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142 Cards in this Set

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Rocker bottom feet
Edwards Syndrome - Cr 18
Cleft lip and palate
Pataus syndrome: Cr 13, also prosencephaly
DiGeorge Syndrome
Absent barr body
Turner's sydnrome 45 XO
also coarctation of aorta
Klinefelters
47 XXY
tall long, gyenocomastia, sterility
Macroorchidism
Fragile X syndrome
Hyperphagia
Cr 15
Prader Willi
Cr 15;12
no paternal contribution
2nd leading cause of MR
Fragile X syndrome in males
Snowstorm pattern on ultrasound
Hydatiform mole
Chandelier Sign
cervical motion tenderness
PID = salpingitis
CA-125
cancer ag 125
80% of ovarian cancers
Donovan bodies
granuloma inguinale- calymmatobacterium granulomatis
Most common ovarian neoplasm
serous cystadenocarcinoma
freq bilarteral

75% of ovarian tumors are epithelial in origin
Pseudomyxoma peritonei
Diffuse peritoneal seeding secreting mucus
mucus cystadenocarcinoma
burst appendix, cancer of appendix
Elevevated HCG
hydatiform mole
ectopic pregnancy
Pregnancy
Choriocarcioma (Beta HCG)
Call Exner Bodies
Granulosa Theca tumor
eosinophillic follicles
Dermoid Cyst
mature teratoma
benign - most common germ cell tumor. teeth etc
CIN III
cervical carcinoma in situ
full thickness of epithelium
Risk factors for endometrial carcinoma (6)
Exogenous ER or ER tumors
DM, obesity, nulliparity, HTN, tamoxifen
Two sites of malignant melanoma
skin and vulva (10% of malignant tumors there)
drug causes of gyneocomastia
Alcohol, ketoconazole, cimetidine, spironolactone, digitalis
Blue domed cyst
fibrocytic breast dz
breast mass tender during menstruation
most common breast d/o
Benign breast neoplasm that results in bloody nipple discharge
Intraductal papilloma
Malignant breast tumor soft fleshy and lymphocytic infiltrate
Medullary carcinoma
Leading causes of cancer death M+F
Males
1. Lung cancer
2. Prostate cancer
Females
1. Lung
2. Breast
Most common cancer M + F
Males
1. Prostate
Females
1. Breast
Reinke Crystals
sx
Leydig cell tumor
testicular
preococious puberty
Genetic variation in HIV
due to GP120 envelope protein which mutates rapidly
HIV window period
No detectable p-24 protein but still infectious
first month
Causes of elevated anion gap metabolic acidosis
Methanol
Uremia
Diabetic Ketoacidosis
Paraldahyde, phenformin
Iron, INH
Lactic acidosis
Ethylene glycol
Salicylates
Causes of Hypercalcemia
pneumonic
Calcium ingestion (milk alkali)
HyperPTH/thyroid
Iatrogenic (thiazide diuretics)
Multiple myeloma
Paget dz of bone
Addison's dz
Neoplasms
Zollinger Ellison
Excess Vit D
Excess Vit A
Sarcoid
Orange granules in diapers
earliest sign of hyperuricemia seen in affected boys of lesch nyan
Hidradenitis suppurativa
skin disease that affects areas bearing apocrine sweat glands and hair follicles; such as the underarms, groin and buttocks, and under the breasts in women.
Tear drop cells
Found in myelofibrosis
Schistocytes
Found in DIC
fragmented RBC from mechanical damage
Target Cells
liver failure or HbC dz
Lynch Syndrome
HNPCC - colon cancer, ovarian, endometrial cancers
AD, Mismatch repair prob in G2
hMSH2, hMLH1, PMS1, PMS2
Negative NBT test
means you are NAPDH oxidase deficient.

