Kumar: Robbins and Cotran Pathologic Basis of Disease, 8th Edition
Chapter 01: Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death
- A 60-year-old man who had generalized atherosclerosis died 24 hours after having a stroke. A cerebral infarct was found at autopsy. Necrosis of the brain is classified as
ANS: B, Brain infarcts are characterized by liquefactive necrosis.
- A 30-year-old woman who had leukemia was treated with bone marrow transplantation. She developed a skin rash that was interpreted as a sign of a graft-versus- host reaction. A skin biopsy was performed. In the epidermis, there were scattered dead epidermal cells that had rounded contours and pyknotic nuclei. This form of cell death is caused by
|a.||activation of caspases through receptor transmitted signals on the cell surface|
|b.||inhibition of ATPase|
|c.||inhibition of oxidative phosphorylation|
|d.||activation of lysosomal enzymes|
|e.||depletion of glycogen|
ANS: A, Graft-versus-host–induced cell death in the epidermis is a form of apoptosis. It is mediated by caspases and other enzymes of the suicide pathway of “programmed cell death.”
- Uptake of bacteria into the cytoplasm of neutrophilic leukocytes is called
ANS: B, Uptake of bacteria and other exogenous particulate material into the phagosomes is called phagocytosis.
- A 90-year-old man died in a nursing home. During the past 10 years, he was unable to care for himself and was mentally incoherent. He had no memory and could not hold a conversation. He was unaware of his surroundings. At autopsy, the brain showed signs of Alzheimer disease, and there were neurons containing numerous neurofibrillary tangles. These cytoplasmic structures are formed from which component of the neurons?
|b.||Rough endoplasmic reticulum|
|c.||Smooth endoplasmic reticulum|
ANS: E, Neurofibrillary tangles are composed of microtubule-associated proteins and neurofilaments, which form the cytoskeleton of nerve cells.
- Continuous expression of the gene for atrial natriuretic factor in the myocardial cells of the left ventricle is typically a consequence of
ANS: C, Atrial natriuretic factor (ANF) is produced during fetal life in both the atrial and ventricular cells of the heart. After birth, the ANF gene remains active only in the atrium, but can be activated in ventricular cells undergoing hypertrophy. Arterial hypertension is the most common cause of ventricular hypertrophy.
- Ubiquitin-proteasome degradation of plasma proteins is opposed by
|c.||tumor necrosis factor α|
ANS: A, Insulin can oppose ubiquitin-proteasome degradation of plasma proteins, whereas all other hormones and mediators of inflammation listed here accelerate it.
- A 28-year-old man was found to have cirrhosis of the liver and pulmonary emphysema. The liver cells contained globular inclusions in their cytoplasm, which by electron microscopy are shown to be located inside the
|b.||smooth endoplasmic reticulum|
|c.||rough endoplasmic reticulum|
ANS: C, The clinical history (i.e., the concurrence of cirrhosis and pulmonary emphysema) suggests that this young man has a1-antitrypsin (AAT) deficiency. The cytoplasmic globules in the liver cells represent misfolded AAT, which cannot be excreted from the liver cells and remains inside the liver cells in the dilated cisterns of the rough endoplasmic reticulum.
- A 60-year-old obese man was admitted to the hospital for treatment of alcoholism. He has diabetes mellitus. A liver biopsy was performed, and the specimen showed that the liver cells contain increased amounts of
ANS: C, The three most common causes of fatty liver are obesity, alcoholism, and diabetes mellitus. Fat is stored in the liver cells predominantly in the form of triglycerides.
- A 55-year-old man who was on renal dialysis was admitted to the hospital for evaluation of nausea and vomiting. A gastric biopsy was performed. The gastric mucosa contained foci of amorphous, bluish (basophilic) material forming aggregates 10-20 mm in diameter. These aggregates were seen mostly in the stroma between the foveolar cells. No other abnormalities were seen, and the pathologist concluded that these changes represent evidence of
|a.||Helicobacter pylori infection|
|b.||peptic ulcer formation|
ANS: D, Bluish material in the stroma of the stomach represents foci of calcification. In patients who have chronic renal disease, such calcifications occur in the stomach, the lungs, or the kidneys, and are classified as metastatic. Metastatic calcifications occur in patients who have hypercalcemia, which in this patient was most likely caused by secondary hyperparathyroidism.
