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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
Brain tumor w/ Homer-Wright Rosettes
Medulloblastoma (also has small blue cells) - highly malignant, cerebellar, compresses 4th ventricle -- hydrocephalus - primitive neuroectoderm - can cause "dropped metastasis" to SC
26
Brain tumor w/ perivascular pseudorosettes & basal ciliary bodies
Ependymoma
27
Brian tumor w/ foamy cells & high vascularity
Hemangioblastoma - ass'd w/ von Hippel Lindau when found w/ retinal angioma - can produce EPO -- polycythemia
28
Brain tumor w/ bitemporal hemianopia that is NOT a pituitary adenoma
Craniopharyngioma - from remnants of Rathke's pouch - calcification common
29
Bone is replaced by fibroblasts, collagen, & irregular bony trabeculae
Polyostotic Fibrous Dysplasia
30
Female child w/ precocious puberty, multiple unilateral bone lesions, & cafe-au-lait spots
McCune-Albright Syndrome | a form of polyostotic fibrous dysplasia
31
Dry eyes, dry mouth, & parotid enlargement in a 40-60 yr-old female
Sjogren's Syndrome - autoantibodies to ribonucleoprotein antigens: SS-A (Ro), SS-B (La) - Lymphocytic infiltration of exocrine glands - ass'd w/ Rheumatoid Arthritis
32
Conjuctivitis, Urethritis, & Arthritis
Reactive Arthritis (Reiter's Syndrome)
33
anti-Smith antibodies
Systemic Lupus Erythematosus | very specific, but not prognostic Others: ANA, anti-dsDNA, & anti-histone (drug-induced)
34
Pain & stiffness in shoulders & hips w/ NO ass'd muscle weakness in woman >50 yrs.
Polymyalgia Rheumatica - ass'd w/ Temporal Giant Cell Arteritis - inc'd ESR, normal CK
35
Metaplasia "mass" of skeletal muscle to bone @ site of previous trauma (Jake's shoulder)
Myositis ossificans
36
Young child with fatty diarrhea, failure to thrive (malabsorption), & neurologic manifestations. Labs show decreased cholesterol in blood.
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
Gastric hypertrophy w/ protein loss, parietal cell atrophy, & inc'd mucous cells. Rugae of stomach look like brain gyri.
Menetrier's Disease (precancerous) | rugae of stomach are so hypertrophied they look like brain gyri
38
Stomach cancer often presents w/ what skin condition?
Acanthosis nigricans
39
Stomach wall grossly looks thickened & leathery. Histology shows signet ring cells.
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
Recurrent abdominal pain that improves w/ defecation and frequent diarrhea
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
Bilious vomiting in newborn w/ proximal stomach distention & "double bubble" appearance on X-ray
Duodenal atresia | failure of recanalization of small bowel. Ass'd w/ Down Syndrome
42
Multiple hamartomas throughout GI tract along w/ hyperpigmented mouth, lips, hands, & genitalia
Peutz-Jeghers Syndrome - AD - single polyps are not malignant - ass'd w/ inc'd risk of CRC & other visceral malignancies
43
Multiple polyps in GI tract of child <5 yrs. w/ 80% of polyps located in rectum.
Juvenil Polyposis Syndrome - inc'd risk of adenocarcinoma (CRC)
44
Pancolonic involvement of multiple (thousands) colonic polyps, osseous & soft tissue tumors, & congenital hypertrophy of retinal pigment epithelium
Gardner's Syndrome FAP (AD mutation of APC gene on chromosome 5q) + Osseous & soft tissue tumors, congenital hypertrophy of retinal pigment epithelium
45
FAP + Malignant CNS tumor
Turcot's Syndrome
46
a) Inherited CRC; rectum always involved | b) Inherited CRC; proximal colon always involved
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
Wheezing, right-sided heart murmur, diarrhea, flushing. "Dense core bodies" seen on EM.
