Rapid Review Flashcards
Abdominal pain, diarrhea, leukocytosis, recent abx (clindamycin)
Clostridium difficile infection
Achilles’ tendon xanthoma; accelerated atherosclerosis (MI before age 20)
Familial hypercholesterolemia IIa - absent/defective LDL receptors; increased cholesterol levels
Increased chylomicrons and triglycerides in blood; pancreatitis; NO increased risk for atherosclerosis; “creamy” layer in supernatant
Hyperchylomicronemia (I) - lipoprotein lipase deficiency or ApoC2 deficiency (cofactor for LPL)
hypertriglyceridemia >1000 mg/dL; acute pancreatitis
Hypertriglyceridemia (IV) - hepatic overproduction of VLDL
adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete w/ polycythemia (inc EPO and inc RBC mass)
secondary to erythropoietin injection
bilateral acoustic schwannomas; juvenile cataracts; meningiomas; ependymomas
neurofibromatosis type 2 - NF2 gene on chromosome 22
cafe-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules (pigmented iris hamartomas)
Neurofibromatosis type 1 - Von Recklinghausen disease (NF1 gene on chromosome 17)
bilateral hilar adenopathy, uveitis
Sarcoidosis
black eschar on face of pt w/ DKA
Mucor or Rhizopus fungal infection
Blue line on gingiva
Burton line - lead poisoning
bone pain, bone enlargement, arthritis
Paget disease of bone (increased osteoblastic & osteoclastic activity)
bounding pulses, diastolic heart murmur, head bobbing
aortic regurg
cafe-au-lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
cervical LAD, desquamating rash, coronary aneurysms, red conjunctiva, strawberry tongue
Kawasaki disease - treat w/ IVIG and aspirin
Cherry-red spot on macula
Tay-Sachs (ganglioside accumulation)
Niemann - Pick (sphingomyelin accumulation)
Central retinal artery occulusion
chest pain, pericardial effusion/friction rub, persistent fever post-MI
Dressler syndrome - autoimmune mediated post-MI fibrinous pericarditis
2-12 wks after acute MI
child with fever later develops red rash (slapped cheeks) on face that then spreads to body
parvovirus B19
chorea, dementia, caudate degeneration
Huntington disease (AD “CAG” repeat expansion)
chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis (ToRCHES)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease - skeletal muscle glycogen phosphorylase deficiency
conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF)
continuous machine-like murmur
PDA - close w/ indomethacin; keep open w/PGE analog
cutaneous/dermal edema due to connective tissue deposition
Myxedema due to hypothyroidism, Graves disease (pre-tibial)
cutaneous flushing, diarrhea, brochspasm
carcinoid syndrome (right sided cardiac valve lesions, inc 5-HIAA)
dermatitis, dementia, diarrhea
Pellagra (niacin/B3 deficiency)
dilated cardiomyopathy, edema, alcoholism/malnutrition
Wet BeriBeri (thiamine/B1 deficiency)
dry eyes, dry mouth, arthritis
Sjogren - autoimmune destruction of exocrine glands
dysphagia (esophogeal web), glossitis, iron deficiency anemia
Plummer Vinson syndrome - may progress to esophageal squamous cell carcinoma
elastic skin, hypermobile joints, increased bleeding tendency
Ehlers-Danlos syndrome - type IV collagen defect
Type III collagen defect in vascular subtype
episodic vertigo, tinnitus, sensorineural hearing loss
Meniere disease (increased endolymph leading to distention of endolymphatic system and damage to vestibular and cochlear components)
erythroderma, LAD, HSM, atypical CD4+ T-cells (skin and/or blood)
mycosis fungoides or Sezary syndrome
facial muscle spasm upon tapping
Chvostek sign - hypocalcemia
fat, female, fertile, forty
Cholelithiasis (gallstones)
fever, cough, conjunctivitis, coryza, Koplik spots followed by maculopapular rash that starts at head and spreads downward
Measles
