USMLE First Aid Review

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USMLE First Aid Review

• 1st 4 pages of Pathology

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Common congenital malformations

• Heart Defects assoc. with congenital Rubella
  think Ruby Red
• Hypospadias hypobelow therefore meatus opens on
  UNDERside of penis
• Neural tube defects spina bifida and anencephaly
  assoc with decreased FA by mom
• 3 Ps Pyloric stenosis, Polyhydramnios,
  Projectile vomiting

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Congenital Heart Disease

• RIGHT to left shunts guys usually look RIGHT at
  the Ts so think 3 Ts - Tetralogy of Fallot,
  Transposition of great vessels, Truncus
  arteriosus guys notice this at an EARLY age so
  think EARLY cyanosis (blue babies)
• Left to Right Shunts VSDgtASDgtPDA
• Increased pulmonary resistance and progressive
  pulmonary hypertension
• Late cyanosis (blue kids)

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Eisenmengers Syndrome

• Uncorrected VSD, ASD, or PDA youll get
  progressive pulmonary HTN, increased pulmonary
  resistance, so the shunt changes from L R
  to R L
• Eisenmenger think Eisenhower a president who said
  one thing when he ran for office and then changed
  his mind once elected
• This made his voters so angry they were blue in
  the face (cyanosis) and they wanted to club him
  (clubbing)

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Tetralogy of Fallot

• Pulmonary stenosis
• RVH
• Overriding aorta
• VSD
• PROVe
• Early cyanosis, boot shaped heart X-Ray

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Boot shaped heart
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Transposition of Great Vessels

• Aorta leaves RV (anterior) and Pulmonary trunk
  leaves LV (posterior)
• Separation of systemic and pulmonary circ.
• Not compatible with life unless shunt present for
  mixing
• Assoc with diabetic moms
• Too much Glucose in Vessels TGV

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Coarctation of Aorta

• Infantile type-aortic stenosis proximal to
  insertion of ductus arteriosus (preductal)
• Infantile is IN close to heart (assoc with
  Turners)
• Adult type-stenosis is distal (postductal)
• aDult is Distal to Ductus
• Assoc with rib notching, UE HTN, and LE weak
  pulses

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Coarctation of Aorta
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Patent Ductus Arteriosus

• Persistent connection b/w aorta and pulmonary
  artery
• Normally closes within hrs to days, but if
  remains open get L to R shunt (A to P)
• Get RVH and Machine like murmur
• Have to get a Patent when you invent a Machine

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More PDA

• INdomethacin used to close PDA because it lets no
  more blood INto pulmonary artery from the aorta
• PGE (prostaglandin E) used to keep it open
  necessary in cases of transposition of great
  vessels

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Down Syndrome

• Most common chromo disorder
• MR, flat facial profile, prominent epicanthal
  folds, simian crease, duodenal atresia, CHD (esp
  ASD)
• Increased risk of Alzheimers and ALL
• Associated with advanced maternal age

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Down Contd

• Trisomy 21
• Down syndrome
• Drinking age 21
• Decreased levels of alpha-fetoprotein

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Simian Crease
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Edwards syndrome

• Severe MR, rocker bottom feet, low set ears,
  micrognathia (mandibular smallness), CHD,
  clenched hands, prominent occiput
• Death usually within 1 year
• Edwards think Election age 18 and trisomy 18

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Edwards
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Pataus syndrome

• Severe MR, micropthalmia, microcephaly, cleft
  lip/palate, CHD, polydactyly
• Death usually within 1 year
• Pataus trisomy 13 think Puberty 13
• Pataus, Polydactyly, cleft Palate

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Klinefelters syndrome

• Male XXY
• Testicular atrophy, eunuchoid body shape,
  gynecomastia, female hair distribution
• The extra (inactive X chromosome is called a Barr
  body)
• These guys are barred from being Calvin Kline
  models

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Turners syndrome
Hugs and Kisses XO

• Female XO
• Short stature, ovarian dysgenesis, webbed neck,
  coarctation of aorta
• Most common cause of amenorrhea
• Hugs and kisses from Tina TURNER

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Double Y Males

• Phenotypically normal, very tall, severe acne,
  antisocial behavior
• Seen with high frequency among inmates of penal
  institutions

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Duchennes Muscular Dystrophy

• X-linked frame-shift mutation
• Deleted dystrophin gene accelerated muscle
  break down
• Duchennes Deleted Dystrophin
• Onset before age 5
• Weakness begins in pelvic girdle muscles and
  progresses superiorly
• Pseudohypertrophy of calf muscles, cardiac
  myopathy

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Duchennes contd

• Use of Gowers maneuver is characteristic (using
  the upper extremities to stand up)
• Diagnose muscular dystrophies by increased CPK
  and muscle biopsy

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Beckers MD

• Mutated dystrophin gene is less severe than
  Duchennes

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Pseudohermaphroditism

• Definition disagreement b/w the phenotypic
  (external genitalia) and gonadal (testes vs
  ovaries) sex
• Gender based on external genitalia and sex of
  upbringing

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Female pseudo

• XX
• Ovaries present but external genitalia virilized
  or ambiguous
• Secondary to excessive/inappropriate exposure to
  androgenic steroids during early gestation
• Ex congenital adrenal hyperplasia or exogenous
  admin. of androgens during pregnancy

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Male pseudo.

• XY
• Testes present, but external genitalia are female
  or ambiguous
• Most common form is testicular feminization
  (androgen insensitivity) which results from a
  mutation in the androgen receptor gene
• Blind end vagina

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The End!!