Chapter 12: Miscellaneous Diseases

Symptoms of Gaucher's disease

Aseptic necrosis (especially involving the femoral heads) is a common complication. The spleen is usually greatly enlarged, and hepatomegaly is common.

Which of the following diseases is caused by an error in metabolism? 1) Phenylketonuria 2) Homocystinuria 3) Scurvy

1 and 2 PKU = an inborn error of metabolism ... (pg. 429) Homocystinuria = an inborn error of metabolism ... (pg. 428)

Which of the following vitamins can be stored by the body tissues? 1) Vitamin K 2) Vitamin D 3) Vitamin E

1, 2, and 3 pg. 419: fat-soluble vitamins (A, D, E, K)

Which of the following are major B vitamins? 1) Beriberi 2) Pantothenic acid 3) Niacin

2 and 3 pg. 419: the major B vitamins are thiamine (B1), riboflavin, niacin (B3), pantothenic acid, cobalamin (B12), and folic acid.

Which of the following is categorized as a genetic amino acid disorder? 1) Gaucher's disease 2) Phenylketonuria 3) Marfan Syndrome 4) Sarcoidosis

2) Phenylketonuria pg. 429: Genetic amino acid disorder = Phenylketonuria (PKU) is an inborn error of metabolism in which an enzyme deficiency results in the impaired conversion of phenylalanine to tyrosine.

If a patient is suspected to suffer from beriberi, which of the following radiographs would demonstrate signs of this disease?

A chest x-ray pg. 420: figure 12-1

Symptoms of systemic lupus erythematosus

Characterized by a butterfly-shaped rash across the nose and cheeks. Pain in multiple muscles and joints is the most frequent clinical complaint

The most common trisomy disorder is Turner's syndrome Down syndrome muscular dystrophy pheylketonuria

Down syndrome pg. 426: down syndrome, the most common of the trisomy disorders, is caused by an extra-autosomal chromosome.

The most common trisomy disorder is:

Down syndrome pg. 426: down syndrome, the most common of the trisomy disorders, is caused by an extra-autosomal chromosome.

The most common type of muscular dystrophy is:

Duchenne's muscular dystrophy pg. 425: Of the many types, the most common is Duchenne's muscular dystrophy

Severe protein-calorie malnutrition (kwashiorkor) causes:

Emaciation pg. 422: severe protein-calorie malnutrition (Kwashiorkor) causes an imbalance between the bodies supply of nutrients and its demand for energy causes a wasting away or emaciation.

Radiographic evidence of beriberi includes:

Enlarged heart shadow and increased pulmonary vascular markings pg. 420: initially peripheral vasodilation increases cardiac output, which then produces a generalized enlargement of the cardiac silhouette and increased pulmonary vascular markings.

Night blindness may be caused by a lack of vitamin E.

F pg. 421: Vitamin A is essential for vision because it is a vital component of the pigment that absorbs light in the rods of the retina. A lack of vitamin A results in night blindness, an inability to see in dull light.

Egg yolks and fish are good sources of vitamin K.

F pg. 421: good sources of vitamin A include dairy products, egg yolks, fish, and vegetables (carrots, spinach, and sweet potatoes)

Turner's syndrome is a male with only one X chromosome.

F pg. 427: Turner's syndrom - although the patient appears to be female, she has only one X chromosome as a result of faulty cellular division.

Muscular dystrophy is a genetic disorder in which a metabolic error causes faulty amino acid absorption.

F pg. 430: cystinuria is an inborn error of amino acid transport characterized by impaired tubular absorption and excessive urinary excretion of several amino acids.

Which category of vitamins can be stored within body tissues? Fat soluble Water soluble Plant based Animal based

Fat soluble

Which category of vitamins can be stored within the body tissues?

Fat soluble pg. 419: the fat-soluble vitamins (A, D, E, K) can be stored within body tissues.

Which of the following vitamins can be stored within the body tissues?

Fat soluble pg. 419: the fat-soluble vitamins (A, D, E, K) can be stored within body tissues.

Which genetic amino acid disorder manifests radiographically as a loss of bone density with expansion and cortical thickening of the long bones, especially the femur?

Gaucher's disease pg. 430: Gaucher's disease - loss of bone density with expansion and cortical thickening of the long bones, especially the femur.

Gaucher's disease is categorized as a(an):

Glycogen storage disease pg. 430: Gaucher's disease is an inborn error of metabolism characterized by the accumulation of abnormal quantities of complex lipids in the reticuloendothelial cells of the spleen, liver, and bone marrow. It is a glycogen storage disease

Chronic, excessive intake of vitamins can cause:

Hypervitaminosis pg. 421: long-term excessive intake of vitamin A produces a syndrome characterized by bone and joint pain, hair loss, itching, anorexia, dryness and fissuring of the lips, hepatosplenomegaly, and yellow tinting of the skin.