golden-brown rings around peripheral cornea
Kayser-Fleischer rings - accumulation of Copper - Wilson Disease
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-Nyhan syndrome - HGPRT deficiency (XR)
hamaratomatous GI polyps, hyper-pigmentation of mouth/feet/hands/genitals
Peutz-Jeghars syndrome - inherited, benign polyposis that can cause bowel obstruction; inc. GI cancer risk
HSM, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease (glucocerebrosidase deficiency)
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygala lesion)
posthepatic venous thrombosis
Abdominal pain, ascites, hepatomegaly
Budd - Chiari Syndrome
hypoxemia, polycythemia, hypercapnia, “blue bloater”
chronic bronchitis: hyperplasia of mucous cells
indurated, ulcerated genital lesion
Painless -> chancre due to primary syphilis
Painful w/ exudate -> chancroid due to H ducreyi
infant w/ cherry-red spot on macula, HSM, neurodegeneration
Neimann-Pick (sphingomyelinase deficiency)
infant with cleft-lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Trisomy 13 (Patau)
Infant with hypoglycemia and hepatomegaly
Cori disease - debranching enzyme deficiency
Von Gierke disease - glucose -6-phosphatase deficiency
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (Trisomy 18)
jaundice, palpable distended non-tender gallbladder
Courvoisier sign - distal obstruction of biliary tree
male child, recurrent infections (bacterial, enteroviral, giardia), no mature B-cells
Bruton disease - X-linked agammaglobinemia (defective BTK tyrosine kinase)
mucosal bleeding and prolonged bleeding time
defective platelet aggregation due to lack of GpIIb/IIIa - Glanzmann thrombasthenia
multiple colon polyps, osteomas/soft-tissue tumors, impacted/supernumerary teeth
Gardner syndrome (FAP)
muffled heart sounds, distended neck veins, hypotension
cardiac tamponade
myopathy (infantile hypertrophic cardiomyopathy) and exercise intolerance
Pompe disease due to lysosomal alpha-1,4-glucosidase deficiency
neonate w/ arm paralysis following difficult birth
Erb-palsy (waiter’s tip) - traction/tear of upper roots (C5-C6)
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome - pituitary infaction
nystagmus, intention tremor, scanning speech, bilateral INO
multiple sclerosis
painful raised red lesions on pads of fingers/toes
Osler nodes - infectious endocarditis or immune complex deposition
painless erythematous lesions on palms and soles
Janeway lesions - infectious endocarditis, septic emboli/microabcesses
Palpable purpura on butt/legs, joint pain, abdominal pain (child) hematuria
Henoch-Schonlein purpura - IgA vasculitis affecting skin and kidneys
Pancreatic, pituitary, parathyroid tumors
MEN1 (AD)
Dyspnea, hyperventilation, “pink puffer”
Emphysema: centriacinar - smoking; panacinar - alpha1-antitrypsin deficiency
Polyuria, renal tubular acidosis, growth failure, electrolyte imbalance, hypophosphatemic rickets
Fanconi syndrome - multiple combined dysfunctions of the proximal convoluted tubule
Pruritic, purple, polygnal, planar papules and plaques
Lichen Planus
Ptosis, miosis, anhidrosis
Horner (sympathetic chain lesion)
Pupil accommodates but does not react
Neurosyphilis - Argyll Robertson pupil
rapidly progressing limb weakness that ascends following GI/UR infection
Guillain-Barre - acute inflammatory demyelinating polyradiculopathy
rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome
red “current jelly” stools
Acute mesenteric ischemia (adults)
Intussusception (children)
red, itchy, swollen rash of nipple/areola
Paget disease of the breast - underlying malignancy
red urine in the morning and fragile RBCs
paroxysmal nocturnal hemoglobinuria (absent DAF/GPI) - RBC destruction by complement
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau (tumor suppressor gene mutation)
