Presentations Flashcards

(250 cards)

1
Q

Trigeminal neuralgia

A

Chronic pain syndrome characterized by transient, recurrent, severe shooting, stabbing pain in the trigeminal nerve distribution

Manifests with pain shooting from mouth to angle of jaw

Triggered by brushing, chewing, cold, touch

Tx with carbamazepine

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2
Q

Koplik spots (measles (rubeola) virus)

A

Small, irregular red spots on buccal/lingual mucosa with blue white centers

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3
Q

Methylmalonic academia

A

Branched chain organic acidemia

AR

Caused by defect in methylmalonyl coA mutase (enzyme that convert methylmalonyl coA to succinyl coA)

Causes hyperammonemia by inhibiting urea cycle, inhibits gluconeogenesis, promotes fatty acid oxidation, metabolic acidosis

S/s: metabolic acidosis, branched chain acids in serum, vomiting, poor feeding, failure to thrive, hypotonia, hepatomegaly first few weeks of life

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4
Q

Peyronie disease (connective tissue disorder)

A

Fibrous plaques in tunica albuginea or penis with abnormal curvature

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5
Q

Immunoglobulin A vasculitis (Henoch Schonlein purpura, affects skin and kidneys)

A

Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria

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6
Q

Scurvy (vitamin C deficiency: cannot hydroxylate proline/lysine for collagen synthesis)

A

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

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7
Q

Kaposi sarcoma (assoc with HHV8)

A

Dark purple skin/mouth nodules in AIDS pts

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8
Q

Whipple disease (Tropheryma whipplei)

A
Arthralgias
Cardiac symptoms 
Neuro symptoms
Adenopathy
Diarrhea
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9
Q

Horner syndrome (sympathetic chain lesion)

A

Ptosis
Miosis
Anhidrosis

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10
Q

Huntington disease (AD CAG repeat expansion)

A

Chorea
Dementia
Caudate degeneration

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11
Q

Pemphigus vulgaris (blistering)

A

Anti desmoglein (anti desmosome) abs

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12
Q

Serotonin syndrome treatment

A

CYPROHEPTADINE (5HT antagonist)

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13
Q

Bernard Soulier disease

A

AR bleeding disorder

Deficiency of PLATELET GLYCOPROTEIN 1B RECEPTOR
(Normal- GP1b receptor binds vWF in vessels [critical for platelet adhesion] and is involved in platelet production by megakaryocytes.)
- deficiency of GP1b receptor leads to BOTH abnormal platelet aggregation with ristocetin and thrombocytopenia with giant platelets on peripheral smear

presents with petechiae, purpura, menorrhagia, prolonged bleeding with trauma and surgery

Causes decreased platelet count, giant platelets, prolonged bleeding time, normal PT and PTT and abnormal platelet aggregation with ristocetin

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14
Q

Malignant otitis externa

A

Subtype of otitis externa characterized by necrotizing inflammation of external auditory canal

MC associated with P aeroginosa

Risk factors: poorly control DM and immunosuppression

S/s: severe ear pain, facial droop (indicating progression to osteomyelitis of temporal bone with associated CNVII palsy), fever, tachycardia, and presence of granulation tissue in ear canal

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15
Q

Cholelithiasis

A

Fat
Female
Forty
Fertile

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16
Q

Klinefelter syndrome

A

XXY genotype

Tall stature, small atrophic testes, lack of secondary male characteristics, infertility, gynecomastia, MVP

At puberty- seminiferous tubules fail to enlarge normally and undergo fibrosis and hyalinization
Leydig cells are hyperplastic, clumped together, and do not produce testosterone

  • testosterone normally feeds back negatively on hypothalamus and anterior pituitary to suppress LH and FSH, inhibin B also suppresses FSH release—>Klinefelter pts have low testosterone, LH and FSH both rise in response to release from feedback inhibition and inhibin B levels are low, allowing FSH to rise
  • inhibin B is produced by Sertoli cells in response to testosterone, so levels fall when testosterone production decreases. Inhibin B normally inhibits FSH release from anterior pituitary
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17
Q

Hodgkin’s lymphoma

A

Localized LAD
Painless cervical LAD
Alcohol induced pain
B symptoms - fever, night sweats, weight loss

Bimodal distribution (3rd and 6-8 decade of life)

LN bx- Reed Sternberg cells (CD15/30 +, polynuclear giant cells that originate from B cells)

Associated with EBV, immunodeficiency (HIV)

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18
Q

Hereditary spherocytosis

A

Congenital RBC membrane protein defect - loss of outer lipid bilayer and decrease in RBC surface area - sphere shaped RBCs with membrane instability (spherocytes)

Spherocytes get trapped in splenic vasculature—> splenomegaly and destruction by splenic macrophages—> normocytic anemia and jaundice

  • increased MHCH
  • increased RDW
  • signs extravascular hemolysis (high LDH, indirect hyperbilirubinemia)

AD
Family hx positive for splenectomy and/or cholilethiasis at young age

MC affected proteins: SPECTRIN, ANKYRIN, band 3, protein 4.2

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19
Q

Scleroderma (CREST)

A

Anticentromere antibodies

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20
Q

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL)

A

Painful blue fingers/toes

Hemolytic anemia

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21
Q

Beck’s triad of cardiac tamponade

A

Distant heart sounds
JVD
Hypotension

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22
Q

Angina (- troponins) or NSTEMI (+ troponins)

A

Chest pain with ST depressions on EKG

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23
Q

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)

A

Infant with hypoglycemia and hepatomegaly

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24
Q

OA (osteophytes on PIP (Bouchard nodules), DIP (Heberden nodules)