Which of the following is caused by a male having two or more X chromosomes?

Klinefelter's syndrome pg. 427: Kleinfelter's syndrome (testicular dysgenesis) is a disorder characterized by small testes that fail to mature and to produce sperm and testosterone. Fundamental defect is the presence of two or more X chromosomes.

Arachnodactyly is characteristic of persons with Klinefelter's syndrome Down syndrome Turner's syndrome Marfan syndrome

Marfan syndrome

Connective tissue disorder affecting vision, skeletal, and cardiovascular systems

Marfan syndrome pg. 427: Marfan's syndrome is an inherited generalized disorder of connective tissue with ocular, skeletal, and cardiovascular manifestations

Which of the following is an inherited generalized disorder of connective tissue with ocular, skeletal, and cardiovascular manifestations?

Marfan syndrome pg. 427: Marfan's syndrome is an inherited generalized disorder of connective tissue with ocular, skeletal, and cardiovascular manifestations

Arachnodactyly is characteristic of persons with:

Marfan syndrome pg. 428

An elongation and thinning of the tubular bones, most prominent in the hands and feet, may be seen in patients with ______.

Marfan syndrome pg. 428: major radiographic abnormality is elongation and thinning of the tubular bones.

Which of the following is an extremely malignant skin cancer? Sarcoidosis Gaucher's disease Melanoma Multiple myeloma

Melanoma

Which of the following is an extremely malignant skin cancer?

Melanoma pg. 424: Melanoma is an extremely malignant skin cancer that metastasizes widely throughout the body.

A group of chronic inherited conditions in which fat replaces muscle is known as:

Muscular dystrophy pg. 425: Muscular dystrophy refers to a group of chronic inherited conditions in which fat replaces muscle, leading to generalized weakness and eventually death due to respiratory muscle failure and pneumonia

Muscle bundles that appear finely striated or striped on radiographic images are suggestive of ______.

Muscular dystrophy pg. 425: muscular dystrophy - on radiographs, the extensive accumulation of fat within the remaining muscle bundles produces fin striated, or striped, appearance

Which of the following is characteristic of a vitamin A deficiency?

Night blindness pg. 421: Vitamin A is essential for vision because it is a vital component of the pigment that absorbs light in the rods of the retina. A lack of vitamin A results in night blindness, an inability to see in dull light.

______refers to an excess of adipose (fatty) tissue resulting from a consistent excessive caloric intake as compared with calories required, or used, by daily activities.

Obesity pg 422: Obesity refers to an excess of adipose (fatty) tissue that develops when caloric intake (from food) consistently exceeds the amount of calories required by the body to perform its daily activities.

Vitamins are synthesized by:

Plants pg. 419: vitamins are formed (synthesized) only by plants

Another name for vitamin A is:

Retinol pg. 421: Retinol (or vitamin A)

Which disease is caused by a deficiency in Vitamin C? Rickets Osteomalacia Pellagra Scurvy

Scurvy

Which disease is caused by a deficiency in Vitamin C?

Scurvy pg. 420: In patients with scuvy, the deficiency of ascorbic acid (vitamin C) leads to an inability of the supporting tissues to produce and maintain vascular endothelium and the cementing substances that hold epithelial tissues together (collagen, osteoid, and dentin).

Which of the following is a connective tissue disorder, likely an immune-complex disease, which primarily affects young or middle-aged women?

Systemic lupus erythematosus pg. 423: Systemic lupus erythematosus is a connective tissue disorder that affects primarily young or middle-aged women and most likely represents an immune complex disease

TRUE/FALSE Vitamin D is categorized as a fat-soluble vitamin.

T pg. 419: fat soluble vitamins = A, D, E, K

Beriberi is caused by a thiamine deficiency.

T pg. 420: Beriberi results from a deficiency in thiamine (vitamin B1)

Rickets is caused by a vitamin D deficiency.

T pg. 420: Rickets is a bone disease of young children in which lack of vitamin D leads to decreased absorption of calcium from the GI tract, resulting in weak deformed bones.

Dairy products are good sources of vitamin A.

T pg. 421: good sources of vitamin A include dairy products, egg yolks, fish, and vegetables (carrots, spinach, and sweet potatoes)

Down syndrome is the most common trisomy disorder

T pg. 426: down syndrome, the most common of the trisomy disorders, is caused by an extra-autosomal chromosome.

