clinicals

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cwhusker
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172680
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clinicals
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2012-11-14 22:56:13
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clinicals
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  1. Multiple sclerosis
    • autoimmune reaction against myelin and myelin producing cells (apoptosis of the oligodendrocytes)
    • + L'Hermitte's sign, numbness, parasthesis, blurred vision and ocular pain
    • can be remitting or primary, activation of CD4
    • young females, 20-45
    • demyelinating plaques that contain CD4, CD8 and macrophages, well demarcated, grey matter, located in the peraventricular white matter
    • oligoclonal bands on electrophoresis
  2. segmental demyelination
    • damage of schwann cell, loss of myelin at a single internode
    • transformation of endoneurial cells into schwann cells
    • concentric layers of schwann cells around the axons (onion bulbs)
  3. wallerian degeneration
    • sequence of events after traumatic transection of a nerve
    • phagocytosis of the destroyed myelin by schwann cells and macrophages
  4. guillian barre syndrome
    • inflammation and demyelination of spinal motor nerve roots and peripheral nerves
    • M>F, 20-45
    • initial weakness of distal limbs and advancing weaknes of the proximal limbs
    • ascending paralysis 
    • preceding infection or vaccination (CMV, EBV)
    • mononuclear infiltration
    • segmental demyelination and remyelination
  5. charcot-marie tooth disease
    • hereditary motor and sensory neuropathy
    • segmental trisomy - PMP22
    • repetitive demyelination and remyelination
    • multiple onion bulbs (palpable hypertrophic neuropathy)
    • peroneal muscular dystrophy (atrophy of the calf)
    • pes cavus (hollow foot)
  6. diabetic neuropathy
    • senosory and motor neuropathy of distal extremities
    • decreased pain senstation - trauma of legs - poorly healed ulcers, osmotic damage to schwann cells
    • injury of endoneural arterioles - thickening of arterial wall - causes reduced blood flow and poor wound healing
  7. traumatic neuroma
    • misalignment of individual nerve fascicles
    • random proliferation of axons, schwann cells, fibroblasts (bundles of collagen)
  8. myasthenia gravis
    • autoimmune disorder affecting the post-synaptic receptors of the neurmuscular junction
    • F>M, 20-45
    • primarily the shoulder musculature and eyelids with progressive weakness related to use
  9. amylotrophic lateral sclerosis (ALS)
    • autoimmune disease of the motor neuron
    • SOD1 mutation
    • M>F 20-60
    • both UMN and LMN with swallowing and weakness difficulties in the small muscles of the hands
    • tx - riluzole
  10. Duchenne muscular dystrophy
    • complete loss of dystrophin
    • pelvic girdle
    • pseudohypertrophy of the calf
    • increased # of internal nuclei
    • endomysial fibrosis
    • replacement of muscle with fat and CT
  11. Becker muscle dystrophy
    • reduced amount of dystrophin
    • milder than DMD
    • normal life span
  12. myotonic muscular dystrophy
    • myotonia - sustained involuntary muscle contraction
    • ring fibers - muscle fibers with sarcomeres oriented perpendicular to the axis
    • internalization of nuclei
  13. dermatomyositis
    • non-infectious inflammatory myopathy
    • inflammation of muscle and skin
    • scaling erythemia on knuckles, elbows and knees, SLE-like rash
    • proximal muscle weakness, dysphagia
    • Ab and complement mediated immune reaction against capillaries
    • reduction in intramuscular capillaries-could cause the atrophy
    • perifascicular atrophy of muscle fibers-around the outside
  14. polymyositis
    • chronic inflammation of the muscles skin not affected
    • proximal muscles
    • heavy mononuclear infiltrate within the endomysium and muscle fibers
    • satelite cell proliferation
    • no vascular injury
    • scattered necrosis and regenertion of muscle fibers
  15. inclusion body myositis
    • distal muscle involvement, inflammation of muscles
    • autoimmune reaction involving CTLs
    • abnormal folding
    • intracellular vacuoles
    • intracellular amyloid and/or tau protein
  16. schwannoma
    • solid benign tumor
