Circadian rhythm

Driven by suprachiasmatic nucleus (SCN) of hvpothalamus; controls ACTI I. profit tin.

melatonin, iioctmnal NE release. SCN —* NF release —» pineal gland —> melatonin.
SCN is regulated by environment (i.e., light).

KARYOTYPING
A process in which metaphase chromosomes are stained, ordered, antl numberetl
according lo morphology-, size, ami-length ratio, and banding patleni. Can be
performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.
Used to diagnose chromosomal imbalances (e.g., autosomal trisomies, microtlclelious,
sex chromosome tlisortlcrs).

WILLIAMS SYNDROME
Congenital microcleletion of long arm of dimtnosoine 7 (deleted region inclucles
elastin gene). Findings: distinctive "elfin" fades, mental tetarclalion. hypercalcemia (T sensilivilv
to vilamin D), well-developed verbal skills, extreme liiendliness wilh strangers,
cardiovascular problems.

Important genes of embryogenesis

Sonic hedgehog gene Produced at base of limbs in zone of polarizing activity. Involved in patterning
along
anterior-posterior axis.
Wnt-7 gene Produced at apical ectodermal ridge (thickened ectoderm at distal end of each
developing limb). Necessary for proper organization along dorsal-venlral axis.
FCF gene Produced al apical ectodermal ridge. Stimulates mitosis of underlying mesoderm.
providing for lengthening ot limbs.
Homeobox gene Involved in segmental organization.

Splitting
Nonnal splitting—inspiration leads lo drop in inlralhoraeic pressure, whieh T capacilv
of pulmonary circulation. Pulmonic valve closes later lo accommodate more blood
cnlcring lungs; aortic valve doses earlier because of J. return lo left hearl.
Wide splilliug—seen in coudilious that delay HVemplyiiig (pulmonic slenosis, righl
bundle bianeli block). Delay in KV emplying causes delayed pulmonic sound
(regardless of brcalh). An exaggcralion of normal splilliug.
Fixed splitting—seen in ASD. ASD leads to left-to-right shunt and therefore T flow
through pulmonic valve such that regardless of breath, pulmonic closure is greally
delayed.
Paradoxical splilliug—seen in conditions that delay I,Vemptying (aortic stenosis, lefl
bundle branch block). Normal order of valve closure is reversed so lhal l'2 sound
ocems before delayed A2 sound. Therefure on inspiralion, the later P2 and earlier
A2 sounds move closer lo one anolher, "paradoxically" eliminating llie split.

Astrocytes
Phvsical support, repair, K+
metabolism, removal of excess neurotransmiller.
maintenance of blood-brain barrier. Reactive gliosis in response lo injury. Astrocyte
marker—CLAP.

Strabismus vs. amblyopia

Strabismus Misaligumenl of eyes, Mulliple etiologies.
Amblyopia Reduction of vision from disuse in critical perioti. May he 2° lo strabismus, deprivation,
unequal refractive errors.

Headache
Pain due to irritation of slructures such as dura, cranial nerves, or extract anial
slruclures, nol brain parenchyma itself.
Migraine —mi i latcral; 4-72 hours of pulsating pain with nausea, photophobia, in
phonophobia, +/- "aura" of neurologic- symptoms hefore headache, including
visual, senson. speech disturbances. Due lu irritation of CN V and release of
substance P. CGRP. vasoactive peptides. Treatmeul: propranolol; NSAIDs;
sumatriptan for acute migraines.
'Icnsion headache—bilateral; > ^0 minutes of steady pain. Nol aggravaled by light or
noise; no aura.
Cluster headache —unilateral; repetitive brief headaches characterized by periorbital
pain associated with ipsilatcral laerimalion, rhinorrhea. Horner's svndrome. Much
more common in males. Treahnenl: sunialriptan.
Other causes of headache include subarachnoid hemorrhage ("worst headache ol lite ").
meningitis, hydrocephalus, neoplasia, arteritis.

Butorphanol
Mechanism Partial agonist at opioid mu receplors, agonist at kappa receptors.
Clinical use Pain; causes less respiratory depression than full agonists.
Toxicitv Causes withdrawal if on full opioid agonist.
Tramadol
Mechanism Very weak opioid agonist; also inhibits serulunin and NF reuptake (works on multiple
neurolransmitlers—"tram it all" in).
Clinical use Chronic pain.
Toxicitv Similar to opioids. Decreases seizure threshold.