Vitamin B1 is also known as:

Thiamine pg. 420: thiamine (vitamin B1)

_____is a coenzyme essential for carbohydrate metabolism that promotes growth and maintains muscle tone and heart function.

Thiamine pg. 420: thiamine (vitamin B1) - a coenzyme essential for carbohydrate metabolism that promotes growth and maintains muscle tone and heart function.

A female with only one X chromosome is diagnosed with:

Turner's syndrome pg 427: Turner's syndrom (gonadal dysgenesis), a sex chromosome monosomy disorder, is characterized by primary amenorrhea (no ovulation or menstration), sexual infantilism, short stature, and bilateral tiny gonads Although the patient appears to be female, she has only one X chromosome as a result of faulty cellular division.

Severe-protein-calorie malnutrition (kwashiorkor) causes emaciation excessive bleeding seizures diffuse lung disease

emaciation

Chronic, excessive intake of vitamins can cause kidney failure hypervitaminosis obesity sarcoidosis

hypervitaminosis

A shortened fourth metacarpal is a skeletal abnormality in patients afflicted with ______.

pg 427: Turner's syndrom (gonadal dysgenesis), a sex chromosome monosomy disorder, is characterized by primary amenorrhea (no ovulation or menstration), sexual infantilism, short stature, and bilateral tiny gonads Although the patient appears to be female, she has only one X chromosome as a result of faulty cellular division.

Gonadal dysgenesis characterized by primary amenorrhea

pg 427: Turner's syndrom (gonadal dysgenesis), a sex chromosome monosomy disorder, is characterized by primary amenorrhea (no ovulation or menstration), sexual infantilism, short stature, and bilateral tiny gonads Although the patient appears to be female, she has only one X chromosome as a result of faulty cellular division.

Primary amenorrhea, a result of a chromosomal aberration, is _____.

pg 427: Turner's syndrom (gonadal dysgenesis), a sex chromosome monosomy disorder, is characterized by primary amenorrhea (no ovulation or menstration), sexual infantilism, short stature, and bilateral tiny gonads Although the patient appears to be female, she has only one X chromosome as a result of faulty cellular division.

Which vitamin is essential in the blood-clotting mechanism? vitamin K Niacin vitamin D vitamin E

vitamin K

The B and C vitamins are categorized as:

water soluble pg. 419: water-soluble vitamins (B, C)

What is the common name for ascorbic acid?

Vitamin C pg. 420: ascorbic acid (vitamin C)

Which of the following results from a deficiency in thiamine?

Beriberi pg. 420: Beriberi results from a deficiency in thiamine (vitamin B1) - a coenzyme essential for carbohydrate metabolism that promotes growth and maintains muscle tone and heart function.

One of the early symptoms of scurvy is:

Bleeding gums pg. 420: weakening of the capillary walls in scurvy often results in bleeding into the skin, joints, and internal organs. The gums are especially affected and bleed easily.

Retinol is more commonly referred to as vitamin C vitamin D vitamin A vitamin B6

vitamin A

Retinol is more commonly referred to as:

Vitamin A pg. 421: Retinol (or vitamin A)

Cobalamin is more commonly referred to as:

Vitamin B12 pg. 419: cobalamin (B12)

Osteomalacia is caused by a deficiency in:

Vitamin D pg. 421: Rickets is a bone disease of young children in which a lack of vitamin D leads to decreased absorption of calcium from the GI tract. In adults, lack of vitamin D causes generalized softening of bones (osteomalacia)

A lack of _____ would cause excessive bleeding as a result of a lack of prothrombin, which is essential to the blood-clotting mechanism.

Vitamin K pg. 421: A deficiency of vitamin K results in excessive bleeding.

Which vitamin is essential in the blood-clotting mechanism?

Vitamin K pg. 421: vitamin K, a fat-soluble vitamin, is necessary for the formation of prothrombin, an essential ingredient in the blood-clotting mechanism.

Which of the following is defined as an essential part of the enzymatic systems that is vital to the body's cellular metabolism? Proteins Vitamins Hydrogen ions Minerals

Vitamins

_____are an essential part of the enzymatic systems that are vital to the body's cellular metabolism.

Vitamins pg. 419: vitamins are an essential part of the enzymatic systems that are vital to the body's cellular metabolism.

Which category of vitamins must be a regular part of a person's diet because they cannot be stored?

Water soluble pg. 419: water-soluble vitamins (B, C) cannot be stored and must be a regular part of the diet to prevent a deficiency.

If a patient is suspected to suffer from scurvy, which of the following radiographs would demonstrate signs of this disease?

X-ray of skeletal long bones pg. 421: figure 12-2