retinal hemorrhages with pale centers
Roth spots - bacterial endocarditis
short stature, cafe-au-lait spots, thumb/radial defects, increased tumors/leukemias, aplastic anemia
Fanconi anemia - genetic loss of DNA crosslink repair; often progresses to AML
Situs inversus, chronic sinusitis, bronchiectasis, infertility (male)
Kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (Addison disease) - increase ACTH and increase alpha-MSH production
streak ovaries, congenital heart disease, horseshoe kidney, cyctic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome - 45XO
Swollen gums, mucosal bleeding, poor wound healing, petechia
Scurvy - Vitamin C deficiency - can’t hydroxylate proline/lysine for collagen synthesis
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
thyroid tumors, parathyroid tumors, pheochromocytoma
MEN2A (AD Ret mutation)
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B - AD Ret mutation
Unilateral facial drooping involving the forehead
LMN CNVII palsy (UMN spares forehead)
urethritis, conjunctivitis, arthritis in male
reactive arthritis (HLA-B27)
Vascular birthmark - “port wine stain” on face
nevus flammeus (benign but assoc w/ Sturge-Weber syndrome)
Sporatic port-wine stain, tram-track calcifications, ipsilateral leptomenigeal angioma, intellectual disability, early onset glaucoma, epilepsy
Sturge-Weber Syndrome - GNAQ activating mutation affecting small blood vessels
anticentromere antibodies
Scleroderma (CREST)
Anti-GBM antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis)
Antihistone antibodies
Drug induced SLE (hydralazine, isoniazid, phenytoin, procainamide)
Anti IgG antibodies
Rheumatoid arthritis
Antimitochondrial antibodies
Primary biliary cirrhosis
P-ANCA
microscopic polyangiitis and Churg-Strauss
C-ANCA
Wegener
Antinuclear antibodies (Anti-smith and anti-dsDNA)
SLE (type III hypersensitivity)
anti-platelet antibodies
Idiopathic thrombocytopenic purpura
anti-topoisomerase antibodies
diffuse systemic scleroderma
Basophilic stippling on RBCs
sideroblastic anemia or Lead poisoning
hypertension, hypokalemia, metabolic alkalosis
Conn syndrome - primary hyperaldosteronism
Arnold-Chiari malformation
herniation of cerebellar tonsils and vermis through foramen magnum w/ aqueductal stenosis and hydrocephalus
posterior fossa malformation
Dandy-Walker malformation
agenesis of cerebellar vermis with cystic enlargement of the 4th ventricle (fills the enlarged posterior fossa)
associated w/ spina bifida and hydrocephalus
syringomyelia
cystic cavity w/in spinal cord
anterior commissure white fibers damaged first - “cape-like” bilateral loss of pain and temperature sensation in upper extremities (ususally C8-T1)
Taste sensation - tongue
CN VII (facial) - anterior 2/3 CN IX (glossopharyngeal) - posterior 1/3 CN X (vagus) - epiglottis
Pain Sensation - tongue
CN V3 (trigeminal) - anterior 2/3 CN IX (glossopharyngeal) - posterior 1/3
Motor innervation - tongue
CN X (vagus) - palatoglossus - elevates posterior tongue during swallowing
CN XII (hypoglossal) - hyoglossus (retracts/depresses), genioglossus (protrudes), styloglossus (trough for swallowing)
norepinephrine - change in disease
increased in anxiety, decreased in depression
norepinephrine - location of synthesis
locus ceruleus (pons)
dopamine - tuberoinfundibular pathway
connects hypothalamus and pituitary; dopamine dependent tonic inhibition of prolactin
Dopamine - change in disease
increased in Huntington
Decreased in Parkinson and depression
5-HT - change in disease
serotonin
decreased in anxiety, decreased in depression
5-HT - location of synthesis
Raphe nuclei - pons, medulla, midbrain
Acetylcholine - change in disease
increased in Parkinson
decreased in Alzheimer, Huntington
Acetylcholine - location of synthesis
