Question 1

Type I Gaucher's disease comprises the __________ form.

Accepted Answer

A)  Adult or non-neuronopathic 
B)  Infantile acute neuronopathic 
C)  Infantile malignant neuronopathic 
D)  Juvenile neuronopathic 
E)  None of the above 
A)  Adult or non-neuronopathic 
B)  Infantile acute neuronopathic 
C)  Infantile malignant neuronopathic 
D)  Juvenile neuronopathic 
E)  None of the above

Question 2

What is the etiology of the lipid storage diseases?

Accepted Answer

A)  Caused by various enzyme defects (inborn errors) in lipid metabolism 
B)  Alteration to the multipotential stem cell 
C)  Red cell membrane defect 
D)  Hemoglobin defect 
E)  None of the above 
A)  Caused by various enzyme defects (inborn errors) in lipid metabolism 
B)  Alteration to the multipotential stem cell 
C)  Red cell membrane defect 
D)  Hemoglobin defect 
E)  None of the above

Question 3

Type III Gaucher's disease comprises the __________ form.

Accepted Answer

A)  Adult 
B)  Non-neuronopathic 
C)  Acute neuronopathic 
D)  Subacute neuronopathic 
E)  None of the above 
A)  Adult 
B)  Non-neuronopathic 
C)  Acute neuronopathic 
D)  Subacute neuronopathic 
E)  None of the above

Question 4

In this mucopolysaccharidosis, individuals are abnormally short and have a "gargoyle" appearance with coarse facial features. Patients are mentally retarded, and the heart is damaged due to accumulation of mucopolysaccharides in the blood vessels. Hepatosplenomegaly is present.

Accepted Answer

A)  Hunter's syndrome 
B)  Hurler's syndrome 
C)  Sanfilippo's syndrome 
D)  Scheie's syndrome 
E)  None of the above 
A)  Hunter's syndrome 
B)  Hurler's syndrome 
C)  Sanfilippo's syndrome 
D)  Scheie's syndrome 
E)  None of the above

Question 5

In Tay-Sachs disease, there is an accumulation of unmetabolized __________, which has devastating effects on the central nervous system and eyes.

Accepted Answer

A)  GM2 ganglioside 
B)  Sphingomyelin 
C)  Glucocerebroside 
D)  Hexosaminidase A 
E)  Hexosaminidase B 
A)  GM2 ganglioside 
B)  Sphingomyelin 
C)  Glucocerebroside 
D)  Hexosaminidase A 
E)  Hexosaminidase B

Question 6

Which sites are most frequently examined in patients with Gaucher's disease?

Accepted Answer

A)  Peripheral blood 
B)  Bone marrow 
C)  Spleen 
D)  All of the above 
E)  None of the above 
A)  Peripheral blood 
B)  Bone marrow 
C)  Spleen 
D)  All of the above 
E)  None of the above

Question 7

Niemann-Pick disease is caused by a deficiency of __________.

Accepted Answer

A)  Sulfaminidase 
B)  β-Glucuronidase 
C)  β-Glucocerebrosidase 
D)  Sphingomyelinase 
E)  Hexosaminidase A 
A)  Sulfaminidase 
B)  β-Glucuronidase 
C)  β-Glucocerebrosidase 
D)  Sphingomyelinase 
E)  Hexosaminidase A

Question 8

Nonmetabolized products of mucopolysaccharides may be detected in the __________ of patients with mucopolysaccharidoses (MPS).

Accepted Answer

A)  Cerebral spinal fluid (CSF) 
B)  Synovial fluid 
C)  Urine 
D)  Gastric juice 
E)  None of the above 
A)  Cerebral spinal fluid (CSF) 
B)  Synovial fluid 
C)  Urine 
D)  Gastric juice 
E)  None of the above

Question 9

Which is significant regarding the appearance of lymphocytes and monocytes in the peripheral blood of a person with Niemann-Pick disease?

