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High Yield Associations > Diseases > Flashcards

Diseases Flashcards

1
Q

Primary Adrencortico Deficiency

A

Addison’s Disease

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2
Q

Antibodies to Intrinsic Factor or Parietal cells causing low IF and low Vit. B12. Leads to Megaloblastic Anemia.

A

Pernicious Anemia

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3
Q 
Polyostotic Fibrous Dysplasia
Precocious Puberty
Cafe au lait spots
Short Stature
Young girl
A

McCune-Albright’s Syndrome

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4
Q

Hereditary glomerulonephritis with sensorineural hearing loss.

Collagen Type IV defect
Kidney biopsy: Splitting of glomerular basement membrane

A

Alport Syndrome

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5
Q

Progressive Dementia

Senile plaques, neurofibrillary tangles, and reduced cholinergic function.

A

Alzheimer’s

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6
Q

Loss of light reflex constriction
Prostitute’s Eye (accommodates, but does not react)
Tertiary Syphilis
Lesion of pretectal superior colliculus

A

Argyll-Robertson Pupil

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7
Q

Cerebellar Tonsil herniation through the Foramen Magnum

A

Arnold-Chiari Malformation

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8
Q

Columnar metaplasia of the lower esophagus due to GERD. Increases risk of esophageal adenocarcinoma.

A

Barrett’s Esophagus

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9
Q

Hyperreninemia

A

Barter’s Syndrome

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10
Q

Like Duchenne’s but less severe.

Mutation in dystrophin protein.

A

Becker’s Muscular Dystrophy

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11
Q

CN VII Palsy

One side of face involved.

A

Bell’s Palsy

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12
Q

IgA Nephropathy causing hematuria in kids after an infection. IgA antibodies for immune complexes in the kidney.

Electron microscopy: mesangial IC deposits
IF microscopy: mesangial IgA deposits

A

Berger Disease

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13
Q

Defect in Platelet adhesion due to abnormally large platelets and a lack of surface glycoproteins.

Platelet GPIb-IX deficiency (autosomal recessive).
Low platelet count
Abnormal ristocetin cofactor assay
Giant platelets

Normal PT/INR and PTT
Normal D-dimer, FSPs

A

Bernard-Soulier Disease

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14
Q

Circle of Willis - Anterior Communicating Artery aneurysm that can lead to subarachnoid hemorrhage.

Associated with Autosomal Dominant Polycystic Kidney Disease.

A

Berry Aneurysm

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15
Q

Squamous Cell Carcinoma in situ on shaft of penis

HPV Types 16 and 18

A

Bowen’s Disease / Erythroplasia of Queyrat

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16
Q

Recurrence of rickettsia prowazaki ~50 years later from episode of typhus fever

A

Brill Zinsser Disease

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17
Q

Complaints of multiple physical symptoms without physical pathology after extensive testing.

A

Somatic symptom disorder

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18
Q

Motor aphasia- intact language comprehension. Impaired language production.

A

Broca’s Aphasia

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19
Q

Hemisection of the vertebral cord leading to contralateral loss of pain/temp, ipsilateral loss of fine touch, ipsilateral loss of vibration/proprioception

A

Brown Sequard Syndrome

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20
Q

X-linked R disease: deficiency of all mature B-lymphocytes. Lymphoid tissue hypoplasia and recurrent infections.

Low B-cell count
Normal or High T-cell count

A

Bruton agammaglobulinemia

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21
Q

Post hepatic venous thrombosis, presenting with abdominal pain.
May present with hepatomegaly, ascites, portal hypertension, or liver failure.

A

Budd-Chiari Syndrome

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22
Q

Acute inflammation of medium and small arteries of the extremities causing painful ischemia and gangrene of downstream organs.

Prevalent in young/adult men who smoke

A

Buerger’s Disease aka Thromboangiitis obliterans

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23
Q 
Small cell non-Hodgkin lymphoma
Associated with EBV
8:14 translocation: c-myc proto-oncogene
Jaws, abdomen, retroperitoneal soft tissues
Starry sky appearance
A

Burkitt Lymphoma

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24
Q

Nitric Gas Emboli

A

Caisson Disease

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25
Q

Trypanosoma infection leading to myocarditis, cardiomegaly with apical atrophy, toxic megacolon, and achalasia.

