COMSAE 1
Study online at https://quizlet.com/_82iqw8
1. Hyperim- An autosomal dominant condition characterized by the triad of eczema,
munoglobuline- eosinophilia, and recurrent skin and pulmonary infections.
mia E (Job
syndrome) It is also associated with multiple connective tissue and skeletal abnormalities,
including scoliosis, hyperextensibility, pathologic fractures, retained primary den-
tition, craniosynostosis, and vascular abnormalities
2. Nitroblue Tetra- It is used to detect the presence of NADPH oxidase, an enzyme used by neutrophils
zolium Dye Test to make oxygen radicals for killing bacteria. The test is positive when the enzyme
is present and not defective; the higher the blue score, the better the cell is at
reproducing reactive oxygen species.
NADPH oxidase is not affected in Job syndrome; thus, the nitroblue tetrazolium
dye test should be positive. A negative test, as in chronic granulomatous disease,
will show a lack of NADPH oxidase.
3. What is the most Rotavirus
common cause
of gastritis with
watery diarrhea
before the age of
2-years?
4. Sarcoidosis It is characterized by noncaseating granulomas in the interstitium and hilar lymph
nodes. Patients with this disorder have erythema nodosum, eye problems, and
commonly hypercalcemia as a result of hypervitaminosis D. It has both obstructive
and restrictive lung disease hallmarks
, COMSAE 1
Study online at https://quizlet.com/_82iqw8
5. CA19-9 is a tumor Pancreatic Cancer
marker for
6. Brocas Area language area in the L inferior frontal Gyrus that helps to control speech produc-
tion.
Damage here causes non-fluent & poor repetition. Pt will have INTACT compre-
hension
7. Latissimus Dorsi Extension, adduction, and internal rotation of the arm.
m action
Innervated by the thoracodorsal nerve.
8. Wernickes Area Located in the L superior Temporal gyrus. Damage to this area of the brain would
lead to Wernicke's aphasia. These patients can speak freely, but are unable to
comprehend.
9. Anti- Jo antibod- Polymyositis
ies seen in?
10. CTG Repeat Myotonic Muscular Dystrophy is a trinucleotide repeat expansion disease. It is an
expansion trinucleotide within the dystrophia myotonica-protein kinase (DMPK)
gene. Defect of the gene can lead to myotonia (noted with the sustained grasp),
muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmias. It
exhibits an autosomal dominant mode of inheritance.
11. CAG repeat Huntington Disease. AD, The repeat disorder is located on chromosome 4. 20-50
y/o. Affected individuals present with choreiform movements, aggression, de-
, COMSAE 1
Study online at https://quizlet.com/_82iqw8
pression, and dementia. There is a decrease in the levels of (GABA) and acetyl-
choline in the brain leading to neuronal death via N-methyl-D-aspartate receptor
(NMDA-R) binding of glutamate, leading to glutamate toxicity.
12. CGG Repeat Fragile X Syndrome
13. GAA Repeat Friedriech Ataxia. The defect is located on chromosome 9 in the gene that encodes
frataxin, an iron binding protein. Affected individuals will have an impairment
in mitochondrial function. There will be dysfunction within the spinal cord tracts
leading to muscle weakness and loss of deep tendon reflexes, vibratory sense, and
proprioception. Patients typically present with a staggering gait, numerous falls,
nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy, as
well as childhood kyphoscoliosis.
14. Alport Syndrome presents with renal failure and hearing loss. It is caused by a defect in type IV
collagen found in basement membranes
15. Colles Fx Fractures of the distal radius
16. Monteggia fx Ulnar Fx w/ radial head dislocation
17. dorsal interossei Abduct fingers
18. Palmar Interos- Adduct fingers
sei
19. Pilocytic astrocy- A (CNS) neoplasms that are often cystic. They arise from astrocytes and are
tomas commonly located in the cerebellar hemispheres and around the third ventricle.
