Pathophysiology--NU545-- UNIT 7 --Chromosomes,
Cancers, Burns, and Shock QUESTIONS AND ANSWERS
100% CORRECT | LATEST UPDATE 2025
Characteristics of Down Syndrome - ANSWER low nasal bridge -epicanthal
folds -protruding tongue -low-set, flat ears -Poor muscle tone -short stature
Patho Down Syndrome - ANSWER About 97% of cases are caused by
nondisjunction during the formation of one of the parent's metes of during early
embryonic development. The remaining 3% result from translocations.
Cystic Fibrosis - ANSWER An autosomal recessive inherited disorder that is
associated with defective epithelial chloride ion transport. Defective gene is
located on chromosome 7.
Locus - ANSWER Each gene occupies a position along a chromosome
Alleles - ANSWER Genes at particular locus can take different forms (ie. They
can be composed of different nucleotides sequences).
Heterozygote - ANSWER In many loci the effects of one allele mask those of
another when the two are found together .
Dominant - ANSWER The allele whose effects are observable.
Recessive - ANSWER The allele whose effects are hidden.
,Carrier - ANSWER An individual who has a disease-causing allele but is
phenotypically normal.
Criteria for Autosomal Recessive - ANSWER 1. Males and females are affected
in equal proportions
2. Consanguinity is sometimes present
3. The disease is seen in siblings but usually not in their parents
4. On the average, one fourth of the offspring of carrier parents will be affected.
Risk factors for Diabetes Mellitus 2 - ANSWER Age, Obesity, hypertension,
physical inactivity, family Hx, Metabolic Syndrome, and Polycystic Ovary
syndrome.
Carcinoma - ANSWER Epithelial cell tumor.
-They originate from highly differentiated and polarized epithelial cells that form
structured sheets stabilized by multiple adherences to neighboring cells and to
basement membrane (an extracellular meshwork of collagens and other
connective tissue proteins) along the cells' basal surface.
Neovascularization - ANSWER New tumor-associated blood vessel growth or
angiogenesis. It offers malignant cells direct access into the venous blood, and
draining lymphatics can carry malignant cells to regional lymph nodes.
Adjuvant Chemotherapy - ANSWER Chemotherapy given after surgical excision
of a cancer with the goal of eliminating micrometastases.
, Induction chemotherapy - ANSWER Seeks to cause shrinkage or disappearance
of tumors.
Neoadjuvant chemotherapy - ANSWER Is given before localized treatment of
cancer (radiation or surgical).
DES - ANSWER A drug prescribed by physicians from 1938-1971 to prevent
spontaneous miscarriage in women with previous miscarriage.
-In 1971 it was identified as a transplacental chemical carcinogen b/c a small
percentage of the daughters of the women who took this drug developed
adenocarcinoma of the vagina and cervix.
Proto-oncogenes - ANSWER Genes which code for proteins that help to
regulate normal cell growth and differentiation. If mutated, proto-oncogenes
become oncogenes that help to turn normal cells into cancer cells. Changes
produced by specific oncogenes cause the cell cycle to become dysregulated.
N-myc - ANSWER An oncogene identified in pediatric cancer specifically in
neuroblastoma and glioblastoma. Tumor suppressor genes arise from genes that
normally suppress cancer cell proliferation but have lost their suppressor function,
thus leading to uncontrolled growth.
Pressure Ulcer - ANSWER Ischemic ulcers resulting from unrelieved pressure,
shearing forces, friction, and moisture
Decubitus Ulcer - ANSWER Refers to an ulcer or pressure sore that results
when an individual lies or sits in one position for a long time.
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