Latest Update 2025 Questions And Verified Answers,
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AAT deficiency - answerAlpha1 antitrypsin deficiency--AAT binds to neutrophil
elastase to prevent inflammatory damage to lung tissue. Mutant AAT accumulates
in liver. Autosomal recessive disorder. Accelerates emphysema in smokers/lung
irritants.
Achondroplasia - answerA form of human dwarfism caused by a single dominant
allele; the homozygous condition is lethal
Albright syndrome - answerCharacterized by endocrine abnormalities,
precocious puberty in females, stunting or deformity of skeletal growth in both
sexes as a result of premature closing of the epiphyseal plates, café au lait spots
Allen test - answerdetermining the patency of the radial and ulnar arteries by
compressing one artery site and observing return of skin color as evidence of
patency of the other artery
Alport syndrome - answerX-linked defect in Type IV collagen. Results in
thinning/splitting of basement membrane. Clinical symptoms are: Isolated
hematuria, sensory hearing loss and ocular disturbances.
,amniocentesis - answerneedle puncture of the amniotic sac to withdraw amniotic
fluid for analysis, rec'd for >35 yo or other suspicion, 15-18wks gest
Angelman Syndrome - answerA maternal chromosome 15 deletion syndrome
(paternal copy imprinted) with intellectual disability, seizures, and ataxia
Astrocytes - answerProvide structural and metabolic support for neurons,
probably form the blood brain barrier
atypical antipsychotics - answerBlock D1-D5, serotonin, norepinephrine,
histamine, cholinergic receptors.
Avulsed tooth - answerPut in cool milk
Barr bodies - answermostly inactivated X chromosomes, usually all but one (so
none in XY, one in XX, two in XXX); coin flip cell by cell. 15% genes still active
Beckwith-Wiedemann syndrome - answerEither paternal disomy or failure to
imprint a region on short arm of chromosome 11 causes IGF2 overproduction
causes overgrowth
,Beta Thalassemia - answerDisease in which insufficient beta-globin chains are
produced and there is an excess of alpha chains, Mediterranean, hypochromic,
microcytic
Blount's disease - answerGrowth disorder of the tibia that causes the lower leg to
angle inward, refer to ortho
Bruton's agammaglobulinemia - answerXR condition where pre-B cells cannot
differentiate into B cells -> susceptible to SHiN infections
cerebellar vermis - answerthe portion of the cerebellum, located within the
midline of the brain, that connects its two hemispheres; truncal ataxia and
dysarthria when damaged
chalazion - answerInflamed meibomian (eye sweat) gland, I&D if large
Chancroid - answerHaemophilus ducreyi
cheilosis - answerCracks in the corners of the mouth, from drool (dentures, paci)
Cheyne-Stokes respiration - answerpattern of breathing characterized by a
gradual increase of depth and sometimes rate to a maximum level, followed by a
decrease, resulting in apnea; caused when breathing is regulated by PaCO2 only
, Choanal atresia - answerclosure of nasal cavity due to congenital septum
between nasal cavity and pharynx
chorionic villus sampling - answersampling of placental tissue for microscopic
and chemical examination to detect fetal abnormalities, 10-13 wks gest
chromosomal inversion - answerWhen part of the chromosome becomes oriented
in the reverse of its usual direction; usually normal in the parent but causes
severe defect in children
Clasp-knife response - answerA form of resistance seen during range of motion
of a hypertonic joint where there is greatest resistance at the initiation of range
that lessens with movement through the range of motion
Cremasteric reflex - answerupward pull of testicles and scrotum due to touch
Cri du chat syndrome - answerA deletion of the short arm of chromosome 5
associated with an array of congenital malformations, the most characteristic of
which is an infant cry that resembles a meowing cat; microcephaly, heart defects
cystic fibrosis - answerAutosomal recessive; chloride channel defect leads to
sticky mucus. 1/25 white people is a carrier.