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Cellular Response Flashcards

1
Q

What is pathologic hypertrophy

A

Enlargement of left ventricle due to chronic HTN

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2
Q

X-link recessive traits primarily effect…

A

Males

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3
Q

What is ND-PAE

A

Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure

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4
Q

What does prenatal alcohol exposure impact fetal brain development?

A

Disrupts neuronal proliferation and migration, impairs growth, decreases arterial blood flow to the fetus, impairs protein synthesis, and alters hormone levels.

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5
Q

What is spina bifida?

A

“split spine”

birth defect where the tissue on the left and right side of the back do not connect to cover and protect the spine

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6
Q

What is myelomeningocele

A

most severe, open spina bifida.
Spinal cord and surrounding meinges protrude out of an opening in the bony vertebrae and held together in a sack of skin, in severe cases can lack skin sack as well.

Associated with Arnold Chiari II malformation (results in a variety of symptoms related to the cerebellum and often resulting in hydrocephalus)

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7
Q

Meningocele

A

only the meninges (and not the spinal nerves) slipping into the gaps between the deformed vertebrae.

the spinal cord itself is not damaged, these individuals often do not experience the severe symptoms that are seen in myelomeningocele.

least common form

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8
Q

Spina bifida occulta

A

most common and most mild

the

spinal cord itself is not damaged, these individuals often do not experience the severe symptoms that are seen in myelomeningocele.

the spinal cord and surrounding tissue don’t protrude, nor is any of the tissue forced into the spaces in between the vertebrae. Since the spinal nerves are undamaged, people with this form of the disorder are often asymptomatic,

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9
Q

Why are younger patients more susceptible to infections?

A

They have fewer memory cells bc they have been exposed to fewer pathogens.

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10
Q

Why are older patients more susceptible to infections?

A

As we age our naive T cell population decreases. This creates a situation where T cells become less effective.

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11
Q

What is innate immunity?

A

Generic: skin and mucous membrane, cellular defenses that kick in when pathogens enter the body.

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12
Q

What is adaptive immunity?

A

Specific

Uses B-cells and T-cells

becomes memory cells (fights repeat offenders) or plasma cells (antibodies)

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13
Q

What is a naive B- or T-cell?

A

one that has not been exposed to an antigen (pathogen)

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14
Q

What do antibodies do?

A

neutralize viruses, create phagocytic cells

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15
Q

When is a helper T-cell used?

A

When antigen is presented by another immune cell

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16
Q

What do cytokines do?

A

activates B cells and a second population of T cells (cytotoxic T-cells) Cytotoxic cells kill infected cells by producing proteins that puncture the membrane and digest it

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17
Q

What do memory B and T cells do?

A

Make secondary immune responses stronger and more prolonged than primary response.

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18
Q

Marfan’s Syndrome

A

Mutation of fibrillin-1 gene on chromosome 15, causes fibrillin deficiency

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19
Q

Physical findings of Marfan’s

A

Tall, lanky appearance. Elongated arms and fingers. Heart murmur, pectus excavatum, ligament hypermobility, and kyphoscoliosis.

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20
Q

S/S of Marfan’s

A

Sudden dyspnea with pneumothorax.

Sudden chest pain with aortic dissection.

Lower back pain in tailbone with spinal dura involvement.

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21
Q

Marfan Diagnostic Testing

A

Genetic testing.

Echocardiogram, chest x-ray, aortic angiogram, and others that diagnose various conditions associated with genetic defects.

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22
Q

Marfan Treatment

A

Treatment is for symptoms and multiple conditions that result from the genetic defect.

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23
Q

What is Neurofibromatosis?

A

Mutation in the NF1 or NF2 gene. The NF gene is a tumor-suppressor gene that codes for the protein neurofibromin; decreased production of this protein results in tumors of various organs.

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24
Q

Neurofibromatosis S/S

A

Vision and hearing defects.

Back pain caused by scoliosis and spinal cord tumors.

