Author:
nhpatel
ID:
91589
Filename:
Diseases
Updated:
2011-07-05 20:53:14
Tags:
disease presentations
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Description:
Diagnosis/Disease and Clinical Presentations
Show Answers:

  1. "Cherry red spot" on macula
    • Tay-Sachs (ganglioside accumulation)
    • Niemann-Pick (sphingomyelin accumulation)
    • Central Retinal artery occulsion
  2. Dressler's Syndrome
    • (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
    • Chest pain, pericardial effusion/friction rub, persistent fever following MI
  3. Gower's sign
    • (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
    • Child uses arms to stand up from squat
  4. "Slapped Cheeks"
    • (erythema infectiosum/fifth disease)
    • Parvovirus B19
    • Child with fever develops red rash on face that spreads to body
  5. Huntington's disease
    • Autosomal-dominant CAG repeat expansion
    • Chorea, Caudate degeneration, dementia
    • (5 C's : Chorea, Crazy (dementia), AcetylCholine decrease, CAG, and Caudate degeneration)
  6. McArdle's disease
    • Muscle phosphorylase deficiency
    • Chronic exercise intolerance with myalgia, fatigue, and painful cramps
  7. Hypothyroidism
    • Cold Intolerance, weight gain
    • Hashimoto Thyroiditis
    • Cretinism
    • Myxedema
  8. Internuclear ophthalmoplegia (INO)
    • Damage to Medial Longitudinal fasciculus (MLF)
    • Bilateral--Multiple Sclerosis
    • Unilateral--Stroke
    • Conjugate lateral glaze palsy, horizontal diplopia
    • Paralysis of Adducting eye (Nystagmus)
  9. PDA
    • Continous "machinery" heart murmur
    • Close with INDOMETHACIN
    • open with MISOPROSTOL (prostaglandin)
  10. Myxedema
    • Hypothyroidism and Graves disease (pretibial myxedema)
    • Cutaneous/dermal edema due to connective tissue deposition
  11. Kaposi's Sarcoma
    • Usuall AIDS patients (gay men)
    • Associated with HHV-8 (also in AIDS patients)
    • Dark purple skin/mouth nodules
  12. Acetylcholine
    • DEcreased: Huntington's and Alzheimer's
    • INcreased: Parkinson's
  13. Reiter's Syndrome
    • Sero-negative HLA B27 arthritis
    • (Can't See, Can't Pee, Can't Climb a Tree)
    • Conjunctivits/Uveitis, Urethritis, Arthritis
    • Post GI or Chlamydia infections
  14. Seronegative Spondylarthropathies
    • (PAIR)
    • P-Psoriatic Arthritis
    • A-Ankylosing spondylitis
    • I-Inflammatory Bowel Disease
    • R-Reiter's Syndrome/Reactive arthritis
  15. Pellagra
    • Niacin (Vit. B3) deficiency
    • (3 D's of vit. B3)
    • D-Dermatitis
    • D-Dementia
    • D-Diarrhea
  16. Wet Beriberi
    • Thiamine (vit. B1) deficiency
    • Dilated cardiomyopathy, edema, polyneuropathy
    • Dry Beriberi + Cardiomyopathy = Wet Beriberi
    • Dry Beriberi = polyneuropathy in isolation with vitamin B1 deficiency
  17. Pastreurella multocida
    • Cellulitis at inoculation site
    • Dog or cat bite resulting in infection
  18. Sjogren's Sydrome
    • Autoimmune destruction of exocrine gland (specifically salivary and lacrimal glands)
    • Common Triad: (Can't See, Can't Spit, Can't Climb Shit)
    • Dry eyes, dry mouth, arthritis
  19. Plummer-Vinson syndrome
    • May progress to Esophageal Squamous Cell Carcinoma
    • Common Triad: (DIG)
    • Dysphagia (esophageal web)
    • Iron-deficiency anemia
    • Glossitis
  20. Ehlers-Danlos sydrome
    • Collagen defect, usually type III collagen
    • Elastic skin, hypermobility of joints
  21. Virchow's node
    • Abdominal metastasis (very poor prognosis)
    • Enlarged, hard left supraclavicular node
  22. Sezary syndrome or Mycosis fungoides
    • Cutaneous T-cell lymphoma (Sezary syn.)
    • Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
  23. Chvostek's sign
    • Hypocalcemia
    • Facial muscle spasm upon tapping
    • (CHvostek's sign = tap the CHeek)
    • Also, see Trussous sign--Tighten blood pressure cuff and get carpal spasm
  24. Acute Cholecystitis
    • bile duct blocakage
    • precursor is Cholithiasis (gall stones)
  25. Cholelithiasis
    • AKA Gall stones
    • Leads to acute cholecystitis
    • (4 F's)
    • Fat, female, forty, and fertile
  26. Jarisch-herxheimer reaction
    • Caused by treponema palladium
    • Rapid lysis of spirochetes results in toxin release
    • Fever, chills, headache, myalgia following antibiotic treatment for syphillis
  27. Measles
    • Morbillivirus, Parymyxovirus
    • AKA Rubeola virus
    • Fever, rash, and (4 C's)
    • Coplik (Koplik spots), Cough, Conjunctivitis, Coryza (allergy symptoms such as runny nose, watery eyes)
  28. Name two viruses that cause "common cold"
    • Rhinovirus
    • Corona virus
    • (A RHINO drinking a COLD CORONA)
  29. B symptoms and Tuberculosis
    • B symptoms (lymphoma)
    • Fever, night sweats, weight loss
  30. Peyronie's disease
    • Connective tissue disorder on dorsum of penis
    • Fibrous plaques in soft tissue of penis
  31. Lesch-Nyhan syndrome
    • HGPRT deficiency (enzyme in purine salvage pathway)
    • X-linked recessive
    • Gout, mental retardation, self-mutilating behavior in a boy
  32. Kayser-Fleischer rings
    • copper accumulation from Wilson's disease
    • Green-yellow rings around peripheral cornea
    • (when COPPER becomes oxidized it turns GREEN)
  33. Peutz-Jeghers syndrome
    • genetic benign polyposis can cause bowel obstuction; increase cancer risk
    • Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
  34. Gaucher's disease
    • Glucocerebrosidase deficiency
    • "crinkled tissue paper" cytoplasm
    • Hepatosplenomegaly, osteoporosis, neurologic symptoms
  35. Alport's sydrome
    • Type IV collagen mutation
    • (can't see, Can't pee, can't hear)
    • Cataracts
    • Hereditary nephritis
    • Sensorineural hearing loss
  36. Trousseau's sign
    • adenocarcinoma of pancreas or lung
    • Hypercoagulability (leading to thrombophlebitis which can cause migrating DVTs and vasculitis)
  37. Kluver-Bucy syndrome
    • Bilateral amygdala lesion
    • Hyperphagia, Hypersexuality, Hyperorality, Hyperdocility
    • Erika Eiffel = Married the Eiffel tower (objectum sexuality)
  38. Conn's syndrome
    • Primary hyperaldosteronism
    • Hypertension, hypokalemia, metabolic acidosis
    • high levels of aldosterone
    • Treat with drugs that cause low aldosterone: Aldosterone Antagonist (spironolactone and anaplaronone)
  39. "Blue Bloater"
    • Chronic bronchitis: hyperplasia of mucous cells (increased REID index)
    • Hypoxemia, polycythemia, hypercapnia
  40. 1) Chancre
    2) Chancroid
    • Both are indurated, ulcerated genital lesions
    • 1) Non-painful,in Primary Syphillis caused by Treponema pallidum
    • 2) Painful with exudate, caused by Haemphilus ducreyi (If its painful I "do cry")
  41. Niemann-Pick disease
    • Genetic sphingomyelinase deficiency
    • can see cherry red spots on macula
    • Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
  42. 1)Cori's disease
    2)Von Gierke's disease
    • 1) Debranching enzyme deficiency (glycogen getting stored in liver and can't undergo glycogenolysis)
    • 2) Absent of gluconeogenesis
    • Both: infant with hypoglycemia, failure to thrive, and hepatomegaly
  43. Edward's sydrome
    • Trisomy 18
    • Infant with microcephaly, ROCKER-BOTTOM FEET, clenched hands, and stuctural heart defect, micrognathia (small jaw)
    • Most common autosomal genetic defect after Down Syndrome
  44. Charcot's triad
    • Ascending Cholangitis
    • Jaundice, RUQ pain, fever
  45. Squamous Cell Carcinoma
    • These cells make keratin so get pickets of keratin 'pearls'
    • Keratin pearls on a skin biopsy
  46. Erythema chronicum migrans
    • From Ixodes tick bite (Lyme disease and Babesia: Borrelia burgdorferi)
    • Large rash with bull's eye appearance
  47. Epidural hematoma
    • Middle meningeal artery rupture
    • Lucid interval after traumatic brain injury
    • (Get knocked in the head and unconscious but get back up after a couple of hours, then get dizzy and then die shortly afterwards)
  48. Bruton's disease
    • X-linked agammaglobulinemia
    • (3 B's)
    • Boys, no mature B-cells, infection is Back!
