1
Unit 2
Identify the types of genetic testing (carrier screening) and their uses for family
planning, disease screening, diagnosis and treatments.
Carrier screening can identify heterozygous carriers for many recessive diseases to
help make reproductive decisions. Amniocentesis can be done at 16 weeks gestation
and takes some of the amniotic fluid and tests it for chromosome abnormalities.
Chorionic villus sampling (CVS) can be done at 10 to 12 weeks gestation and is done
by extracting villous tissue from the chorion. Analysis of fetal DNA in maternal
circulation is done 6-8 weeks gestation by testing fetal cells in the mothers blood
stream.
Identify the chromosomes affected in patients with turner syndrome. What are the
clinical characteristics? How are these individuals treated?
Turner syndrome patients present with karyotype 45,X. Because there is no Y
chromosome people with Turners syndrome are always female. They are usually
sterile and have gonadal streaks rather than ovaries. Other features of the disorder
include short stature, webbing of the neck, widely spaced nipples, coarctation
(narrowing) of the aorta, edema of the feet in newborns, and sparse body hair.
Teenagers with Turner syndrome are treated with estrogen to promote the
development of secondary sexual characteristics and avoid osteoporosis. Human
growth hormone is sometimes administered to increase stature.
discuss the clinical manifestations and pathophysiology of cri du chat syndrome
This disease is caused by deletion of part of the short arm of chromosome 5. Cri du
chat means “cry of the cat” which describes with characteristic cry of the affected
child. Other symptoms include low birth weight, severe intellectual disability,
microcephaly, heart defects.
describe the process of adaptive immunity.
Adaptive immunity or acquired immunity has two arms Humoral immunity and cell-
mediated immunity. In humoral immunity, B cells originate in the bone marrow and
mature into plasma cells that produce antibodies. Antibodies destroy bacteria and
viruses and prevent them from entering host cells. In Cell-mediated immunity, T cells
respond directly to antigens and destroy target cells like virus infected cells, and
cancer cells through the secretion of lymphokines.
,2
Discuss the pathophysiology, clinical manifestations and treatment options for the
autoimmune condition of systemic Lupus erythematosus
Lupus is a chronic inflammatory, autoimmune disorder affecting the connective
tissues. Systemic Lupus affects multiple organs and can be fatal. In Lupus the body
produces antibodies against its own cells. The formed antigen-antibody complexes
can suppress the body’s normal immunity and damage tissues. In Lupus the body has
the ability to produce antibodies against many different tissue components, such as red
blood cells, neutrophils, platelets, lymphocytes, and almost any organ or tissue in the
body. Clinical manifestations include, fever, anorexia, weight loss, malaise, fatigue,
abdominal pain, nausea, vomiting, diarrhea, constipation, rashes, and polyarthralgia.
Patients may present with blood disorders like anemia, leukopenia, lymphopenia,
thrombocytopenia, and an elevated ESR. Women may report irregular menstruation or
amenorrhea. Most patient have joint involvement and may have Raynaud’s
phenomenon (intermittent, severe pallor of the fingers, toes, ears, or nose.)
Corticosteroids are the treatment of choice for systemic symptoms of Lupus.
Describe how vaccines activate the immune system and how they lead to immunity of
disease.
Vaccines introduce antigens that the body produces antibodies for. The B cells
develop antibodies for the antibodies then differentiate into memory B cells for a
faster response to the that antigen in the future.
What chromosomes are affected in person’s with Down Syndrome? What other
diseases may affect persons with Down Syndrome?
In Down Syndrome trisomy of the 21st chromosome occurs. Which is a result of
nondisjunction. Other diseases that may affect persons with Down Syndrome are
congenital heart defects, reduced ability to fight respiratory tract infections, and
increased susceptibility to leukemia. By age 40 they also develop Alzheimer’s
because one of the genes that cause Alzheimer’s is located on chromosome 2.
What are the cardinal signs of inflammation?
There are 5 cardinal signs of inflammation. Redness, Swelling, warmth, pain, and loss
of function.
, 3
Unit 3
Discuss the theories regarding the etiologies of Bell’s palsy. Which cranial nerve is
impacted?
Theories suggest there is an acute demyelination of nerves. The strongest supported
cause is reactivation of the herpes simplex virus isoform (HSV-1) and/or herpes zoster
virus (HZV). Viral infections can cause inflammation leading to compression of the
nerve and result in facial paralysis. Bell’s palsy is characterized by inflammation of
cranial nerve VII, on one side of the face.
Discuss the different abnormal motor responses associated with decreased
responsiveness in acute brain injuries. How can the abnormal motor responses help
the clinician to evaluate the level of dysfunction and the side of the brain that is
damaged? Provide 2 examples.
Decorticate posturing/rigidity: hemispheric damage above midbrain releasing
medullary and pontine reticulospinal systems.
Decerebrate posturing: associated with severe damage involving midbrain or upper
pons
Extensor responses in the upper extremities accompanied by flexion in the lower
extremities: injury of the pons.
Flaccid state with little or no motor response to stimuli: lower pons and upper medulla
injury.
Discuss the pathophysiology of bacterial meningitis. What are the common
manifestations? Discuss the possible damage to cranial nerves. Review figure 18.24 in
your McCance textbook.
Meningitis is inflammation of the brain and spinal cord involving the meningeal
membranes. Blood flow is reduced, tissues swell causing increased intracranial
pressure (ICP). Damage to cranial nerves:
II: papilledema, blindness. III, IV and VI: ptosis, visual field deficits, diplopia. V:
photophobia. VII: facial paresis. VIII: deafness, tinnitus, vertigo.