A

Swollen, hard, painful finger joints in elderly

Pain worse with activity

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25
Kluver Bucy syndrome (bilateral amygdala lesion)
Hyperphagia Hypersexuality Hyperorality
26
IgA deficiency
Anaphylaxis after blood transfusion
27
Hyper IgM syndrome
Class switching disorder MC dt defective CD40L on Th1 cells—> can’t bind CD40 on B cells—> can’t class switch—> T cell dependent B cell activation defect X linked (boys) HIGH IgM, all other Igs absent No IgG- cannot opsonize therefore recurrent encapsulated bacteria infections
28
Neurofibromatosis type 1
``` Cafe au lait spots Loach nodules (iris hamartoma) Cutaneous neurofibromas Pheochromacytomas Optic gliomas ```
29
Hyperchloremic metabolic acidosis
Non anion gap Caused by primary loss of bicarbonate, which results in compensatory increase in extracellular Cl- ``` Common causes: Diarrhea Vomiting RTA Carbonic anhydrase inhibitors ```
30
Osler nodes (infective endocarditis, immune complex deposition)
Painful, red raised lesions on finger/toe pads
31
Burton line (lead poisoning)
Bluish line on gingiva
32
PKU
Accumulation of Phe in CNS can be dt defect Of Phe hydroxylase (classic PKU) or deficiency of tetrahydrobiopterin (malignant PKU) Psychomotor retardation, seizures, musty odor. Pale skin/hair (lack of melanin) AUTOSOMAL RECESSIVE
33
LMN damage
Hyporeflexia Hypotonia Atrophy Fasciculations
34
Rovsing sign (acute appendicitis)
RLQ pain with LLQ palpation
35
Lymphoid cells
Precursors of: | B or T cells
36
Pancreatic pseudocyst
Fluid collection rich in pancreatic enzymes surrounded by a wall of nonepithelialized FIBRIN and GRANULATION tissue Usually occurs weeks after pancreatitis Potentially caused by disruptions of pancreatic ducts from pancreatitis and extravasation of pancreatic enzymes
37
Lichen planus
Pruritic Purple Polygonal planar applies and plaques
38
Congenital toxoplasmosis
Chorioretinitis Hydrocephalus Intracranial calcifications
39
Scarlet fever OR Kawasaki disease
Strawberry tongue
40
Neurosyphilis (Argyll Robertson pupil)
Pupil accommodates, but does not react
41
Muscular dystrophy (MC Duchenne dt X linked recessive frameshift mutation of dystrophin gene)
Calf pseudohypertrophy
42
Sarcoidosis (non caseating granulomas)
Bilateral hilar adenopathy | Uveitis, conjunctival injection
43
Factor V Leiden
Hypercoaguable state Mutation in Factor V does not allow activated protein C (potent anticoagulant) to inhibit the coagulation cascade Procoagulant state by activation of prothrombin to thrombin Increased thrombotic events (peripheral and cerebral vein thrombosis, recurrent pregnancy loss)
44
Aortic stenosis
Systolic ejection murmur | Crescendo- decrescendo
45
Bruton disease (X linked agammaglobulinemia)
Male child, recurrent infections, NO MATURE B CELLS
46
Bruner glands location
Sub mucosa of duodenum Secrete bicarbonate Undergo hyperplasia as a protective mechanism in its with PUD
47
McCune Albright syndrome (Gs activating mutation)
Unilateral cafe au lait spots Polyostotic fibrous dysplasia Precocious puberty Endocrine abnormalities
48
Nevis flammeus (benign, associated with Sturgeon Weber syndrome)
Vascular birthmark (portwine stain) on face
49
PGE2
``` Redness (vasodilation) Edema (permeability) Fever (hypothalamus) Pain (nerves) Renal vasodilation (afferent) GI mucosa protection ```
50
Goodpasture’s syndrome
Antibody to alpha 3 chain of type IV collagen Anti GBM and anti alveoli TYPE II HSR Hemoptysis and nephritic syndrome IF: linear pattern of IgG and C3 Classic case- young adult male, hemoptysis, hematuria, NO ANCAs
51
Turner syndrome (45XO)
``` Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphadema ```
52
Dressier syndrome (autoimmune mediated post MI fibrinous pericarditis, 2 weeks to months after acute MI)
Chest pain Pericardial effusion/friction rub Persistent fever after MI
53
Essential tremor
MC form of tremor AD or sporadic Bilateral hand tremor, head, and/or voice Worse with voluntary movements, stress, fatigue, caffeine Improves with alcohol, resolves at rest TX WITH PRIMIDONE
54
Ataxia telangiectasia
Failure to repair dsDNA breaks via NHEJ—> accumulate DNA damage and hypersensitivity of DNA to ionizing radiation Ataxia, telangiectasias, infections, malignancies—> begins with gait and balance problems Repeated sinus/pulmonary infections dt low IgA and IgG HIGH AFP, LOW IgA
55
Narcolepsy
Excessive daytime sleepiness Cataplexy- sudden muscle weakness in fully conscious person triggered by strong by emotions Sleep paralysis Sleep hallucinations Dx: rapid beta waves on EEG or LOW levels of hypocretin in CSF Tx: good sleep hygiene, daytime stimulant (modafinil, amphetamines), nighttime sodium oxybate therapy
56
Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)
Large rash with bull’s eye appearance
57
Hashimoto thyroiditis biopsy findings
Follicle destruction with lymphocytic infiltrate and germinal center formation Hashimoto’s thyroiditis is caused by auto antibody mediated destruction of thyroid tissue abs manifests as hyperthyroidism first abs then progresses to hypothyroidism Patchy diffuse DECREASED uptake of radioiodine
58
Non painful, indurated ulcerated genital lesion
Chancre (primary syphilis, T pallium)
59
Hereditary spherocytosis
Genetic mutation in spectrin or ankyrin (RBC membrane proteins) AD Splenomegaly Jaundice Anemia Elevated mean corpuscular Hb concentration (MCHC) Spherocytes on smear Extra vascular hemolysis of fragile RBCs within the spleen (worsened by viral infections) leads to increased bilirubin and formation of calcium bilirubinate gallstones (black pigment gallstones)—> predisposing to cholecystitis
60
