgM, ↓↓IgG, A, E; lymphoid hyperplasia and recurrent sp infections

Front 88

ataxia telancheitasia

Back 88

ATM-↓↓IgA, Cerebellar ataxia (atrophy of Cb) poor smooth persuit, ↑AFP, death 25 y/o; mutated gene defect DNA repair enzymes radiation sn; difficulting walking! Repeated SP infections, ↑ incidence of malignancy
↓↓IgA def MChealthy, sinus/lung infections, a/w atopy, asthma, blood transfusion anaphylaxis missing CD19

Front 89

IL-12 def

Back 89

: mycobact infection, ↓Th1, dissem mycobacterial infections ↓IGN-γ

Front 90

CVID

Back 90

defect B cell maturation; can be acquired 20-30, ↑ risk AI disease, SP infections, lymphoma; normal B cells ↓ plasma cells, Ig

Front 91

CGD

Back 91

susceptible to(cat + pseudomonas, serratia, nodcardia, staph, asperillus)

Front 92

chediak higashi

Back 92

AR, partial albinism, peripheral neuropathy//neuro disorders; nystagmus; giant lysosomes; abnl melanin storage so lack of

Front 93

LAD

Back 93

CD18 integrins/selectins, neutrophilia, recurrent bact, no pus, gingivitis, delayed sep of umbilicus; phagocytes can’t exit; pouch from endoderm, neurtrophils fail to respond

Front 94

hyperIgE syndrome

Back 94

(job’s syndrome)- no IFNγ neutrophils don’t respond; FATED (coarse Facies, staph Abscesses, retained primary Teeth, ↑↑IgE, Dermatologic prob (eczema)

Front 95

DAF

Back 95

CD55/59 (lysis of RBCs PNH, HAM test (low pH) flow cytometry, hemociderinuria, intravascular hemolysis; tx: give iron, warfarin, bm transplant)

Front 96

C1 esterase def

Back 96

(def hereditary angioedema)nonpitting, help prevent complement act on self cells; def of C3 severe recurrent pyogenic resp tract infections (T3HS); DO NOT GIVE CAPTOPRIL-inactivates kallikrien so even more bradykinin (angioedema is a side effect)

Front 97

serotonin location

Back 97

located in the raphe (midbrain, pons medulla)sleep wake cycle;

Front 98

NOr location

Back 98

nucleus ceruleus, for flight or fight in dorsal pons

Front 99

Ach location

Back 99

in nucleus basalis ↓ in alzeimer’s

Front 100

lesch nyhan syndrome

Back 100

XR)- The syndrome is due to total deficiency of HGPRT, the PURINE salvage enzyme for hypo-xanthine and guanine. hyperuricemia. severe mental retardation, self-mutilating behavior, aggression, choreoathetosis spasticity, gout, and urate deposition in the kidney leading to RF-; give allopurinol

Front 101

orotic aciduria

Back 101

can’t convert orotic acid to UMP (pyrimidine) defect in orotic acid PRT; AR; ↑orotic acid in urine megalobasltic anemia, failure to thrive. No hyperammonia. Tx: uridine admin

Front 102

xeroderm pigmentosum

Back 102

endonuclease
-dry skin melanoma other cancer; children of the night; Ø repair of thymidine dimmers; UV damage:; pig dry skin AR; scaling , lentigotelangistasiasSCC, BCC and MM 5-6 y/o; Defect in excision repair

Front 103

congenital hypothyroidims

Back 103

lethargic, don’t eat, jaundice, hypotonia, hoarse cry, pale skin, myxedema, macroglossia, ASD/VSD

Front 104

HNPCC

Back 104

no profreed; lynch syndrome clon endometria and ovarian cancer
AD mut DNa mismatch repair gene; 80% CRC prox colon

Front 105

appendicitis

Back 105

in adults—fecalith; child-post-viral (adeno, rubeola)

Front 106

acute intermittent porphyria

Back 106

Ø Uroporphyrinogen I synthase/deaminase: ↑ porphobilinogen (PBG) and ALA acid in the urine. Urine wine-red color. Enzyme assay in RBCs confirmatory test. Clinical-5P’s painful abdomen (“belly full of scars”), pink urine, polyneuropathy, psychological disturb, precipitated by drugs; Attacks precipitated by drugs that induce the liver cytochrome P450 system (e.g., alcohol), induce ALA synthase (e.g., progesterone), and dietary restriction. Treatment includes carbohydrate loading and infusion of heme, both of which inhibit ALA synthase activity.

Front 107

porphyria cutanea tarda

Back 107

PCT, AD or acquired)-Ø Uroporphyrinogen decarboxylase: ↑ uroporphyrin PBG levels are normal. tea color to urine Clinical- MC porphyria. H’s: herpes like-vesicles and bullae photosensitive hypertrichosis and hep C; avoid sunlight, discolor teeth (werefolf) Exacerbating factors include iron therapy, alcohol, estrogens, treatment includes phlebotomy (reduce iron levels in the liver) and CQ (unknown mechanism).