neoplasia and inherited and congenital diseases abnormalities of cell growth hyperplasia – number...
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Neoplasia
And Inherited and Congenital Diseases
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Abnormalities of Cell Growth
Hyperplasia – number of cells increases
Hypertrophy – size of cells increases
Metaplasia – size and numbers stay the same but the cell morphology changes (may be a pre-cancerous sign )
Neoplasia – a new type of cellular growth in a tissue, ie tumor
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Neoplasia may be: Benign = relatively harmless unless a
vital area is involved Malignant – cancerous ! They grow
and then spread throughout the body
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Benign vs MalignantBenign Well defined; often
encapsulated Appear similar to
cell of origin Does not spread to
other tissues Slow growth Usually not fatal
Malignant (Cancer) Very invasive with
vague borders Dedifferentiated –
appear to be very immature version of cell of origin
Metastasis – spreads via blood or lymph to other tissues/organs
Rapid growth High fatality rate
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Benign
Malignant
Note: Death is usually due to complications caused by cancer
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Neoplasm Nomenclature
Benign – tissue of origin + suffix –oma Benign tumor in glandular tissue =
adenoma Benign tumor in bone =
osteoma Benign tumor in fatty tissue =
lipoma
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Neoplasm Nomenclature (cont.)
Malignant: If tissue of origin is epithelial, than add suffix
–carcinoma– Malignancy in glandular tissue =
Adenocarcinoma If tissue of origin is bone, muscle, cartilage,
or connective tissue, add suffix –sarcoma– Malignancy in bone =
Osteosarcoma
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Nomenclature Exceptions Melanoma or Lymphoma –usually
malignant! Need to see adjective in front of term (benign or malignant)
Glioma – highly fatal malignancy of glial cells in the CNS
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Etiology of Malignant Neoplasia (Cancer)
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Neoplasia Treatment Benign – surgical resection Malignant:
Surgery: to remove all of tumor if feasible and if the tumor has not metastasized– Palliative surgery made be done for symptom
relief
Radiation Therapy – kills rapidly dividing cells– Can be done by penetration or implantation
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Neoplasia Treatment (cont.)
Malignant (cont.):Chemotherapy (often done in conjunction with
radiation therapy) Alkylating agents: inhibit tumor growth by by
reacting with DNA– Nitrogen mustard, Cytoxan
Antimetabolites: compete with tumor metabolites in producing nucleic acid– Methotrexate
Plant alkaloids: alter protein synthesis and nucleic acids– Vincristine
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Chemotherapy has many side effects!
Some patients find chemotherapy worse than the
cancer!
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Neoplasia Treatment (cont.)
Malignant: Hormone therapy – some hormones
inhibit malignant neoplasia while others stimulate it– Hormone therapy may involve removing
stimulating hormones or adding inhibiting hormones
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Diseases Present at Birth
Chromosomal aberrations
Genetic defects
Congenital defects
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Chromosomes
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Down’s Syndrome(Trisomy-21)
Slanted eyes with round face
Short, stocky stature Learning deficiency yet
extremely good disposition
Sub-par immune system so tend to be “sickly”
Usually develop Alzheimer’s if survive to age 60
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Klinefelter’s Syndrome(Trisomy-23 = XXY )
Male genitalia at birth
Secondary female traits during puberty– Gynecomastia– Pelvic girdle widens
Some learning impairment
Usually are sterile
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Turner’s Syndrome(Monosomy-23 = Xo)
Female genitalia at birth Minimal changes at
puberty– Lack of breast
development– Pelvis does not widen– Sterile
Very bright! Turner’s responds to
hormone therapy if diagnosed early enough!
