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Presentations Flashcards

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
Q

Kluver Bucy syndrome (bilateral amygdala lesion)

A

Hyperphagia
Hypersexuality
Hyperorality

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26
Q

IgA deficiency

A

Anaphylaxis after blood transfusion

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27
Q

Hyper IgM syndrome

A

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

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28
Q

Neurofibromatosis type 1

A 
Cafe au lait spots
Loach nodules (iris hamartoma)
Cutaneous neurofibromas
Pheochromacytomas 
Optic gliomas
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29
Q

Hyperchloremic metabolic acidosis

A

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
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30
Q

Osler nodes (infective endocarditis, immune complex deposition)

A

Painful, red raised lesions on finger/toe pads

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31
Q

Burton line (lead poisoning)

A

Bluish line on gingiva

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32
Q

PKU

A

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

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33
Q

LMN damage

A

Hyporeflexia
Hypotonia
Atrophy
Fasciculations

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34
Q

Rovsing sign (acute appendicitis)

A

RLQ pain with LLQ palpation

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35
Q

Lymphoid cells

A

Precursors of:

B or T cells

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36
Q

Pancreatic pseudocyst

A

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

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37
Q

Lichen planus

A

Pruritic
Purple
Polygonal planar applies and plaques

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38
Q

Congenital toxoplasmosis

A

Chorioretinitis
Hydrocephalus
Intracranial calcifications

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39
Q

Scarlet fever OR Kawasaki disease

A

Strawberry tongue

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40
Q

Neurosyphilis (Argyll Robertson pupil)

A

Pupil accommodates, but does not react

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41
Q

Muscular dystrophy (MC Duchenne dt X linked recessive frameshift mutation of dystrophin gene)

A

Calf pseudohypertrophy

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42
Q

Sarcoidosis (non caseating granulomas)

A

Bilateral hilar adenopathy

Uveitis, conjunctival injection

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43
Q

Factor V Leiden

A

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)

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44
Q

Aortic stenosis

A

Systolic ejection murmur

Crescendo- decrescendo

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45
Q

Bruton disease (X linked agammaglobulinemia)

A

Male child, recurrent infections, NO MATURE B CELLS

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46
Q

Bruner glands location

A

Sub mucosa of duodenum

Secrete bicarbonate

Undergo hyperplasia as a protective mechanism in its with PUD

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47
Q

McCune Albright syndrome (Gs activating mutation)

A

Unilateral cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Endocrine abnormalities

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48
Q

Nevis flammeus (benign, associated with Sturgeon Weber syndrome)

A

Vascular birthmark (portwine stain) on face

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49
Q

PGE2

A 
Redness (vasodilation)
Edema (permeability)
Fever (hypothalamus)
Pain (nerves)
Renal vasodilation (afferent)
GI mucosa protection
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50
Q

Goodpasture’s syndrome

A

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

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51
Q

Turner syndrome (45XO)

A 
Streak ovaries
Congenital heart disease 
Horseshoe kidney
Cystic hygroma at birth
Short stature 
Webbed neck
Lymphadema
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52
Q

Dressier syndrome (autoimmune mediated post MI fibrinous pericarditis, 2 weeks to months after acute MI)

A

Chest pain
Pericardial effusion/friction rub
Persistent fever after MI

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53
Q

Essential tremor

A

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

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54
Q

Ataxia telangiectasia

A

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

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55
Q

Narcolepsy

A

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

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56
Q

Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)

A

Large rash with bull’s eye appearance

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57
Q

Hashimoto thyroiditis biopsy findings

A

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

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58
Q

Non painful, indurated ulcerated genital lesion

A

Chancre (primary syphilis, T pallium)

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59
Q

Hereditary spherocytosis

A

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

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60
Q

Multiple sclerosis

A

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia

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61
Q

Myofibroblasts

A

Generate contractile force that draws wound edges together

Excessive proliferation and persistence of myofibroblasts lead to pathological fibrosis and contracture

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62
Q

Cryoglobulinemic vasculitis

A

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

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63
Q

Alport syndrome (mutation in collagen IV)