Multiple sclerosis
Nystagmus Intention tremor Scanning speech Bilateral internuclear opthalmoplegia
61
Myofibroblasts
Generate contractile force that draws wound edges together Excessive proliferation and persistence of myofibroblasts lead to pathological fibrosis and contracture
62
Cryoglobulinemic vasculitis
Triad of arthralgia, palpable purpura, fatigue Cryoglobulin mediated vasculitis characterized by temperature dependent deposition of Ig/immune complexes in blood vessel walls and subsequent inflammation of involved vessels Associated with HCV, multiple myeloma, lymphoproliferative dx, CT dx, autoimmune dx, proliferative glomerulonephritis
63
Alport syndrome (mutation in collagen IV)
Hereditary nephritis Sensorineural hearing loss Retinopathy Lens dislocation
64
Osteitis deformans (Paget disease of bone, high osteoblasts and osteoclastic activity)
Bone pain Bone enlargement Arthritis
65
Succinylcholine MOA and AE
Persistent depolarization of motor end plate—> flaccid skeletal paralysis AE: malignant hyperthermia and hyperkalemia
66
Fanconi syndrome (multiple combined dysfunction of PCT)
``` Polyuria RTA type II Growth failure Electrolyte imbalances Hypophosphatemic rickets ```
67
Mast cell degranulation releases (4)
TRYPTASE Histamine Heparin Eosinophilic chemotactic factors
68
Eosin 5 maleimade binding test
Confirmatory test for hereditary spherocytosis S/s: fatigue, malaise, pale conjunctiva, splenomegaly, anemia, positive family history, HIGH RDW, increased MHCH PIGMENTED GALLSTONES are complication of hereditary spherocytosis
69
Lymphogranuloma venereum
Sexually transmitted disease caused by L1-3 serovars of Chlamydia trichomatis Starts as PAINLESS papule on genitals thy May ulcerate. Heals on it’s own. 2-4 weeks after initial lesion, pts have painful suppurative bilateral inguinal LAD and fever, chills, malaise, myalgia
70
anti NMDA encephalitis
Paraneoplastic encephalomyelitis associated with ovarian teratoma Antibodies against NMDA glutamate receptors Pts have prodrome of fever, HA, fatigue followed by psychiatric and neurological symptoms and autonomic dysregulation CSF analysis shows lymphocytes with increased protein concentration
71
Angina (stable: with moderate exertion; unstable: with minimal or no exertion)
Chest pain on exertion
72
EDS type III
Type III collagen defect Vascular subtype Rupture of large arteries- CNS “berry” aneurysms Rupture of hollow organs- intestinal perforation, uterus during pregnancy Life threatening form of EDS
73
Bullous pemphigoid
Autoimmune blistering disease in adults Autoantibodies to HEMIDESMOSOME Large pruritic bullae on palms, soles, lower legs, inguinal folds Linear deposition of IgG and C3 at DERMO EPIDERMAL JUNCTION Tense bullae, negative nikolsky
74
Osteitis deformans
Aka Paget disease of bone Increased bone remodeling dt increased osteoblasts and osteoclast activity —> formation of disorganized bone, abnormal structure Pathological fx, bone pain with overlying redness, hearing loss Elevated alk phos, normal calcium and phosphate
75
Biliary atresia
Rare neonatal condition characterized by progressive fibrosis and obliteration of extrahepatic biliary tree Leads to cholestasis, jaundice, acholic stools, dark urine Progresses to liver cirrhosis and failure requiring transplantation
76
Enterotoxigenic E. coli (ETEC)
Produces heat labile and heat stabile toxin. Heat labile- causes over activation of adenylyl cyclase—> increase cAMP Heat stabile- increases cGMP via activation of guanylyl cyclase
77
Tricyclic antidepressants (TCAs) toxicity- 3Cs
1. Convulsions 2. Coma 3. Cardiotoxicity TCAs (clomipramine, amitriptyline, imipramine, nortriptyline) inhibit NE and serotonin reuptake AND BLOCK MUSCARINIC, HISTAMINE, and ALPHA 1 ADRENERGIC RECEPTORS Significant anticholinergic properties dt muscarinic block- tachycardia, dry mouth, dry eyes, constipation, UTI art retention, mydriasis, sedation, QT prolongation, ventricular arrhythmia said, angle closure glaucoma
78
Vitiligo
Autoimmune destruction of melanocytes Pts should be tested for thyroid function and markers of other autoimmune conditions Depigmented areas involve face, neck, scalp, sacrum, extensor surfaces, genitals
79
Metyrapone stimulation test
Metyrapone inhibits cortisol by inhibiting 11 beta hydroxylase—> leading to increased CRH and ACTH dt decreased negative feedback ACTH stimulates 11 deoxycortisol—> immediate precursor of cortisol 11 deoxycortisol that do not increase after metyrapone indicate primary adrenal insufficiency Failure of ACTH and 11 deoxycortisol to both rise after metyrapone indicate secondary or tertiary adrenal insufficiency
80
Virchow node (abdominal metastasis)
Enlarged, hard LEFT supraclavicular LN
81
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
Conjugate horizontal gaze palsy | Horizontal diplopia
82
Poststreptococcal glomerulonephritis
Granular deposits of IgG, IgM, and C3 along glomerular basement membrane and mesangiun on immunofluorescence - LUMPY BUMPY ON IF Subepithlial immune complexes on on EM (humps) Immune complexes trigger complement activation that destroys glomeruli Pt will have nephritic syndrome- periorbital edema, gross hematuria with RBC casts, mild proteinuria, elevated creatinine, HTN after GAS infection
83
Paget disease of breast (sign of underlying neoplasm)
Red, itchy, swollen rash of nipple/areola
84
Wiskott Aldrich syndrome
X linked WAS gene mutation WASp dysfunctional —> necessary for T CELL CYTOSKELETON maintenance—> cytoskeleton dysfunction—> T cells cannot react to APCs Thrombocytopenia Eczema Recurrent pyrogenic infections HIGH IgE and IgA
85
Chronic bronchitis (hyperplasia of mucus cells, “blue bloater”)
