Diseases

Question 1

Abs against Citrullinated protein

Answer 1

rheumatoid arthritis

- Abs against Fc portion of human IgG - Rheum factor - not specific enough

Question 2

Antibodies against centromeres

Answer 2

CREST (limited scleroderma)

Question 3

Abs against small nuclear ribonucleotide proteins (aka anti-smith Abs)

Answer 3

SLE
- rash (malar or discoid), non-erosive arthritis, serositis, hematologic disorders (e.g., cytopenia), renal disease, photosensitivity, and cardiovascular disease.

Question 4

Decreased surfactant leads to alveolar collapse from increased surface tension, causing diffuse atelectasis

Answer 4

Neonatal resp distress syndrome

Question 5

congenital birth defects (pigmented spots/café-au-lait, wide thumbs, small eyes) and pancytopenia causing syncope/dizziness, bleeding gums, recurrent infxn

Answer 5

Fanconi anemia (aplastic anemia)

• cause of acute myeloid leukemia in children.
• other sxs: Kidney malformations, hypogonadism, microcephaly, and high fetal hemoglobin concentration

Question 6

AD café-au-lait macules, axillary and/or inguinal freckling, Lisch nodules (iris hamartomas), osseous dysplasias, and neurofibromas

Answer 6

NF1

Question 7

hemolytic anemia due to a red cell membrane defect. Clinical presentation includes anemia, jaundice, and splenomegaly with a positive family history of hemolytic anemia

Answer 7

Hereditary spherocytosis

Question 8

rocker-bottom feet, intellectual disability, clenched hands at birth, and heart defects

Answer 8

Trisomy 18 = Edwards Syn

Question 9

congenital erythroid aplasia that is characterized by progressive normochromic, macrocytic anemia with no other significant cytopenias

Answer 9

Diamond-Blackfan anemia

Question 10

arthralgias, evidence of self-mutilation, orange granules in diaper, intellectual disability, gout, XR, HGRPT enz deficiency, hypersegmented neutrophils due to macrocytic anemia

Answer 10

Lesch-Nyhan syndrome

Question 11

low-grade fever, dry cough, and fatigue after being exposed to a family member who was sick, (+) Coombs test (direct antiglobulin), bilateral lung infiltrates, anemia due to cross-reactive IgM antibodies

Answer 11

Mycoplasma pneumoniae

Question 12

Linear double-stranded DNA, night sweats, fevers, reduced appetite, and decreased urination, submandibular aggressive tumor with sheets of lymphocytes staining positive for CD20, high levels of nuclear c-myc with macrophages

Answer 12

Epstein-Barr virus (EBV) causing Burkitt Lymphoma

- t(8;14) translocation

Question 13

circular partially double-stranded DNA causing Hepititis

Answer 13

HBV

Question 14

linear negative-sense single-stranded DNA, causes aplastic crisis in sickle cell disease, erythema infectiosum (fifth disease) in children, and hydrops fetalis in fetuses

Answer 14

Parvovirus B19

Question 15

linear positive-sense segmented double-stranded RNA, diarrhea in young kids

Answer 15

Rotavirus

Question 16

linear positive-sense single-stranded RNA with recent travel and GI sxs

Answer 16

HAV

Question 17

pallor, fatigue, anemia, thrombocytopenia, and scattered bruising, splenomegaly and increased blasts (Proliferation of circulating lymphoblasts) on the peripheral smear in children

Answer 17

acute lymphoblastic leukemia (ALL)
- tx: (1) a steroid (commonly prednisone or dexamethasone), (2) asparaginase, (3) doxorubicin/daunorubicin, and (4) vincristine

Question 18

mushrooms with vomiting, diarrhea, and nausea, inhibiting RNA polymerase II

Answer 18

Amanita phalloides

- toxin α-amanitin

Question 19

Jugular venous distention (JVD), bilateral upper limb and facial swelling, blanching skin, lung carcinoma

Answer 19

SVC Syndrome compressed by tumor

Question 20

decreased PaO2 inspired (hypoxia), increased ventilation, increased pH resulting in decreased PaCO2

Answer 20

acute altitude sickness due to respiratory alkalosis

Question 21

Increased hemoglobin, increased biphosphoglyerate, and increased renal HCO3- excretion

Answer 21

chronic high altitude exposure compensation

Question 22

ow platelets, high D-dimer, and low fibrinogen, hematuria, diffuse petechiae, chest pain, and shortness of breath

Answer 22

DIC

Question 23

rapid proliferation of myeloblasts and Auer rods, fatigue, shortness of breath, easy bruising and bleeding, petechiae, infections, and bone and joint pain. prior exposure to alkylating chemotherapy agents, radiation, and trisomy 21 increase this risk

Answer 23

AML

Question 24

t(11;18) translocation with chronic inflammation seen in Sjorgrens or chronic gastritis

Answer 24

MALToma

Question 25

sore throat, fatigue, low-grade fever, nonpruritic, red, discrete macules that progress to papular lesions on soles/palms, sexually active, condylomata lata

Answer 25

secondary syphilis

• primary = chancre on genetalia
• tirtiary = gummatous syphilis, cardiovascular syphilis, or neurosyphilis including Ascending aortic aneurysm due to degen of vasa vasorum

Question 26

heart failure, sepsis, and renal artery stenosis are all causes of what and what are its typical lab values?

Answer 26

prerenal azotemia

-BUN/creatinine ratio >20, urine osmolality >500 mOsm/kg, and urine sodium <20 mEq/L and oliguria

Question 27

Diarrhea, Urination, Miosis, Bronchospasm, Bradycardia, Excitation of skeletal muscle and CNS, Lacrimation, Sweating, and Salivation

Answer 27

cholinergic OD/organophosphate poisoning

-tx: atropine or pralidoxime