A

Hereditary nephritis
Sensorineural hearing loss
Retinopathy
Lens dislocation

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64
Q

Osteitis deformans (Paget disease of bone, high osteoblasts and osteoclastic activity)

A

Bone pain
Bone enlargement
Arthritis

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65
Q

Succinylcholine MOA and AE

A

Persistent depolarization of motor end plate—> flaccid skeletal paralysis

AE: malignant hyperthermia and hyperkalemia

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66
Q

Fanconi syndrome (multiple combined dysfunction of PCT)

A 
Polyuria
RTA type II
Growth failure 
Electrolyte imbalances 
Hypophosphatemic rickets
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67
Q

Mast cell degranulation releases (4)

A

TRYPTASE
Histamine
Heparin
Eosinophilic chemotactic factors

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68
Q

Eosin 5 maleimade binding test

A

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

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69
Q

Lymphogranuloma venereum

A

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

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70
Q

anti NMDA encephalitis

A

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

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71
Q

Angina (stable: with moderate exertion; unstable: with minimal or no exertion)

A

Chest pain on exertion

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72
Q

EDS type III

A

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

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73
Q

Bullous pemphigoid

A

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

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74
Q

Osteitis deformans

A

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

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75
Q

Biliary atresia

A

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

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76
Q

Enterotoxigenic E. coli (ETEC)

A

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

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77
Q

Tricyclic antidepressants (TCAs) toxicity- 3Cs

A
  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

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78
Q

Vitiligo

A

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

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79
Q

Metyrapone stimulation test

A

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

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80
Q

Virchow node (abdominal metastasis)

A

Enlarged, hard LEFT supraclavicular LN

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81
Q

Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)

A

Conjugate horizontal gaze palsy

Horizontal diplopia

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82
Q

Poststreptococcal glomerulonephritis

A

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

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83
Q

Paget disease of breast (sign of underlying neoplasm)

A

Red, itchy, swollen rash of nipple/areola

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84
Q

Wiskott Aldrich syndrome

A

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

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85
Q

Chronic bronchitis (hyperplasia of mucus cells, “blue bloater”)

A

Hypoxemia
Polycythemia
Hypercapnea

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86
Q

Painful, with exudate ulcerated genital lesion

A

Chanchroid (Haemophilus ducreyi)

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87
Q

Leukocyte Adhesion Deficiency

A

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

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88
Q

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

A

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

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89
Q

C diff infection

A

Abdominal pain
Diarrhea
Leukocytosis
Recent abx use

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90
Q

Langerhans cells

A

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

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91
Q

Hydropic degeneration

A

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

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92
Q

Erb Duchenne palsy (superior trunk (C5-C6) brachial plexus injury)

A

Waiter’s tip arm position

Arm paralysis after difficult birth

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93
Q

Cidofovir

A

Viral DNA polymerase inhibitor that DOES NOT REQUIRE PHOSPHORYLATION by viral kinase to function

Can be used in pts with seizure disorder

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94
Q

Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; high GI cancer risk)

A

Hamartomatous GI polyps

Hyperpigmented macules on mouth/feet/genitals/hands

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95
Q

Henoch Schonlein purpura

A

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

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96
Q

Warfarin induced skin necrosis

A

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

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97
Q

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

A

Painless red lesions on palms and soles

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98
Q

MEN1 (AD)

A

Pancreatic
Pituitary
Parathyroid tumors

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99
Q

PDA (close with indomethacin, keep open with PGE analogs)

A

Continuous machine like murmur

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100
Q

Neurepileptic Malignant syndrome

A

Pts on dopamine blockers (haldol)

Muscle rigidity, fever, AMS, autonomic instability

LEAD PIPE RIGIDITY, HIGH CK
- muscles fixed and contracted

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101
Q

Hereditary hemorrhagic telangiectasia (Osler Weber Rendu syndrome)

A 
Telangiectasias
Recurrent epistaxis
Skin discoloration 
AVMs
GI bleed
Hematuria
102
Q

