COMSAE 1 Exam
Questions and
Complete Solutions
Graded A+
Denning [Date] [Course title]
,Hyperimmunoglobulinemia E (Job syndrome) - Answer: An autosomal dominant condition
characterized by the triad of eczema, eosinophilia, and recurrent skin and pulmonary infections.
It is also associated with multiple connective tissue and skeletal abnormalities, including scoliosis,
hyperextensibility, pathologic fractures, retained primary dentition, craniosynostosis, and vascular
abnormalities
Nitroblue Tetrazolium Dye Test - Answer: It is used to detect the presence of NADPH oxidase, an
enzyme used by neutrophils 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.
What is the most common cause of gastritis with watery diarrhea before the age of 2-years? - Answer:
Rotavirus
Sarcoidosis - Answer: 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
CA19-9 is a tumor marker for - Answer: Pancreatic Cancer
Brocas Area - Answer: language area in the L inferior frontal Gyrus that helps to control speech
production.
Damage here causes non-fluent & poor repetition. Pt will have INTACT comprehension
Latissimus Dorsi m action - Answer: Extension, adduction, and internal rotation of the arm.
Innervated by the thoracodorsal nerve.
, Wernickes Area - Answer: 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.
Anti- Jo antibodies seen in? - Answer: Polymyositis
CTG Repeat - Answer: 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.
CAG repeat - Answer: Huntington Disease. AD, The repeat disorder is located on chromosome 4. 20-50
y/o. Affected individuals present with choreiform movements, aggression, depression, and dementia.
There is a decrease in the levels of (GABA) and acetylcholine in the brain leading to neuronal death via
N-methyl-D-aspartate receptor (NMDA-R) binding of glutamate, leading to glutamate toxicity.
CGG Repeat - Answer: Fragile X Syndrome
GAA Repeat - Answer: 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.
Alport Syndrome - Answer: presents with renal failure and hearing loss. It is caused by a defect in type
IV collagen found in basement membranes
Colles Fx - Answer: Fractures of the distal radius
Monteggia fx - Answer: Ulnar Fx w/ radial head dislocation
dorsal interossei - Answer: Abduct fingers
Questions and
Complete Solutions
Graded A+
Denning [Date] [Course title]
,Hyperimmunoglobulinemia E (Job syndrome) - Answer: An autosomal dominant condition
characterized by the triad of eczema, eosinophilia, and recurrent skin and pulmonary infections.
It is also associated with multiple connective tissue and skeletal abnormalities, including scoliosis,
hyperextensibility, pathologic fractures, retained primary dentition, craniosynostosis, and vascular
abnormalities
Nitroblue Tetrazolium Dye Test - Answer: It is used to detect the presence of NADPH oxidase, an
enzyme used by neutrophils 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.
What is the most common cause of gastritis with watery diarrhea before the age of 2-years? - Answer:
Rotavirus
Sarcoidosis - Answer: 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
CA19-9 is a tumor marker for - Answer: Pancreatic Cancer
Brocas Area - Answer: language area in the L inferior frontal Gyrus that helps to control speech
production.
Damage here causes non-fluent & poor repetition. Pt will have INTACT comprehension
Latissimus Dorsi m action - Answer: Extension, adduction, and internal rotation of the arm.
Innervated by the thoracodorsal nerve.
, Wernickes Area - Answer: 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.
Anti- Jo antibodies seen in? - Answer: Polymyositis
CTG Repeat - Answer: 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.
CAG repeat - Answer: Huntington Disease. AD, The repeat disorder is located on chromosome 4. 20-50
y/o. Affected individuals present with choreiform movements, aggression, depression, and dementia.
There is a decrease in the levels of (GABA) and acetylcholine in the brain leading to neuronal death via
N-methyl-D-aspartate receptor (NMDA-R) binding of glutamate, leading to glutamate toxicity.
CGG Repeat - Answer: Fragile X Syndrome
GAA Repeat - Answer: 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.
Alport Syndrome - Answer: presents with renal failure and hearing loss. It is caused by a defect in type
IV collagen found in basement membranes
Colles Fx - Answer: Fractures of the distal radius
Monteggia fx - Answer: Ulnar Fx w/ radial head dislocation
dorsal interossei - Answer: Abduct fingers
