COMSAE 1 Exam Questions and
Answers
Hyperimmunoglobulinemia E (Job syndrome) - Answers -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 - Answers -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? - Answers -Rotavirus
Sarcoidosis - Answers -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 - Answers -Pancreatic Cancer
Brocas Area - Answers -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 - Answers -Extension, adduction, and internal rotation of the
arm.
Innervated by the thoracodorsal nerve.
,Wernickes Area - Answers -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? - Answers -Polymyositis
CTG Repeat - Answers -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 - Answers -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 - Answers -Fragile X Syndrome
GAA Repeat - Answers -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 - Answers -presents with renal failure and hearing loss. It is caused by
a defect in type IV collagen found in basement membranes
Colles Fx - Answers -Fractures of the distal radius
Monteggia fx - Answers -Ulnar Fx w/ radial head dislocation
dorsal interossei - Answers -Abduct fingers
Palmar Interossei - Answers -Adduct fingers
Pilocytic astrocytomas - Answers -A (CNS) neoplasms that are often cystic. They arise
from astrocytes and are 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
hydrocephalus or mass effect. Focal neurological deficits such as weakness, paralysis,
sensory deficits, cranial nerve palsies, and seizures may also occur. Physical
examination will reveal abnormal cerebellar functions such as rapid alternating
, movements, finger to nose testing, heel to shin, or positive Romberg's test with the eyes
open. CT or MRI will reveal a unilocular or multilocular cyst with an associated tumor
nodule. Histological evaluation will reveal the presence of Rosenthal fibers, which are
elongated corkscrew shaped eosinophilic fibers that stain positively for glial fibrillary
acidic protein (GFAP).
Choroid Plexus Papilloma - Answers -Benign neoplasms of the choroid plexus villi,
which are located in the brain ventricles and are normally responsible for the production
of cerebrospinal fluid. The choroid plexus lines the ventricular system of the brain, and
is found in the lateral, third, and fourth ventricles. Most commonly occur in the lateral
ventricles of children younger than 2-years-old. Choroid plexus papillomas result in an
increased production of cerebrospinal fluid, and can also obstruct cerebrospinal fluid
flow and reabsorption. This can lead to increased intracranial pressure, hydrocephalus,
and mass effect. Patients usually present with headache, nausea, vomiting, drowsiness,
ocular palsies of cranial nerves III and VI, papilledema, and visual disturbances. Have
been associated with von Hippel-Lindau and Li-Fraumeni syndromes
Craniopharyngioma - Answers -Benign tumors of the CNS located in the sella turcica
and most commonly occur in children aged 5 to 10-years-old. They arise from Rathke's
pouch, which is an embryologic structure that forms the infundibulum and anterior
pituitary gland. Patients will presence with symptoms of increased intracranial pressure,
such as headaches, projectile vomiting, papilledema, decrease in visual acuity, blurred
vision, or bitemporal hemianopsia. Bitemporal hemianopsia results from anterior
extension of the tumor that puts pressure onto the optic chiasm. They have both a solid
and cystic component, and microscopic examination will reveal abundant cholesterol
crystals in the fluid. Calcification of the tumor also occurs. Spillage of the cyst fluid into
the subarachnoid space can result in chemical arachnoiditis
Ependydomas - Answers -CNS tumors that arise within the ependymal lining of the
ventricular system of the brain. Most commonly occur in the roof of the fourth ventricle.
The mean age at diagnosis is 4-years-old. Patients will present with an insidious onset
of lethargy, headache, nausea, and vomiting due to increased intracranial pressure from
obstructive hydrocephalus that impedes cerebrospinal fluid flow through the foramina of
Luschka and Magendie. Physical examination will reveal papilledema. Histological
examination will reveal perivascular pseudorosettes, which are cells with a peripherally
located nuclei that form a halo around an empty lumen. Blepharoplasts, which are rod-
shaped intracytoplasmic eosinophilic inclusions, can also be found near the nucleus.
Medulloblastoma - Answers -Highly malignant CNS posterior fossa tumors that most
commonly affect children aged 9-years-old. The most common location is in the midline
of the cerebellum at the cerebellar vermis. Magnetic resonance images will reveal a
poorly defined, hypodense mass. Patients will present with cerebellar dysfunction,
which leads to gait abnormalities and truncal ataxia due to the midline location. Patients
can also have symptoms of increased intracranial pressure from a resultant
hydrocephalus, which leads to behavioral change, irritability, nausea, and vomiting that
is more common in the mornings due to the recumbent nature of sleeping that results in
Answers
Hyperimmunoglobulinemia E (Job syndrome) - Answers -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 - Answers -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? - Answers -Rotavirus
Sarcoidosis - Answers -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 - Answers -Pancreatic Cancer
Brocas Area - Answers -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 - Answers -Extension, adduction, and internal rotation of the
arm.
