Rapid Facts Flashcards
Abdominal Pain, ascites, hepatomegaly
Budd-Chiari Syndrome
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C.Diff Infection
Achilles tendon xanthoma
Familial hypercholesterolemia (Decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse Friderichsen Syndrome
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan Syndrome
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats
Pott Disease
Bilateral acoustic schwannomas
Neurofibromatosis Type 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Black eschar on face of patient with DKA
Mucor or Rhizopus fungal infection
Blue sclera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (increase osteoblastic and osteoclastic activity)
Bounding pulses, wide pulse pressure, diastolic murmur, head bobbing
Aortic Regurgitation
Butterfly Facial Rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma, cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis Type 1
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (g-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy - Duchenne
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae, tongue, hand foot changes
Kawasaki Disease (Treat with IVIG and ASA)
Cherry-red Spots on Macula
Tay-Sachs, Niemann-Pick, central retinal artery occlusion
Chest POE
Angina
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis - 2wks to several months s/p MI)
Chest pain with ST depression on ECG
Unstable angina (- troponins) or NSTEMI (+ troponins)
Child uses arms to stand up from squat
Duchenne muscular dystrophy - Gowers sign
Child with fever later develops red rash on face that spreads to body
Parvovirus B19 - Fifth’s Disease/Erythema infectiosum
Chorea, dementia, caudate degeneration
Huntington disease (CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital Toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoblobinuria
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia
Damage to MLF - Intranuclear opthalmoplegia
Continuous machine like heart murmur
PDA
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothryoidism, Graves disease)
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
Dark purple skin/mouth nodules in patient with AIDS
Kaposi sarcoma - HHV-8
Deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
Dermatitis, dementia, diarrhea
Pellagra (niacin Vitamin B3 deficiency)
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Berberi (B1 deficiency - Thiamine)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren syndrome
Dysphagia, esophageal webs, glossitis, iron deficiency anemia
Plummer-Vinson syndrome
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danos syndrome (Type V collagen defect, type III collagen defect seen in vascular subtype)
Enlarged, hard left supraclavicular node
Virchow node
Episodic vertigo, tinnitus, hearing loss
Meniere Disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides ((T-Cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis
Fever, chills, headache, myalgia following Ab treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
Fever, night sweats, weight loss
B symptoms of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Golden brown rings around peripheral cornea
Wilson Disease
Gout, intellectual disability, self-mutilating behavior in boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aspetic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
Calcineurin inhibitor binds cyclophilin. Blocks T cell activation by preventing IL 2 transcription
cyclosporine
calcineurin inhibitor, binds FK506 binding protein FKBP. Blocks T cell activation by preventing IL 2 transcription
Tacrolimus
mTOR inhibitor binds FKBP. Blocks T cell activation and B cell differentiation by preventing response to IL2.
Sirolimus
Monoclonal antibodies block IL2R
Daclizumab, basiliximab
Antimetabolite precursor of 6 mercaptopurine. Inhibits lymphocyte proliferation by blocking nucleotide synthesis
Azathioprine
Inheritance pattern and gene mutation for Duchenne Muscular Dystophy
X linked recessive, frameshift or nonsense mutation –> truncated dystrophin protein –> inhibited muscle regeneration (helps anchor muscle fibers)
Inhibit NFKB Suppress both B and T cell function by decreasing transcription of many cytokines. Induces apoptosis of T lymphocytes
Corticosteroids
Name the uses for Aldesleukin (IL2)
Renal cell carinoma, metastatic melanoma
Name the use for epoetin alfa (EPO)
Anemia (especially in renal failure)
Name the use for filgrastim (G-CSF)
Recovery of bone marrow
Name the use for Sargramostim (GM-CSF)
Recovery of bone marrow
Name the use of IFN alpha
chronic hepatitis B and C, kaposi sarcoma, malignant melanoma
Name the use of IFN beta
MS
Name the use of IFN gamma
CGD
Name the use of Romiplostim, eltrombopag (thrombopoietin receptor agonists)
Thrombocytopenia
Name the use of Oprelveskin (IL- 11)
Thrmobocytopenia
Hereditary pattern and gene mutation associated with Cystic Fibrosis
Autosomal recessive, defect of CFTR gene on Chr. 7, most commonly a deletion of F508