Pasteurella multocida (cellulitis at inoculation site)

A

Dog or cat bite resulting in infection

103
Q

Ataxia telangiectasia

A

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
Q

Central chromatolysis

A

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
Q

Spinal cord compression

A

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
Q

SLE

A

Butterfly facial rash and Raynaud phenomena in females

107
Q

NF1

A

AD or spontaneous mutation of tumor suppressor NF1 on CHROM 17

Neurofibromas
Cafe au lait spots
Lisch nodules
MR
Seizures - meningiomas
Pheochromacytomas
108
Q

Paroxysmal nocturnal hemoglobinuria

A

Red/pink urine

Fragile RBCs

109
Q

Meigs syndrome

A

Simultaneous occurrence of benign ovarian tumor (ovarian fibroma), as cities, and pleural effusion (usually right sided)

Ovarian fibroma have SPINDLE SHAPED CELLS

110
Q

Carcinoid syndrome (R sided cardiac valve lesions, high 5 HIAA)

A

Cutaneous flushing
Diarrhea
Bronchospasm

111
Q

anti Yo antibodies cause what?

A

Paraneoplastic cerebellar degeneration - ataxia, nystagmus, dysmetria, dysarthria

Abs against Purkinje cells

Caused by breast, ovarian, endometrial cancers

112
Q

Ataxia telangiectasia

A

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
Q

Serotonin syndrome

A

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
Q

Condylomata lata (secondary syphilis)

A

Smooth, moist, painless, wart like lesions on genitals

115
Q

Fibrates MOA

A

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
Q

Terbinafine MOA

A

Inhibits fungal squalene epoxidase- enzyme for fungal sterol synthesis

Resulting deficiency of ergosterol within fungal cell membrane —> cell death

117
Q

Raynaud phenomenon (vasospasm in extremities)

A

Painful fingers/toes changing color from white to blue to red with cold or stress

118
Q

Hereditary fructose intolerance

A

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
Q

Pleiotropy

A

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
Q

MEN2A (AD RET mutation)

A

Thyroid
Parathyroid tumors
Pheochromacytomas

121
Q

Gardner syndrome (FAP subtype)

A

Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth

122
Q

Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

A

Rapidly progressive limb weakness that ascends following GI/respiratory infection

Assoc with C. jejuni infection

123
Q

Carbamoyl phosphate synthetase 1

A

Urea cycle disorder

124
Q

Aortic regurgitation

A

Bounding pulses
Wide pulse pressure
Diastolic murmur
Head bobbing

125
Q

Primary adrenocortical insufficiency—> High ACTH, high MSH (ie Addison dx)

A

Skin hyperpigmentation
Hypotension
Fatigue

126
Q

Microscopic polyangiitis

A

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
Q

Crigler Najjar syndrome (congenital unconjugated hyperbilirubinemia)

A

Severe jaundice in neonate

128
Q

Patau syndrome (trisomy 13)

A

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

129
Q

Mucor or Rhizopus fungal infection

A

Black eschar on patient with DKA

130
Q

Radiation induced what type of cell damage?

A
  1. DNA ds breaks

2. Formation of free radicals

131
Q

Slipped capital femoral epiphysis

A

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
Q

Fenofibrate MOA

A

Activation of lipoprotein lipase—> increased TG elimination

133
Q

Thoracic outlet syndrome

A

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
Q

Churg Strauss

A

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
Q

Teres minor function

A

Adducts and external rotates shoulder

Innervated by axillary muscle

136
Q

Acute leukemia

A

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
Q

Cryoglobulin

A

Abnormal Igs that form immune complexes and precipitate when cooled below 37.

Associated with 
Multiple myeloma 
HCV
SLE
RA
138
Q

Reye’s syndrome

A

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
Q

Which part of bronchial tree has the highest contribution to total airway resistance?