Accepted Answer

A)  Dark blue nucleus 
B)  Vacuolated cells 
C)  Blue-gray cytoplasm 
D)  Nucleoli present 
E)  None of the above 
A)  Dark blue nucleus 
B)  Vacuolated cells 
C)  Blue-gray cytoplasm 
D)  Nucleoli present 
E)  None of the above

Question 10

All of the following are characteristic of the three types of Gaucher's disease except:

Accepted Answer

A)  Hepatosplenomegaly 
B)  Gaucher cells present in bone marrow 
C)  Increased serum acid phosphatase 
D)  Hypercalcemia 
E)  None of the above 
A)  Hepatosplenomegaly 
B)  Gaucher cells present in bone marrow 
C)  Increased serum acid phosphatase 
D)  Hypercalcemia 
E)  None of the above

Question 11

What are the morphologic characteristics of a Gaucher cell?

Accepted Answer

A)  20-100 µm in diameter 
B)  A round to oval nuclei 
C)  Cytoplasm faintly blue 
D)  Cytoplasm has a "crumpled tissue paper" appearance 
E)  All of the above 
A)  20-100 µm in diameter 
B)  A round to oval nuclei 
C)  Cytoplasm faintly blue 
D)  Cytoplasm has a "crumpled tissue paper" appearance 
E)  All of the above

Question 12

Tay-Sachs disease is caused by a deficiency of __________ with an increase of __________.

Accepted Answer

A)  Hexosaminidase A/sphingomyelinase 
B)  Hexosaminidase B/lipase 
C)  B-Glucocerebrosidase/sulfaminidase 
D)  Hexosaminidase B/hexosaminidase A 
E)  Hexosaminidase A/hexosaminidase B 
A)  Hexosaminidase A/sphingomyelinase 
B)  Hexosaminidase B/lipase 
C)  B-Glucocerebrosidase/sulfaminidase 
D)  Hexosaminidase B/hexosaminidase A 
E)  Hexosaminidase A/hexosaminidase B

Question 13

In some patients with mucopolysaccharidoses, leukocytes such as lymphocytes and polymorphonuclear leukocytes (PMNs) contain abnormally large granules. These large granules are called:

Accepted Answer

A)  Alder-Reilly bodies 
B)  Howell-Jolly bodies 
C)  Döhle bodies 
D)  Chédiak-Higashi anomaly 
E)  May-Hegglin anomaly 
A)  Alder-Reilly bodies 
B)  Howell-Jolly bodies 
C)  Döhle bodies 
D)  Chédiak-Higashi anomaly 
E)  May-Hegglin anomaly

Question 14

All of the following are morphological characteristics of the histiocytes found in Niemann-Pick disease except:

Accepted Answer

A)  20-90 µm in diameter 
B)  Inconspicuous nucleus 
C)  Light blue cytoplasm with Wright's stain 
D)  Myeloperoxidase positive 
E)  Sudan Black B positive 
A)  20-90 µm in diameter 
B)  Inconspicuous nucleus 
C)  Light blue cytoplasm with Wright's stain 
D)  Myeloperoxidase positive 
E)  Sudan Black B positive

Question 15

Type II Gaucher's disease comprises the __________ form.

Accepted Answer

A)  Adult or non-neuronopathic 
B)  Infantile acute neuronopathic 
C)  Juvenile neuronopathic 
D)  Subacute neuronopathic 
E)  None of the above 
A)  Adult or non-neuronopathic 
B)  Infantile acute neuronopathic 
C)  Juvenile neuronopathic 
D)  Subacute neuronopathic 
E)  None of the above

Question 16

Which of the following is a characteristic of type II Gaucher's disease:

Accepted Answer

A)  Occurs in infancy 
B)  Neurologic involvement 
C)  Hepatosplenomegaly 
D)  A much rarer form of Gaucher's disease 
E)  All of the above 
A)  Occurs in infancy 
B)  Neurologic involvement 
C)  Hepatosplenomegaly 
D)  A much rarer form of Gaucher's disease 
E)  All of the above

Question 17

One factor that distinguishes true Gaucher cells from pseudo-Gaucher cells is:

Accepted Answer

A)  Cell size 
B)  Morphological characteristic 
C)  β-Glucocerebrosidase deficiency 
D)  Acid phosphatase level 
E)  None of the above 
A)  Cell size 
B)  Morphological characteristic 
C)  β-Glucocerebrosidase deficiency 
D)  Acid phosphatase level 
E)  None of the above

Exam 23: Lipid Lysosomal Storage Diseases and Histiocytosis

Type I Gaucher's disease comprises the __________ form.