    • Male child, no mature B-cells, recurrent infection
  49. Glanzmann's thrombasthenia
    • defect in platelet aggregation due to lack of GpIIb/IIIa
    • Mucosal bleeding and prolonged bleeding time
  50. Gardner's sydrome
    (Gardners growing stuff everywhere in body)
    • Subtype of FAP
    • Multiple colon polyps, osteoma/soft tissue tumors, impacted/supernumerary teeth
  51. 1) Wegener's syndrome (granulomatosis)
    • (3 N's and 3 C's)
    • (3 N's): Necrotizing vasculitis, Necrotizing granulomas in lungs and upper airway, Necrotizing glomerulonephritis
    • (3 C's): c-ANCA, Casts (RBC), and treat with Cyclophosphamide and Corticosteriods
    • has perforation of nasal septum (can also be seen in cocaine abuse)
  52. Goodpasture's syndromes
    • Anti-basement membrane antibodies
    • necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
  53. Erb-Duchenne palsy
    • Superior trunk [C5-C6] brachial plexus injury: "waiter's tip"
    • Often associated with clavicular fracture
    • Neonate with arm paralysis following difficult birth
  54. Sheehan's sydrome
    • Pituitary infarction
    • No lactation postpartum, absent menstruation, cold intolerence
    • Women has postpartum hemorrhage which causes HTN so pituitary doesn't get enough blood flow so gets pituitary infarction so No Hormone
  55. Multiple Sclerosis
    • bilateral internuclear opthalmoplegia
    • Nystagmus, intention tremor, scanning speech (other Charcot's Triad)
  56. Cheyne-Stokes respirations
    • Central apnea in CHF or increase intracranial pressure
    • Oscillating slow/fast breathing
  57. Cold Agglutinin disease
    • IgM antibodies
    • Autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis (caused by EBV)
    • Painful blue fingers/toes, hemolytic anemia
  58. Raynaud's syndrome
    • Vasospasm in extremities
    • Painful, pale, cold fingers/toes
  59. Osler's node
    • Associated with Infective endocarditis
    • Painful, raised red lesions on palms and soles
  60. Janeway lesions
    • Associated with infective endocarditis
    • Painless, erythematous lesions on palms and soles
  61. Infective Endocarditis
    • (bacteria FROM JANE)
    • Fever, Roth's spots, Osler's node, Murmur, Janeway lesions, Anemia, Nail bed hemorrhage (splinter hemorrhage), Emboli
  62. Painless Jaundice
    • In adults, cancer of the pancreatic head obstructing bile duct
    • Good sign to have so can diagnose pancreatic cancer
  63. Henoch-Schonlein purpura
    • Palpable purpura on buttock and legs, joint pain (arthritis), abdominal pain (child)
    • IgA vasculitis affecting skin and kidneys
    • (Henoch is on the Buttock of little Focks)
    • (also another name for buttock is A=Ass)
    • A= IgA nephropathy, Abdominal pain, Arthralgia
  64. Wermer's sydrome
    • MEN 1
    • (3 P's)
    • Pancreatic, Pituitary, Parathyroid tumors
  65. "Pink Puffer"
    • Emphysema: centroacinar (smoking), panacinar (alpha1-antitrypsin deficiency)
    • Pink complexion, dyspnea, hyperventilation
  66. Turner's sydrome
    • XO, chromosome 45, short stature, webbed neck, lymphedema
    • Streak ovaries, congenital heart disease(coarctation of aorta), horseshoe kidney
  67. Gout
    • caused by Lesch-Nyhan sydrome, PRPP excess, decrease excretion of uric acid (hyperuricemia)
    • 90% underexcreation, 10% overproduction
    • Crystals: Needle shaped, Negative birefringent (yellow when parallel and blue when perpendicular to the light)
    • swollen, painful, red joint
    • Podagra = Painful MTPJ of hallux
    • Tophus production
    • Acute attacks after big meals or alcohol consumption/binge
    • Treatment: (A=CN(i)) and (C=AP)
    • Acute=Colchine, NSAIDs (indomethacin) NSAIDS Drug of Choice
    • Chronic=Allopurinol, Probenicid
  68. Scurvy
    • Vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis
    • Swollen gums, mucous bleeding, poor wound healing, spots on skin
  69. Osteoarthritis
    • 'Wear and tear' localized disease
    • Osteophytes, Eburnation, Heberden's node (DIPJ), Bouchard's node (PIPJ)
    • Non-inflammatory, no systemic symptoms, "bow-legged" cartilage loss, sclerotic bone, joint space narrowing, subchondral cyst, and Pain with use
    • Treament in order of options: Acetaminophen (for pain), NSAIDS, steriod injection (decrease inflammation), hyaluronic acid (slippery substance will help with lubrication of joint), and Opoids (pain)
  70. Psuedogout
    Calcium Pyrophosphate crystals (rhomboid, Positively birefringent)
  71. Fanconi's syndrome (proximal tubular reabsorption defect)
    • Polyuria
    • acidosis
    • growth failure
    • electrolyte imbalances
  72. Anterior cruciate ligament (ACL) injury
    Positive anterior 'drawer sign'
  73. Horner's sydrome
    • Sympathetic chain lesion
    • Ptosis
    • Anhidrosis
    • Miosis
    • Pancoast's tumor
    • *Remember* PAM is HORNY screwing guys from COAST to COAST
  74. Argyll Robertson pupil
    • Neurosyphillis
    • Pupil accommodates but doesn't react
    • 'Prostitutes' pupil'