IDA/ Hemophilia/ Thalassemia/ G6PD deficiency/ neuroblastoma

Question 1

G6PD deficiency is a disease involving enzymes of the hexose monophosphate pathway.

Answer 1

true

Question 2

It has 3 clinical syndromes episodic hemolytic anemia, autoimmune hemolytic anemia and chronic non-spherocytic hemolytic anemia.

Answer 2

false

Question 3

The most common manifestations are pallor and episodic acute hemolytic anemia.

Answer 3

false

Question 4

The normal enzyme found in most populations is designated G6PD B+

Answer 4

true

Question 5

For episodic or induced hemolytic anemia, reduced GSH provides protection against oxidant threats from certain drugs and infections that would otherwise cause precipitation of hemoglobin (Heinz bodies) or damage the RBC membrane.

Answer 5

true

Question 6

Synthesis of RBC G6PD is determined by a gene on the X chromosome.

Answer 6

true

Question 7

Heterozygous females have intermediate enzymatic activity and have 2 populations of RBC: one is normal and the other is deficient in G6PD activity.

Answer 7

true

Question 8

Heterozygous females have many susceptible cells, hence, they have evident clinical hemolysis after exposure to oxidant drugs.

Answer 8

false

Question 9

Episodic hemolytic anemia occurs more frequently in males than in females.

Answer 9

true

Question 10

Most individuals with G6PD deficiency are asymptomatic with no clinical manifestations of illness unless triggered by infection, drugs or ingestion of fava beans.

Answer 10

true

Question 11

The degree of hemolysis varies with the inciting agent, amount ingested and severity of the enzyme deficiency.

Answer 11

true

Question 12

G6PD deficiency cannot produce hemolysis in the neonatal period.

Answer 12

false

Question 13

Heinz bodies are visible on Wright stained blood film and seen within 7 days.

Answer 13

false

Question 14

The diagnosis of G6PD by direct measurement is that enzyme activity in affected persons is ≤ 10% of normal.

Answer 14

true

Question 15

After a hemolytic episode reticulocytes and young RBC predominant so testing can be done now.

Answer 15

false

Question 16

Diagnosis can be suspected when G6PD activity is within the low normal range in the presence of a high reticulocyte count.

Answer 16

true

Question 17

G6PD deficiency should not be considered in any neonatal patients with hyperbilirubinemia and borderline low G6PD activity.

Answer 17

false

Question 18

Prevention of hemolysis constitutes the most important therapeutic measure.

Answer 18

true

Question 19

The usual doses of aspirin and trimethoprim-sulfamethoxazole cause clinically relevant hemolysis in the A - variety.

Answer 19

false

Question 20

If severe hemolysis has occurred, supportive therapy may require blood transfusion although recovery is the rule when the oxidant agent is discontinued.

Answer 20

true

Question 21

Neuroblastoma is the most common extracranial solid tumor in children and the most commonly diagnosed malignancy in infants.

Answer 21

true

Question 22

Neuroblastoma tumors for a spectrum from tumors in the primarily undifferentiated small round cells (neuroblastoma) to tumors consisting of mature and maturing Schwannian stroma.

Answer 22

true

Question 23

The tumors may resemble other small round blue cell tumors such as rhabdomyosarcoma, Ewing’s Sarcoma and Osteosarcoma.

Answer 23

false

Question 24

Genetic characteristics of neuroblastoma tumors that are of prognostic importance include amplification of the MYCN (N-myc) protooncogene and tumor cell DNA content or ploidy.

Answer 24

true

Question 25

Neuroblastoma develops only at one site of sympathetic nervous system tissue.

Answer 25

false

Question 26

The signs and symptoms of neuroblastoma mimics many other disorders hence early diagnosis.

Answer 26

false

Question 27

Neuroblastoma originating in the superior cervical ganglion can result in Horner Syndrome.

Answer 27

true

Question 28

Stage 4s has an incidence of 5% and survival at 5 yrs is <80%.

Answer 28

false

Question 29

Neuroblastoma can be diagnoses without a primary tumor biopsy if small round blue tumor cells are observed in bone marrow samples.

Answer 29

true

Question 30

Tumor markers homovanillic acid and vanillylmandelic acid are elevated in the blood of approximately 95% of cases and help to confirm the diagnosis.

Answer 30

false

Question 31

INSS stage 4s refer to neuroblastoma in children younger than 1 year of age with discrimination to liver, skin and/or bone marrow without bone involvement and with a primary tumor that would otherwise be staged as INSS stage 1 or 2.

