COMSAE 1 EXAM QUESTIONS AND ANSWERS WITH
COMPLETE SOLUTIONS VERIFIED LATEST 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-methyl-D-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.
Alport Syndrome
presents with renal failure and hearing loss. It is caused by a defect in type IV
collagen found in basement membranes
Colles Fx
Fractures of the distal radius
Monteggia fx
Ulnar Fx w/ radial head dislocation
, dorsal interossei
Abduct fingers
Palmar Interossei
Adduct fingers
Pilocytic astrocytomas
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
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
COMPLETE SOLUTIONS VERIFIED LATEST 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-methyl-D-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.
Alport Syndrome
presents with renal failure and hearing loss. It is caused by a defect in type IV
collagen found in basement membranes
Colles Fx
Fractures of the distal radius
Monteggia fx
Ulnar Fx w/ radial head dislocation
, dorsal interossei
Abduct fingers
Palmar Interossei
Adduct fingers
Pilocytic astrocytomas
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
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
