Heme/onc

Question 1

Bone marrow becomes primary site of hematopoiesis after ____ weeks

Answer 1

22 weeks GA;
Secondary yolk sac: 2.5-10 weeks
Fetal liver: 6-22 weeks

Question 2

Neonatal Autoimmune thrombocytopenia (ITP, lupus, autoimmune dz) vs neonatal alloimmune thrombocytopenia

Answer 2

Autoimmune: maternal anti-platelet antibodies destroy mom’s platelets, cross placenta, destroy baby platelets
Alloimmune = women with normal platelet counts

Question 3

Kasabech-Merrit syndrome

Answer 3

multiple skin lesions that resemble hemangiomas, or a single, large rapidly growing hemangioma. Can also have retroperitoneal or mediastinal vascular abnormalities without displaying dermatologic lesion. High output cardiac failure, DIC, thrombocytopenia

Question 4

Maternal diabetes = ____ RBC production

Answer 4

Increased RBC production associated with fetal hyperinsulinemia, tissue hypoxia, increased EPO

Question 5

Polycythemia leads to thrombo______; what are other sequelae

Answer 5

cytoPENIA. More sluggish circulation
Neuro: lethargy, irritable, apnea, seizure
Resp: hypoxia, increased WOB
Hypoglycemia (unknown mech)
Hyplcalcemia (elevated calcitonin gene related peptide)
Thrombocytopenia - platelet consumption where resistance to blood flow is highest

Question 6

Exchange transfusion equation

Answer 6

[Patient Hct - Desired Hct]/Patient Hct x infant’s blood volume

Question 7

Most common hemoglobin abnormality in world, clinical presentation

Answer 7

Hemoglobin E; asymptomatic, mild microcytic anemia, or severe transfusion-dependent anemia

Question 8

What enzyme deficiency is prevalent among Amish, Mediterranean/AfricanAsian?

Answer 8

amish = pyruvate kinase deficiency, G6PD for the others

Question 9

What disease is due to chromosomal fragility and breakage?

Answer 9

Fanconi’s anemia (congenital aplastic anemia). No hemolysis or reticulocytosis

Question 10

What is defect in hereditary spherocytosis

Answer 10

defects in membrane proteins
Ankyrin, spectrin

Question 11

Genetic mutation in sickle cell disease?

Answer 11

Valine for glutamic acid substitution at position 6 of beta-globin gene

Question 12

Effect of gestational thrombocytopenia on fetus?

Answer 12

Isolated thrombocytopenia in pregnant women of unknown etiology; does not impact fetus or infant and resolves post partum

Question 13

Timeline of hemorrhagic disease of newborn

Answer 13

Early onset: 24 hrs - placental transferred drugs that inhibit Vit K production (anticonvulsants, cephalosporin antibiotics, warfarin)
Classic: 2-7 days of life, bleeding from stump, GI bleeding, ICH, prolonged bleeding after invasive procedures (poor stores and intake)
Late onset: 2 weeks-6 months; poor intake of Vit of vit K or liver dz

All respond to vitamin K

Question 14

Treatment of transient myeloproliferative disease with chemo does or does not help reduce risk of future cancer?

Answer 14

NO

Question 15

Sacroccygeal teratomas

Answer 15

benign germ cell tumors composed of all three embryonic layers. Mature or immature (high malignant). Sporadically occur. Can cause high output HF, non-immune hydrops, consumptive coagulopathy and thrombocytopenia. Can involve dura of spinal cord, cause Neuro symptoms. Tx = complete surgical excision, including coccyx to prevent recurrence.
Recurrence risk is 10%. Risk of malignant transformation is 15-20%

Question 16

What is ligandin?