Innervated by the thoracodorsal nerve.
,Wernickes Area - Answers -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? - Answers -Polymyositis
CTG Repeat - Answers -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 - Answers -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 - Answers -Fragile X Syndrome
GAA Repeat - Answers -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 - Answers -presents with renal failure and hearing loss. It is caused by
a defect in type IV collagen found in basement membranes
Colles Fx - Answers -Fractures of the distal radius
Monteggia fx - Answers -Ulnar Fx w/ radial head dislocation
dorsal interossei - Answers -Abduct fingers
Palmar Interossei - Answers -Adduct fingers
Pilocytic astrocytomas - Answers -A (CNS) neoplasms that are often cystic. They arise
from astrocytes and are 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
hydrocephalus or mass effect. Focal neurological deficits such as weakness, paralysis,
sensory deficits, cranial nerve palsies, and seizures may also occur. Physical
examination will reveal abnormal cerebellar functions such as rapid alternating
, movements, finger to nose testing, heel to shin, or positive Romberg's test with the eyes
open. CT or MRI will reveal a unilocular or multilocular cyst with an associated tumor
nodule. Histological evaluation will reveal the presence of Rosenthal fibers, which are
elongated corkscrew shaped eosinophilic fibers that stain positively for glial fibrillary
acidic protein (GFAP).
Choroid Plexus Papilloma - Answers -Benign neoplasms of the choroid plexus villi,
which are located in the brain ventricles and are normally responsible for the production
of cerebrospinal fluid. The choroid plexus lines the ventricular system of the brain, and
is found in the lateral, third, and fourth ventricles. Most commonly occur in the lateral
ventricles of children younger than 2-years-old. Choroid plexus papillomas result in an
increased production of cerebrospinal fluid, and can also obstruct cerebrospinal fluid
flow and reabsorption. This can lead to increased intracranial pressure, hydrocephalus,
and mass effect. Patients usually present with headache, nausea, vomiting, drowsiness,
ocular palsies of cranial nerves III and VI, papilledema, and visual disturbances. Have
been associated with von Hippel-Lindau and Li-Fraumeni syndromes
Craniopharyngioma - Answers -Benign tumors of the CNS located in the sella turcica
and most commonly occur in children aged 5 to 10-years-old. They arise from Rathke's
pouch, which is an embryologic structure that forms the infundibulum and anterior
pituitary gland. Patients will presence with symptoms of increased intracranial pressure,
such as headaches, projectile vomiting, papilledema, decrease in visual acuity, blurred
vision, or bitemporal hemianopsia. Bitemporal hemianopsia results from anterior
extension of the tumor that puts pressure onto the optic chiasm. They have both a solid
and cystic component, and microscopic examination will reveal abundant cholesterol
crystals in the fluid. Calcification of the tumor also occurs. Spillage of the cyst fluid into
the subarachnoid space can result in chemical arachnoiditis
Ependydomas - Answers -CNS tumors that arise within the ependymal lining of the
ventricular system of the brain. Most commonly occur in the roof of the fourth ventricle.
The mean age at diagnosis is 4-years-old. Patients will present with an insidious onset
of lethargy, headache, nausea, and vomiting due to increased intracranial pressure from
obstructive hydrocephalus that impedes cerebrospinal fluid flow through the foramina of
Luschka and Magendie. Physical examination will reveal papilledema. Histological
examination will reveal perivascular pseudorosettes, which are cells with a peripherally
located nuclei that form a halo around an empty lumen. Blepharoplasts, which are rod-
shaped intracytoplasmic eosinophilic inclusions, can also be found near the nucleus.
Medulloblastoma - Answers -Highly malignant CNS posterior fossa tumors that most
commonly affect children aged 9-years-old. The most common location is in the midline
of the cerebellum at the cerebellar vermis. Magnetic resonance images will reveal a
poorly defined, hypodense mass. Patients will present with cerebellar dysfunction,
which leads to gait abnormalities and truncal ataxia due to the midline location. Patients
can also have symptoms of increased intracranial pressure from a resultant
hydrocephalus, which leads to behavioral change, irritability, nausea, and vomiting that
is more common in the mornings due to the recumbent nature of sleeping that results in