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Autosomal Recessive Genetic Diseases
Genes line up in pairs in chromosomes– Each gene of the pair is referred to as an
allele Alleles may be dominant or recessive
– Dominant = always manifests no matter what other allele it is paired with
– Recessive = has to be paired with another recessive allele to manifest
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Possible Gene Pairings: Homozygous Dominant
– Both alleles are the same and dominant– The dominant trait is expressed
Homozygous Recessive– Both alleles are the same and recessive– The recessive trait is expressed
Heterozygote– A dominant allele and a recessive allele are paired
on a chromosome– The dominant trait is expressed but the recessive
allele is still carried
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Most autosomal recessive diseases
Occur when heterozygotes (“carriers”) mate
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Autosomal Recessive Diseases
Cystic Fibrosis– Recessive gene causes thick exocrine secretions
which impair lung and pancreatic function Sickle Cell Anemia
– Hemolytic anemia caused by fragile and abnormally shaped RBCs
Phenylketonuria (PKU)– Missing enzyme prevents metabolization
phenylalanine– Causes CNS damage to the newborn
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PKU
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Sex-Linked Inheritance
Usually the defective allele is transmitted from mother to son
on the X of the 23rd chromosome
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Example: Hemophilia
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Congenital Defects
Disease/defect present at birth but NOT due to genetics
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Congenital defects are caused by anything that
interferes with intrauterine development
Poor blood flow and oxygen delivery Maternal viral infection Drugs taken by the mother
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Thalidomide Baby
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A child born with a congenital defect…
Does NOT pass the defect on to his/her children
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An increase in the number of cells of a particular tissue producing an increase in the size of that tissue best defines:
A. Metaplasia
B. Hyperplasia
C. Hypertrophy
D. Neoplasia
E. Atrophy
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Hemophilia occurs when:A. Heterozygous parents produce homozygous offspringB. A homozygous recessive parent and a heterozygous parent produce homozygous recessive male or female offspringC. Several homozygous recessive genes occur in the offspringD. A heterozygous mother passes on the recessive trait via an X chromosome to a male offspringE. An abnormal division of chromosomes produces a male with XXY chromosome
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How does chronic inflammation differ from
acute?A. I and IV
B. II and III
C. I, III, and IV
D. II, III, and IV
E. I, II, III, and IV
I. Fibrous tissue is present along with the exudate
II. Eosinophils are present instead of neutrophils
III. Primary cells present are monocytes
IV. Less exudate is present
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What is the expected action of corticosteroids when they are used to treat inflammation?
A. Reduce edema caused by exudationB. Block histamine releaseC. Relieve painD. Promote blood clotting at the injuryE. Vasoconstriction to prevent bleeding
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Which of the following are malignant?
A. V only
B. II and III
C. I, IV, and V
D. II, III, and IV
E. I, III, IV, and V
I. Myosarcoma
II. Chondroma
III. Glioma
IV. Osteosarcoma
V. Bronchogenic carcinoma
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What abnormality occurs to cause Down’s Syndrome?
A. A male receives a recessive gene on the X chromosome
B. The cell fails to divide properly producing an extra chromosome on an autosomal pair
C. The cell fails to divide properly producing an extra X chromosome
D. The offspring receives two recessive genes from the parents
E. Damage to the embryo occurs during intra-uterine development
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Treatment that is palliative :
A. Cures the disease
B. Treats the symptoms and makes the patient comfortable
C. Prevents disease
D. Prevents complications and helps to cure the disease
E. Uses drastic measures as a last resort in an attempt to cure a disease
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Metastasis, the formation of secondary tumors in organs other than that in which the tumor originated, is a characteristic of:
A. Metaplasia
B. Benign neoplasia
C. Hyperplasia
D. Malignant neoplasia
E. Anaplasia
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When a person is stung by a bee, and there is a reaction where blood vessels dilate, blood pressure falls, and there is decreased blood flow to vital organs, what type of allergic reaction has occurred?
A. AnaphylacticB. DelayedC. Cytotoxic D. Cell – mediatedE. Immune complex hypersensitivity
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Following the initial injury that triggers inflammation, what is the first stage of the inflammatory response?
A. An increased number of monocytes and lymphocytes are produced and mobilized to the site of injury
B. Blood vessels in the area dilate to increase blood flow and their permeability increases
C. Eosinophils converge at the injury site and release histamine
D. Fibroblasts appear at the site and start laying down collagen
E. Macrophages appear and begin phagocytosis