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COMSAE 1:- Questions & Proper Answers
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COMSAE 1:- Questions & Proper Answers
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COMSAE 1:- Questions & Proper Answers Hyperimmunoglobulinemia E (Job syndrome) Correct Ans - 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 Correct Ans - 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? Correct Ans - Rotavirus
Sarcoidosis Correct Ans - 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 Correct Ans - Pancreatic Cancer
Brocas Area Correct Ans - 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 Correct Ans - Extension, adduction, and internal rotation of the arm. Innervated by the thoracodorsal nerve.
Wernickes Area Correct Ans - 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? Correct Ans - Polymyositis
CTG Repeat Correct Ans - 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 Correct Ans - 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 Correct Ans - Fragile X Syndrome
GAA Repeat Correct Ans - 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 Correct Ans - presents with renal failure and hearing loss. It is caused by a defect in type IV collagen found in basement membranes
Colles Fx Correct Ans - Fractures of the distal radius Monteggia fx Correct Ans - Ulnar Fx w/ radial head dislocation
dorsal interossei Correct Ans - Abduct fingers
Palmar Interossei Correct Ans - Adduct fingers
Pilocytic astrocytomas Correct Ans - 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 Correct Ans - 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 Correct Ans - 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
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