NEO GI BRODSKY Flashcards
OMPHALOCELE IS ASSOCIATED WITH YOUNG AGE OR OLDER AGE AND IS IT ASSOC WITH SYNDROMES? WHICH ONES?
Omphalocele is a midline defect characterized by eviscerated abdominal contents typically
covered by a protective sac. It is associated with advanced maternal age and approximately 30% of
affected infants have an abnormal karyotype, including trisomy 13, 18, and 21. Approximately 50%
to 70% of affected patients have associated congenital anomalies, including 10% of cases with
Beckwith-Wiedemann syndrome characterized by omphalocele, gigantism, macroglossia, and
hypoglycemia secondary to pancreatic hyperplasia. Several genes including pituitary homeobox 2,
insulin-like growth factor 2, cyclin-dependent kinase inhibitor 1C, and a methylenetetrahydrofolate
reductase gene polymorphism (677C-T) have been associated with an omphalocele
Neonatal hemochromatosis recurrence risk? what is the mechanism? what can be given to the mohter to decrease risk of severe neonatal hemochromatosis in at risk pregnancies?
recurrence risk of neonatal hemochromatosis approaches 90% in pregnancies subsequent to the
index case,
—consistent with the mechanism of fetal alloimmune injury. Studies have demonstrated that
IVIG, when given to a pregnant woman weekly beginning at 18 weeks’ gestation, significantly decreases
the risk of severe neonatal hemochromatosis in at-risk pregnancies.
Is protein digestion in neonates adequate? why if so or not? what is there increased uptake of ? Is gastric PH increased or decreased in neonates? why? Is chymotrypsin and trypsin increased or decreased in preterm and fullterm infants?
Chymotrypsin and trypsin are present in duodenal fluid and decreased in both preterm and fullterm
infants
In general, protein digestion in neonates is adequate because of normal nitrogen absorption and
increased intestinal uptake of intact protein compared with adults. This increased uptake is a result of
increased secretory IgA levels and increased mucosal permeability. Gastric pH is increased in neonates
due to decreased HCl secretion. Dipeptidase in the mucosa and amino acid transport capacity are both
well-developed early in life. Chymotrypsin and trypsin are present in the duodenal fluid and while
amounts are decreased in infants, these compounds remain important for protein digestion in neonates.
incidence of jejunal ileal atresias? M or F predom? how often distal ileal vs proximal?
Jejunal-ileal atresia is more common than duodenal or colonic atresia with an incidence of 1 per
1,500 to 5,000 births. The frequency is similar between males and females. The frequency with which
jejunal-ileal atresias occur in particular small bowel locations is distal ileum (36%) > proximal
jejunum (31%) > distal jejunum (30%) > proximal ileum (13%). Jejunal-ileal atresia is most
commonly single, however multiple atresias occur in 6% to 20% of cases. Polyhydramnios occurs in
approximately 1/3 of infants with jejunal atresia and is less common in fetuses with ileal atresia.
Intrauterine ischemia is the most common etiology, which can be caused by any of the following:
Volvulus
Malrotation
Intestinal strangulation at the umbilical ring
Intestinal perforation
Vasoconstrictive drugs including cocaine, pseudoephedrine, and nicotine
The presence of bile droplets, meconium, and lanugo distal to the jejunal-ileal atresia result in
obstruction after intestinal development, unlike duodenal atresia in which the obstruction occurs during
development. Postnatally, a greater degree of intraluminal air evident on an abdominal radiograph
generally correlates with a more distal obstruction.
incidence of pyloric stenosis? m or f predominance. recurrence risk ? RISK OF CHILD WITH PS IF MOM HAS HX OF PS? VS PATERNAL HX? WHAT BLOOD TYPES IS PS ASSOC WITH? METABOLIC DERANGEMENT IN PS?
incidence is approximately 1 per 3,000 births and is greater in males than females, particularly
first-born males. The recurrence risk of pyloric stenosis for a family with one child who has pyloric
stenosis is 3% for subsequent children (4% if male, 2.4% if female). The risk of having a child with
pyloric stenosis if the mother has a history of pyloric stenosis is 19% for a son and 7% for a daughter.
The risk of having a child with pyloric stenosis with a paternal history of pyloric stenosis is 5.5% for a
son and 2.4% for a daughter. Pyloric stenosis has been associated with blood types O and B. The
classic metabolic derangement associated with pyloric stenosis is a hypochloremic hypokalemic
metabolic alkalosis. This occurs as a result of electrolyte losses from gastric outlet obstruction and
repeated vomiting.
inheritance pattern for schwachman diamond? chromosome?
AR and chr 7
Shwachman-Diamond syndrome is a rare autosomal recessive disorder with an estimated incidence
of 1 in 75,000. 90% of cases of SDS are associated with a mutation in the SDS gene located on
chromosome 7q11, which plays an important role in the maturation of the 60S ribosomal subunit and
ribosomal assembly
clinical presentation of schwachman diamond?
SDS often presents in infancy with the following:
*Bone marrow failure (neutropenia, anemia, thrombocytopenia or general pancytopenia)
*Pancreatic dysfunction (steatorrhea, failure to thrive)
*Recurrent infections
*Skeletal abnormalities (metaphyseal dystosis, thoracic dystrophies, low turnover osteopenia)
Neutropenia is the most common hematologic abnormality associated with SDS. Patients with SDS
are at increased risk of myelodysplastic syndromes and leukemia, including acute myeloid leukemia and
aplastic anemia.
duodenal atresia is associated with?
Duodenal atresia occurs in
approximately 1 in 20,000 to 40,000 births. It is commonly associated with other congenital anomalies
including malrotation (20%), congenital heart disease (30%), esophageal atresia (10%), genitourinary anomalies (11%), and annular pancreas (20%). One-third of infants with duodenal atresia will also
have trisomy 21.
References:
Brodsky D,
how does duodenal atresia happen?
Duodenal atresia occurs as a result of failure of recanalization of the intestinal tube
during the 8-10th weeks of gestation after obliteration of the lumen by epithelial proliferation during the
6-7th weeks of gestation. This most commonly occurs in the second portion of the duodenum. In
contrast, jejunal and ileal atresias are thought to result from intrauterine ischemic injury. Prenatally, fetal
ultrasonographic often reveals polyhydramnios or intestinal distention. Bilious emesis in the first 24 hours of life is the most common postnatal presentation. The classic abdominal radiographic findings
are the “double bubble” sign (as found in this infant’s abdominal radiograph), an air-fluid level, and a
lack of distal intestinal air.
