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AA_Rapid Review > Diagnoses > Flashcards

Diagnoses Flashcards

1
Q

↑ Testosterone, ↑ LH

A

Defective androgen receptor

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2
Q

↑ Testosterone, ↓ LH

A

Testosterone-secreting tumor, exogenous steroids

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3
Q

↓ Testosterone, ↑ LH

A

Primary Hypogonadism

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4
Q

↓ Testosterone, ↓ LH

A

Hypogonadotropic Hypogonadism

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5
Q

Ovaries present, but external genitalia are virilized or ambiguous

A

Female pseudo-hermaphroditism (XX)
- due to excessive & inappropriate exposure to androgenic steroids during early gestation (i.e. congenital adrenal hyperplasia or exogenous administration of androgens during early pregnancy)

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6
Q

Testes present, but external genitalia are female or ambiguous

A

Male pseudo-hermaphroditism (XY)

- most common form is androgen insensitivity syndrome (testicular feminization)

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7
Q

<35 yr old woman w/ small, mobile, firm breast mass w/ sharp edges that ↑ size & tenderness w/ pregnancy

A

Fibroadenoma
(NOT a precursor to breast cancer)
(pregnancy = ↑ estrogen)

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8
Q

Small tumor that grows in lactiferous ducts. Typically beneath areola.
Serous or bloody discharge.

A

Intraductal papilloma

slight ↑ risk for carcinoma

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9
Q

Large bulky mass of connective breast tissue & cysts. “Leaf-like” projections. Age = 60s

A

Phylloides tumor

some may become malignant

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10
Q

Breast mass that fills ductal lumen & arises from ductal hyperplasia. No basement membrane penetration.

A

Ductal Carcinoma in situ (DCIS)

subtype w/ caseous necrosis = Comedocarcinoma

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11
Q

Firm, fibrous “rock hard” mass w/ sharp margins & small, glandular, duct-like cells. Classic “stellate” morphology

A

Invasive ductal tumor

worst & most invasive – also most common

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12
Q

Breast tumor w/ orderly row of cells (“Indian file”). Bilateral w/ multiple lesions in the same location

A

Invasive lobular tumor

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13
Q

Breast mass w/ fleshy, cellular lymphocytic infiltrate

A 
Medullary tumor (invasive)
(good prognosis)
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14
Q

Dermal lymphatic invasion by breast carcinoma. Peau d’orange; neoplastic cells block lymphatic drainage

A

Inflammatory breast cancer

50% survival @ 5 years

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15
Q

Eczematous patches on nipple. Paget cells = large cells in epidermis w/ clear halo.

A

Paget’s disease of breast.

Suggests underlying DCIS. Also seen on vulva.

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16
Q

Most common cause of acute mastitis

A

S. aureus

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17
Q

Elevated α-fetoprotein (AFP) & AChE in amniotic fluid during pregnancy

A

Neural tube defect (ass’d w/ low Folate)

  • Spina bifida (Dura intact)
  • Meningocele (meninges herniate)
  • Meningmyelocele (meninges & SC herniate)
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18
Q

Acute paralysis & “locked-in syndrome” during correction of electrolytes in hospital

A

Central Pontine Myelinolysis

  • Massive axonal demyelination in pontine white matter tracts due to iatrogenic, overly rapid correction of Na+ levels –hyponatremia
  • apparent on MRI w/ FLAIR
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19
Q

Stroke causing voice hoarseness & dysphagia

A

Lateral medullary (Wallenberg’s) syndrome

  • damage to nucleus ambiguous from PICA lesion
  • don’t “PICk A” “HORSE” that “can’t eat”
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20
Q

Stroke causing Ataxia, Dysmetria

A

Middle & Inferior Cerebellar Peduncles

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21
Q

LMN lesions ONLY, causing flaccid paralysis (2 possible dxs)

A

Poliomyelitis
- LMN lesion w/ signs of infection (CSF)