Hypoxemia Polycythemia Hypercapnea
86
Painful, with exudate ulcerated genital lesion
Chanchroid (Haemophilus ducreyi)
87
Leukocyte Adhesion Deficiency
Defective neutrophil/lymphocyte migration MC type I - AR DEFECT IN CD18–> forms beta subunit of INTGRINS (adhesion molecules) - WBCs, especially PMNs CANNOT roll, migrate Delayed separation of umbilical cord - presents as omphalitis Recurrent bacterial infections Neutrophilia- but neutrophils cannot leave blood and enter tissues
88
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
89
C diff infection
Abdominal pain Diarrhea Leukocytosis Recent abx use
90
Langerhans cells
APCs in skin and mucus membranes Most effective form of APC because express MHCII and costimulatory B7 cell surface molecules Express myeloid cell surface markers Contain characteristic RACKET SHAPED INTRACYTOPLASMIC GRANULES (Birbeck granules) visible on EM
91
Hydropic degeneration
Accumulation of water in cells in response to injury Impaired Na/K ATPase pump function (due to hypoxia ie) decreases ATP production —> leads to Na accumulation in cell. Consequently, water follows Na, leads to cell swelling Cells look pale and swollen
92
Erb Duchenne palsy (superior trunk (C5-C6) brachial plexus injury)
Waiter’s tip arm position | Arm paralysis after difficult birth
93
Cidofovir
Viral DNA polymerase inhibitor that DOES NOT REQUIRE PHOSPHORYLATION by viral kinase to function Can be used in pts with seizure disorder
94
Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; high GI cancer risk)
Hamartomatous GI polyps | Hyperpigmented macules on mouth/feet/genitals/hands
95
Henoch Schonlein purpura
MC childhood systemic vasculitis Often follows URI Associated with IgA- vasculitis from IgA complex deposition, C3 deposition Skin- palpable purpura on buttocks/legs GI- abdominal pain, melena, associated with intussusception Kidneys- nephritis Dx: tissue biopsy with IgA deposition Tx: self limited Feared result- kidney failure
96
Warfarin induced skin necrosis
Skin necrosis caused by paradoxical coagulation 3-5 days after starting warfarin Warfarin initially drops the anticoagulative protein C and S before decrease in vitamin K dependent factors 2, 7, 9, 10. Transient hypercoagulability- risk of thrombosis and warfarin induced skin necrosis
97
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless red lesions on palms and soles
98
MEN1 (AD)
Pancreatic Pituitary Parathyroid tumors
99
PDA (close with indomethacin, keep open with PGE analogs)
Continuous machine like murmur
100
Neurepileptic Malignant syndrome
Pts on dopamine blockers (haldol) Muscle rigidity, fever, AMS, autonomic instability LEAD PIPE RIGIDITY, HIGH CK - muscles fixed and contracted
101
Hereditary hemorrhagic telangiectasia (Osler Weber Rendu syndrome)
``` Telangiectasias Recurrent epistaxis Skin discoloration AVMs GI bleed Hematuria ```
102
Pasteurella multocida (cellulitis at inoculation site)
Dog or cat bite resulting in infection
103
Ataxia telangiectasia
ATM mutation on 11q22.3 ATM codes for DNA damage check point and another region that has serine/threonine kinase activity NHEJ contributes to VDJ recombination—> major mechanism for antibody and lymphocyte receptor diversity Triad of: cerebellar atrophy, angiomas, IgA deficiency
104
Central chromatolysis
Reaction of neuronal cell body (soma) in response to axon injury Swelling of neuronal body, dispersion of Nissl bodies, displacement of nucleus to periphery Changes reflect increase in protein synthesis aimed at restoring damaged axon Occurs concurrently with Wallerian degeneration
105
Spinal cord compression
Caused by compression of spinal cord from etiologies including - intervertebral disc prolapse, rupture - tumor, metastatic lesion in vertebrae - abscess - hemorrhage Symptoms include - back pain - motor and sensory dysfunction distal to compression - ANS symptoms- bladder, bowel dysfunction, orthostatic hypotension, loss of sweating below lesion
106
SLE
Butterfly facial rash and Raynaud phenomena in females
107
NF1
AD or spontaneous mutation of tumor suppressor NF1 on CHROM 17 ``` Neurofibromas Cafe au lait spots Lisch nodules MR Seizures - meningiomas Pheochromacytomas ```
108
Paroxysmal nocturnal hemoglobinuria
Red/pink urine | Fragile RBCs
109
Meigs syndrome
Simultaneous occurrence of benign ovarian tumor (ovarian fibroma), as cities, and pleural effusion (usually right sided) Ovarian fibroma have SPINDLE SHAPED CELLS
110
Carcinoid syndrome (R sided cardiac valve lesions, high 5 HIAA)
Cutaneous flushing Diarrhea Bronchospasm
111
anti Yo antibodies cause what?
Paraneoplastic cerebellar degeneration - ataxia, nystagmus, dysmetria, dysarthria Abs against Purkinje cells Caused by breast, ovarian, endometrial cancers
112
Ataxia telangiectasia
AR ATM gene mutation—> defective dsDNA break repair—> tumors and immunodeficiency ``` Gait ataxia Spider angiomas- telangiectasias involving face and conjunctiva Immunodeficiency- esp IgA High AFP Increased risk of malignancy ```
113
Serotonin syndrome
Any drug that increases serotonin (SSRI, SNRI, LINEZOLID, TCAs, MAOI) Triad: 1. AMS 2. Autonomic instability (diaphoresis, tachycardia, hyperthermia) 3. Neuromuscular abnormalities (tremor, glomus, hyperreflexia, Babinski) Watch for patient on anti depressants with fever, confusion, rigid muscles Treatment: CYPROHEPTADINE (5HT antagonist)
114
Condylomata lata (secondary syphilis)
Smooth, moist, painless, wart like lesions on genitals
115
Fibrates MOA
Activation of PPAR alpha—> high lipoprotein lipase activity—> more rapid degradation of LDL and TGs and induction of HDL Low LDL higher HDL Very low TGs Side effects: myopathy, cholilithiasis, increased LFTs
