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Set 2 (questions 26-50)
|B.||sickle cell anemia|
All the diseases listed in this question represent a mutation of genes that encode a specific protein, but only phenylketonuria is related to a gene that encodes an enzyme (phenylalanine hydroxylase). Cystic fibrosis involves the cystic fibrosis transmembrane conductance regulator, sickle cell anemia involves hemoglobin beta gene, Marfans syndrome involves a structural protein (fibrillin), and hereditary spherocytosis a structural protein (spectrin or ankyrin) in the cytoskeleton of red blood cells.
Heteroplasm, a mixture of normal and abnormal mitochondria in various tissues, accounts for the variable severity of mitochondrial diseases. Heterochromatin is clumped chromatin in the nucleus that remains clumped during mitosis. Heterotaxia is the technical term for abnormally located organs. Mosaicism is a juxtaposition of genetically distinct cells in the same tissues, as is sometimes seen in Turners syndrome. Dysgenesis is abnormal development of organs or tissues.
|A.||vascular endothelial growth factor (VEGF)|
VEGF, a secretory product of many cells, promotes angiogenesis by binding to receptors on endothelial cells. VEGF promotes endothelial cell growth, migration, and vessel formation. Thrombospondin (platelet factor 4), angiostatin (cleavage product of plasminogen), endostatin (cleavage product of collagen type XVIII), and vasostatin (cleavage product of calretinin) prevent angiogenesis.
Ovarian cancer has a tendency for transcoelomic spread. Such tumors detach from the primary site, float free in the abdominal cavity, and implant on the serosal surface of the liver, the intestines, or the lower surface of the diaphragm.
|B.||oat-cell (small cell) carcinoma|
|C.||squamous cell carcinoma|
Hypercalcemia is most often caused by the parathyroid hormonerelated protein (PTHrP), a calcium regulatory polypeptide hormone. PTHrP is normally secreted by squamous cells of the skin and can be found in the blood of patients who have squamous cell carcinoma of the bronchi.
|E.||squamous cell carcinoma|
Exophytic squamous cell tumors of the skin or transitional cell urinary bladder tumors are called papillomas (i.e., appear nipple-like; the term is derived from the Latin word papilla, or nipple). Adenomas and fibroadenomas are tumors composed of glandular epithelium. A rhabdomyoma is a mesenchymal tumor composed of striated muscle cells and not an epithelial neoplasm. Squamous cell carcinoma is an epithelial tumor but is malignant in contrast to papilloma.
All lymphomas are malignant, although their degree of malignancy varies. All other tumors listed here are benign. Adenoma is a benign tumor of glandular epithelium, leiomyoma of smooth muscle cells, chondroma of cartilage cells, and capillary hemangioma of blood vessels.
|D.||cytochrome P450 oxygenase|
Cytochrome P450 is a group of enzymes that are essential for the metabolic conversion of many endogenous and exogenous substances in liver cells. These enzymes are involved in the conversion of some procarcinogens into proximate carcinogens. The carcinogens derived from the conversion of azo dyes in liver cells are released into the blood and reach the urinary bladder, where they cause urothelial neoplasia. Alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase belong to the clinically important enzymes forming the so-called liver function tests and are not involved in carcinogenesis. DNAse is an enzyme that degrades DNA and is not related to activation of carcinogens, which takes place in the microsomal fraction of the cytoplasm.
|A.||human papilloma virus|
|C.||hepatitis virus B|
|D.||human T-cell lymphoma/leukemia virus|
|E.||herpes virus 8|
Herpes virus 8 plays a role in the pathogenesis of Kaposis sarcoma. Human papilloma virus causes carcinomas of the cervix, vulva, and penis. Epstein-Barr virus has been linked to Burkitts lymphoma and nasopharyngeal carcinoma. Human T-cell lymphoma/leukemia virus is the cause of T-cell lymphoid neoplasms.
Asbestos has an important role in the pathogenesis of mesotheliomas, malignant tumors of the pleura. Lung cancers also occur at a higher rate following long-term asbestos exposure.