basal nucleus of Meynert
GABA - change in disease
decreased in anxiety
decreased in Huntington
GABA - location of synthesis
nucleus accumbens
Mesolimbic-Mesocortical dopaminergic pathway
regulates behavior; hyperactive in schizophrenia
nigrostriatal domaminergic pathway
coordination of voluntary movement; decreased in Parkinson
Hypothalamus - roles
“TAN HATS”
Thirst and water balance, adenohypophysis control, neurohypophysis releases hypothalamic hormones, hunger, autonomic regulation, temperature regulation, sexual urges
hypothalamic inputs
OVLT - senses change in osmolarity
Area postrema -responds to emetics
Site of ADH production
supraoptic nucleus (hypothalamus)
site of oxytocin production
paraventricular nucleus (hypothalamus)
Lateral area of hypothalamus
hunger
destruction leads to anorexia, failure to thrive
inhibited by leptin
ventromedial area of hypothalamus
satiety - stimulated by leptin
destruction (via craniopharyngioma) leads to hyperphagia
anterior hypothalamus
cooling (parasympathetic)
posterior hypothalamus
heating (sympathetic)
suprachiasmatic nucleus of hypothalamus
circadian rhythm - releases norepinephrine which acts on pineal gland - releases melatonin
Awake/eyes open - EEG waveform
Beta (highest frequency, lowest amplitude)
Awake/eyes closed - EEG waveform
Alpha
Non-REM - stage N1 EEG wave form
Theta
Light sleep
Non-REM N2 sleep stage - EEG waveform
deeper sleep (bruxism) Sleep spindles and K complexes
Non-REM N3 sleep stage - EEG waveform
deepest non-REM sleep - sleepwalking, night terrors, bedwetting
Delta (lowest frequency, highest amplitude)
REM sleep - EEG waveform
loss of motor tone, increased brain O2 use, increased/variable pulse/BP; dreaming and penile/clitoral tumescence; memory processing function
Beta
VPL nucleus of thalamus
pain, temp, pressure, touch, vibration, proprioception
input - spinothalamic tract and DC/ML
output - primary somatosensory cortex
VPM nucleus of thalamus
face sensation, taste
input: trigeminal and gustatory pathway
output: primary somatosensory cortex
LGN nucleus of thalamus
Vision
input: CN II
output: calcarine sulcus
MGN nucleus of thalamus
Hearing
input: superior olive and inferior colliculus of tectum
output: auditory cortex (temporal lobe)
VL nucleus of thalamus
motor
input: basal ganglia, cerebellum
output: Motor cortex
Limbic system
hippocampus, amygdala, fornix, mammillary bodies, cingulate gyrus
“Feeding, fleeing, fighting, feeling, sex”
MCA stroke
motor cortex - contralateral paralysis of upper limb and face
sensory cortex - contralateral loss of sensation in upper limb and face
temporal lobe (Wernicke) - aphasia if dominant; hemineglect if non-dominant
frontal lobe (Broca) - aphasia if dominant; hemineglect if non-dominant
ACA stroke
Motor cortex - contralateral lower limb paralysis
Sensory cortex - contralateral lower limb loss of sensation
Lenticulostriate artery stroke
striatum/internal capsule - contralateral hemiparesis/hemiplegia
*Lacunar infarct secondary to HTN
ASA stroke
lateral corticospinal tract - contralateral hemiparesis in upper & lower limbs
medial lemniscus - decreased contralateral proprioception
caudal medulla - ipsilateral hypoglossal dysfunction (deviates ipsilaterally)
PICA stroke
Lateral medulla
vomiting, nystagmus (vestibular nuclei)
decreased pain and temp sensation from ipsilateral face (spinal trigem nucl) and contralateral body (lateral spinothalamic tracts)
dysphagia and hoarseness and decreased gag reflex (nucl ambiguus)
ipsilateral Horner (sympathetics)
ataxia and dysmetria (inferior cerebellar peduncle)
AICA stroke
Lateral pons (vestibular nuclei, facial nucleus, spinal trigeminal nucleus, cochlear nuclei, sympathetics); Middle and inferior cerebellar peduncles
