COMSAE 1 2026/2027 With Fully
Explained Studyguide
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
Explained Studyguide
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
