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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 patterningalong

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 splittinginspiration 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 splilliugseen in coudilious that delay HVemplyiiig (pulmonic slenosis, righl

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bundle bianeli block). Delay in KV emplying causes delayed pulmonic sound

(regardless of brcalh). An exaggcralion of normal splilliug.

Fixed splittingseen 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 splilliugseen 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

markerCLAP.

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 headachebilateral; > ^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.

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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.

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