Answer 31

true

Question 32

The usual treatment for children with low risk neuroblastoma is surgery for stage 1 or 2.

Answer 32

true

Question 33

The treatment for stage 4s with cure rates generally >90% without further therapy.

Answer 33

true

Question 34

Stage 4s neuroblastoma have an unfavorable prognosis and do not regress spontaneously without therapy.

Answer 34

false

Question 35

Children with intermediate risk neuroblastoma including children with stage 3 disease and infants with stage 4 disease and favorable characteristics have an excellent prognosis and >90% survival with moderate treatment.

Answer 35

true

Question 36

Hemophilia A and Hemophilia B are the most common and serious congenital coagulation factor deficiencies and their clinical findings are virtually identical.

Answer 36

true

Question 37

Increased levels of the contact factors (Factor XII, HMWK and prekallikrein) are associated with significant prolongation of aPTT.

Answer 37

false

Question 38

In the laboratory, prothrombin time (PT) measures the activation of factor X by factor VII and is therefore normal in patients with factor VIII or factor IX deficiency.

Answer 38

true

Question 39

In hemophilia A or B, clot formation is delayed and is not robust because inadequate thrombin generation leads to failure to form a tightly cross-linked fibrin clot to support the platelet plug, hence the patients with hemophilia slowly form a soft friable clot.

Answer 39

true

Question 40

Hemophilia has a high rate of spontaneous mutation

Answer 40

true

Question 41

The obvious symptoms such as easy bruising, intramuscular hematomas and hemarthrosis begins when the child begins to sit-up.

Answer 41

false

Question 42

The hallmark of hemophilia bleeding is hemathrosis and many are spontaneous.

Answer 42

true

Question 43

Life threatening bleeding in hemophilia is caused by bleeding into vital structures like the CNS or by exsanguination.

Answer 43

true

Question 44

If head trauma is of sufficient concern to suggest radiologic evaluation, factor replacement should be given. Simply put “image first, treat second”.

Answer 44

false

Question 45

The screening test for hemophilia is PTT and it is usually 2-3x the upper limit of normal.

Answer 45

true

Question 46

Hemophilia occurs in approximately 1:5000 males with 85% having factor VIII deficiency and 10-15% factor IX deficiency.

Answer 46

true

Question 47

With the availability of recombinant replacement products, prophylaxis is the standard of care for most children with severe hemophilia.

Answer 47

true

Question 48

The complications of hemophilia are chronic arthropathy, development of an inhibitor to either factor 8 or 9 and the risk of transfusion transmitted infectious diseases.

Answer 48

true

Question 49

Hemophilia C, reduced level of factor XI has mild to moderate bleeding symptoms.

Answer 49

true

Question 50

The bleeding associated with factor XI deficiency is not correlated with the amount of factor XI and if with bleeding, FFP is given.

Answer 50

true

Question 51

A full term newborn infant has 0.5 g of iron, compared to 5 g of iron in adults.

Answer 51

true

Question 52

During infancy, when growth is slow, the 1 mg/L of iron in cow’ and breastmilk makes it difficult to maintain body iron.

Answer 52

false

Question 53

Breastfed infants have an advantage because they absorb iron 2-3 times more efficiently than infants fed cow’s milk.

Answer 53

true

Question 54

Delayed (1-3min) clamping of the umbilical cord can improve iron status and reduce the risk of iron deficiency whereas early clamping (<30sec) puts the infant at risk for iron deficiency.

Answer 54

true

Question 55

In term infants, anemia caused solely by inadequate dietary iron usually occurs at 9-24 months of age and is relatively uncommon thereafter.

Answer 55

true

Question 56

Pallor is the most important clinical sign of iron deficiency and it is visible when the hemoglobin falls to 9-10 g/dL.

Answer 56

false

Question 57

In mild to moderate iron deficiency (Hgb 6-10g/dL), compensatory mechanisms (Inc levels of 2-3 diphosphoglycerate and a shift of oxygen dissociation curve) may be so effective that few symptoms of anemia aside from mild irritability are noted.

Answer 57

true

Question 58

Nonhematologic consequences of iron deficiency include pica and pagophagia.

Answer 58

true

Question 59

In progressive iron deficiency, a sequence of biochemical and hematologic events occur. First, tissue iron stores are depleted reflected by reduced serum ferritin, as iron storage protein which provides an estimate of body iron stores.

Answer 59

true

Question 60

Next, serum iron levels increase, the iron-binding capacity of the serum (serum transferrin) decreases and the transferrin saturation falls below normal.