    • NF2 gene mutation
    • compression of adjacent structures involved
    • truly encapsulated and can be separated from the nerve
    • Antoni A - nuclear palisading, verocay bodies
    • Antoni B - myxomatosis, micocytes
    • no axons
  17. neurofibroma
    • benign sheath tumor
    • solitary - peripheral nerves, sporadic or NF1
    • plexiform - large nerve trunks, only NF1
    • non encapsulated, cannot be separated
    • serpentine pattern
    • enbedded in nerve trunks
    • no verocay bodies
  18. malignant peripheral nerve sheath tumor
    • highly malignant, developes from plexiform neurofibroma in NF1
    • infiltrative growth along the parent nerve and into adjacent soft tissues
    • no axons
    • lisch nodules - pigmented nodules in the iris
    • multiple cafe-au-lait spots - brown spots on the skin
    • bilateral acoustic neuroma - DIAGNOSTIC
  19. syringomyelia
    • formation of fluid filled cavities within the spinal cord, since the increased fluid is in the central canal the spinothalamic tract is often damaged and the pt will have impaired pain and temp sensation
    • no motor deficit
    • can spread to involve the anterior horns and damage the lower motor neurons (muscle atrophy, weakness
    • can spread to lateral horns - lead to horner's syndrome (sympathetic chain)
  20. hirshprung's disease
    • enteric ANS is missing from the bowel wall
    • improper and ineffective peristalsis and results in large intestine and obstruction
  21. Riley-Day syndrome
    • rare recessive inherited mutation of the gene in chr 9
    • affects the development and function of nerves
    • eastern european jews
    • hypotonia
    • lack of tears, defective temp control, intestinal dysfunction
  22. sticky eye
    staph aureus
  23. pink eye
    • adenovirus
    • naked
    • 8, 19 - epidemic
    • 3,4,7 - swimming pool
  24. hemorrhagic conjuctivitis
    • coxsackie A24 and enterovirus 70
    • extremely contagious, and causes epidemics
    • severe pain
  25. bitemporal hemianopsia
    loss of peripheral vision by pituitary compression of the optic chiasm
  26. pituitary adenomas
    • prolactinoma is the most common
    • g protein mutaitons - GNAS1
    • mutation of PKA, cyclin D1, HRAS, menin
  27. MEN 1 syndrome (multiple endocrine neoplasia)
    • gene mutation in MEN gene codes for menin (a tumor suppressor gene), alterations in this gene can cause uncontrolled cell growth
    • 3P's
    • parathyroid hyperplasia - almost all
    • pancreatic endocrine tumor - 1/3
    • pituitary adenoma - 1/3
  28. MEN II syndrome
    • mutation in RET gene
    • medullary thyroid carcinoma - all
    • pheochromocytoma - 1/2
    • parathyroid hyperplasia
    • ganglioneuroma
  29. prolactinoma
    • endocrine amyloid and psammoma bodies
    • nuclei are spheroidal 
    • high prolactin causes lactation and suppresses GnRH which affects LH and FSH release
    • tx with dopamine agonist
  30. acromegaly
    • increase in GH after the epipheseal plates have closed
    • caused by pituitary adenoma
    • tx surgical, somatostatin analog
  31. sheehan syndrome
    • postpartum necrosis of the anterior pituitary
    • ischemic necrosis due to post-partum hypotension - pituitary gland is vulerable b/c increased in size during pregnancy and decreased blood supply in hypotension
    • post pituitary not affected
  32. hypopituitarism
    • loss of >2 anterior pituitary hormones
    • most commonly destruction of pituitary by tumor
    • GH>LH>FSH>TSH>ACTH>PRL
  33. rieger syndrome
    • PITX2 mutation
    • iris hypoplasia
    • eccentric pupils
  34. craniopharyngioma
    • tumor of the pitutiary gland, mainly in children. delayed puberty,  mental retardation
    • presents with hypopituitarism. diabetes insipidus, hyperphagia and obesity, loss of thirst
    • has calcifications, keratin
    • due to imperfect closure of the hypophysis, NO metastasis
    • cysts containing yellow brown cholesterol rich fluid (machine oil) (cholesterol crystals that look like Utah)
  35. diabetes insipidus
    • ADH deficiency
    • increased amount of dilute urine b/c you aren't reabsorbing any water
  36. central diabetes insipidus
    • if you administer ADH, urine osmolality will return to normal
    • meaning there is a problem with the hormone release from the pituitary
  37. nephrogenic diabetes insipidus