can't kill catalase positive organisms
Damage to common peroneal vs deep peroneal nerve
Both lead to foot drop but damage to common nerve leads to loss
of sensation of dorsum of foot and lateral aspect of leg.
Deep peroneal nerve - ant compartment muscles leads to just foot drop
Obturator nerve injury
weakness in adduction of leg
leads to outwd swinging of leg when walking
Tetrahydrobiopterin deficiency
Ass with phenylketonuria - produces "malignant phenylketonuria"
common in turkey, saudia arabia, taiwan
Pyridoxine
Found in aminotransferase rxns
and Delta ALA synthase (Hb synth)
Cardiac rhabdomyoma association
Tuberous Sclerosis
Malignant Thymomas
Hashimotos and Myasthenia gravis
Down syndrome malignancy ass
Acute lymphocytic leukemia
Blue sclera
Osteogenesis imperfecta
Type 1 collagen
Cl resistance
protozoan cryptosporiosis
Bile acid labile
Salmonella Typhi -
allows it to move through the gall bladder creating a carrier state
Ranson criteria
for mortality with pancreatitis - assessed 48hrs after admission for serium Ca level
<8mg/dl indicates poor prognosis.
Indirectly measures pancreatic necrosis
Prednisone withdrawal
Looks like adrenocortical insuff
HoTN
Hypoglycemia
Hyponatremai
Hyperkalemia
Kallman syndrome
failure of development of olfactory lobe
deficiency of GnRH
hypogonadism and anosmia
Pruritis after hot bath
polycythemia vera
Pear shaped flagellated protozoa
trichomonas vaginalis
Totipotent vs pluripotent
14 cell blastocyte - totipotent zygote
As the development of embryonic mesoderm, endoderm, and ectoderm commence blocks of dna are condensed and repressed - these are pluripotent like your stem cells.
REM sleep
Low voltage fast waves with a random series of low amplitude spikes
Incr Ach and decr NE
Beta waves - same as waking
Melanoma guideline
Asymmetrical
Borders(irregular)
Color (differing)
Diameter (>0.6 cm)
What does the celiac artery supply
Left gastric branch: distal esophagus, part of stomach
Splenic art: spleen and part of stomach
Hepatic Branch: stomach, duodenum, pancreas, liver, gallbladder.
Bitter almonds smell
Cyanide poisoning
Complex 4 - cytochrome C oxidase
1st trimester preeclampsia
Almost always hydatiform mole
Hormone responsible for thirst
Angiotensin 2
Thirst center is close to supraoptic nuc in the lateral preoptic area of the hypothal.
Accumulation of galactocerebroside
krabbe dz
galactsylceramidase
Disinfectants
Alcohol
Ethylene oxide
Phenol
sodium hypochlorite
UV light
ETOH and phenol good for cellular membranes. Good for enveloped viridae
Ethylene Oxide: sterilizing gas - good for fomites that can't be autoclaved
Sodium hypochlorite: good for naked capsid virus
UV light - only thing that kills mycobacteria
MI enzymes
LH, troponin, CK-MB, AST, neutrophilia
Troponin rises 1st within 8hrs
CK-MB first 24 hrs absolute level and MB frax imp - also specific
AST rises as CK-MB begins to fall
last to rise LH1 - good for 2-7 days
Neutrophilia last
HBV test first 2 wks of infection
HBsAg
Persistant Subacute illness in a farmer
Brucella Abortus
Target of dermatomyositis
Striated muscle
External intercostal vs Internal intercostal vs innermost intercosta
External and innermost Intercostal - elevate the ribs on inspiration
internal intercostal - depresses ribs on expiration (forced)
Prinzmetal angina - EKG
ST segment depression
symmetric T wave inversion
Fragile X -laboratory determination
Southern Blot - for FMR1 CGG repeat region
PCR
Hb carrying capacity
also / 100ml of blood
Each gram of Hb can carry 1.34 g O2. 100 ml of art blood can carry 20 ml
of O2 at a nl Hb concentration of aboug 15g/dl
Rose gardner dz
sporothrix schenkii - cigar shaped yeasts
Valley fever
inhalation of hte microconidia of coccidioides immitis
Aldolase B deficiency
Hereditary fructose intolerance.
AR
Vomiting, hypoglycemia, hyperuricemia, failure tt, hepatosplenomegaly, jaundice, renal fanconi syndrome.

