Usmle Step 1 Diseases Pt 1

Front 1

Addisons Disease

Back 1

primary adrenocortical deficiency

Front 2

Addisonian Anemia

Back 2

pernicious anemia

(antibodies to intrinsic factor or parietal cells. = dec IF = dec VitB12=megaloblastic anemia)

Front 3

Albrights Syndrome

Back 3

Polyostotic Fibrous Dysplasia, precocious puberty, cafe au lait spots, short stature, Young girls.

Front 4

Alports Syndrome

Back 4

hereditary nephritis with nerve deafness

Front 5

Alzheimers

Back 5

progressive dimentia

Front 6

Argyll-Robertson Pupil

Back 6

Neuro Syphilis (tertiary)

"prostitute pupil"- accommodates but does not react.

lesion pretectal region of superior colliculus

Front 7

Arnold - Chiari Malformation

Back 7

cerebellar tonsil herniation through foramen magnum

Front 8

Barrets Esophagus

Back 8

columnar metaplasia of lower esophagys (inc. risk of adenocarcinoma)

constant gastroesophageal reflux

Front 9

Bartters Syndrome

Back 9

Hyperreninemia

Front 10

Beckers Muscular dystrophy

Back 10

X linked missense mutation in dystrophin

most common in young boys w/ progressive muscle weakness

less severe than Duchennes

Front 11

Bells Palsy

Back 11

CN7- Facial nerve

one sided facial drooping including forehead

Front 12

Bergers Disease

Back 12

IgA Nephropathy

Hematuria in Kids (usually after infection)

Front 13

Bernard Soulier Disease

Back 13

Autosomal recessive Bleeding disorder

defect in platelette ADHESION

lack of platelet surface glycoprotein (von Willebrand factor)

epistaxis,easy bruising, bleeding gums.

Front 14

Berry Aneurism

Back 14

Circle of Willis-Anterior communicating artery

Assoc. w/ ADPKD (autosomal dom. polycystic Kidney disease)

Front 15

Bowens Disease

Back 15

carcinoma in situ on shaft of penis

Front 16

Brill Zinsser Disease

Back 16

recurrences of rickettsia prowazaki up to 50 yrs later

Front 17

Briquets Syndrom

Back 17

Somatization disorder

Psychological: multiple physical complaints without physical pathology

Front 18

Brocas Aphasia

Back 18

motor aphasia (area 44 & 45)

intact comprehension

Front 19

Brown-Sequard syndrome

Back 19

hemisection of cord (damage to one half of spinal cord)- Dorsal column medial lemniscus

contralateral loss of pain & temp

ipsilateral loss of fine touch, UMN / ipsi. loss of consc. proprioception

Front 20

Brutons Disease

Back 20

X linked agammaglobinemia (↓ B cells)

Recurrent respiratory infections in child

Immunosuppressant

Front 21

Budd - Chiari

Back 21

Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure.

Front 22

Buergers Disease

Back 22

Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene

Seen almost exclusively in young and middle-aged men who smoke.

Front 23

Burkitts Lymphoma

Back 23

Small non cleaved cell lymphoma EBV

8:14 translocation

Seen commonly in jaws, abdomen, retroperitoneal soft tissues

"Starry sky" appearance

Front 24

Decompression Sickness AKA Caisson Disease

Back 24

Nitric gas emboli

"the bends"

Front 25

Chagas Disease

Back 25

Trypanosoma infection

Cardiomegaly w/ atypical atrophy

achalasia

Front 26

Chediak-Higashi Disease

Back 26

Aut.Rec. Phagocyte def. = defect in microtubule polymerization

Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph

Front 27

Conns Syndrome

Back 27

Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin

Front 28

Cori's Disease

Back 28

Type III - Glycogen storage disease (de-branching enz: amylo 1,6 glucosidase def.= ↑ Glycogen)

Infant w/ hypoglycemia & failure to thrive, Hepatomegaly (Early)

Hypotonia, Cardiomyopathy (later)

Front 29

Creutzfeldt-Jakob disease

Back 29

Prion infection → cerebellar & cerebral degeneration

Fatal- Brain lesions "sponge like"

Front 30

Crigler-Najjar Syndrome

Back 30

Congenital hyperbilirubinemia (unconjugated) Glucuronyl transferase deficiency.