Werdnig-Hoffman disease
- congenital - “floppy baby” w/ hypotonia & tongue fasciculations (AR)

(both due to destruction of Anterior Horn)

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22
Q

α-synuclein defect causes…

2 possible Dxs

A

Parkinson’s Disease
&
Lewy Body Dementia
(Parkinsonism w/ dementia & hallucinations)

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23
Q

Spherical tau protein aggregation in Frontotemporal lobe

A

Pick’s Disease
(dementia, aphasia, parkinsonian Sx;
change in personality)

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24
Q

Brain tumor w/ eosinophilic corkscrew fibers

A

Pilocytic Astrocytoma (Rosenthal fibers)

  • Children, posterior fossa (cerebellum), benign
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25
Q

Brain tumor w/ Homer-Wright Rosettes

A

Medulloblastoma (also has small blue cells)

  • highly malignant, cerebellar, compresses 4th ventricle – hydrocephalus
  • primitive neuroectoderm
  • can cause “dropped metastasis” to SC
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26
Q

Brain tumor w/ perivascular pseudorosettes & basal ciliary bodies

A

Ependymoma

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27
Q

Brian tumor w/ foamy cells & high vascularity

A

Hemangioblastoma

  • ass’d w/ von Hippel Lindau when found w/ retinal angioma
  • can produce EPO – polycythemia
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28
Q

Brain tumor w/ bitemporal hemianopia that is NOT a pituitary adenoma

A

Craniopharyngioma

  • from remnants of Rathke’s pouch
  • calcification common
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29
Q

Bone is replaced by fibroblasts, collagen, & irregular bony trabeculae

A

Polyostotic Fibrous Dysplasia

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30
Q

Female child w/ precocious puberty, multiple unilateral bone lesions, & cafe-au-lait spots

A

McCune-Albright Syndrome

a form of polyostotic fibrous dysplasia

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31
Q

Dry eyes, dry mouth, & parotid enlargement in a 40-60 yr-old female

A

Sjogren’s Syndrome

  • autoantibodies to ribonucleoprotein antigens: SS-A (Ro), SS-B (La)
  • Lymphocytic infiltration of exocrine glands
  • ass’d w/ Rheumatoid Arthritis
32
Q

Conjuctivitis, Urethritis, & Arthritis

A

Reactive Arthritis (Reiter’s Syndrome)

33
Q

anti-Smith antibodies

A

Systemic Lupus Erythematosus

very specific, but not prognostic
Others: ANA, anti-dsDNA, & anti-histone (drug-induced)

34
Q

Pain & stiffness in shoulders & hips w/ NO ass’d muscle weakness in woman >50 yrs.

A

Polymyalgia Rheumatica

  • ass’d w/ Temporal Giant Cell Arteritis
  • inc’d ESR, normal CK
35
Q

Metaplasia “mass” of skeletal muscle to bone @ site of previous trauma (Jake’s shoulder)

A

Myositis ossificans

36
Q

Young child with fatty diarrhea, failure to thrive (malabsorption), & neurologic manifestations. Labs show decreased cholesterol in blood.

A

Abetalipoproteinemia

  • dec’d synthesis of apolipoprotein B leads to inability to generate chylomicrons, & therefore dec’d secretion of cholesterol & VLDL into bloodstream. Fat accumulates in the enterocytes.
37
Q

Gastric hypertrophy w/ protein loss, parietal cell atrophy, & inc’d mucous cells.
Rugae of stomach look like brain gyri.

A

Menetrier’s Disease (precancerous)

rugae of stomach are so hypertrophied they look like brain gyri

38
Q

Stomach cancer often presents w/ what skin condition?

A

Acanthosis nigricans

39
Q

Stomach wall grossly looks thickened & leathery. Histology shows signet ring cells.

