COMSAE 1 Exam Study Guide –
Practice Questions with Verified
Answers. GRADED A+. Latest
2026/2027 Update
Hyperimmunoglobulinemia E (Job syndrome)
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
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? Rotavirus
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
CA19-9 is a tumor marker for
Pancreatic Cancer
Brocas Area 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
Extension, adduction, and internal rotation of the arm.
Innervated by the thoracodorsal nerve.
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.
Anti- Jo antibodies seen in?
Polymyositis
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.
CAG repeat
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-methylD-aspartate
receptor (NMDA-R) binding of glutamate, leading to glutamate toxicity.
CGG Repeat
Fragile X Syndrome
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.
Practice Questions with Verified
Answers. GRADED A+. Latest
2026/2027 Update
Hyperimmunoglobulinemia E (Job syndrome)
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
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? Rotavirus
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
CA19-9 is a tumor marker for
Pancreatic Cancer
Brocas Area 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
Extension, adduction, and internal rotation of the arm.
Innervated by the thoracodorsal nerve.
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.
Anti- Jo antibodies seen in?
Polymyositis
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.
CAG repeat
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-methylD-aspartate
receptor (NMDA-R) binding of glutamate, leading to glutamate toxicity.
CGG Repeat
Fragile X Syndrome
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.