Can progress to Kernicterus

Less severe form will respond to Phenobarbital therapy

Front 31

Crohns Disease

Back 31

IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas Clinically: abd pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures

Front 32

Ulcerative Colitis

Back 32

IBD: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps,

↑ colon cancer risk

Front 33

Curlings Ulcer

Back 33

Acute gastric ulcer assoc. w/ sever burns

reduced plasma volume leads to ischemia and cell necrosis of the gastric mucosa.

Front 34

Cushings Disease/Syndrome

Back 34

Disease: Hypercortisolism 2° to ↑ ACTH from pituitary adenoma (basophilic)

Syndrome: hypercortisolism of all other causes (1° adrenal or ectopic) - moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia

Front 35

Cushings Ulcer

Back 35

acute gastric ulcer assoc. w/ CNS trauma

Front 36

de Quervains THYROIDITIS

Back 36

Giant Cell thyroiditis

self limiting focal destruction (subacute thyroiditis)

caused by upper resp. tract infec. (vrial) Coxsackie, mumps, adenovirus

Front 37

DiGeorge Syndrome

Back 37

22q11.2 deletion

Failure of 3rd & 4th pharyngeal pouches formation T-cell deficiency

Cardiac abnormality (especially tetralogy of Fallot)

Abnormal facies

Thymic aplasia

Cleft palate

Hypocalcemia/Hypoparathyroidism

Front 38

Downs Syndrome

Back 38

Trisomy 21

Single palmar crease (Simian crease)

Front 39

Dresslers Syndrome

Back 39

Post MI inflammatory Pericarditis (autoimmune)

Front 40

Dubin Johnsons Syndrome

Back 40

Aut.Recs.

Congenital hyperbilirubinemia (conjugated) = bilirubin transport is defective

Striking brown-to-black discoloration of the liver caused by polymerized epinephrine metabolites.

Front 41

Duchenne Muscular Dystrophy

Back 41

Deficiency of dystrophin protein → MD

X-linked recessive

Front 42

Edwards Syndrome

Back 42

Trisomy 18

Rocker-bottom feet, low ears, small lower jaw, heart disease (VSD,ASD,PDA), clenched hands

Front 43

Ehlers Danlos Syndrome

Back 43

Elastic skin, hypermobility of joint, incr bleeding tendancy.

Type V collagen defect (type III seen in vascular subtype)

Front 44

Eisenmenger's complex/Syndrome

Back 44

Late cyanotic shunt (R→L)

pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA

Cyanosis, Incr RBC, clubbed fingers

Front 45

Erb–Duchenne palsy

Back 45

Trauma to superior trunk of brachial plexus (C5-C6 nerves) "Waiter's Tip"

abnormal or difficult childbirth or labor

Front 46

Ewing Sarcoma

Back 46

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

t11;22

Front 47

Erythroplasia of Queyrat

Back 47

Squamous cell carcinoma in situ on glans penis

assoc. w/ HPV16

uncircumcised males over 40

Front 48

Fanconi Syndrome

Back 48

Renal tubular Acidosis

Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline

glycosuria,hypophosphatemia/phosphaturia, aminoaciduria, systemic acidosis)

Front 49

Feltys Syndrome

Back 49

Rheumatoid arthritis, neutropenia, splenomegaly

50-70 y/o white females

Front 50

Gardeners Syndrome

Back 50

Auto.Dom

Adenomatous polyps of colon, osteomas & soft tissue tumors

supernumerary teeth

Front 51

Gauchers disease

Back 51

MOST COMMON Lysosomal Storage Disease; glucocerebrosidase deficiency = glucocerebroside accumulation

Painless hepatosplenomegaly, Osterporosis Aseptic necrosis of femoral head & long bone(erlenmyer flask), anemia