116
Terbinafine MOA
Inhibits fungal squalene epoxidase- enzyme for fungal sterol synthesis Resulting deficiency of ergosterol within fungal cell membrane —> cell death
117
Raynaud phenomenon (vasospasm in extremities)
Painful fingers/toes changing color from white to blue to red with cold or stress
118
Hereditary fructose intolerance
Aldolase B deficiency Manifests as vomiting, poor feeding. Hypoglycemia, jaundice, hepatomegaly Symptoms manifest around times of weaning Tx: lifelong fructose and sucrose free diet
119
Pleiotropy
One gene contributes to multiple seemingly unrelated phenotypes Explains how single gene can cause multiple organ disease involvement Ie- PKU, Marfan, ataxia telangiectasia, SCD
120
MEN2A (AD RET mutation)
Thyroid Parathyroid tumors Pheochromacytomas
121
Gardner syndrome (FAP subtype)
Multiple colon polyps Osteomas/soft tissue tumors Impacted/supernumerary teeth
122
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Rapidly progressive limb weakness that ascends following GI/respiratory infection Assoc with C. jejuni infection
123
Carbamoyl phosphate synthetase 1
Urea cycle disorder
124
Aortic regurgitation
Bounding pulses Wide pulse pressure Diastolic murmur Head bobbing
125
Primary adrenocortical insufficiency—> High ACTH, high MSH (ie Addison dx)
Skin hyperpigmentation Hypotension Fatigue
126
Microscopic polyangiitis
Hemoptysis, kidney failure, purpura NO UPPER AIRWAY DISEASE- no nasopharyngeal involvement NO GRANULOMAS ON BX MPO-ANCA/p-ANCA (anti myeloperoxidase) Tx: steroids, cyclophosphamide
127
Crigler Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe jaundice in neonate
128
Patau syndrome (trisomy 13)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
129
Mucor or Rhizopus fungal infection
Black eschar on patient with DKA
130
Radiation induced what type of cell damage?
1. DNA ds breaks | 2. Formation of free radicals
131
Slipped capital femoral epiphysis
Proximal femoral growth plate failure which causes posterior and inferior displacement of femoral head Adolescent males (10-16) that are obese Antalgic gait, restricted internal rotation and abduction
132
Fenofibrate MOA
Activation of lipoprotein lipase—> increased TG elimination
133
Thoracic outlet syndrome
Compression of neuro vascular structures (brachial plexus, subclavian artery/vein) as they pass from lower neck to armpit Caused by trauma, tumors, presence of cervical rib Cervical rib compresses lower trunk (C8-T1) Test for TOS: Adson test- monitor radial pulse and abduct, externally rotate, and extend arm Loss of pulse= compression of subclavian artery by cervical rib or hypertonic scalenes
134
Churg Strauss
Asthma, sinusitis, neuropathy (foot/wrist drop) Eosinophilia, pauci immune glomerulonephritis MPO-ANCA/p ANCA, elevated IgE Palpable purpura Granulomatous, necrotizing vasculitis Can involve heart, GIT, kidneys Tx: steroids, cyclophosphamide
135
Teres minor function
Adducts and external rotates shoulder Innervated by axillary muscle
136
Acute leukemia
Myeloid or lymphoid (blast cells) lose ability to differentiate and have build up of blasts Build up happens in bone marrow—> crowds out normal cells and spill into blood—> anemia (fatigue), thrombocytopenia (bleeding), neutropenia (infections) > 20% blast cells= acute leukemia Build up of lymphoid cells- acute lymphoid leukemia (+ TdT stain) Buildup of myeloid cells- acute myeloid leukemia (+ myeloperoxidase stain and AUER RODS) Down syndrome- high risk acute leukemia
137
Cryoglobulin
Abnormal Igs that form immune complexes and precipitate when cooled below 37. ``` Associated with Multiple myeloma HCV SLE RA ```
138
Reye’s syndrome
Encephalopathy, liver failure and fatty infiltration S/s: vomiting, confusion, seizures, coma Often follows viral illness (influenza, varicella) caused by diffuse mitochondrial insult Assoc with aspirin use in children ASA not for peds, only used in Kawasaki dx
139
Which part of bronchial tree has the highest contribution to total airway resistance?
Segmental bronchi (intermediate sized bronchi)- because of their low total cross sectional area
140
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and ASA)
``` Cervical LAD Desquamating rash Coronary aneurysms Red conjunctivae Strawberry tongue Hand/foot changes ```
141
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
No lactation postpartum Absent menstruation Cold intolerance
142
``` Tay Sachs (ganglioside accumulation) Niemann Pick (sphingomyelin accumulation) Central retinal artery occlusion ```
Cherry red spots on macula
143
LTC4/LTD4
Vasodilators | Bronchoconstriction
144
Aspergillus fumigatus
Fungus Septate hyphae branch at ACUTE angles Causes allergic bronchopulmonary aspergillosis Chronic aspergillosis (including aspergilloma) Invasive aspergillosis in immunocompromised Dx: galactomannan antigen assay Tx IV voriconazole
145
Subependymal giant cell astrocytoma (SEGA)
Lateral ventricular wall tumor composed of large ganglion like cells with prominent nuclei Pathognomonic for tuberous sclerosis- renal angiomyolipomas, ash leaf spots, hamartomas, cardiac rhabdomyoma
146
G6PD Deficiency
X linked recessive Normally, G6PD regenerates reduced glutathione, which is required for eliminating hydrogen peroxide and free radicals In G6PD deficiency- RBCs susceptible to oxidative stress by hydrogen peroxide and free radicals Oxidative stress denatures Hb—> precipitates as Heinz bodies Bite cells can be seen—> macrophages selectively remove part of RBC membranes Usually a symptomatic, sudden surge of oxidative stress (INFECTION, FAVA BEANS, ANTIMALARIALS, NSAIDS) lead to hemolytic crisis
147