Unit 2
Identify the types of genetic testing (carrier screening) and their uses for family
planning, disease screening, diagnosis and treatments.
Carrier screening can identify heterozygous carriers for many recessive diseases to
help make reproductive decisions. Amniocentesis can be done at 16 weeks gestation
and takes some of the amniotic fluid and tests it for chromosome abnormalities.
Chorionic villus sampling (CVS) can be done at 10 to 12 weeks gestation and is done
by extracting villous tissue from the chorion. Analysis of fetal DNA in maternal
circulation is done 6-8 weeks gestation by testing fetal cells in the mothers blood
stream.
Identify the chromosomes affected in patients with turner syndrome. What are the
clinical characteristics? How are these individuals treated?
Turner syndrome patients present with karyotype 45,X. Because there is no Y
chromosome people with Turners syndrome are always female. They are usually
sterile and have gonadal streaks rather than ovaries. Other features of the disorder
include short stature, webbing of the neck, widely spaced nipples, coarctation
(narrowing) of the aorta, edema of the feet in newborns, and sparse body hair.
Teenagers with Turner syndrome are treated with estrogen to promote the
development of secondary sexual characteristics and avoid osteoporosis. Human
growth hormone is sometimes administered to increase stature.
discuss the clinical manifestations and pathophysiology of cri du chat syndrome
This disease is caused by deletion of part of the short arm of chromosome 5. Cri du
chat means “cry of the cat” which describes with characteristic cry of the affected
child. Other symptoms include low birth weight, severe intellectual disability,
microcephaly, heart defects.
describe the process of adaptive immunity.
Adaptive immunity or acquired immunity has two arms Humoral immunity and cell-
mediated immunity. In humoral immunity, B cells originate in the bone marrow and
mature into plasma cells that produce antibodies. Antibodies destroy bacteria and
viruses and prevent them from entering host cells. In Cell-mediated immunity, T cells
respond directly to antigens and destroy target cells like virus infected cells, and
cancer cells through the secretion of lymphokines.
,2
Discuss the pathophysiology, clinical manifestations and treatment options for the
autoimmune condition of systemic Lupus erythematosus
Lupus is a chronic inflammatory, autoimmune disorder affecting the connective
tissues. Systemic Lupus affects multiple organs and can be fatal. In Lupus the body
produces antibodies against its own cells. The formed antigen-antibody complexes
can suppress the body’s normal immunity and damage tissues. In Lupus the body has
the ability to produce antibodies against many different tissue components, such as red
blood cells, neutrophils, platelets, lymphocytes, and almost any organ or tissue in the
body. Clinical manifestations include, fever, anorexia, weight loss, malaise, fatigue,
abdominal pain, nausea, vomiting, diarrhea, constipation, rashes, and polyarthralgia.
Patients may present with blood disorders like anemia, leukopenia, lymphopenia,
thrombocytopenia, and an elevated ESR. Women may report irregular menstruation or
amenorrhea. Most patient have joint involvement and may have Raynaud’s
phenomenon (intermittent, severe pallor of the fingers, toes, ears, or nose.)
Corticosteroids are the treatment of choice for systemic symptoms of Lupus.
Describe how vaccines activate the immune system and how they lead to immunity of
disease.
Vaccines introduce antigens that the body produces antibodies for. The B cells
develop antibodies for the antibodies then differentiate into memory B cells for a
faster response to the that antigen in the future.
What chromosomes are affected in person’s with Down Syndrome? What other
diseases may affect persons with Down Syndrome?
In Down Syndrome trisomy of the 21st chromosome occurs. Which is a result of
nondisjunction. Other diseases that may affect persons with Down Syndrome are
congenital heart defects, reduced ability to fight respiratory tract infections, and
increased susceptibility to leukemia. By age 40 they also develop Alzheimer’s
because one of the genes that cause Alzheimer’s is located on chromosome 2.
What are the cardinal signs of inflammation?
There are 5 cardinal signs of inflammation. Redness, Swelling, warmth, pain, and loss
of function.
, 3
Unit 3
Discuss the theories regarding the etiologies of Bell’s palsy. Which cranial nerve is
impacted?
Theories suggest there is an acute demyelination of nerves. The strongest supported
cause is reactivation of the herpes simplex virus isoform (HSV-1) and/or herpes zoster
virus (HZV). Viral infections can cause inflammation leading to compression of the
nerve and result in facial paralysis. Bell’s palsy is characterized by inflammation of
cranial nerve VII, on one side of the face.
Discuss the different abnormal motor responses associated with decreased
responsiveness in acute brain injuries. How can the abnormal motor responses help
the clinician to evaluate the level of dysfunction and the side of the brain that is
damaged? Provide 2 examples.
Decorticate posturing/rigidity: hemispheric damage above midbrain releasing
medullary and pontine reticulospinal systems.
Decerebrate posturing: associated with severe damage involving midbrain or upper
pons
Extensor responses in the upper extremities accompanied by flexion in the lower
extremities: injury of the pons.
Flaccid state with little or no motor response to stimuli: lower pons and upper medulla
injury.
Discuss the pathophysiology of bacterial meningitis. What are the common
manifestations? Discuss the possible damage to cranial nerves. Review figure 18.24 in
your McCance textbook.
Meningitis is inflammation of the brain and spinal cord involving the meningeal
membranes. Blood flow is reduced, tissues swell causing increased intracranial
pressure (ICP). Damage to cranial nerves:
II: papilledema, blindness. III, IV and VI: ptosis, visual field deficits, diplopia. V:
photophobia. VII: facial paresis. VIII: deafness, tinnitus, vertigo.
