Pathology Flashcards
Disease activity that increases in severity with each generation is called _______
anticipation
A single gene mutation that produces large effect is a ______ disorder
Mendelian
The majority of sex chromosome disorders are (X/Y)-linked
X-linked
The three defining features of neoplasia are:
- Unregulated
- Irreversable
- Monoclonal
A glycogen storage disease resulting from glucose-6-phosphates deficiency is called __________ disease
von Gierke disease
GM2 gangliosidosis or hexosaminidase A deficiency leading to ganglioside accumulation, cherry red macula and nerve damage is _________ disease
Tay-Sachs disease
Deficiency in clotting factor VIII, X-linked recessive disease called ___________
Hemophilia A
Qualitative defects in fibrillin gene FBN1, leads to systemic connective tissue problems, especially heart valves is called ______ _______
Marfan syndrome
Unusually tall, with long limbs and long, thin fingers and toes, bin laden, phleps and lincoln possibly had this.
Marfan syndrome
Deficiency of the sphingomyelinase enzyme leading to lysosomal accumulation of sphingomyelin will cause _________ disease (Marfan syndrome/Hurler Syndrome/Niemann-Pick disease)
Niemann-Pick disease
Deficiency of the sphingomyelinase enzyme leading to lysosomal accumulation of sphingomyelin will cause _________ disease
Niemann-Pick disease
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency
Hurler Syndrome
hepatomegaly, ecchymoses of skin, low blood glucose, glycogen not metabolized, glucose-6-phosphatase deficient
von Gierke disease
Glycogen accumulates in skeletal muscle due to a deficiency in muscle phosphorylase enzyme. muscle cramps ensue. Myoglobinuria in 1/2 the cases.
McArdle disease
Name 2 glycogen storage diseases
- McArdle disease
2. Pompe disease
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency
Hurler Syndrome
Name 2 glycogen storage diseases
- McArdle disease (muscle phosphorylase)
2. Pompe disease (α-1,4-Glucosidase)
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency (Marfan syndrome/Hurler Syndrome/von Gierke disease)
Hurler Syndrome
Hepatomegaly, ecchymoses of skin, low blood glucose, glycogen not metabolized, glucose-6-phosphatase deficient (Marfan syndrome/Hurler Syndrome/von Gierke disease)
von Gierke disease
Glycogen accumulates in skeletal muscle due to a deficiency in muscle phosphorylase enzyme. muscle cramps ensue. Myoglobinuria in 1/2 the cases. (Pompe disease/McArdle disease/von Gierke disease)
McArdle disease
Name 2 glycogen storage diseases
- McArdle disease (Muscle phosphorylase)
2. Pompe disease (α-1,4-Glucosidase)
Glycogen storage disease, (α-1,4-Glucosidase) glycogen stored in myocardium results in cardiomegaly
Pompe disease
Glycogen storage disease, (α-1,4-Glucosidase) glycogen stored in myocardium results in cardiomegaly _______ disease
Pompe disease
An aortic dissection is more likely with (Marfan/Down) syndrome
Marfan Syndrome
A single palmar flexion crease is characteristic of (Marfan/Down) syndrome
Down Syndrome
Who in our class has a single palmar flexion crease but not Down syndrome?
Will Nolan
Two or more populations of cells with different genotypes in one individual who has developed from a single fertilized egg is called ______
Mosaicism
Trisomy 18 is called (Turner/Klinefelter/Patau/Edwards) syndrome
Edwards syndrome
Trisomy 13 is called (Turner/Klinefelter/Patau/Edwards) syndrome
Patau syndrome
These two trisomies can both lead to rocker bottom feet (2)
- Edwards syndrome
2. Patau syndrome
karyotype 47XXY is called (Turner’s/Klinefelter/Patau/Edwards)
Klinefelter syndrome
Kayotype 45X is called
Turner’s/Klinefelter/Patau/Edwards
Turner syndrome
Webbed neck is associated with (Turner/Klinefelter/Patau/Edwards)
Turner syndrome
Fragile X is a trinucleotide repeat of (CGG/CAG/GAA)
CGG
Friederich’s ataxia is a trinucleotide repeat of (CGG/CAG/GAA)
GAA
Huntington’s is a trinucleotide repeat of (CGG/CAG/GAA)
CAG
FraGile X is a trinucleotide repeat of (CGG/CAG/GAA)
CGG
Friederich’s AtaxiA is a trinucleotide repeat of (CGG/CAG/GAA)
GAA
We can prove monoclonality of cancer in a female by the isoforms of the enzyme ______
G6PD
What is the difference between adenoma and carcinoma?
adenoma is benign
Aflatoxins from aspergillus in stored grains is associated with ________ carcinoma
hepatocellular
Alkylating agents, which may be used in chemotherapy is associated with ______ and ______ (cancers)
leukemia and lymphoma
Exposure to vinyl chloride such as manufacturing of PVC is associated with _________ (cancer)
angiosarcoma of the liver
Nasopharyngeal carcinoma, burkitt lymphoma and CNS lymphoma in AIDS are all associated with the _______ virus
EBV
Kaposi sarcoma is associated with ________ virus
HHV-8
HBV and HCV viruses are associated with __________ carcinoma
hepatocellular
Non-ionizing radiation tends to damage which body part?
skin
The three key systems disrupted by carcinogens are:
- proto-oncogenes
- tumor supressor genes
- regulators of apoptosis
BCL-2 is a (tyrosine kinases/apoptosis regulator)
apoptosis regulator
Over-expression of this growth factor can result in an autocrine loop leading to astrocytoma
PDGFB: platelet derived growth factor B
Over-expression of this growth factor receptor can lead to breast cancer
HER2/neu
A mutation in the tumor supressor gene _____ or _____ can lead to hereditary breast-ovarian cancer syndrome
BRCA-1 or BRCA-2
Medullary carcinoma of the thyroid (MTC) is associated with a mutation in the proto-oncogene ______, classified as familial MTC
RET
Which vitamin is important for maintaining epithelial surfaces (A/D/E/K)
A
Treatment for TB with isoniazids can lead to a vitamin _______ deficiency
B6: pyridoxine
What is the first step in metastasis?
Invasion of the basement membrane
Changes is a cancer cells characteristics is measured by ______
Grading
The size, extent and reach of a cancer cell is measured by its _______
Staging
