COMSAE 1
Hyperimmunoglobulinemia E (Job syndrome)
An autosomal dominant circumstance characterised with the aid of the triad of eczema,
eosinophilia, and recurrent pores and skin and pulmonary infections.
It is likewise associated with a couple of connective tissue and skeletal abnormalities, along with
scoliosis, hyperextensibility, pathologic fractures, retained number one dentition,
craniosynostosis, and vascular abnormalities
Nitroblue Tetrazolium Dye Test
It is used to come across the presence of NADPH oxidase, an enzyme utilized by neutrophils to
make oxygen radicals for killing micro organism. The check is advantageous while the enzyme
is present and now not faulty; the better the blue rating, the higher the cell is at reproducing
reactive oxygen species.
NADPH oxidase isn't affected in Job syndrome; consequently, the nitroblue tetrazolium dye take
a look at have to be fine. A negative take a look at, as in continual granulomatous ailment, will
show a loss of NADPH oxidase.
What is the maximum not unusual reason of gastritis with watery diarrhea before the age of
two-years?
Rotavirus
Sarcoidosis
It is characterized with the aid of noncaseating granulomas inside the interstitium and hilar
lymph nodes. Patients with this disease have erythema nodosum, eye problems, and commonly
hypercalcemia because of hypervitaminosis D. It has both obstructive and restrictive lung
ailment hallmarks
CA19-nine is a tumor marker for
Pancreatic Cancer
Brocas Area
language location within the L inferior frontal Gyrus that allows to manipulate speech production.
,Damage here causes non-fluent & bad repetition. Pt will have INTACT comprehension
Latissimus Dorsi m action
Extension, adduction, and internal rotation of the arm.
Innervated with the aid of the thoracodorsal nerve.
Wernickes Area
Located in the L superior Temporal gyrus. Damage to this place of the brain might result in
Wernicke’s aphasia. These patients can speak freely, however are unable to realise.
Anti- Jo antibodies visible in?
Polymyositis
CTG Repeat
Myotonic Muscular Dystrophy is a trinucleotide repeat expansion sickness. It is an expansion
trinucleotide inside the dystrophia myotonica-protein kinase (DMPK) gene. Defect of the gene
can cause myotonia (mentioned with the sustained draw close), muscle losing, frontal balding,
cataracts, testicular atrophy, and arrhythmias. It well-knownshows an autosomal dominant mode
of inheritance.
CAG repeat
Huntington Disease. AD, The repeat ailment is positioned on chromosome four. 20-50 y/o.
Affected people present with choreiform moves, aggression, despair, and dementia. There is a
lower inside the degrees of (GABA) and acetylcholine inside the mind main to neuronal death
thru N-methyl-D-aspartate receptor (NMDA-R) binding of glutamate, leading to glutamate
toxicity.
CGG Repeat
Fragile X Syndrome
, GAA Repeat
Friedriech Ataxia. The illness is placed on chromosome 9 within the gene that encodes frataxin,
an iron binding protein. Affected people may have an impairment in mitochondrial function.
There can be disorder inside the spinal wire tracts leading to muscle weak point and loss of
deep tendon reflexes, vibratory feel, and proprioception. Patients normally gift with a impressive
gait, severa falls, nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic
cardiomyopathy, as well as early life kyphoscoliosis.
Alport Syndrome
provides with renal failure and listening to loss. It is because of a defect in kind IV collagen
located in basement membranes
Colles Fx
Fractures of the distal radius
Monteggia fx
Ulnar Fx w/ radial head dislocation
dorsal interossei
Abduct arms
Palmar Interossei
Adduct arms
Pilocytic astrocytomas
A (CNS) neoplasms which can be regularly cystic. They arise from astrocytes and are typically
located in the cerebellar hemispheres and across the 0.33 ventricle. They have a totally
favorable prognosis and do not invade tissues. Patients will present with signs of increased
intracranial pressure due to a resultant hydrocephalus or mass effect. Focal neurological deficits
which includes weak spot, paralysis, sensory deficits, cranial nerve palsies, and seizures can
also arise. Physical examination will monitor bizarre cerebellar capabilities consisting of rapid
alternating movements, finger to nose checking out, heel to shin, or fine Romberg’s take a look
at with the eyes open. CT or MRI will reveal a unilocular or multilocular cyst with an associated
tumor nodule. Histological evaluation will display the presence of Rosenthal fibers, which might
be elongated corkscrew formed eosinophilic fibers that stain undoubtedly for glial fibrillary acidic
protein (GFAP).