Vomiting, vertigo, nystagmus, paralysis of face, decreased lacrimation/salivation, decreased taste from anterior 2/3 of tongue, decreased pain and temperature of ipsilateral face and contralateral body, ataxia, dysmetria
PCA stroke
occipital cortex and visual cortex - contralateral hemianopia with macular sparing
Basilar artery
Locked in syndrome
preserved consciousness and blinking w/ quadraplegia, loss of voluntary facial, mouth, and tongue movements
AComm stroke
more commonly aneurysm - visual field defects due to impingement of cranial nerves
PComm aneurysm
CN III palsy - eye is “down and out” with ptosis and mydriasis
urinary incontinence, ataxia, cognitive dysfunction in elderly person
“wet, wobbly, wacky” = normal pressure hydrocephalus
Amyotrophic lateral sclerosis - lesion sites
anterior motor horn (LMN)
lateral corticospinal tract (UMN)
Amyotrophic lateral sclerosis - symptoms
combined UMN and LMN with no sensory or oculomotor deficit; onset in middle age
Amyotrophic lateral sclerosis - familial mutation
Superoxide dismutase 1 mutation - free radical injury in neurons
Tabes dorsalis
tertiary syphilis - degeneration of dorsal columns and roots
impaired sensation and proprioception, progressive sensory ataxia
absence of DTRs and +Romberg sign
Vitamin B12 deficiency (cobalamin)
subacute combined degeneration - demyelination of DC, lateral corticospinal tracts and spinocerebellar tracts
ataxic gait, paresthesia, impaired position and vibration sense
Poliomyelitis - causes
poliovirus (fecal-oral) - replicates in oropharynx and small intestine. spreads to CNS via bloodstream. infection destroys anterior motor horn (LMN death)
Poliomyelitis - symptoms
LMN lesions + infection (fever, malaise, headache, etc)
poliomyelitis - clinical findings
CFS with increased WBCs and slight increase in protein (no increase in glucose)
virus can be recovered from stool or throat
spinal muscular atrophy (Werdnig-Hoffman disease)
congenital degeneration of anterior horns of spinal cord - LMN lesions
“floppy baby” w/ hypotonia and tongue fasciculations (median death ~7 mo)
Autosomal recessive
frataxin
regulates mitochondrial iron - mutation leads to loss of regulation and increased iron with free radical damage
GAA repeat - Friedreich Ataxia
staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy, kyphoscoliosis
Friedriech Ataxia - GAA repeat in frataxin gene on chromosome 9
degeneration of spinocerebellar tracts (ataxia)
degeneration of DC and DRG (loss of position sense and vibration)
Biceps reflex
C5,C6
“pick up sticks”
Achilles reflex
S1, S2
“buckle my shoe”
Patellar reflex
L3, L4
“kick the door”
triceps reflex
C7, C8
“lay them straight”
cremaster reflex
L1, L2
“testicles move”
anal wink reflex
S3, S4
“winks galore”
structures through the optic canal
CN II (optic), ophthalmic artery, central retinal vein
structures through superior orbital fissure
CN III (oculomotor) CN IV (trochlear) CN V1 (trigeminal - ophthalmic nerve) CN VI (abducens) ophthalmic vein sympathetic fibers
Structures through foramen rotundum
CN V2 - maxillary nerve
structures through foramen ovale
CN V3 - mandibular nerve
structures through the foramen spinosum
middle meningeal artery (branch of maxillary artery)
Structures through the jugular foramen
CN IX (glossopharyngeal) CN X (vagus) CN XI (accessory) jugular vein
structures through foramen magnum
spinal roots of CN XI (accessory)
brain stem
vertebral arteries
low frequency hearing
at the apex of the basilar membrane near helicotrema (wide and flexible)
high frequency hearing
at the base of cochlea (thin and rigid)
noise-induced hearing loss
damage to stereociliated cells in organ of Corti - loss of high frequency hearing first
Hyperacusis
due to CNVII injury leading to paralysis of stapedius