A

Diffuse Stomach Cancer
(not ass’d w/ H. pylori, in contrast to intestinal stomach cancer which commonly presents on lesser curvature)

  • Gross appearance otherwise known as “Linitis Plastica”
40
Q

Recurrent abdominal pain that improves w/ defecation and frequent diarrhea

A

Irritable bowel syndrome

Recurrent abdominal pain ass’d w/ at least 2 of following:

  • pain improves w/ defecation
  • change in stool frequency
  • change in appearance of stool
41
Q

Bilious vomiting in newborn w/ proximal stomach distention & “double bubble” appearance on X-ray

A

Duodenal atresia

failure of recanalization of small bowel. Ass’d w/ Down Syndrome

42
Q

Multiple hamartomas throughout GI tract along w/ hyperpigmented mouth, lips, hands, & genitalia

A

Peutz-Jeghers Syndrome

  • AD
  • single polyps are not malignant
  • ass’d w/ inc’d risk of CRC & other visceral malignancies
43
Q

Multiple polyps in GI tract of child <5 yrs. w/ 80% of polyps located in rectum.

A

Juvenil Polyposis Syndrome

  • inc’d risk of adenocarcinoma (CRC)
44
Q

Pancolonic involvement of multiple (thousands) colonic polyps, osseous & soft tissue tumors, & congenital hypertrophy of retinal pigment epithelium

A

Gardner’s Syndrome

FAP (AD mutation of APC gene on chromosome 5q)
+
Osseous & soft tissue tumors, congenital hypertrophy of retinal pigment epithelium

45
Q

FAP + Malignant CNS tumor

A

Turcot’s Syndrome

46
Q

a) Inherited CRC; rectum always involved

b) Inherited CRC; proximal colon always involved

A

a) Familial Adenomatous Polyposis (FAP) – AD mutation of APC gene (tumor suppressor, 2-hit)
b) Hereditary Nonpolyposis Colorectal Cancer (HNPCC/Lynch Syndrome) – AD mutation of DNA mismatch repair genes; ~80% progress to CRC

47
Q

Wheezing, right-sided heart murmur, diarrhea, flushing. “Dense core bodies” seen on EM.

A

Carcinoid tumor that has metastasized outside of GI system

liver metabolizes 5HT, so if confined to GI then no carcinoid symptoms

48
Q

Newborn with absent UDP-glucuronyl transferase

A

Crigler-Najjar Syndrome

  • Jaundice, kernicterus (bilirubin deposits in brain), inc’d unconjugated bilirubin
  • Type 1: presents early in life, patients die w/in a few years
  • Type 2: less severe, responds to Phenobarbitol, which inc’s liver enzyme synthesis
49
Q

Mildly decreased UDP-glucuronyl transferase

A

Gilbert’s Syndrome (also caused by dec’d bilirubin uptake by liver cells)

  • bilirubin inc’s w/ fasting & stress
50
Q

Normocytic, Normochromic anemia – Intravascular or Extravascular?

↓ Haptoglobin
↑ LDH
Hemoglobin in urine

A

Intravascular hemolysis

PNH, mechanical destruction

51
Q

Normocytic, Normochromic anemia – Intravascular or Extravascular Hemolysis?

↑ LDH
↑ UCB (jaundice)

A

Extravascular Hemolysis

52
Q 
Normocytic Anemia
↓ Iron
↓ TIBC
↑ Ferritin
↑ FEP
A

Anemia of chronic disease

can become microcytic, hypochromic

53
Q

Hemolytic anemia in a newborn

A

Pyruvate Kinase deficiency

  • AR
  • ↓ ATP → rigid RBCs
54
Q

Hemolytic anemia, pancytopenia, & venous thrombosis

A

Paroxysmal Nocturnal Hemoglobinuria (classic triad)

Labs: CD55/59-negative RBCs

Tx = Eculizumab

55
Q

↓ Iron
↑ Transferrin (or TIBC, same thing)
↓ Ferritin
↓↓ Transferrin saturation (serum iron/TIBC)

