· for Galactosemia, state the mode of inheritance, the specific metabolic pathway
affected, the enzyme defect, the clinical manifestations and treatment where
applicable.
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-autosomal recessive 1:60,000- lack of GALT enzyme which helps convert
galactose to glucose-metabolites from galactose accumulate in liver, eyes,
kidneys, spleen and cerebral cortex-first signs are vomiting and diarrhea
when given milk, then jaundice-removal of galactose from diet helps
severe complications
Compare and contrast carcinoma and sarcoma
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malignant in epithelium is a carcinomas
, malignant in connective tissue is a sarcoma
· For Tay-sach's Disease, state the mode of inheritance, the specific metabolic pathway
affected, the enzyme defect, the clinical manifestations and treatment where
applicable.
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causes gangliosidosis
- accumulation of gangliosides in brain
- gangliosides are complex molecules made up of glycosphingolipid and
sialic acid
- common in jewish + french canadian
- deficiency is a catabolic enzyme in the lysosome so gangliosides hang
around
- mainly affects neurons where gangliosides are metabolized
- its an unfolded protein response is involved in stimulating apoptosis
- molecular chaperone therapy
- acute disease has inset at 3-6 months
+ progressive weakness
+ blindness
+ severe neurologic dysfunctions
+ death in 2-3 years
· Describe the genetic basis of hemophilia A, state which clotting factor is missing and
give the clinical consequences of this abnormality. State an appropriate method for
treating this disorder.
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, Factor XIII deficiency in the coagulation pathway causes bleeding
problems
karyotypes changes
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+ changes in the number and appearance of chromosomes
+ specific changes have been identified in particular neoplasms
Describe how each of the effects of neoplasm on the host occurs:
Infection
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- patients are susceptible to infection due to:
+ blocked drainage
+ ulceration
+ immunosuppression
The genetic change seen in Down Syndrome is
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trisomy
, When the products of a process provide a signal that helps to down regulate the
process, this system is called a
metaplastic growth
cell cycle
neoplastic differentiation
negative feedback loop
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negative feedback loop
Inversion
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An inversion is a chromosome rearrangement in which a
segment of a chromosome is reversed end-to-end.
discuss the fundamental characteristics of all cancers
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affected, the enzyme defect, the clinical manifestations and treatment where
applicable.
Give this one a try later!
-autosomal recessive 1:60,000- lack of GALT enzyme which helps convert
galactose to glucose-metabolites from galactose accumulate in liver, eyes,
kidneys, spleen and cerebral cortex-first signs are vomiting and diarrhea
when given milk, then jaundice-removal of galactose from diet helps
severe complications
Compare and contrast carcinoma and sarcoma
Give this one a try later!
malignant in epithelium is a carcinomas
, malignant in connective tissue is a sarcoma
· For Tay-sach's Disease, state the mode of inheritance, the specific metabolic pathway
affected, the enzyme defect, the clinical manifestations and treatment where
applicable.
Give this one a try later!
causes gangliosidosis
- accumulation of gangliosides in brain
- gangliosides are complex molecules made up of glycosphingolipid and
sialic acid
- common in jewish + french canadian
- deficiency is a catabolic enzyme in the lysosome so gangliosides hang
around
- mainly affects neurons where gangliosides are metabolized
- its an unfolded protein response is involved in stimulating apoptosis
- molecular chaperone therapy
- acute disease has inset at 3-6 months
+ progressive weakness
+ blindness
+ severe neurologic dysfunctions
+ death in 2-3 years
· Describe the genetic basis of hemophilia A, state which clotting factor is missing and
give the clinical consequences of this abnormality. State an appropriate method for
treating this disorder.
Give this one a try later!
, Factor XIII deficiency in the coagulation pathway causes bleeding
problems
karyotypes changes
Give this one a try later!
+ changes in the number and appearance of chromosomes
+ specific changes have been identified in particular neoplasms
Describe how each of the effects of neoplasm on the host occurs:
Infection
Give this one a try later!
- patients are susceptible to infection due to:
+ blocked drainage
+ ulceration
+ immunosuppression
The genetic change seen in Down Syndrome is
Give this one a try later!
trisomy
, When the products of a process provide a signal that helps to down regulate the
process, this system is called a
metaplastic growth
cell cycle
neoplastic differentiation
negative feedback loop
Give this one a try later!
negative feedback loop
Inversion
Give this one a try later!
An inversion is a chromosome rearrangement in which a
segment of a chromosome is reversed end-to-end.
discuss the fundamental characteristics of all cancers
Give this one a try later!
