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
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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).
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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 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 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 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.