    nothing happens when you add ADH b/c the kidney receptors are the problem and can't respond to the hormone
  38. SIADH
    • syndrome of inappropriate ADH
    • presents: headache, anorexia, vomiting, confusion
    • hyponatremia, decrease serum osmolarity
    • often a complications of small cell lung carcinoma
    • almost always due to ectopic ADH production by a tumor (paraneoplastic syndrome)
  39. creatinism
    • low TSH in newborns
    • developmental defects
    • commonly due to gland agenesis or dysgenesis
    • mental retardation, prolonged jaundice, decreased growth, poor feeding, enlarged tongue, delayed bone maturation, umbilical hernia
  40. thyroid follicular adenoma
    • well encapsulated
    • good prognosis
    • surgical excision
  41. papillary thyroid carcinoma (PTC)
    • excellent prognosis
    • may present as lymph node metastasis in neck
    • caused by radiation, iodine excess, molecular genetics
    • calcified nodules, psammoma bodies, look like papillae
    • coffee bean nuclei, orphan annie nuclei
  42. follicular carcinoma thyroid
    • good prognosis
    • gene mutation, RAS, PAX8, PPARgamma
    • thickened capsule
    • looks like many small round blue cells
    • capsular and vascular invasion are the hallmarks of follicular thyroid carcinoma
  43. anaplastic carcinoma of they thyroid
    • very poor prognosis
    • undifferentiated carcinoma
  44. medullary carcinoma of the thyroid
    • poor prognosis
    • sporadic and familial
    • familial part of MEN type 2A and type 2B syndrome (RET gene)
    • amyloid due to polymerization of pro calcitonin into beta sheets
    • congo read with apple green bifringence
  45. diffuse non toxic goiter
    • impaired ability to make thyroid hormones - increased TSH
    • tx with radio iodine I-131
  46. myxedema
    • thyroid hormone deficiency in adults
    • thickening of the skin, depostion of myxomatous material
    • accumulation of hydrophilic ground substance throughout connective tissues
    • reversible in adults
  47. hashimoto's thyroiditis
    • anti-thyroid peroxidase antibodies
    • looks like a lymph node hads invaded.
    • replacement of gland by sheets of lymphocytes
    • will see lymph nodules like those in lymph nodes - pushing out the thyroid cells
  48. thyrotoxicosis
    • excess circulating T3 and T4
    • commonly grave's disease
    • sweating, tremor, lid lag and stare
    • exopthalmos
    • tachycardia and palpitations, bouding pulse with wide pulse pressure, ejection systolic murmur
  49. Grave's Disease
    • autoimmune disorder, colloid looks like sea shells
    • Ab's act as agonist on TSH receptor
    • ophthalmopathy - inflammatory infiltration of peri-orbital and retro bulbar tissue
    • dermatopathy - pretibial myxedema, no pitting edema, deep purple color or orange skin
    • acropachy - soft tissue swelling, clubbing in fingers and toes, spoon shaped nails
  50. De Quervian (subacute granulomatous) thyroiditis
    • extremely tender enlarged thyroid, inflammation disease - tx with NSAIDS
    • recent flu like illness
    • high T3 T4, low TSH
    • generally secondary to viral infection (coxsackie)
    • foreign body granuloma with giant cells, macrophages
    • self-limiting disease
  51. riedel thyroiditis (riedel struma)
    • rock hard (woody) neck mass
    • fibroblasts proliferate and lay down collagen
    • bundles of fibrosis and collagen are destroying the tisue
    • can produce hypothyroid if enough tissue is destroyed
  52. osteitis fibrosa cystica
    • thinned cortex, hemorrhage and cysts in bone
    • seen mostly in phalanges and skull, causes pathologic fractures
    • will see brown tumors
    • classic tunneling in the bones
    • bones are more cysts than bone, not much you can do about it.
  53. brown tumors
    • intraosseous accumulation of giant cells and osteoclasts
    • brown in color due to hemorrhage
  54. chvostek sign
    • twitching of facial muscles after tapping the facial nerve just in front of the ear
    • diagnosis of hypoparathyroidsim
  55. trousseau sign
    carpal spasm after maintaining an arm blood pressure cuff at 20 mmHg above the pts systolic blood pressure for 3 min
  56. archibald sign
    • dimples instead of knuckles
    • pseudohypoparathyroidism
  57. potter's thumb
    • very small thumb
    • pseudohypothyroidism

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