A

Primary iron deficiency

look at Ferritin to diff. from anemia of chronic disease

56
Q

↑ Iron
↓ TIBC
↑ Ferritin
↑↑ Transferrin saturation

A

Hemochromatosis

57
Q

↑ Transferrin

↓ Transferrin saturation

A

Pregnancy or OCP use

primary = ↑ Transferrin

58
Q

Painful abdomen, port-wine colored urine, polyneuropathy, psychological disturbances, precipitated by drugs

A

Acute Intermittent Porphyria (5 Ps)

  • Defect = Porphobilinogen Deaminase
  • Porphobilinogen, Δ-ALA, uroporphyrin (urine) buildup
59
Q

Blistering cutaneous photosensitivity. Most common porphyria.

A

Porphyria cutanea tarda

Defect = Uroporphyrinogen Decarboxylase
Uroporphyrin buildup (tea-colored urine)
60
Q

Homovanillic Acid present in urine

A

Neuroblastoma

Homovanillic acid is a breakdown product of Dopamine

61
Q

Child w/ kidney tumor, lack of irises, genitourinary malformation, & mental retardation

A

Wiedemann Syndrome or WAGR complex:

  • Wilms tumor
  • Aniridia
  • Genitourinary malformation
  • Mental retardation
62
Q

Painless hematuria

A

Bladder cancer

Transitional Cell Carcinoma

63
Q

Facies, cold (non-inflamed) staphylococcal abscesses, retained primary teeth, eczema

A

Hyper IgE Syndrome (Job’s Syndrome)

  • Th1 cells fail to produce IFN-γ → inability of neutrophils to respond to chemotactic stimuli
64
Q

Triad: Thrombocytopenic purpura, Infections, Eczema

A

Wiskott-Aldrich Syndrome

  • X-linked, WAS gene → T-cells unable to reorganize actin skeleton
  • Findings: ↑IgE, ↑IgA, ↓IgM, & Thrombocytopenia
65
Q

UTI that shows Clue cells, or vaginal epithelial cells covered w/ bacteria under the microscope

A

Gardnerella vaginalis

  • gray vaginal discharge, fishy smell
  • ass’d w/ sexual activity, but NOT an STD
66
Q

Class Triad: Headache, Fever, & Rash that starts at wrists & ankles, then spreads to trunk, palms, & soles

A

Rocky Mountain Spotted Fever

  • Rickettsia rickettsii
  • Obligate intracellular organisms that need CoA & NAD+
67
Q

Breath sounds: ↓
Percussion: Dull
Fremitus: ↓
Tracheal Deviation: None

A

Pleural Effusion

68
Q

Breath sounds: ↓
Percussion: Dull
Fremitus: ↓
Tracheal Deviation: Toward side of lesion

A

Atelectasis (bronchial obstruction)

69
Q

Breath sounds: ↓
Percussion: Hyperresonant
Fremitus: ↓
Tracheal Deviation: Toward side of lesion

A

Spontaneous Pneumothorax

70
Q

Breath sounds: ↓
Percussion: Hyperresonant
Fremitus: ↓
Tracheal Deviation: Away from side of lesion

A

Tension Pneumothorax

71
Q

Breath sounds: Bronchial breath sounds; late inspiratory crackles
Percussion: Dull
Fremitus: ↑
Tracheal Deviation: None

A

Consolidation

lobar pneumonia, pulmonary edema

72
Q

Pneumoconiosis w/ “ivory white” calcified pleural plaques

A

Asbestosis

affects lower lobes

73
Q

Hilar mass arising from bronchus

  • Cavitation
  • Hypercalcemia
  • Smoker
A

Squamous cell carcinoma

produces PTHrP

74
Q

Retired shipworker w/ hemorrhagic pleural effusions & pleural thickening

A

Mesothelioma (w/ Hx of asbestosis)

75
Q

Lung tumor w/ Psammoma bodies

A

Mesothelioma

AA_Rapid Review (15 decks)

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