Answer 60

false

Question 61

As iron stores decreases, iron becomes unavailable to complex with protoporphyrin to form heme, free erythrocyte protoporphyrin accumulate and hemoglobin synthesis is impaired.

Answer 61

true

Question 62

The hemoglobin is decreased in iron deficiency anemia, alpha or beta thalassemia and anemia of chronic disease.

Answer 62

true

Question 63

The serum ferritin is decreased in iron deficiency anemia, thalassemia and anemia of chronic disease.

Answer 63

false

Question 64

A daily total dose of 3-6mg/kg of elemental iron in 3 divided doses is adequate for treatment.

Answer 64

true

Question 65

Iron medication should be continued for 2-3 months after blood values normalizes to reestablish iron stores.

Answer 65

true

Question 66

Beta Thalassemia syndromes result from a decrease in beta-globin chains which results in a relative excess of alpha-globin chains.

Answer 66

true

Question 67

Beta-Thalassemia refers to the absence of production of the beta-globin.

Answer 67

true

Question 68

Beta-thalassemia indicates a mutation that makes a decreased amount of normal beta-globin, but it is still present (HbA).

Answer 68

true

Question 69

In alpha-thalassemia, an alpha mutation indicates no alpha chains produced from that gene

Answer 69

true

Question 70

An alpha mutation produces a decreased amount of alpha globin chain.

Answer 70

true

Question 71

For the pathophysiology of Beta thalassemia major there is inadequate beta globin gene production leading to a decreased levels of abnormal hemoglobin (HbA) and unbalanced alpha and beta globin chain production.

Answer 71

false

Question 72

In Alpha-thalassemia, beta and gamma globin chains are produced in excess which form bast hemoglobin (Y4) in fetal life and HbH (B4) after birth and are nonfunctional hemoglobins with very high oxygen affinity.

Answer 72

true

Question 73

If intreated, a child with homozygous Bo thalassemia becomes symptomatic during the 2nd - 6mo of llife.

Answer 73

true

Question 74

The signs of ineffective erythropoiesis are growth failure, bone deformities and no organ enlargement.

Answer 74

false

Question 75

A child with thalassemia fascie, pathologic bone fracture, marked hepatosplenomegaly and cachexia is a classic presentation of moderate disease.

Answer 75

false

Question 76

Chronic transfusion therapy improves the quality of life and reduces the complications of severe thalassemia.

Answer 76

true

Question 77

Each mL of packed RBC contains 1 mg of iron and physiologically there is a mechanism to eliminate excess body iron.

Answer 77

false

Question 78

In severe beta-thalassemia the laboratory findings are microcytosis (MCV), hypochromia, target cells and reticulocytopenia.

Answer 78

true

Question 79

Even if a child does not receive transfusions, iron eventually accumulate with elevated serum ferritin and transferrin saturation.

Answer 79

true

Question 80

Early definitive diagnosis is recommended and newborn screening techniques such as hemoglobin electrophoresis is definitive.

Answer 80

false

Question 81

Transfusions should generally be given at intervals of 3-4 weeks with the goal of being able to maintain a pretransfusion hemoglobin level of 9.5-10.5 g/dL.

Answer 81

true

Question 82

Serial serum ferritin levels are a useful screening technique in assessing iron balance trends but results may not accurately predict quantitative iron stores.

Answer 82

true

Question 83

Iron chelation therapy should start as soon as the patient becomes significantly iron overloaded and this occurs after 1 year of transfusion therapy and correlates with the serum ferritin of <1000ng/mL and or a liver iron concentration of >2,500ng/g dry weight.

Answer 83

false

Question 84

Splenectomy may be required in thalassemia patients who develop hypersplenism that is a falling steady state hemoglobin and or a rising transfusion requirement.

Answer 84

true

Question 85

Iron chelation therapy is started for patients with significant iron overload.

Answer 85

true

Question 86

Thalassemia trait is often misdiagnosed as iron deficiency in children because the 2 produce similar hematologic abnormalities on CBC and iron deficiency is much more prevalent.

Answer 86

true

Question 87

For alpha thalassemia syndrome, the deletion of all 4 alpha globin gene alleles causes prfound anemia during fetal life resulting in hydrops fetalis.

Answer 87

true

Question 88

Alpha thalassemia trait, a deletion of 2 alpha globin genes alleles manifest as a microcytic anemia that can be mistaken for iron deficiency anemia.

Answer 88

true

Question 89

HbH is a deletion of 3 alpha globin gene alleles.

Answer 89

true

Question 90

Patients with HbH disease have a marked microcytosis, anemia, mild splenomegaly and occassionaly scleral icterus or cholelithiasis.

Answer 90

true