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Neoplasia And Inherited and Congenital Diseases 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 Neoplasia may be: Benign = relatively harmless unless a vital area is involved Malignant – cancerous ! They grow and then spread throughout the body Benign vs Malignant Benign 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 Benign Malignant Note: Death is usually due to complications caused by cancer 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 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 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 Etiology of Malignant Neoplasia (Cancer) 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 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 Chemotherapy has many side effects! Some patients find chemotherapy worse than the cancer! 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 Diseases Present at Birth Chromosomal aberrations Genetic defects Congenital defects Chromosomes 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 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 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! 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 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 Most autosomal recessive diseases Occur when heterozygotes (“carriers”) mate 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 PKU Sex-Linked Inheritance Usually the defective allele is transmitted from mother to son on the X of the 23rd chromosome Example: Hemophilia Congenital Defects Disease/defect present at birth but NOT due to genetics 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 Thalidomide Baby A child born with a congenital defect… Does NOT pass the defect on to his/her children 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 Hemophilia occurs when: A. Heterozygous parents produce homozygous offspring B. A homozygous recessive parent and a heterozygous parent produce homozygous recessive male or female offspring C. Several homozygous recessive genes occur in the offspring D. A heterozygous mother passes on the recessive trait via an X chromosome to a male offspring E. An abnormal division of chromosomes produces a male with XXY chromosome How does chronic inflammation differ from acute? A. B. C. D. E. I and IV II and III I, III, and IV II, III, and IV I, II, III, and IV I. II. III. IV. Fibrous tissue is present along with the exudate Eosinophils are present instead of neutrophils Primary cells present are monocytes Less exudate is present What is the expected action of corticosteroids when they are used to treat inflammation? A. Reduce edema caused by exudation B. Block histamine release C. Relieve pain D. Promote blood clotting at the injury E. Vasoconstriction to prevent bleeding Which of the following are malignant? A. B. C. D. E. V only II and III I, IV, and V II, III, and IV I, III, IV, and V I. II. III. IV. V. Myosarcoma Chondroma Glioma Osteosarcoma Bronchogenic carcinoma 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 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 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 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. Anaphylactic B. Delayed C. Cytotoxic D. Cell – mediated E. Immune complex hypersensitivity 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