Kumar: Robbins and Cotran Pathologic Basis of Disease, 8th Edition
Chapter 05: Genetic Disorders
- Which of the following diseases is caused by a trinucleotide repeat mutation?
|d.||Fragile X syndrome|
ANS: D, Fragile X syndrome is caused by a trinucleotide repeat mutation of the long arm of the X chromosome. Patients with the disease present with mental retardation and enlarged testes.
- In which of the following Mendelian disorders is the age of onset delayed and the symptoms of the disease do not appear before adulthood?
ANS: C, Symptoms of Huntington disease, which include chorea and mental deterioration, are typically delayed and do not appear before adulthood.
- Mutation of the gene for lysyl hydroxylase in the kyphoscoliosis type Ehlers-Danlos syndrome (ED type VI) causes weakness of bones and cutis laxa because of abnormal collagen
ANS: C, Lysyl hydroxylase is an enzyme that is essential for cross-linking of collagen. Without it, the collagen never achieves full structural integrity and strength; accordingly, the bones are weak and prone to deformation, whereas the skin becomes hyperextensible (“cutis laxa”).
- Splenomegaly and skeletal changes due to a nonlethal lysosomal storage disease caused by the mutation of the gene encoding glucocerebrosidase are features of which disease?
ANS: D, Gaucher disease is caused by a mutation of the gene encoding glucocerebrosidase. In the most common of the three forms of Gaucher disease, which accounts for 99% of all cases, there is splenomegaly, lymphadenopathy, involvement of the bone marrow, and skeletal changes.
- A 7-year-old child complained of frequent muscle cramps during play. A muscle biopsy revealed accumulation of glycogen in the skeletal muscle cells and a lack of muscle phosphorylase. Which form of glycogenosis is this?
|a.||Type I (von Gierke disease)|
|b.||Type II (Pompe disease)|
|c.||Type III (Cori-Forbes’ disease)|
|d.||Type IV (Andersen disease)|
|e.||Type V (McArdle disease)|
ANS: E, Type V glycogenosis, also known as McArdle disease, is caused by muscle phosphorylase deficiency. Patients present with muscle cramps. In these patients, the blood level of lactic acid does not rise after exercise, because the enzyme deficiency prevents anaerobic glycolysis in the muscle cells.
- Which malignancy occurs at a high rate in persons affected with Down syndrome?
|a.||Acute lymphoblastic leukemia|
|b.||Chronic lymphocytic leukemia|
|c.||Chronic myelogenous leukemia|
ANS: A, Children with Down syndrome are at a 10 to 20-fold higher risk of developing acute lymphoblastic leukemia or acute myelogenous leukemia than are their age-matched controls.
- Chromosome 22q11 deletion is typically associated with
|e.||simian crease on hands|
ANS: C, Chromosome 22q11 deletion is found in children who have DiGeorge syndrome and velocardiofacial syndrome. These two syndromes are known to be closely related and are known as the CATCH 22 syndrome (cardiac abnormalities, anomalous facial features, thymic hypoplasia with T-cell deficiencies, cleft palate, and hypocalcemia due to hypoparathyroidism resulting from chromosome 22q11 deletion).
- An infertile woman was examined cytogenetically and was found to have deletions of portions of the long arm and short arm of the chromosome X, resulting in a ring chromosome, 46,X,r(X). Which of the following is the most likely diagnosis?
ANS: E, A ring chromosome, 46,X,r(X), is found in patients with Turner syndrome. Such patients are in a minority, since most patients with Turner syndrome (57%) actually have a 45,X karyotype and lack one of the two X chromosomes.