Fuctokinase makes F1P then Aldolase B cleaves it into Glyceraldehyde and DHAP
Without aldolase B - phosphate in F1P is sequestered in liver.
Essential Fructosuria
Fructokinase deficiency
benign
Alpha synuclein
found in lewy bodies of parkinsons
Amyloid A4
beta amyloid of alzheimers dz
Kluver Bucy SYndrome
lesions in the amygdala
emotional behavioral changes, emotional blunting, hyperphagia, inappropriate sexual behavior, visual agnosia
Leading cause of death in black males 15-24
Black american 25-34
15-34 Homicide
25-34 accidental injury
Idiopathic Thrombocytopenia
antibodies to platelets and megakaryocytes
Sx of hypokalemia
weakness and HA
irreg cardiac rhythm and flattened or inverted T waves
Treatment for Myasthenia gravis
Neostigmine
Pyridostigmine
AchE inhibitors
Flank pain that radiates to the groin
kidney stone bitch
DR2
DR3
DR4
DR5
DR7
B8
HLA -B27
DR2: Goodpastures, allergy, MS, narcolepsy, SLE
DR3: DM1, celiac sprue, SLE
DR4: DM1, pemphigous vulgaris, RA,
DR5: Hashimotots, Juvenile RA, pernicious anemia
DR7: steroid responsive Nephrotic syndrome
B8: Graves, celiac
HLA-B27: psoriatis, anklyosing spondylitis, IBD, Reiters syndrome
X ray - circumscribed, rarefied area
Hx - swelling, pain, long bones
soft tiss extension, periosteal bulging and new bone formation
aneurysmal bone cyst
Boundaries of the anatomical snuff box
medially: extensor pollicis longus
laterally: extensor pollicis brevis + abductor pollicis longus
Floor: trapezius +scaphoid
Superficial branch of the radial nerve
radial art sits in there
Where do V1, V2, V3
exit
V1 - superior orbital fissure
V2 - foramen rotundum
V3 - foramen ovale (sensory and motor)
Thoracic duct =
provides lymph drainage to bilateral lower extremity and left arm.
Course: through diagphragmatic hiatus, ascending just to the right of midline and empties inot the central left internal jugular vein.
AA protein
reactive amyloidosis
derived from SAA protein from the liver
secondary type - ass with chronic inflammatory cndt - RA, TB, osteomyelitis, heroin abuse
AL amyloid
Ass with multiple myeloma, Bcell lymphomas.
Derived from Ig light chains
Danger with raw eggwhites
Eggwhite has Avidin which binds biotin
Biotin def - hair loss, dermatitis, enteritis.
Nonconjugative plasmids
Are not capable of mediating conjugation by themselves.
But when other conjugative plasmids exist in the cell, nonconjugative plasmids can be mobilized across the preformed conjugal bridge.

This is how neisseria transfers resistance genes oriT locus
Conjugative transfer
Major mechanims of drug resistance used by GN baccili.

A resistance transfer factor is a fertility plasmid -which has required drug resistance genes.
Site specific recombination
is the mechanism by which circular DNA (plasmid, transposon, temperate phage) can be incorporated into the DNA of a host cell Cr. It is not a mechanism of transferring DNA from one cell to another but simply a mechanism of stabilizing DNA molecules within a cell
Transduction
transferring DNA from one bug to another - using a viral vector
Transformation
uptake and incorporation of free DNA and dead and dying cells into new cells. Incorporated via homologous recombination.
Sturge Weber
Port wine stain if near trigeminal area is Sturge Weber.
Vascular malformations involved the ipsilateral leptomeninges and cerebral Cortex. Seizures, glaucoma, hemiplegia, MR ,cerebral calcifications, subdural hemorrhage
Facial angiofibromas
Tuberous sclerosis
Shagreen Patches
Tuberous sclerosis
Tuberous sclerosis sx
retinal hamartomas
facial angiofibromas
cortical tubers
shagreen patches
Pyogenic granuloma
bright red nodule of small vessels separated by fibrous stroma
from mechanical injury
benign
Alopecia areata

Alopecia mucinosa
chronic AI hair loss - localized or generalized

Follicular papules and or indurated plaques that demonstrate distinct histological changes in the hair follicles leading to hair loss
aromatic amine exposure - aniline
transitional cell carcinoma
Migratory thrombophlebitis
Trousseau sign
internal malignancy
most notably Pancreatic
crescentic rapidly progressive glomerulnephrits
Goodpastures
site of biopsy for celiac dz
likes the proximal intestine - jejunum
Henderson hasselbach
pH=6.1 + log [bicarb] / 0.03[PCO2]
Hardy weinberg eqn
1 = q^2 + 2pq + p^2