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25
Neurofibromatosis Physical Findings
Characteristic café-au-lait spots. Scoliosis; bowing of the legs; tumors of the meninges, spinal cord, and skin. Macrocephaly.
26
Neurofibromatosis Diagnostics
Genetic testing. CT, MRI, neurological evaluation, acoustic and ophthalmological examinations because of various tumors.
27
Neurofibromatosis Treatment
Treatment is for symptoms and multiple conditions that result from the genetic defect.
28
Ehlers-Danlos Syndrome S/S
Easy bruising and poor wound healing.
29
Ehlers-Danlos Syndrome
Mutation the COL3A1 and COL3A2 genes that code for collagen. Results in collagen deficiency.
30
Ehlers-Danlos Syndrome Physical Assessment
Skin hyperelasticity. Joint hypermobility. Heart murmur of MVP.
31
Ehlers-Danlos Syndrome Diagnostic Testing
Genetic testing, MRI, CT, angiograms, and echocardiograms are used in diagnosis.
32
Ehlers-Danlos Syndrome Treatment
Treatment is for symptoms and multiple conditions that result from the genetic defect.
33
Cystic Fibrosis
Defects in the CFTR gene, which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the surface of epithelial cells. The CFTR gene locus is 7q31. Chiefly affected organs are the respiratory system and pancreas. Excessive mucus and thickened secretions form plugs.
34
Cystic Fibrosis S/S
Chronic cough, upper respiratory infections, and GI disturbances caused by pancreatitis, cirrhosis of liver, and gallstones.
35
Cystic Fibrosis Physical Assessment
Pulmonary wheezes, rhonchi, and excess mucus in sputum. Sinusitis, nasal polyps, abdominal pain caused by pancreatitis and cholecystitis, and cirrhosis of the liver. Rectal prolapse.
36
Cystic Fibrosis Diagnostics
Genetic testing. IRT, a pancreatic protein typically elevated in infants with CF. A sweat test called QPIT is used to collect sweat and analyze its chloride content. Chest x-ray, abdominal x-ray, chest CT, and abdominal ultrasound.
37
Cystic Fibrosis Treatment
Pancreatic enzyme supplements, bronchodilators, mucolytics, nebulizer treatments, antibiotics, and anti-inflammatory medications
38
Tay Sachs Disease
Mutation on chromosome 15. The lysosomal enzyme, hexosaminidase A, is severely deficient, which allows ganglioside to accumulate in tissues, particularly the brain and spinal cord.
39
Tay Sachs Disease S/S
Lethargy and cognitive impairment.
40
Tay Sachs Disease Physical Findings
Muscle flaccidity, poor suck reflex in infant. Lack of completing developmental milestones.
41
Tay Sachs Disease Diagnostics
Genetic testing. A characteristic “cherry red spot” is seen on the retina on ophthalmological examination.
42
Tay Sachs Disease Treatment
Treatment is for symptoms and multiple conditions that result from the genetic defect.
43
Neimann-Pick Disease
Defect at gene at 11p15.4 that causes deficiency of the lysosomal enzyme sphingomyelinase. Cells of various organs such as the brain, spleen, lymph nodes, lungs, and liver accumulate sphingomyelin.
44
Neimann-Pick Disease S/S
Gastrointestinal problems, enlarged abdomen, generalized lymphadenopathy, and motor dysfunction.
45
Neimann-Pick Disease Physical Findings
Splenomegaly, protuberant abdomen, fever, and generalized lymphadenopathy are present. The infant exhibits progressive motor dysfunction.
46
Neimann-Pick Disease Diagnostics
The diagnosis is made by biochemical assays for sphingomyelinase in a biopsy of the liver or bone marrow. Carriers can be detected by DNA testing.
47
Neimann-Pick Disease Treatment
Treatment is for symptoms and multiple conditions that result from the genetic defect.
48
Gaucher’s Disease
An autosomal-recessive disorder caused by a mutation in the gene 1q21 that codes for the enzyme glucocerebrosidase. Accumulation of glucocerebroside protein in the CNS, spleen, skeleton, and WBCs.
49
Gaucher’s Disease S/S
Enlarged spleen and liver. Bone lesions that may be painful. Weakness, numbness, and paresthesias. Easy bruising. Susceptibility to infection.
50
Gaucher’s Disease Physical Findings
Splenomegaly and hepatomegaly. Weakness of extremities. Lymphadenopathy, arthropathy, and distended abdomen. Brownish tint to the skin. Yellow fatty deposits on the sclera. Distended abdomen. Swelling of lymph nodes and adjacent joints.
51
Gaucher’s Disease Diagnostics
Cellular analysis of Gaucher’s disease: cells that have accumulated glucocerebroside are called Gaucher’s cells. They are found throughout the body in the spleen, liver, bone marrow, lymph nodes, tonsils, thymus, and Peyer’s patches in the GI tract.
52
Gaucher’s Disease Treatment
Replacement enzyme therapy is possible, and so a fairly long life expectancy is seen. Bone marrow transplantation is also done.