A

Segmental bronchi (intermediate sized bronchi)- because of their low total cross sectional area

140
Q

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and ASA)

A 
Cervical LAD
Desquamating rash
Coronary aneurysms 
Red conjunctivae 
Strawberry tongue 
Hand/foot changes
141
Q

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

A

No lactation postpartum
Absent menstruation
Cold intolerance

142
Q 
Tay Sachs (ganglioside accumulation)
Niemann Pick (sphingomyelin accumulation)
Central retinal artery occlusion
A

Cherry red spots on macula

143
Q

LTC4/LTD4

A

Vasodilators

Bronchoconstriction

144
Q

Aspergillus fumigatus

A

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
Q

Subependymal giant cell astrocytoma (SEGA)

A

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
Q

G6PD Deficiency

A

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
Q

Duchenne MD (Gowers sign)

A

Child uses arms to stand up from squat

148
Q

anti Hu encephalitis

A

Paraneoplastic encephalomyelitis typically occurs in small cell lung cancer

Autoantibodies against neuronal Hu antigens

149
Q

Plummer Vinson syndrome (may progress to esophageal SCC)

A 
Esophageal webs (dysphagia)
Glossitis 
Iron deficiency anemia
150
Q

Waterhouse Friderichsen syndrome (meningococcemia)

A

Adrenal hemorrhage
Hypotension
DIC

151
Q

5 positive acute phase proteins

A 
Fibrinogen
Ferritin
Serum A amyloid
hepcidin
CRP

Stimulated by IL1, IL6, TNF a

152
Q

Candida infections

A

T cells important for mucosal infections (HIV pts and thrush)

Neutrophils important for systemic defense (neutropenic pts and candidemia)

153
Q

Polyarteritis nodosa

A

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
Q

ACL injury

A

+ anterior drawer sign

155
Q

Edwards syndrome (trisomy 18)

A

Microcephaly
Rocker bottom feet
Clenched hands
Structural heart defects

156
Q

Meningioma

A

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
Q

Buerger’s disease aka thromboangitis obliterans

A

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
Q

Glutamate (CNS)

A

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
Q

Polyaryeritis nodosa

A

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
Q

Visceral leishmaniasis

A

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
Q

Budd Chiari syndrome (post hepatic venous thrombosis)

A

Abdominal pain
Ascites
Hepatomegaly
PCV is risk

162
Q

Mitral regurgitation murmur

A

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
Q

Parkinson disease (loss of dopaminergic neurons in substantial migration pars compacta)

A 
Resting tremor
Rigidity
Akinesia 
Postural instability 
Shuffling gait
164
Q

CLL

A

Smudged WBCs

“Crushed Little Lymphocytes”

165
Q

Hypothyroidism

A

Cold intolerance
Weight gain
Brittle hair

166
Q

Polymyositis

A

Endomysial infiltration of CD8+ cells

Associated with positive ANA, anti Jo abs

Proximal muscle weakness with elevated muscle and inflammatory markers

167
Q

Negative acute phase reactants

A

Albumin
Transferrin
Transthyretin

Synthesis decreased by IL1, IL6, TNF a

168
Q

T cell acute lymphoblastic lymphoma

A

TdT +

Surface markers: CD2-CD8

Presents as THYMIC MASS, in TEENS

169
Q

MEN2B (AD RET mutation)

A

Thyroid tumors
Pheochromacytoma
Ganglioneuromatosis
Marfanoid habitus

170
Q

Klebsiella PNA

A

Red currant jelly sputum in diabetic or alcoholic patients

171
Q

Bacterial endocarditis

A

Splinter hemorrhages in fingernails

172
Q

Plasmin

A

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
Q

Plasmodium falciparum

A

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
Q

UMN damage

A

Hyperreflexia
Hypertonia
Babinski sign present

175
Q

B symptoms of malignancy

A

Fever
Night sweats
Weight loss

176
Q

Pott disease (vertebral TB)

A

Back pain
Fever
Night sweats

177
Q

Babinski sign (UMN lesion)

A

Toe extension/fanning with plantar scrape

178
Q

Secondary to EPO injection

A

Athlete with polycythemia

179
Q

McBurneys sign (acute appendicitis)