Front 52

Gilberts syndrome

Back 52

Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity

mild jaundice under exertion

Front 53

Glanzmanns Thrombasthenia

Back 53

Rare bleeding disorder (coagulopathy)

Defective glycoproteins (GpIIb/IIIa) on platelets = deficient platelet aggregation

Front 54

Goodpastures Syndrome

Back 54

Autoimmune: antibody to glomerular & alveolar basement membranes. Seen in men ~20 y/o

coughing up blood, malaise, weight loss, fatigue, fever, hematuria

Front 55

Graves Disease

Back 55

Exophthalmos, enlarged thyroid (Goiter)

Autoimmune hyperthyroidism (TSI): IgG Antibody reactive w/ TSH receptors. Low TSH & TRH

High T3 / T4

poor tolerance of heat, pretibial myexdema(shin skin thickening)

Front 56

Guillain-Barre Syndrome

Back 56

Polyneuritis following viral infection/ autoimmune destruction of myelin sheath (ascending muscle weakness & paralysis; usually self-limiting)

Front 57

Hamman-Rich Syndrome

Back 57

Acute interstitial pneumonitis.

"honey comb" lung x-ray(diffuse alveolar damage)

highly productive cough with thick mucus

Front 58

Hand-Schuller-Christian disease

Back 58

Multifocal Langerhans cell histiocytosis

Exophthalmous, lytic bone lesions(skull), Diabetes Insipidus, enlarged lymph nodes

Front 59

Hashimoto Thyroiditis

Back 59

(Autoimmune) Primary hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH

Lymphocytic infiltration

common hypothyroid symptoms

TPO blood test

Front 60

Henoch-Schonlein purpura

Back 60

Systemic vasculitis (diffuse rash on most of the body)

"classic triad" Palpable purpura most common in children, Arthritis and abdominal pain.

Front 61

Hirschprungs Disease

Back 61

congenital aganglionic megacolon

Incomplete neural crest cell migration

Seen shortly after birth; baby fails to pass the first stool (meconium) within 48 hours of delivery.

Front 62

Horners Syndrome

Back 62

Sympathetic ganglion chain lesion

Ptosis, miosis, anhidrosis

often 2° to a Pancoast tumor

Front 63

Huntingtons Disease

Back 63

Aut.Dom

caudate nucleus atrophy, ↑Dopamine ↓ GABA ↓ACh

Chorea, dementia

chromosome 4

Front 64

Hyper IgE/Jobs Syndrome

Back 64

Immune deficiency

Defective neutrophilic chemotactic response = repeated infections Commonly seen in light-skinned, red-haired girls.

↑ IgE levels

Front 65

Kaposi Sarcoma

Back 65

Red, purple blotches usually palpable

Usually found on ski, mouth, gastrointestinal tract and respiratory tract

Malignant tumor (HHV8 in homosexual men) most common in AIDS

Front 66

Kartageners Syndrome

Back 66

Immotile cilia (dyenin arm defect)

Recurrent infections,Situs inversus, sterility

Front 67

Kawasaki Disease

Back 67

"Strawberry tongue"

mucocutaneous lymph node syndrome in kids under 5y/o ,AutoImm. medium size blood vessel inflammation.

High persistent fever unresponsive to medicine

Bilateral conjunctival inflammation

Front 68

Klinefelters Syndrome

Back 68

47, XXY: Long arms, Sterile, Hypogonadism

Front 69

Kluver-Bucy Syndrom

Back 69

Bilateral amygdaloid lesion

Hypersexuality, Hyperorality, docility

Front 70

Krukenberg Syndrome

Back 70

Metastasized malignancy of the ovaries

from: Adenocarcinoma with signet-ring cells (typically originating from the stomach)

Front 71

Lesch-Nyhan Syndrome

Back 71

HGPRT deficiency Gout, retardation, self-mutilation (mainly young boys)

X linked recs.

Front 72

Libman-Sacks Endocarditis

Back 72

NonBacterial Endocarditis with small vegetations on valve leaflets

Associated with SLE