They have a very favorable prognosis and do not invade tissues. Patients will
present with symptoms of increased intracranial pressure due to a resultant
Study online at https://quizlet.com/_82iqw8
1. Hyperim- An autosomal dominant condition characterized by the triad of eczema,
munoglobuline- eosinophilia, and recurrent skin and pulmonary infections.
mia E (Job
syndrome) It is also associated with multiple connective tissue and skeletal abnormalities,
including scoliosis, hyperextensibility, pathologic fractures, retained primary den-
tition, craniosynostosis, and vascular abnormalities
2. Nitroblue Tetra- It is used to detect the presence of NADPH oxidase, an enzyme used by neutrophils
zolium Dye Test to make oxygen radicals for killing bacteria. The test is positive when the enzyme
is present and not defective; the higher the blue score, the better the cell is at
reproducing reactive oxygen species.
NADPH oxidase is not affected in Job syndrome; thus, the nitroblue tetrazolium
dye test should be positive. A negative test, as in chronic granulomatous disease,
will show a lack of NADPH oxidase.
3. What is the most Rotavirus
common cause
of gastritis with
watery diarrhea
before the age of
2-years?
4. Sarcoidosis It is characterized by noncaseating granulomas in the interstitium and hilar lymph
nodes. Patients with this disorder have erythema nodosum, eye problems, and
commonly hypercalcemia as a result of hypervitaminosis D. It has both obstructive
and restrictive lung disease hallmarks
, COMSAE 1
Study online at https://quizlet.com/_82iqw8
5. CA19-9 is a tumor Pancreatic Cancer
marker for
6. Brocas Area language area in the L inferior frontal Gyrus that helps to control speech produc-
tion.
Damage here causes non-fluent & poor repetition. Pt will have INTACT compre-
hension
7. Latissimus Dorsi Extension, adduction, and internal rotation of the arm.
m action
Innervated by the thoracodorsal nerve.
8. Wernickes Area Located in the L superior Temporal gyrus. Damage to this area of the brain would
lead to Wernicke's aphasia. These patients can speak freely, but are unable to
comprehend.
9. Anti- Jo antibod- Polymyositis
ies seen in?
10. CTG Repeat Myotonic Muscular Dystrophy is a trinucleotide repeat expansion disease. It is an
expansion trinucleotide within the dystrophia myotonica-protein kinase (DMPK)
gene. Defect of the gene can lead to myotonia (noted with the sustained grasp),
muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmias. It
exhibits an autosomal dominant mode of inheritance.
11. CAG repeat Huntington Disease. AD, The repeat disorder is located on chromosome 4. 20-50
y/o. Affected individuals present with choreiform movements, aggression, de-
, COMSAE 1
Study online at https://quizlet.com/_82iqw8
pression, and dementia. There is a decrease in the levels of (GABA) and acetyl-
choline in the brain leading to neuronal death via N-methyl-D-aspartate receptor
(NMDA-R) binding of glutamate, leading to glutamate toxicity.
12. CGG Repeat Fragile X Syndrome
13. GAA Repeat Friedriech Ataxia. The defect is located on chromosome 9 in the gene that encodes
frataxin, an iron binding protein. Affected individuals will have an impairment
in mitochondrial function. There will be dysfunction within the spinal cord tracts
leading to muscle weakness and loss of deep tendon reflexes, vibratory sense, and
proprioception. Patients typically present with a staggering gait, numerous falls,
nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy, as
well as childhood kyphoscoliosis.
14. Alport Syndrome presents with renal failure and hearing loss. It is caused by a defect in type IV
collagen found in basement membranes
15. Colles Fx Fractures of the distal radius
16. Monteggia fx Ulnar Fx w/ radial head dislocation
17. dorsal interossei Abduct fingers
18. Palmar Interos- Adduct fingers
sei
19. Pilocytic astrocy- A (CNS) neoplasms that are often cystic. They arise from astrocytes and are
tomas commonly located in the cerebellar hemispheres and around the third ventricle.
They have a very favorable prognosis and do not invade tissues. Patients will
present with symptoms of increased intracranial pressure due to a resultant