A

Chagas disease

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26
Q

Autosomal recessive disease characterized by phagocyte deficiency due to defect in microtubule polymerization.

Neutropenia
Albinism
CNS/PNS deficit
Repeated infections with strep and staph

A

Chediak-Higashi Disease

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27
Q 
Primary Aldosteronism
Hypertension
Hypernatremia
Hypervolemia
Hypokalemia leads to alkalosis
Low renin
A

Conn’s Syndrome

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28
Q

Type 3 Glycogen storage disease characterized by deficient debranching enzyme, leading to accumulation of glycogen.

A

Cori’s Disease

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29
Q

Prion Infection causing cerebellar and cerebral degeneration

A

Creutzfeldt-Jakob Disease

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30
Q 
Congenital Hyperbilirubinemia (unconjugated bilirubin)
Glucuronyl transferase deficiency causing kernicterus and jaundice.
A

Crigler-Najjar Syndrome

31
Q 
Inflammatory Bowel Disease
Ileocecum area
Transmural
Skip lesions
Cobblestoning
Lymphocytic infiltration
Granulomas

Presents with abdominal pain, diarrhea, fever, malabsorption, intestinal fistulae

A

Crohn’s

32
Q

Acute gastric ulcer associated with severe burns.

A

Curling’s Ulcer

33
Q

Hypercortisolism secondary to elevated ACTH from the pituitary gland (basophilic adenoma).

Presents with moon facies, buffalo hump, purple striae, hirsutism, hypertension, hyperglycemia.

A

Cushing’s

34
Q

Acute gastric ulcer associated with CNS trauma

A

Cushing’s Ulcer

35
Q

Self limiting focal destruction of the thyroid - subacute thyroiditis

A

de Quervain’s Thyroiditis

36
Q

Failure of 3rd and 4th pharyngeal pouches formation (thymus, parathyroid). Thymic hypoplasia leading to T-cell deficiency.
Hypoparathyroidism presenting with tetany.

A

DiGeorge’s Syndrome

37
Q

Trisomy 21 or translocation.

Presents with simian crease, epicanthal folds, slanting palpebral fissures, hypertelorism.

A

Down Syndrome

38
Q

Post-MI Fibrinous Pericarditis

A

Dressler’s Syndrome

39
Q

Congenital conjugated hyperbilirubinemia causing bilirubin transport defect.
Striking brown-black discoloration of the liver.

A

Dubin-Johnson Syndrome

40
Q

Deficiency of dystrophin protein d/t X-linked recessive disease.

A

Duchenne Muscular Dystrophy

41
Q 
Trisomy 18
Rocker-bottom feet
Low ears
Clenched fists
Small lower jaw - Micrognathia
Congenital heart defects (VSD, ASD, or ToF)
A

Edwards Syndrome

42
Q

Defective collagen synthesis d/t gene mutations in COL5A1, COL3A1

Aortic dilation/aneurysms/dissection
Berry aneurysms
Joint hypermobility
Bruising
Skin hyperextensibility
Atrophic scars
A

Ehlers-Danlos Syndrome

43
Q

Late cyanotic shunting from right to left

Pulmonary hypertension and right ventricular hypertension secondary to long term effects of VSD, ASD, or PDA.

A

Eisenmenger’s Complex

44
Q

Trauma to the superior trunk of the brachial plexus.

Waiter’s Tip

A

Erb-Duchenne Palsy

45
Q

Malignant undifferentiated round cell tumor of the bone seen in boys < 15 y/o

t11;22

A

Ewing Sarcoma

46
Q 
Impaired proximal tubule reabsorption secondary to lead poisoning or tetracycline use.
Glycosuria
Hyperphosphaturia
Aminoaciduria
Systemic Acidosis
A

Fanconi’s Syndrome

47
Q

Rheumatoid arthritis
Neutropenia
Splenomegaly

A

Felty’s Syndrome

48
Q

Autosomal Dominant Disorder characterized by adenomatous polyps, osteomas and soft tissue tumors.