AFP is the major fetal plasma protein produced by the fetal liver. AFP is also produced by liver cell carcinomas, and thus in adults it is a good serological marker of hepatocellular carcinoma. Germ cell tumors containing yolk sac components also secrete AFP into the blood. Other carcinomas listed in this question do not secrete AFP. Adenocarcinomas of the colon, esophagus, stomach, and pancreas produce carcinoembryonic antigen, which can also be used as a serological tumor marker.
|A.||papillary carcinoma of the thyroid|
|B.||basal cell carcinoma of the skin|
|D.||seminoma of the testis|
|E.||adenocarcinoma of the pancreas|
Adenocarcinoma of the pancreas is almost invariably lethal and only 5% of all patients survive for 5 years. Seventy percent or more of patients who have the other four tumors listed here survive more than 5 years with modern therapy.
|A.||X-linked agammaglobulinemia of Bruton|
|C.||adenosine deaminase deficiency|
|D.||severe combined immunodeficiency of Swiss type|
The male members of this kindred are affected by X-linked agammaglobulinemia (XLA), or Brutons disease. XLA affects only males. The affected boys show signs of immunodeficiency and have very low serum IgG levels or complete agammaglobulinemia combined with a lack of B-lymphocyte maturation in lymph nodes. Pre-B cells are present but do not mature into B lymphocytes or plasma cells. T lymphocytes form normally. The other four immunodeficiency disorders are not inherited as X-linked traits and affect both males and females. DiGeorges syndrome is a T-cell deficiency related to aplasia or hypoplasia of the thymus. Adenosine deaminase deficiency and other forms of combined immunodeficiency and ataxia-telangiectasia involve both B and T lymphocytes.
|D.||natural killer cells|
Human immunodeficiency virus selectively infects the CD4+ T-helper lymphocytes.
Like other type I hypersensitivity reactions, allergic rhinitis (hay fever), and atopic conjunctivitis are mediated by IgE.
Hemolysis due to maternal-fetal incompatibility represents a type II hypersensitivity reaction. In classic cases the red blood cells of an Rh(+) fetus/infant are destroyed by anti-Rh antibodies in a Rh() mother sensitized to Rh(+) antigen in a previous pregnancy. Binding of the cytotoxic maternal antibodies to fetal red blood cells activates complement, which forms the membrane attacked complex (MAC) perforating the red blood cell membrane.
|A.||Thyroid-stimulating hormone receptor|
Patients with Graves disease have antibodies to the receptor for the thyroid-stimulating hormone (TSH). These antibodies bind to thyroid follicular cells, stimulating them to produce thyroid hormones thyroxin (T4) and triiodothyronine (T3). Antibodies to thyroglobulin are found in Hashimotos disease. Antibodies to smooth muscle cells are found in autoimmune hepatitis. Antibodies to mitochondria are found in primary biliary cirrhosis. Antibodies to centromere are found in scleroderma.
Condylomata lata are typically found in secondary syphilis, one to three months after onset of infection. Recurrence of secondary syphilis can occur in asymptomatic patients considered to have latent syphilis.
|C.||multinucleated giant cells|
T lymphocytes, epithelioid macrophages, multinucleated giant cells, and fibroblasts are found in granulomas of tuberculosis and gummas of syphilis. Plasma cells are found only in gummas of syphilis, correlating with the antitreponemal antibodies found in most of these patients.
TSS is most often caused by colonization of the vaginal tampon with TSS toxinsecreting Staphylococcus aureus.
This woman has erysipelas, an infection of the dermis and subcutis, which is most likely caused by group A Streptococcus pyogenes. Group B S. agalactiae is a commensal in the vagina and may cause infection of neonates, such as meningitis or septicemia. S. epidermidis often infects prostheses, shunts, and catheters. S. saprophyticus is a rare cause of postcoital urinary tract infection in women. S. pneumoniae is an important cause of pneumonia, otitis media, and meningitis.
Enlargement of the lymphoid follicles in the Payers patches and ulceration of the overlying mucosa are found typically in infections caused by Salmonella typhi. Shigella infection causes hyperemia of the colonic mucosa and focal ulceration. Intestinal amebiasis presents in the form of deep ulcers that have laterally undermined borders and are described as flask-like. Clostridium difficile is the most common cause of pseudomembranous colitis. Vibrio cholerae causes secretory diarrhea without gross or microscopic changes in the intestinal mucosa.
This woman most likely has Lyme disease, a tick-borne spirochetal febrile disease that manifests with erythema migrans, arthritis, and neuromuscular disturbances. Brucella infections are usually acquired from farm animals, such as cows, pigs, sheep, and goats. Mycobacterium marinum infection is acquired from contaminated water in aquaria or swimming pools.
Aspergillus fumigatus is an opportunistic deep fungal infection that affects immunosuppressed persons. The hyphae of the fungi penetrate into the vessel wall, causing thrombi and infarcts. Other fungi listed here do not form branching hyphae and do not invade the vessel wall followed by thrombi.
|A.||herpes simplex virus|
|B.||human papilloma virus (HPV)|
Juvenile papillomatosis of the larynx is caused by (HPV), types 6 and 11.These types of HPV cause genital warts in the lower female genital tract; the transmission to the infant usually occurs during the delivery. Other viruses listed here do not form papillomas (warts).
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