Hyperimmunoglobulinemia E (Job syndrome)
An autosomal dominant circumstance characterised with the aid of the triad of eczema,
eosinophilia, and recurrent pores and skin and pulmonary infections.
It is likewise associated with a couple of connective tissue and skeletal abnormalities, along with
scoliosis, hyperextensibility, pathologic fractures, retained number one dentition,
craniosynostosis, and vascular abnormalities
Nitroblue Tetrazolium Dye Test
It is used to come across the presence of NADPH oxidase, an enzyme utilized by neutrophils to
make oxygen radicals for killing micro organism. The check is advantageous while the enzyme
is present and now not faulty; the better the blue rating, the higher the cell is at reproducing
reactive oxygen species.
NADPH oxidase isn't affected in Job syndrome; consequently, the nitroblue tetrazolium dye take
a look at have to be fine. A negative take a look at, as in continual granulomatous ailment, will
show a loss of NADPH oxidase.
What is the maximum not unusual reason of gastritis with watery diarrhea before the age of
two-years?
Rotavirus
Sarcoidosis
It is characterized with the aid of noncaseating granulomas inside the interstitium and hilar
lymph nodes. Patients with this disease have erythema nodosum, eye problems, and commonly
hypercalcemia because of hypervitaminosis D. It has both obstructive and restrictive lung
ailment hallmarks
CA19-nine is a tumor marker for
Pancreatic Cancer
Brocas Area
language location within the L inferior frontal Gyrus that allows to manipulate speech production.
,Damage here causes non-fluent & bad repetition. Pt will have INTACT comprehension
Latissimus Dorsi m action
Extension, adduction, and internal rotation of the arm.
Innervated with the aid of the thoracodorsal nerve.
Wernickes Area
Located in the L superior Temporal gyrus. Damage to this place of the brain might result in
Wernicke’s aphasia. These patients can speak freely, however are unable to realise.
Anti- Jo antibodies visible in?
Polymyositis
CTG Repeat
Myotonic Muscular Dystrophy is a trinucleotide repeat expansion sickness. It is an expansion
trinucleotide inside the dystrophia myotonica-protein kinase (DMPK) gene. Defect of the gene
can cause myotonia (mentioned with the sustained draw close), muscle losing, frontal balding,
cataracts, testicular atrophy, and arrhythmias. It well-knownshows an autosomal dominant mode
of inheritance.
CAG repeat
Huntington Disease. AD, The repeat ailment is positioned on chromosome four. 20-50 y/o.
Affected people present with choreiform moves, aggression, despair, and dementia. There is a
lower inside the degrees of (GABA) and acetylcholine inside the mind main to neuronal death
thru N-methyl-D-aspartate receptor (NMDA-R) binding of glutamate, leading to glutamate
toxicity.
CGG Repeat
Fragile X Syndrome
, GAA Repeat
Friedriech Ataxia. The illness is placed on chromosome 9 within the gene that encodes frataxin,
an iron binding protein. Affected people may have an impairment in mitochondrial function.
There can be disorder inside the spinal wire tracts leading to muscle weak point and loss of
deep tendon reflexes, vibratory feel, and proprioception. Patients normally gift with a impressive
gait, severa falls, nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic
cardiomyopathy, as well as early life kyphoscoliosis.
Alport Syndrome
provides with renal failure and listening to loss. It is because of a defect in kind IV collagen
located in basement membranes
Colles Fx
Fractures of the distal radius
Monteggia fx
Ulnar Fx w/ radial head dislocation
dorsal interossei
Abduct arms
Palmar Interossei
Adduct arms
Pilocytic astrocytomas
A (CNS) neoplasms which can be regularly cystic. They arise from astrocytes and are typically
located in the cerebellar hemispheres and across the 0.33 ventricle. They have a totally
favorable prognosis and do not invade tissues. Patients will present with signs of increased
intracranial pressure due to a resultant hydrocephalus or mass effect. Focal neurological deficits
which includes weak spot, paralysis, sensory deficits, cranial nerve palsies, and seizures can
also arise. Physical examination will monitor bizarre cerebellar capabilities consisting of rapid
alternating movements, finger to nose checking out, heel to shin, or fine Romberg’s take a look
at with the eyes open. CT or MRI will reveal a unilocular or multilocular cyst with an associated
tumor nodule. Histological evaluation will display the presence of Rosenthal fibers, which might
be elongated corkscrew formed eosinophilic fibers that stain undoubtedly for glial fibrillary acidic
protein (GFAP).