A

Gardner’s Syndrome

49
Q

Lysosomal storage disease characterized by glucocerebrosidase deficiency, causing an accumulation of glucocerebroside.
Hepatosplenomegaly
Femoral head and long bone erosion
Anemia

A

Gaucher’s Disease

50
Q

Benign congenital unconjugated hyperbilirubinemia from low D-glucuronyl transferase activity

A

Gilbert’s Syndrome

51
Q

Defective glycoproteins on platelets causing low platelet aggregation

A

Glanzmann’s Thrombastenia

52
Q

Autoimmune disease characterized by antibodies targeting glomerular and alveolar basement membranes.
Typically 20-30 y/o men.

A

Goodpasture’s Syndrome

53
Q

Autoimmune hyperthyroidism characterized by IgG antibodies reactive with TSH receptors.
Low TSH
Low TRH
High T3/T4

A

Grave’s Disease

54
Q

Polyneuritis after a viral infection or autoimmune episode.
Ascending muscle weakness
Paralysis
Self-limiting

A

Guillain Barre Syndrome

55
Q

Idiopathic pulmonary fibrosis. Honey comb lung on CT.

A

Hamman-Rich Syndrome

56
Q

Chronic progressive histiocytosis

A

Hand-Schuller-Christian

57
Q

Autoimmune hypothyroidism with potential transient hyperthyroidism.
Low T3/T4
High TSH

A

Hashimoto’s Thyroiditis

58
Q

Initial Hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

A

Thyrotoxicosis

59
Q

Hypersensitivity vasculitis causing allergic purpura.
Lesions all present the same age.
Hemorrhagic urticaria with fever, arthralgias, and GI/renal symptoms.
May be associated with a URI.

A

Henoch-Schonlein purpura

60
Q

Aganglionic megacolon

A

Hirschsprung’s Disease

61
Q

Ptosis
Miosis
Anhidrosis
D/t lesion of cervical sympathetic nerves often due to a pancoast tumor.

A

Horner’s Syndrome

62
Q

Autosomal Dominant disease with progressive degeneration of the caudate nucleus, putamen/striatum, and frontal cortex.
Low GABA
Chromosome 4

A

Huntington’s Disease

63
Q

Epileptic events originating from the primary motor cortex (area 4)

A

Jacksonian seizures

64
Q

Immune deficiency characterized by neutrophil chemotaxis dysfunction, causing repeated infections.
High IgE levels
Common in light skinned, red-haired girls

A

Job’s Syndrome

65
Q

Malignant vascular tumor

HHV8 in homosexual men

A

Kaposi Sarcoma

66
Q

Immotile cilia secondary to defective dynein arms that causes infection, sterility and situs inversus of the heart.

A

Kartagener’s Syndrome

67
Q

Mucocutaneous lymph node syndrome in kids.
Acute necrotizing vasculitis of lips and oral mucosa.

CRASH + BURN

A

Kawasaki Disease

68
Q

47, XXY disease
Long arms
Sterile
Hypogonadism

A

Klinefelter’s Syndrome

69
Q

Bilateral lesions of the amygdala

Hypersexuality and oral behaviors.

A

Kluber-Bucy

70
Q

Adenocarcinoma with signet ring cells originating from the stomach, metastasizing to the ovaries

A

Krukenberg Tumor

71
Q

Alcoholic cirrhosis

A

Laennec’s cirrhosis

72
Q

HGPRT deficiency
Gout
Retardation
Self-mutilation

A

Lesch-Nyhan

73
Q

Acute disseminated Langerhan’s cell histiocytosis

A

Letterer-Siwe

74
Q

Endocarditis with small vegetations on the cardiac valve leaflets.
Associated with SLE

A

Libman-Sacks

High Yield Associations (9 decks)

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