53
Wilson’s Disease
Autosomal-recessive inherited disorder of copper metabolism. Genetic defect is at 13q14, which is the copper-transporting adenosine triphosphatase gene (ATP7B) in the liver, causing excessive deposition of copper in the liver, brain, and other tissues.
54
Wilson’s Disease S/S
Jaundice caused by liver dysfunction. Grand mal seizures. Psychiatric symptoms. Joint pain and abdominal pain caused by kidney stones.
55
Wilson’s Disease Physical findings
Jaundice. Difficulty speaking. Excessive salivation. Ataxia, mask-like facies, clumsiness, muscle spasticity, rigidity, and flexion contractures. Joint pain of spine and large appendicular joints, such as knees, wrists, and hips.
56
Wilson’s Disease diagnostics
Kayser-Fleischer rings in the eye. Liver enzymes may be elevated. Osteopenia on radiological examination. Urolithiasis, hematuria, nephrocalcinosis, and proteinuria are common signs of kidney involvement. Serum ceruloplasmin levels and urine copper levels elevated, and liver biopsy shows copper. CT and MRI scans can show lesions in the brain.
57
Wilson’s Disease treatment
Chelating agents that bind copper. Liver transplantation
58
G6PD Deficiency
All mutations that cause G6PD deficiency are found at the gene locus Xq28. A metabolic enzyme involved in RBC metabolism. Some of the RBCs undergo hemolysis when the body is under stress.
59
G6PD Deficiency S/S
Jaundice with stresses to the body.
60
G6PD Deficiency Physical findings
Hemolysis that presents as jaundice.
61
G6PD Deficiency diagnosis
Blood levels of G6PD, bilirubin level, complete blood count, measuring hemoglobin in the urine, haptoglobin level, LDH test, methemoglobin reduction test, and reticulocyte count.
62
G6PD Deficiency treatment
Periods of hemolysis and jaundice do not require treatment and resolve on their own. Avoid drugs and foods that cause hemolysis. Blood transfusions may be necessary for severe hemolysis. Possibly removal of the spleen. Folic acid should be given because the body is in a state of high RBC synthesis.
63
Klinefelter’s Syndrome
Males commonly have a 47,XXY karyotype; however, an extra X or Y can be present in some variants of the disease.
64
Klinefelter’s Syndrome s/s
Decreased physical endurance. Osteoporosis. High risk of autoimmune disease. DM, MVP, osteopenia and osteoporosis, breast and testicular tumors, SLE, and RA.
65
Klinefelter’s Syndrome physical findings
Tall, lanky body proportions. Sparse or absent facial, axillary, and pubic hair. Decreased muscle mass and strength. Feminine distribution of adipose tissue.
66
Klinefelter’s Syndrome diagnostics
Genetic testing and hormone analysis can be done to confirm the diagnosis. Echocardiogram and bone density testing should be done with diagnosis caused by high prevalence of MVP and osteoporosis.
67
Klinefelter’s Syndrome treatment
Testosterone therapy and other treatment for symptoms and multiple conditions that result from the genetic defect.
68
Turner's Syndrome
A combination of disorders that results from a complete or partially missing X chromosome in the female so that the karyotype is 45,X or 45,XO.
69
Turner’s Syndrome s/s
Amenorrhea. Infertility. Hypothyroidism. Hypertension, coarctation of the aorta, and aortic valve abnormalities. Vision problems. Lack of energy and fatigue caused by hypothyroidism.
70
Turner’s Syndrome physical findings
Short stature. Webbed neck. Possible cyanosis or dyspnea related to heart problems. Lack of breast development. Abundance of pigmented nevi. Broad shield-shaped chest. Obesity. Small hips. Scoliosis. Cubitus valgus. Strabismus. Cataract. Amblyopia. Lymphedema at birth.
71
Turner’s Syndrome diagnostics
Genetic testing and hormone level evaluation. Echocardiogram, bone density, and bone age testing.
72
Turner’s Syndrome treatment
Estrogen therapy and growth hormone administration. Surgery may be necessary for cardiac defects. Patient should be treated symptomatically for all other effects of the disease.
73
What risk factors may contribute to spina bifida?
obesity, diabetes, folic acid deficiency
74
What is the role of helper T cells?
Produce cytokines, which help active B cells and cytotoxic T cells
75
What is the role of a cytotoxic T cell?
Binds to infected body cells and produces substances that kill infected cells.
76
What is a chemokine?
proteins that attract leukocytes to the endothelium at the area of injury
77
What is heterozygous?
gene from mother differs from the one from the father
78
What is homozygous?
inheriting the same gene trait from both parents

Patho (14 decks)

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