Hyperopia
eye too short for refractive power of cornea and lens - light focused behind the retina
(farsightedness)
Myopia
eye too long for refractive power of lens and cornea - light focused in front of retina
(nearsightedness)
presbyopia
age-related impaired accommodation (focusing on near objects)
necessitates reading glasses
deposition of yellowish extracellular material (drusen) with gradual decrease in vision and scotomas
Dry macular degeneration due to chronic oxidative damage
prevent progression with multivitamin and antioxidant supplements
rapid loss of vision (scotomas), grey-green subretinal discoloration with adjacent fluid/hemorrage
Wet macular degeneration - secondary to choroidal neovascularization
treat with anti-VEGF
decreased bilateral pupillary constriction when flashlight is shone in affected eye relative to unaffected eye (swinging flashlight test)
afferent pupillary defect - Marcus Gunn pupil due to optic nerve damage or severe retinal injury
one sided anopia
optic nerve lesion
homonymous hemianopia
optic tract lesion
upper quadrant anopia
Meyer loop lesion (temporal lobe)
MCA (temporal lobe)
lower quadrant anopia
dorsal optic radiation lesion (parietal lobe) MCA stroke (parietal lobe)
hemianopia with macular sparing
PCA infarct
conjugate gaze palsy with nystagmus
INO (MLF lesion)
nystagmus in “good eye”
opioid analgesics - MoA
agonists at opioid receptors
decrease synaptic transmission - open potassium channels, close calcium channels
inhibit release of ACh, NE, 5-HT, glutamate, substance P
Butorphanol - MoA
kappa-opioid receptor agonist and mu-opioid receptor partial agonist - produces analgesia
Butorphanol - clinical use
pain (migraine, labor)
less respiratory depression than full opioid agonists
Butorphanol - toxicity
opioid withdrawal symptoms if pt is taking full opioid agonist b/c competition for opioid receptors
not easily reversed w/ naloxone
tramadol - MoA
very weak opioid agonist, inhibits 5-HT and NE reuptake
Tramadol - clinical use
chronic pain
tramadol - toxicity
similar to opioids
decreases seizure threshold
serotonin syndrome
ethosuximide - MoA
blocks thalamic T-type calcium channels
ethosuximide - clinical use
absence seizures
ethosuximide - toxicity
GI, fatigue, headache, urticaria, Stevens-Johnson syndrome
Benzodiazepines (seizure) - MoA
diazepam/lorazepam
increase GABAa action (potentiate)
Benzodiazepines (seizure) - clinical use
first line for acute status epilepticus
also use for eclampsia seizures
Benzodiazepines (seizure) - toxicity
sedation, tolerance, dependance, respiratory depression
Phenytoin - MoA
increases sodium channel inactivation (zero order kinetics)
Phenytoin - clinical use
Simple, Complex, Tonic-clonic
prophylaxis for status epilepticus
Phenytoin - toxicity
**CYP450 inducer; SLE-like syndrome; Stevens-Johnson syndrome; teratogenic
nystagmus, diplopia, ataxia, sedation, gingival hyperplasia, hirsutism, peripheral neuropathy, megaloblastic anemia, LAD, osteopenia
carbamazepine - MoA
increases sodium channel inactivation
carbamazepine - clinical use
simple, complex, tonic-clonic seizures
trigeminal neuralgia
carbamazepine - toxicity
Blood dyscrasia (agranulocytosis, aplastic anemia) liver toxicity Stevens-Johnson Inducer of CYP450 teratogenic SIADH diplopia
Valproic acid - MoA
increases sodium channel inactivation
increases GABA concentration by inhibiting GABA transaminase
sonic hedgehog gene
patterning along anterior-posterior axis; CNS development (mutation - holoprosencephaly)
wnt-7 gene
organization along dorsal-ventral axis
FGF gene
stimulates mitosis of mesoderm - lengthening of limbs
Hox (homeobox) genes
segmental organization in craniocaudal direction
codes for transcription factors
Hox mutations - appendages in wrong locations