1= p + q
Anti-glutamic acid decarboxyase antibodies
DM1
they are anti islet cell abs
What is the human equivalent of the HIV reverse transcriptase?
Telomerase
bc it is an RNA dep DNA pol - require for syntehsizing stretches of DNA at end of Cr.
CD14
M/P endotoxin receptor - leads to TNFalhpa rls.
2 causes of sterile pyuria
TB and Chlamydia
#1 cause of bladder cancer
smoking
epididymitis under 35 and older than 35
under 35 - N. Gonorrhea, Chlamydia
over 35 - pseudomonas, e. coli
What would happen if you block left renal vein in gonads
left sided varicoceal
common cause of infertility
Loss of cremasteric reflex
loss in testicular torsion
young male
Unilateral gynecomastia and dyspnea - CXR with multiple nodular masses
choriocarcinoma of the testicle
beta HCG is acting like LH and is stimulating PR in male increasing breast growth
mets from testicular cancer
paraarotic LN
Older male with testicular cancer
malignant lymphoma
(mets)
Difference btw
ovarian origin and adrenal origin virilization
ovarian origin much more common - test for testosteron
adrenal origin you test for DHEA
causes of dysmenorrhea
primary
secondary
painful menses
Most common 1' cause -too much PGF (incr contraction of uterus)
Most common 2' cause endometriosis
dysfx uterine bleeding
Due to hormonal prob not stxl
1. anovulatory cycles (0-20 most common cause) persistent ER stim without enough PR stim. Hyperplasia and buildup and it sloughs.
amenorrhea
primary
secondary
Hypothal-pit axis: low fsh and LH
Ovarian prob: High FSH and LH
Anatomical: Nl FSH and LH ashermann syndrome -2'
1' turners syndrom
epidemiology F cancers
Cervical
Endometrial
ovarian
cancers
cervical - <45
Endometrial >55
Ovarian >65
sertoli leydig cells tumr in females
secrete androgens
virilization
granulosa cell tumor in female
precocious pubery due to ER prodcution
recurrent laryngeal nerve
Left recurrent laryngeal nerve goes around the arch of aorta
right recurrent goes around the bifurcation of the common carotid and subclavian
I cell dz
failure of addition of mannose - 6 phosphate to lysosomal proteins causing these enzymes to be secr outside of the cell instead of targeted to the lysozymes.
Coarse facial features
Restricted limb mvmt
Tea colored urine
Porphyria cutanea tarda -
deficiency of uroporphringoen decarboxylase
Uroporphryin accum in urine - giving it tea color
Photosensitivity
Pink, poly neuropathy, precipated by drugs, psychological distubance
heme synthesis
NF1 vs NF2
sx
genes
NF1: cafe au lait, lisch nodules, scoliosis, pheochromocytoma, incr tumors
Cr 17
NF2 Cr22
bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts
BOTH AD
Tuberous sclerosis
AD, incom penetrance
Cardiac Rhabdomyomas
Facial adenoma sebaceum
hypopigmented ash-leaf spots
cortical and retinal hamartomas
sz, MR, renal cysts
vHL
AD, Cr3 - tumor supressor deletion
hemangioblastomas of retina, cerebellum, medulla,
bilateral renal carcinoma and other tuma
FAP
deletion on Cr 5
AD
tons of polyps
Huntington gene
Cr 4
AD
caudate atrophy
decr levels of GABA and Ach in brain
Fragile X
Xlinked - defect affecting the methylation and expression of the FMR1 gene
Triplet repeat dz - anticipation

large jaw, testes, ear
Schilling test
Test for B12 deficiency
Rate limiting Rxn
FA synthesis
Beta oxidation
Gluconeogenesis
Glycogen synth
glycogenolysis
FA synthesis: acetyl CoA carboxylase
Beta oxid: Carnitine Acyl Transferase
Gluconeogenesis: Fructose 1,6 Bisphosphatase
Glycogen synth: glycogen synthase
Glycogenolysis: liver phosphorylase
Rate Limiting Rxn
PPP or HMP
Lipolysis
Urea Cycle
Pyrimidine metbol
Purine metabol
HMP: G6PDH
Lipolysis: HSL
Urea: Carbamoyl Phosphate synthetase I
Pyrimadine Metabol: Carbamoyl Phosphate Synthetase II
Purine: Glutamine -PRPP amidotransferase
Rate limiting RXn
Heme synth
Ketone body synth
Heme: dALA synthetase
Ketone body: HMG-CoA synthase
Acetoacetyl-CoA to HMG-CoA
HMG-CoA then splits to form acetoacetate and acetyl CoA
Ataxia Telangiectasia
Tumor Suppressor
telangiectasias of skin and eyes, variable immunodeficiency and progressive ataxia.
Wheel chairs by adolescence
11q22 gene - codes for DNA dep protein kinase - localized to the nuc. Its fx it mitogenic signal transduction, meiotic recombination, cell cycle control.
These ppl have incr sensitivity to ionizing radiation, defective DNA repair, freq chromosomal abnl. High incidence of malignancy - esp lymphoma/leukemia.
excision endonuclease - is defective in which dz
xeroderma pigmentosum
Mcune Albright syndrome
polyostotic fibrous dysplasia
GNAS1 which is involved in G-protein signalling. This mutation, often a mosaicism, prevents downregulation of cAMP signalling.
* (autonomous) endocrine hyperfunction such as precocious puberty
* Fibrous dysplasia
* Café-au-lait spots

Within the syndrome there are bone fractures and deformity of the legs, arms and skull, different pigment patches on the skin, and early puberty with increased rate of growth.
mRNA presplice - intron ends
5' and 3'
3' end of a eukaryotic intron contains a splice acceptor site - with an invariant AG just before the end of the intron. Highly conserved - essential for recognizing and splicing out the intervening seq, form the nascent RNA prior to export out of nuc.
At 5' end the intron is an important GT (GU in RNA) seq that is also a splice doner site.
HNPCC genetic
Microsatellite instability repeat in tumor cells
Areas of DNA with dinucleotide repeates - often ass with strand slippage during DNA replication can change the number of repeats on the newly synth strand (microsatellite instability
prob in mismatch repair enzymes