Answer 16

helps liver take bilirubin from plasma

Question 17

Fetus makes EPO in _____

Answer 17

liver (less sensitive to hypoxia compared to kidneys)

Question 18

Physiologic nadir is _____ weeks. Preterm is more ____. Production of EPO is regulated by ______

Answer 18

8-12 weeks. Preterm is earlier, more severe, requires transfusion. Production of EPO is regulated by transcription factor HIF-1

Question 19

DCC increases RBC volume by _______

Answer 19

10-15%

Question 20

most iron transfer to fetus occurs after ____ GA

Answer 20

30 weeks GA. Corresponds with peak efficiency of maternal iron absorption

Question 21

Prenatally, fetal iron accumulates at ____ mg/kg daily

Answer 21

1.6-2 mg/kg daily

Question 22

Healthy term infant’s total body iron content is ____ mg/kg body weight, ____% of which is in Hgb

Answer 22

75 mg/kg body weight, 80% in hemoglobin

Question 23

Beckwith Wiedemann, inheritance, mutation, clinical features

Answer 23

autosomal dominant, 11p15.5, macrosomia, large tongue, omphalocele, hypoglycemia –> increased intra-abdominal malignancies (Wilms tumor, hepatoblastoma), but NOT leukemia

Question 24

Factor 8/9 deficiency are _____ while 11 and 13 are _____

Answer 24

X-linked recessive, autosomal recessive
VWD is AD or AR

Question 25

Megakaryocytes only account for 0.03-0.1% of nucleated cells in BM - detected in fetal liver and circulatory system as early as _____ weeks in gestation

Answer 25

8 weeks; usually SMALLER, lower than adult megakaryocytic, but greater #

Question 26

Greater mechanisms of TAR

Answer 26

blockage in differentiation of an early megakaryocytic precursor resulting in decreased platelet production (TPO, TPO-R are normal)

Question 27

Facts about neuroblastoma

Answer 27

Children with less than 12 mo with advanced metastatic dz = favorable prognosis, adrenal site is most common primary site, derived from primitive empathetic ganglion cells. Central hypoventilation, HD, NF-1 asssociated

Question 28

Wilms tumor syndromes?

Answer 28

WAGR, Denys-Dash (progressive renal dz, male pseudohermaphroditism), Perlman syndrome (fetal gigantism, visceromegaly, abnormal facies, b/l renal hamartomas), beckwith wiedemann

Question 29

Enzyme that covers heme to biliverdin

Answer 29

heme oxygenase
Biliverdin reductase then catalyzes conversion to bilirubin
Placenta can remove indirect bilirubin but not biliverdin

Question 30

Embryonic Hgb

Answer 30

Embryonic Hgb predominates in first 8 weeks gestation (Gower 1, 2, and Poland)
Beta-globin synthesis begins to increase at 30 weeks gestation —> concomitant decrease in percentage of gamma-globing chain synthesis
Fetal-hemoglobin still accounts for 70-90% of neonate’s total Hgb at term GA
After birth, rapid decline in gamma-globulin, further increase in beta-globing production
By 1 year, infant hub is similar to adult. 95% Hgb A, 1-2% Hbgb F, 3-4% Hgb A2

Question 31

Affinity of Hgb

Answer 31

Shift in curve to left - increase in hemoglobin/oxygen affinity; fetal Hgb, (lower H+/increased pH)), decreased CO2, decreased 2,3-DPG, decreased temperature
Decrease in affinity shifts the curve to the right

Question 32

red blood cell storage lesion is

Answer 32

due to multiple changes in physicochemical nature of RBC: changes in RBC physical structure, altered RBC metabolism, depletion of NO, humoral factors (cytokines released)

Question 33

Indirect Coomb’s test

Answer 33

Rh also has C, c, D, E, e, and G antigens. Rh test tests presence but also degree of alloimmunization

In at risk woman, need to screen in first trimester, followed by repeat screening at 28 weeks

Question 34

Stages of bilirubin encephalopathy

Answer 34

Stage 1: infant with decreased activity, poor suck, hypotonia, slightly high-pitched cry (all these are reversible)
Stage 2: stage 1 + rigid extension of all four extremities, tight-fisted posturing of arms, crossed extension of legs, and high-pitched irritable cry, seizures, retrocollis (backward arching of neck), opisthotonos (backward arching of trunk) and fever
Stage 3: hypertonia with marked retrocollis and opisthotonos, stupor, coma, and a shrill cry
61C / D; adequate hydration is to ensure adequate urine output. Bilirubin isomer (lumirubin) is excreted in bile and urine