Absite Topic Review

Nir Hus

Nir Hus

Predict Increased risk BRCA-1,2 mutation

 BRCA I  Ovarian CA – 40% lifetime risk  Male Breast CA – 1% lifetime risk

 BRCA II  Ovarian CA – 10% lifetime risk  Male Breast CA – 10% lifetime risk

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BRCA cont.

 BRCA gene + family Hx = 60% lifetime risk of breast CA (autosomal dominant)

 Bi prophylactic mastectomy w/ BRCA gene results in decreased risk of breast CA by 90%  Add TAH & BSO decrease risk 95%

 CA in a person w/ BRCA I,II carries a 50% risk of developing CA in contralateral breast.

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  A newborn infant fails to pass meconium in the 1st 24 hrs of life & subsequently gets progressive abdominal distention. Plain films show a distended colon. On exam, the child has an anus located in the proper position and on rectal exam there is explosive release of watery stool. The most appropriate next step is?

A.  Upper GI series B.  Barium Enema C.  Enteroclysis D.  Rectal Bx.

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Hirschsprung’s disease

  More common in Males   #1 cause of colonic obstruction in infants   Most common sign infants fail to pass

meconium is 1st 24hrs.   Can also present in older individuals as chronic

constipation.   Results in ABD distention and colitis.   Anorectal exam explosive stool release.   Barium enema can be normal, but shows a

spastic distal segment and dilated proximal segment.

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Hirschsprung’s disease cont.

 Rectal Bx is the gold standard in diagnosis of the condition. Will show absence of ganglion cells in myenteric plexus.

 Tx colon resection until proximal to the area where we see ganglionic cells.

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Gastroschisis

  Associated congenital anomalies are uncommon and occur in about 10% of cases, most commonly intestinal atresia or stenosis.

  These anomalies are thought to reflect mechanical or vascular compromise to the herniated bowel.

  Rarely, infants with gastroschisis will have complete loss of small bowel secondary to in utero volvulus.

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Nir Hus

Gastroschisis Pathophysiology.   In normal fetal development, there are two paired

umbilical veins.   Intestine returns to the abdominal cavity through the

umbilicus.   The right umbilical vein undergoes resorption, leaving

the left umbilical vein intact.   Weakness of the umbilical membrane at the site of

umbilical vein resorption may evolve into a hernia, and, in the case of membrane rupture, evisceration of the intestine through the defect may occur.

  This explanation is consistent with the clinical observation that the abdominal wall defect in gastroschisis nearly always is located to the right of the umbilicus.

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