A

RLQ pain with deep palpation

180
Q

Meckels diverticulum

A

MC congenital anomaly of GIT

Dt incomplete obliteration of vitelline duct

Can have ectopic gastric tissue—> bleeding from Meckels diverticulum

181
Q

Erythema infectiosum/fifth disease (slapped cheeks appearance, caused by parvovirus B19)

A

Child with fever, later on develops rash on face, rash spreads to body

182
Q

Measles

A 
Cough
Conjunctivitis 
Coryza 
Fever
Diffuse rash
183
Q

Dermatitis herpetiformis

A

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
Q

Strongylodiasis

A

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
Q

LTB4

A

Neutrophil, eosinophil chemotaxis

186
Q

Dating error, anencephaly, spina bifida (open neural tube defects)

A

High AFP in amniotic fluid/maternal serum

187
Q

Spinal cord lesion

A

Spastic weakness
Sensory loss
Bowel/bladder dysfunction

188
Q

Pompe disease (lysosomal a1,4 glucosidase deficiency)

A

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

189
Q

Epidural hematoma (middle meningeal artery rupture)

A

Lucid interval after TBI

190
Q

Subarachnoid hemorrhage

A

“Worst HA of my life”

191
Q

Myelodysplastic syndrome

A

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
Q

Meniere disease

A

Episodic vertigo
Tinnitus
Hearing loss

193
Q

Myeloid cells

A 
Precursor cells of:
RBCs
Monocytes
Granulocytes 
Megakaryocytes
194
Q

Porphyria cutanea tarda

A

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
Q

Familial hypercholesterolemia (low LDL signaling)

A

Achilles’ tendon xanthoma

196
Q

Neurofibromatosis type 2

A

Bilateral vestibular schwannomas

197
Q

Mycosis fungoides

A

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
Q

Reactive arthritis associated with HLA B27

A

Urethritis
Conjunctivitis
Arthritis in MALE

199
Q

Sjogren syndrome (autoimmune destruction of exocrine glands)

A

Dry eyes, mouth

Arthritis

200
Q

Cerebellar lesion

A

Ataxia
Nystagmus
Vertigo
Dysarthria

201
Q

Lesch Nyhan syndrome (HGPRT deficiency, x linked recessive)

A

Gout
MR
SELF MUTILATING BEHAVIOR IN BOY

202
Q

Chvostek sign (hypocalcemia)

A

Facial muscle spasm upon tapping

203
Q

Emphysema (“pink puffer,” centriacinar (smoking), panacinar (AAT deficiency)

A

Pink complexion
Dyspnea
Hyperventilation

204
Q

Cancer of pancreatic head obstructing bile duct

A

Painless jaundice

205
Q

Platelet disorders (ie Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)

A

Petechiae
Mucosal bleeding
Prolonged bleeding time

206
Q

Coxsackie A virus
Secondary syphilis
Rocky Mountain Spotted Fever

A

Rash on palms and soles

207
Q

Menetrier disease

A

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
Q

Chronic mucocutaneous candidiasis

A

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
Q

Jarisch Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)

A

Fever
Chills
HA
Myalgia following abx treatment for syphilis

210
Q

Nitrates overview

A

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
Q

Mallory Weiss syndrome (bulimic and alcoholic patients)

A

Vomiting blood after linear gastroesophageal lacerations

212
Q

Irinotecan, topotecan

A

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
Q

Bosentan, macicenten, ambrisenten

A

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
Q

Becker MD (X linked non-frameshift deletion in dystrophin; less severe)

A

Slow, progressive muscle weakness in boys

215
Q

Hemophilia A

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
Q

Osteosarcomas

A

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
Q

Dermatomyositis

A

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
Q

Acute megakaryoblastic leukemia

A

No myeloperoxidase

Assoc with DOWN SYNDROME before age 5

219
Q

Mesolimbic pathway

A

Target of antipsychotics in schizophrenia

Dopaminergic pathway involved in reward system. Over stimulation can cause positive symptoms (hallucinations)

