\COMPLETE QUESTIONS AND ACCURATE DETAILED
ANSWERS \VERIFIED 100% GRADED A+\Physio-Patho
Basis of Advanced Nsg, University of South Alabama
The most well known aneuploidy (those that do not
contain a multiple of 23 chromosomes) in an
autosome is trisomy of the 21st chromosome. J.
Langdon Down 1st described the the disease in 1866.
Describe the specific
Down syndrome is seen in 1 in 800 births. IQ's between
chromosomal abnormality
25 and 70. Facial features: low nasal bridge, epicentral
responsible for Down
folds, protruding tongue, and flat low set ears.
Syndrome
Congenital heart defects in 1/3 to 1/2 of live born
children. Decreased ability to fight respiratory
conditions and an increased susceptibility to
leukemia. By age 40 symptoms resembling Alzheimer
develop. 97% of Down Syndrome's cases are caused
by nondisjunction during the formation of one of the
parent's gametes or during early embryonic
development. 3% from translocations. Risk increases
with maternal age.
Causes of mental retardation. Chromosomal abnormalities.
Like autosomal dominant diseases, those caused by
autosomal recessive alleles are rare in populations,
although the number of carriers for recessive diseases
can be high. The most common lethal recessive
disease in white children, cystic fibrosis, occurs in
What gene abnormality
about 1 in 2500 births. Approximately 1 in 25 whites
causes cystic fibrosis?
carries one copy of an allele that can cause cystic
fibrosis (see Chapter 36). Because an individual must
be homozygous for a recessive allele to express
, thedisease, the carriers are phenotypically normal.
Because most recessive alleles are maintained
innormal carriers, they are able to survive in the
population from one generation to the next. As with
many autosomal dominant diseases, many autosomal
recessive diseases are characterized by delayed age
of onset, incomplete penetrance, and variable
expressivity.
Autosomal recessive diseases occur when both
parents are carriers of the same disease and their
How is a recessive gene
inherited? child inherits an altered gene from each of them.
Children of carrier parents have:A 25% chance of
inheriting two altered genes and developing the
disease.
An important risk factor is TCF7L2 which encodes a
transcription factor involved in the secretion of
insulin. Another association has been found between
Risk factors for DM II; why is a common allele of the gene that incomes
obesity an important risk peroxisome proliferator-activated receptor gamma
factor for DM II? (PPAR-y), a nuclear receptor that is involved in
adipocyte differentiation and glucose metabolism. This
receptor is the target of thiazolidinediones (TZD's) a
class of drugs commonly used to increase insulin
sensitivity in those with type 2 diabetes. The 2 most
important risk factors for DM II are positive family
history and obesity; the latter increases insulin
resistance.
Definition of carcinoma Cancer arising from in epithelial cells
cells gain access to circulation through new tumor-
associated blood vessels or angiongesis
How do cancer cells gain Mobile tumor cells are able to enter circulation (leakly
access to the circulation? newsly made blood vessels) once in circulation, cells
must be able to withstand the physiological stress of
travel in the blood and lymphatic circulation
Sometimes they bind to blood platelets=protect themselves
, Adjuvant chemotherapy is an approach to fighting
cancer that combines different forms of healing.
Chemotherapy and radiation, or chemotherapy and
surgery are used together. Usually the chemotherapy
will be used after all of the known and visible cancer
has been removed surgically or with radiation. Adjuvant
chemotherapy aims to destroy hidden cancer cells
that remain but are undetectable.
What is adjuvant
chemotherapy? Adjuvant means additional. Adjuvant chemotherapy is
given to patients after primary treatment, when the
doctor thinks there is a high risk the cancer will return.
After a primary treatment of surgery or radiation,
adjuvant chemotherapy reduces the risk of recurrence.
The elimination of undetectable microscopic cancer cells
that may have traveled to other parts of the body is
the goal of adjuvant chemotherapy.
When adjuvant chemotherapy doesn't result in a full
cure it does make the intervals between a cancer
relapse longer. Adjuvant chemotherapy typically
begins within three to five weeks of the surgical
removal of the cancer and has different treatment
lengths depending on the cancer. For breast cancer, the
adjuvant chemotherapy is administered for three to nine
months. In the case of colon cancer, treatment rarely
last more than six months.
, Childhood and adolescent cancers are often associated
with specific peak times of physical growth and may
Most common time childhood occur as a consequence altered cellular regulatory
cancers are diagnosed? mechanisms at a given time in the child or adolescents
development. Embryonal tumors most often develop
before the age of 5 years, acute lymphoblastic leukemia
occurs most often in younger children, and bone
tumors occur most often in adolescents.
Diethylstibestrol (DES) which was prescribed by
physicians to treat spontaneous miscarriage. Identified
DES exposure prenatally
as a transplacental chemical carcinogen because a
small percentage of the daughters of the women
who took DES developed adenocarcinomas or the
vagina and cervix.
Most childhood and adolescent cancers arise from the
Where do most childhood mesodermal germ layer that gives rise to the connective
cancers arise from? tissue, bone, cartilage, muscle, blood, blood vessels,
gonads, kidney, and the lymphatic system. Leukemia
and brain tumors account for 61% of childhood
cancers.
Oncogenes and tumor suppressor genes are
associated with the development of childhood cancer.
Proto-oncogenes code for proteins that help regulate
normal cell growth and differentiation. If mutated,
proto-oncogenes become oncogenes that help to
Pediatric cancers and the N-
turn normal cells into cancer cells. Changes
myc oncogene.
produced by specific oncogenes cause the cell cycle
to become dysregulated. An example of an oncogene
identified in pediatric cancer is N-myc,which is involved
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. Some
childhood cancers identified with tumor-suppressor
genes include osteosarcoma, leukemia,
rhabdomyosarcoma, retinoblastoma, and Wilms