Duchenne MD (Gowers sign)
Child uses arms to stand up from squat
148
anti Hu encephalitis
Paraneoplastic encephalomyelitis typically occurs in small cell lung cancer Autoantibodies against neuronal Hu antigens
149
Plummer Vinson syndrome (may progress to esophageal SCC)
``` Esophageal webs (dysphagia) Glossitis Iron deficiency anemia ```
150
Waterhouse Friderichsen syndrome (meningococcemia)
Adrenal hemorrhage Hypotension DIC
151
5 positive acute phase proteins
``` Fibrinogen Ferritin Serum A amyloid hepcidin CRP ``` Stimulated by IL1, IL6, TNF a
152
Candida infections
T cells important for mucosal infections (HIV pts and thrush) Neutrophils important for systemic defense (neutropenic pts and candidemia)
153
Polyarteritis nodosa
Necrotizing vasculitis of small/medium vessels Renal artery involvement 60% cases- pre renal azotemia, HTN Coronary artery involvement can cause CP Messnteric involvement can cause mesenteric ischemia- melena, abdominal pain ASSOC with HBV and HCV Transmural inflammation w fibrinoid necrosis on arterial bx Aneurysms + renal vessel stenosis
154
ACL injury
+ anterior drawer sign
155
Edwards syndrome (trisomy 18)
Microcephaly Rocker bottom feet Clenched hands Structural heart defects
156
Meningioma
Benign, slow growing sharply demarcated mass composed of spindle shaped cells in whorled pattern—> onion peel arrangement Arise from ARACHNOID layer Psamomma bodies- concentric intracellular calcifications Symptoms caused by compression of adjacent brain structures (focal seizures, spastic paralysis from motor cortex compression, personality changes)
157
Buerger’s disease aka thromboangitis obliterans
Medium vessel vasculitis Male smokers Poor blood flow to hands/feet—> gangrene and autoamputation of digits, can have superficial nodular phlebitis (tender nodules over course of vein) Intermittent claudication Raynaud’s syndrome Segmental thrombosing vasculitis with vein and nerve involvement Tx: smoking cessation
158
Glutamate (CNS)
Major excitatory neurotransmitter NMDA receptor is target In Huntington’s- neuronal death from glutamate toxicity—> glutamate binds NMDA receptor, excessive Ca influx, cell death
159
Polyaryeritis nodosa
IMMUNE COMPLEX MEDIATED—> type III HSR HEPATITIS B+ Nerves: motor/sensory deficits Skin: nodules, purpura Kidneys: renal failure “Rosary sign”- series of aneurysms and constrictions on arteriogram of kidney, liver, mesenteric arteries Bx: transmural inflammation of medium vessel wall with FIBRINOID NECROSIS HepB+, nerve deficits, skin nodules, purpura, renal failure Dx with angiogram, Tx: steroids and cyclophosphamide
160
Visceral leishmaniasis
Parasitic disease caused by protozoa of Leishmania genus Transmitter by infected phlebotomine sand fly Presentation: recurrent fever, malaise, wt loss, LAD, hepatosplenomegaly, pancytopenia, edema, kala azar (darkening of skin on hands abs soles) in patient visiting east Africa (Kenya) Tx AMPHOTERICIN B
161
Budd Chiari syndrome (post hepatic venous thrombosis)
Abdominal pain Ascites Hepatomegaly PCV is risk
162
Mitral regurgitation murmur
High pitched holosystolic that radiates to axilla Can present with dyspnea, cough, LHF symptoms (orthopnea, paroxysmal nocturnal dyspnea) Cardiac cath shows rapid increase in LA pressure during ventricular systole LA pressure increases as blood enters atrium both antegrade thru pulmonary veins and retrograde from LV
163
Parkinson disease (loss of dopaminergic neurons in substantial migration pars compacta)
``` Resting tremor Rigidity Akinesia Postural instability Shuffling gait ```
164
CLL
Smudged WBCs | “Crushed Little Lymphocytes”
165
Hypothyroidism
Cold intolerance Weight gain Brittle hair
166
Polymyositis
Endomysial infiltration of CD8+ cells Associated with positive ANA, anti Jo abs Proximal muscle weakness with elevated muscle and inflammatory markers
167
Negative acute phase reactants
Albumin Transferrin Transthyretin Synthesis decreased by IL1, IL6, TNF a
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T cell acute lymphoblastic lymphoma
TdT + Surface markers: CD2-CD8 Presents as THYMIC MASS, in TEENS
169
MEN2B (AD RET mutation)
Thyroid tumors Pheochromacytoma Ganglioneuromatosis Marfanoid habitus
170
Klebsiella PNA
Red currant jelly sputum in diabetic or alcoholic patients
171
Bacterial endocarditis
Splinter hemorrhages in fingernails
172
Plasmin
Main enzyme responsible for clot breakdown Plasminogen converted to plasmin via tissue plasminogen activator (serine protease found on endothelial cells of blood vessels) Recombinant tPa (alteplase, retelplase, tenecteplase used as thrombolytics in pts with ACS, PE, ischemic CVA
173
Plasmodium falciparum
Causes falciparum malaria Found on all continents except Europe Transmitted via Anopheles mosquito Irregular fever spikes, muscle pain, HAs P falciparum is chloroquine resistant
174
UMN damage
Hyperreflexia Hypertonia Babinski sign present
175
B symptoms of malignancy
Fever Night sweats Weight loss
176
Pott disease (vertebral TB)
Back pain Fever Night sweats
177
Babinski sign (UMN lesion)
Toe extension/fanning with plantar scrape
178
Secondary to EPO injection
Athlete with polycythemia
179
McBurneys sign (acute appendicitis)
RLQ pain with deep palpation
180
Meckels diverticulum
MC congenital anomaly of GIT Dt incomplete obliteration of vitelline duct Can have ectopic gastric tissue—> bleeding from Meckels diverticulum
181
Erythema infectiosum/fifth disease (slapped cheeks appearance, caused by parvovirus B19)
Child with fever, later on develops rash on face, rash spreads to body
182
Measles
``` Cough Conjunctivitis Coryza Fever Diffuse rash ```
183
Dermatitis herpetiformis