220
Q

Ehlers Danlos syndrome (type V collagen defect, type III in vascular subtype)

A

Elastic skin
Joint hypermobility
Bleeding tendency

221
Q

Acute promyelocytic leukemia (APL) Aka AML M3

A

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
Q

Basal ganglia lesion

A

Resting tremor
Athetosis
Chorea

223
Q

Down syndrome (trisomy 21)

A

Single palmer crease

224
Q

Drug induced lupus

A

Fever, joint pins, rash after starting drug

+ ANTI HISTONE ABS

Hydralazine, isoniazid, procainamide

225
Q

Pterion fracture lacerated what vessel?

A

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
Q

Osteogenesis imperfecta (type I collagen defect)

A

Blue sclera

227
Q

Kartagner syndrome (dynein arm defect affecting cilia)

A

AR

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility- both men and women, high risk ectopic pregnancy

LOW NASAL NITRIC OXIDE USED AS SCREENING TEST

228
Q

Nephrotic syndrome

A

Periorbital and/or peripheral edema
Proteinuria (> 3.5g/day)
Hypoalbuminema
Hypercholesterolemia

229
Q

Hyper IgE syndrome (Job syndrome)

A

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
Q

Staphylococcal scalded skin syndrome

A

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
Q

Subscapularis function in rotator cuff

A

Internal rotator of shoulder

Originates coastal surface of scapula and insterts into lesser tubercle of humerus

Innervated by upper and lower subscapular nerves

232
Q

DKA (Kussmaul respirations)

A

Deep labored breathing/hyperventilation

233
Q

Gaucher disease (glucocerebrosidase (b-glucosidase) deficiency

A 
Hepatosplenomegaly
Pancytopenia 
Osteoporosis 
AVN femoral head 
Bone crises
234
Q

Courvoisier sign (distal malignant obstruction of biliary tree)

A

Jaundice

Palpable, painless distended gallbladder

235
Q

Acute myeloid leukemia

A

AUER RODS- aggregates of myeloperoxidase, ONLY in myeloblasts

Adults 50-60

236
Q

Myxedema (caused by hypothyroidism, Graves’ disease (pretibial))

A

Cutaneous/dermal edema dt deposition of mucopolysaccharides in connective tissue

237
Q

von Hippel Lindau disease (dominant tumor suppressor mutation)

A

Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromacytomas

238
Q

Amniotic band syndrome

A

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
Q

Wilson disease (Kayser Fleischer rings dt copper accumulation)

A

Golden brown rings around peripheral cornea

240
Q

Fanconi anemia (genetic loss of crosslink repair; often progresses to AML)

A 
Short stature 
Cafe au lait spots
Thumb/radial defects 
Aplastic anemia 
High incidence of tumors/leukemia
241
Q

Monoblasts AML (acute monocytic leukemia)

A

Build up of monoblasts
Lack myeloperoxidase

INFILTRATES GUMS

242
Q

Wet beriberi (thiamine (B1) deficiency)

A

Dilated cardiomyopathy
Edema
Alcoholism or malnutrition

243
Q

Gout/podagra (hyperuricemia)

A

Sudden swollen/ painful big toe

Tophi

244
Q

Granulomatosis with polyangiitis (Wegener’s)

A

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
Q

Marfan syndrome (fibrillin defect)

A

Arachnodactyly
Lens dislocation (UPWARD and OUT)
Aortic dissection
Hyperflexible joints

246
Q

LMN facial nerve (CN VII) palsy; UMN lesions spare forehead

A

Unilateral facial drooping involving forehead

247
Q

Phencyclidine (angel dust, PCP)

A

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
Q

Tuberous sclerosis

A

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
Q

Roth spots (bacterial endocarditis)

A

Retinal hemorrhage with pale centers

250
Q

Tachyphylaxis

A

Rapid, diminished response to consecutive doses of a drug dt depletion of endogenous mediators

Ie NIACIN, NITROGLYCERIN, PHENYLEPHRINE, LSD, MDMA

Rapid Review (5 decks)

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