Carcinoid tumor that has metastasized outside of GI system | liver metabolizes 5HT, so if confined to GI then no carcinoid symptoms
48
Newborn with absent UDP-glucuronyl transferase
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
Mildly decreased UDP-glucuronyl transferase
Gilbert's Syndrome (also caused by dec'd bilirubin uptake by liver cells) - bilirubin inc's w/ fasting & stress
50
Normocytic, Normochromic anemia -- Intravascular or Extravascular? ↓ Haptoglobin ↑ LDH Hemoglobin in urine
Intravascular hemolysis | PNH, mechanical destruction
51
Normocytic, Normochromic anemia -- Intravascular or Extravascular Hemolysis? ↑ LDH ↑ UCB (jaundice)
Extravascular Hemolysis
52
``` Normocytic Anemia ↓ Iron ↓ TIBC ↑ Ferritin ↑ FEP ```
Anemia of chronic disease | can become microcytic, hypochromic
53
Hemolytic anemia in a newborn
Pyruvate Kinase deficiency - AR - ↓ ATP → rigid RBCs
54
Hemolytic anemia, pancytopenia, & venous thrombosis
Paroxysmal Nocturnal Hemoglobinuria (classic triad) Labs: CD55/59-negative RBCs Tx = Eculizumab
55
↓ Iron ↑ Transferrin (or TIBC, same thing) ↓ Ferritin ↓↓ Transferrin saturation (serum iron/TIBC)
Primary iron deficiency | look at Ferritin to diff. from anemia of chronic disease
56
↑ Iron ↓ TIBC ↑ Ferritin ↑↑ Transferrin saturation
Hemochromatosis
57
↑ Transferrin | ↓ Transferrin saturation
Pregnancy or OCP use | primary = ↑ Transferrin
58
Painful abdomen, port-wine colored urine, polyneuropathy, psychological disturbances, precipitated by drugs
Acute Intermittent Porphyria (5 Ps) - Defect = Porphobilinogen Deaminase - Porphobilinogen, Δ-ALA, uroporphyrin (urine) buildup
59
Blistering cutaneous photosensitivity. Most common porphyria.
Porphyria cutanea tarda ``` Defect = Uroporphyrinogen Decarboxylase Uroporphyrin buildup (tea-colored urine) ```
60
Homovanillic Acid present in urine
Neuroblastoma | Homovanillic acid is a breakdown product of Dopamine
61
Child w/ kidney tumor, lack of irises, genitourinary malformation, & mental retardation
Wiedemann Syndrome or WAGR complex: - Wilms tumor - Aniridia - Genitourinary malformation - Mental retardation
62
Painless hematuria
Bladder cancer | Transitional Cell Carcinoma
63
Facies, cold (non-inflamed) staphylococcal abscesses, retained primary teeth, eczema
Hyper IgE Syndrome (Job's Syndrome) - Th1 cells fail to produce IFN-γ → inability of neutrophils to respond to chemotactic stimuli
64
Triad: Thrombocytopenic purpura, Infections, Eczema
Wiskott-Aldrich Syndrome - X-linked, WAS gene → T-cells unable to reorganize actin skeleton - Findings: ↑IgE, ↑IgA, ↓IgM, & Thrombocytopenia
65
UTI that shows Clue cells, or vaginal epithelial cells covered w/ bacteria under the microscope
Gardnerella vaginalis - gray vaginal discharge, fishy smell - ass'd w/ sexual activity, but NOT an STD
66
Class Triad: Headache, Fever, & Rash that starts at wrists & ankles, then spreads to trunk, palms, & soles
Rocky Mountain Spotted Fever - Rickettsia rickettsii - Obligate intracellular organisms that need CoA & NAD+
67
Breath sounds: ↓ Percussion: Dull Fremitus: ↓ Tracheal Deviation: None
Pleural Effusion
68
Breath sounds: ↓ Percussion: Dull Fremitus: ↓ Tracheal Deviation: Toward side of lesion
Atelectasis (bronchial obstruction)
69
Breath sounds: ↓ Percussion: Hyperresonant Fremitus: ↓ Tracheal Deviation: Toward side of lesion
Spontaneous Pneumothorax
70
Breath sounds: ↓ Percussion: Hyperresonant Fremitus: ↓ Tracheal Deviation: Away from side of lesion
Tension Pneumothorax
71
Breath sounds: Bronchial breath sounds; late inspiratory crackles Percussion: Dull Fremitus: ↑ Tracheal Deviation: None
Consolidation | lobar pneumonia, pulmonary edema
72
Pneumoconiosis w/ "ivory white" calcified pleural plaques
Asbestosis | affects lower lobes
73
Hilar mass arising from bronchus - Cavitation - Hypercalcemia - Smoker
Squamous cell carcinoma | produces PTHrP
74
Retired shipworker w/ hemorrhagic pleural effusions & pleural thickening
Mesothelioma (w/ Hx of asbestosis)
75
Lung tumor w/ Psammoma bodies
Mesothelioma

AA_Rapid Review (15 decks)

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