Associated with Celiac disease Uncommon autoimmune rash with very itchy papules and vesicles on extensor surfaces Caused by IgA and C3 deposition in dermal papilla Resemble herpetic lesions
184
Strongylodiasis
Parasitic infection caused by nematode(round worm) Strongyloides stercoralis Penetrates host via skin and migrates to lungs and intestines Endemic to warm moist areas S/s: fever, abd pain, n/v, SERPUGINOUS RASH, eosinophilia, recent travel to tropics
185
LTB4
Neutrophil, eosinophil chemotaxis
186
Dating error, anencephaly, spina bifida (open neural tube defects)
High AFP in amniotic fluid/maternal serum
187
Spinal cord lesion
Spastic weakness Sensory loss Bowel/bladder dysfunction
188
Pompe disease (lysosomal a1,4 glucosidase deficiency)
Myopathy (infantile hypertrophic cardiomyopathy) | Exercise intolerance
189
Epidural hematoma (middle meningeal artery rupture)
Lucid interval after TBI
190
Subarachnoid hemorrhage
“Worst HA of my life”
191
Myelodysplastic syndrome
Can lead to AML Blast buildup in bone marrow <20% blasts —> NOT AML Pts will have cytopenias: infections, bleeding Can progress to AML if blasts > 20%
192
Meniere disease
Episodic vertigo Tinnitus Hearing loss
193
Myeloid cells
``` Precursor cells of: RBCs Monocytes Granulocytes Megakaryocytes ```
194
Porphyria cutanea tarda
Defective uroporphyrinogen III carboxylase—> accumulation of uroporphyrinogen in skin and chronic photo sensitivity with blistering and hyperpigmentation Blisters on face and dorsum of hands/forearms and dark urine in setting of sunlight exposure Acquired (type I) form typically presents with liver disease Congenital (type III) inherited AD
195
Familial hypercholesterolemia (low LDL signaling)
Achilles’ tendon xanthoma
196
Neurofibromatosis type 2
Bilateral vestibular schwannomas
197
Mycosis fungoides
Cutaneous T cell lymphoma Can progress to Sezary syndrome (T cell leukemia)- systemic symptoms (wt loss, LAD) and CD4 cells with cerebriform shaped nuclei in peripheral blood
198
Reactive arthritis associated with HLA B27
Urethritis Conjunctivitis Arthritis in MALE
199
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dry eyes, mouth | Arthritis
200
Cerebellar lesion
Ataxia Nystagmus Vertigo Dysarthria
201
Lesch Nyhan syndrome (HGPRT deficiency, x linked recessive)
Gout MR SELF MUTILATING BEHAVIOR IN BOY
202
Chvostek sign (hypocalcemia)
Facial muscle spasm upon tapping
203
Emphysema (“pink puffer,” centriacinar (smoking), panacinar (AAT deficiency)
Pink complexion Dyspnea Hyperventilation
204
Cancer of pancreatic head obstructing bile duct
Painless jaundice
205
Platelet disorders (ie Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)
Petechiae Mucosal bleeding Prolonged bleeding time
206
Coxsackie A virus Secondary syphilis Rocky Mountain Spotted Fever
Rash on palms and soles
207
Menetrier disease
Giant hypertrophic gastritis Gastritis characterized by enlarged mucosal folds (rugae) dt hyperplasia of gastric mucosa Causes excess mucus production, protein loss, parietal cell atrophy with decreased acid production S/s: Epigastric pain, weight loss, anorexia, EDEMA SECONDARY TO PROTEIN LOSS
208
Chronic mucocutaneous candidiasis
Defect in AIRE genes AIRE function 1 - associates with dectin receptor, dectin responds to candida antigens Result: recurrent candida infections AIRE function 2 - promotes self antigen production in thymus, self antigens presented to T cells (negative selection) Result- autoimmune T cells—> attack adrenal and parathyroid glands High levels of IL10 T cells fail to react to candida AND endocrine dysfunction Child with recurrent thrush, diaper rash
209
Jarisch Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)
Fever Chills HA Myalgia following abx treatment for syphilis
210
Nitrates overview
Increase release of NO in VSMCs-> smooth muscle relaxation and vasodilation Veins more affected than arteries, Therapeutic value from Venous pooling and decrease in preload AES- hypotension and reflex tachycardia - nitrate induced HA (cerebral artery dilation) - development of tolerance (nitrate fee intervals) - flushing, GERD - CN toxicity after sodium nitroprusside - methemoglobinemia (Hb de 3+ state) - Monday disease Contraindication in RIGHT VENTRICLE FAILURE and cannot take with PDE5 inhibitors, increased ICP
211
Mallory Weiss syndrome (bulimic and alcoholic patients)
Vomiting blood after linear gastroesophageal lacerations
212
Irinotecan, topotecan
Chemos Inhibits topoisomerase I- causes ssDNA breaks—> prevent proper DNA replication, transcription, DNA repair which indices cell cycle arrest at late S phase or early G2
213
Bosentan, macicenten, ambrisenten
Bind and inhibit endothelin1 receptors - endothelium is potent vasoconstrictor therefore blocking it causes vasodilation and reduction in vascular resistance Used in Pulmonary Artery HTN
214
Becker MD (X linked non-frameshift deletion in dystrophin; less severe)
Slow, progressive muscle weakness in boys
215
Hemophilia A
Factor VIII deficiency X linked recessive Presents in boys with recurrent episodes of epistaxis, bruising, hemarthrosis Normal platelet counts, bleeding time, and PT PROLONGED aPTT
216
Osteosarcomas
Malignant osteoblasts that arise from mesenchymal cells within periosteum Increased production of osteosarcoma matrix and formation of poorly organized bone networks Cause periosteal reactions- Codmans triangle and/or sunburst appearance on XR
217
Dermatomyositis
Perimysial inflammation with peri vascular infiltration of CD4+ Capillary damage abs muscle atrophy Symmetrical proximal muscle weakness and skin involvement - Gottrons papules, heliotrope rash, shawl sign Associated with malignancy
218