What is the etiology of the lipid storage diseases?

Type III Gaucher's disease comprises the __________ form.

In this mucopolysaccharidosis, individuals are abnormally short and have a "gargoyle" appearance with coarse facial features. Patients are mentally retarded, and the heart is damaged due to accumulation of mucopolysaccharides in the blood vessels. Hepatosplenomegaly is present.

In Tay-Sachs disease, there is an accumulation of unmetabolized __________, which has devastating effects on the central nervous system and eyes.

Which sites are most frequently examined in patients with Gaucher's disease?

Niemann-Pick disease is caused by a deficiency of __________.

Nonmetabolized products of mucopolysaccharides may be detected in the __________ of patients with mucopolysaccharidoses (MPS).

Which is significant regarding the appearance of lymphocytes and monocytes in the peripheral blood of a person with Niemann-Pick disease?

All of the following are characteristic of the three types of Gaucher's disease except:

What are the morphologic characteristics of a Gaucher cell?

Tay-Sachs disease is caused by a deficiency of __________ with an increase of __________.

In some patients with mucopolysaccharidoses, leukocytes such as lymphocytes and polymorphonuclear leukocytes (PMNs) contain abnormally large granules. These large granules are called:

All of the following are morphological characteristics of the histiocytes found in Niemann-Pick disease except:

Type II Gaucher's disease comprises the __________ form.

Which of the following is a characteristic of type II Gaucher's disease:

One factor that distinguishes true Gaucher cells from pseudo-Gaucher cells is:

Morphology of Human Blood and Marrow Cells: Hematopoiesis

Bone Marrow

The Red Blood Cell: Structure and Function

Anemia: Diagnosis and Clinical Considerations

Evaluation of Red Blood Cell Morphology and Introduction to Platelet and White Blood Cell Morphology

Iron Metabolism and Hypochromic Anemias

Megaloblastic Anemias

Aplastic Anemia Including Pure Red Cell Aplasia and Congenital Dyserythropoietic Anemia and Paroxysmal Nocturnal Hemoglobinuria

Introduction to Hemolytic Anemias: Intracorpuscular Defects: I Hereditary Defects of the Red Cell Membrane

Hemolytic Anemias: Intracorpuscular Defects: II Hereditary Enzyme Deficiencies

Hemolytic Anemias: Intracorpuscular Defects: III the Hemoglobinopathies

Hemolytic Anemias: Intracorpuscular Defects: Iv Thalassemia

Hemolytic Anemias: Extracorpuscular Defects

Hypoproliferative Anemia: Anemia Associated With Systemic Diseases

Cell Biology, Disorders of Neutrophils, Infectious Mononucleosis, and Reactive Lymphocytosis

Introduction to Leukemia and the Acute Leukemias

Chronic Myeloproliferative Disorders I: Chronic Myelogenous Leukemia

Chronic Myeloproliferative Disorders Ii: Polycythemia Vera, Essential Thrombocythemia, and Idiopathic Myelofibrosis

Myelodysplastic Syndromes

Chronic Lymphocytic Leukemia and Related Lymphoproliferative Disorders

The Lymphomas

Multiple Myeloma and Related Plasma Cell Disorders

Introduction to Hemostasis

Disorders of Primary Hemostasis: Quantitative and Qualitative Platelet Disorders and Vascular Disorders

Disorders of Plasma Clotting Factors

Interaction of the Fibrinolytic, Coagulation, and Kinin Systems; Disseminated Intravascular Coagulation; and Related Pathology

Introduction to Thrombosis and Anticoagulant Therapy

Quality Control in the Hematology Laboratory

Body Fluid Examination: the Qualitative, Quantitative, and Morphologic Analysis of Serous, Cerebrospinal, and Synovial Fluids

Hematology Methods

Principles of Automated Differential Analysis

Coagulation Procedures

Applications of Flow Cytometry to Hematology and Hemostasis

Molecular Diagnostic Techniques in Hematopathology

Special Stainscytochemistry

Filters

Tay-Sachs disease is caused by a deficiency of with an increase of .