Acute megakaryoblastic leukemia
No myeloperoxidase Assoc with DOWN SYNDROME before age 5
219
Mesolimbic pathway
Target of antipsychotics in schizophrenia Dopaminergic pathway involved in reward system. Over stimulation can cause positive symptoms (hallucinations)
220
Ehlers Danlos syndrome (type V collagen defect, type III in vascular subtype)
Elastic skin Joint hypermobility Bleeding tendency
221
Acute promyelocytic leukemia (APL) Aka AML M3
AML subtype t(15;17) Retinoic acid receptor dysfunction—> buildup of promyelocytes—> BUILDUP OF AUER RODS—> HIGH coagulation risk—> medical emergency from DIC risk Tx w all trans retinoic acid—> forces blasts to differentiate into neutrophils
222
Basal ganglia lesion
Resting tremor Athetosis Chorea
223
Down syndrome (trisomy 21)
Single palmer crease
224
Drug induced lupus
Fever, joint pins, rash after starting drug + ANTI HISTONE ABS Hydralazine, isoniazid, procainamide
225
Pterion fracture lacerated what vessel?
Middle meningeal artery, which is a branch of the maxillary artery Skull fx at this site can cause laceration to middle meningeal artery and cause epidural hematoma
226
Osteogenesis imperfecta (type I collagen defect)
Blue sclera
227
Kartagner syndrome (dynein arm defect affecting cilia)
AR Situs inversus Chronic sinusitis Bronchiectasis Infertility- both men and women, high risk ectopic pregnancy LOW NASAL NITRIC OXIDE USED AS SCREENING TEST
228
Nephrotic syndrome
Periorbital and/or peripheral edema Proteinuria (> 3.5g/day) Hypoalbuminema Hypercholesterolemia
229
Hyper IgE syndrome (Job syndrome)
Defective CD4+ Th17 LOSS OF ATTRACTION OF NEUTROPHILS Defect of STAT3 signaling HIGH LEVELS OF IgE, high eosinophils Loss of IFN gamma Diffuse eczema, recurrent “cold” abscesses- staph abscesses Recurrent sinusitis, facial deformities, RETAINED PRIMARY TEETH
230
Staphylococcal scalded skin syndrome
Blistering skin disorder results from toxemia after S aureus infection (usually of nasopharynx) Cleavage of DESMOGLEIN 1 by exfoliative toxin- disruption of keratinocyte attachment - fever, malaise, often beings periorally POSITIVE NIKOLSKY SIGN - flaccid, easily ruptured blisters that break and reveal moist red skin (scalded appearance)—> widespread sloughing of epidermal skin NO MUCOSAL INVOLVEMENT
231
Subscapularis function in rotator cuff
Internal rotator of shoulder Originates coastal surface of scapula and insterts into lesser tubercle of humerus Innervated by upper and lower subscapular nerves
232
DKA (Kussmaul respirations)
Deep labored breathing/hyperventilation
233
Gaucher disease (glucocerebrosidase (b-glucosidase) deficiency
``` Hepatosplenomegaly Pancytopenia Osteoporosis AVN femoral head Bone crises ```
234
Courvoisier sign (distal malignant obstruction of biliary tree)
Jaundice | Palpable, painless distended gallbladder
235
Acute myeloid leukemia
AUER RODS- aggregates of myeloperoxidase, ONLY in myeloblasts Adults 50-60
236
Myxedema (caused by hypothyroidism, Graves’ disease (pretibial))
Cutaneous/dermal edema dt deposition of mucopolysaccharides in connective tissue
237
von Hippel Lindau disease (dominant tumor suppressor mutation)
Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromacytomas
238
Amniotic band syndrome
Tear in amnion of amniotic sac exposes multiple loose fibrous bands—> bands entangle and constrict parts of fetus—> breakdown of normal fetal tissue (DISRUPTION) Severe construction can cause autoamputation
239
Wilson disease (Kayser Fleischer rings dt copper accumulation)
Golden brown rings around peripheral cornea
240
Fanconi anemia (genetic loss of crosslink repair; often progresses to AML)
``` Short stature Cafe au lait spots Thumb/radial defects Aplastic anemia High incidence of tumors/leukemia ```
241
Monoblasts AML (acute monocytic leukemia)
Build up of monoblasts Lack myeloperoxidase INFILTRATES GUMS
242
Wet beriberi (thiamine (B1) deficiency)
Dilated cardiomyopathy Edema Alcoholism or malnutrition
243
Gout/podagra (hyperuricemia)
Sudden swollen/ painful big toe | Tophi
244
Granulomatosis with polyangiitis (Wegener’s)
Sinusitis, otits media, hemoptysis, perforation of nasal septum, mastoiditis (upper and lower respiratory involvement) Renal- hematuria and red cell casts Purpura Necrotizing granulomas in lungs/upper airway and necrotizing glomerulonephritis PR3-ANCA/c-ANCA (anti proteinase 3) Tx: steroids, cyclophosphamide
245
Marfan syndrome (fibrillin defect)
Arachnodactyly Lens dislocation (UPWARD and OUT) Aortic dissection Hyperflexible joints
246
LMN facial nerve (CN VII) palsy; UMN lesions spare forehead
Unilateral facial drooping involving forehead
247
Phencyclidine (angel dust, PCP)
Stimulant drug that activates glutamate receptors and antagonizes NMDA receptors—> dissociative hallucinations Ingested by smoking it S/s: violent abnormal behavior, nystagmus, HTN, hyperthermia Tx: benzodiazepines for agitation and haldol for psychosis
248
Tuberous sclerosis
Mutation in tumor suppressors TSC1 (hamartin) or TSC2 (tuberin)—> altered hamartin-tuberin complex—> cannot switch off mTOR—>benign tumors Autosomal dominant In brain: glioneural hamartomas, subependymal nodules, high risk of subependymal giant cell astrocytoma Skin: angiofibromas, subungual fibromas, ash leaf spots, shagreen spot Renal: angiomyolipomas Lungs: lymphangioleiomyomatomatosis- normal tissue replaced by cysts Retina: retinal hamartomas S/s: seizures, MR, flank pain, SOB, vision changes
249
Roth spots (bacterial endocarditis)
Retinal hemorrhage with pale centers
250
Tachyphylaxis
Rapid, diminished response to consecutive doses of a drug dt depletion of endogenous mediators Ie NIACIN, NITROGLYCERIN, PHENYLEPHRINE, LSD, MDMA