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
Recurrent pulmonary infection, reticulonodular pattern on Xray, pancreatic insufficiency, malabsorption, liver disease, nasal polyps, clubbing
Cystic Fibrosis
Most common causes of pulmonary infection in CF patients
infancy - S. Aureus, adolescence - P. Aeruginosa
Hyperammonia, low urea, low citruline, high orotic acid ataxia, lethargy in an infant
Ornithine transcarbamylase deficiency (x linked recessive)
Eczema, thrombocytopenia, immune deficiency, blood diarrhea
Wiscott-Aldrich Syndrome (x linked recessive, WASP gene)
Inheritance pattern and gene mutation for Duchenne Muscular Dystophy
X linked recessive, frameshift or nonsense mutation –> truncated dystrophin protein –> inhibited muscle regeneration
Pelvic girdle weakness, Gower maneuver, waddling gait, dilated cardiomyopathy in a child
Muscular Dystrophy
Intellectual disability, macroorchidism, large jaw, large everted ears, autism, mitral valve prolapse
Fragile X Syndrome
Inheritance pattern and gene mutation for Fragile X
X linked dominant, FMRI trinucleotide repeat –>results in gene methylation and decreased expression.
Intellectual disability, flat facies, prominent epicanthal folds, single palmar crease
Down Syndrome (Trisomy 21)
Diseases people with Down Syndrome are at risk for
Duodenal atresia, ASD, Hirschsprung disease, Alzheimer Disease
Prenatal findings of nuchal translucency and hypoplastic nasal bone, high B HCG, low alpha fetoprotein
Down Syndrome
Severe intellectual disability, rocker bottom feet, micrognathia, low set ears, clenched hands with overlapping fingers, congenital heart disease
Edwards Syndrome (Trisomy 18)
Severe intellectual disability, rocker bottom feet, microopthalmia, microcephaly, cleft lip and palate, holoproencephaly, polydactyly, cutis aplasia, cyclopia
Patau Syndrome (Trisomy 13)
Translocation of two long arms of 2 acrocentric chromosomes fuse at the centromere and the two short arms are lost
Robertsonian Translocation
Microcephaly, severe intellectual disability, high pitched cry, epicanthal folds, cardiac abnormalities (VSD)
Cri-du-Chat Syndrome
Genetic cause of Cri-du-Chat Syndrome
Microdeletion of short arm of Chr 5
elfin facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems
Williams Syndrome (microdeletion of long arm of Chr. 7)
Cleft palate, abnormal facies, thymic aplasia (T cell deficiency), cardiac defects, hypocalcemia, parathryoid aplasia
DiGeorge Syndrome (22q11 deletion)
Etiology of DiGeorge Syndrome
Microdeletion of 22q11 - aberrant development of 3rd and 4th pharyngeal pouch
Fat soluble vitamins
A-D-E-K
Purpose of the carnitine shuttle
Degradation of long chain fatty acids
Purpose of the citrate shuttle
Synthesis of fatty acids. Citrate from mito to cytosol.
Bacteria with a positive silver stain
Legionella, H pylori
Process of bacterial uptake of naked DNA
Bacterial transformation
Bacteria exchanging a plasmid with another bacteria through the use of a sex pillus
Bacterial conjugation
Segment of DNA from one area moves from one location in the genome to another in a bacterial genome
Gene transposition
Lytic phage injects DNA into a bacterium and it is taken up into the genome
Transduction
Elevated during the infectious phase of Hepatitis B infection
HBeAg
Cannot be detected during the window period of a hepatitis B infection
HBsAg, Anti-HbS, HbeAg
Can be detected during the window period of a hepatitis B infection
Anti-Hbe, Anti-HbC IgM
Can be detected in persons who have been immunized against Hepatitis B
Anti-HbS only
Penicillins - mechanism of resistance
Penicillinase cleaves the b-lactam ring (a type of b lactamase)
Cephalosporins - mechanism of resistance
Structural changes in the penicillin binding proteins (PBPs)
Vancomycin - mechanism of resistance
Amino acid modifications - D-ala D-ala to D-ala D-lac
Aminoglycosides - mechanism of resistance
Bacterial transferase enzymes inactive the drug by acetylation, phosphorylation, or adenylation
Tetracyclines - mechanism of resistance
Decreased uptake transporter pumps or increased efflux transporter pumps in bacterial cell. Encoded on plasmids.
Chloramphenicol - mechanism of resistance
plasmid encoded acetyltransferase inactivates the srug
Oxazolidinones (linezolid) - mechanism of resistance
point mutation of ribosomal RNA
Macrolides - mechanism of resistance
methylation of 23s rRNA-binding site preventing the binding of the drug
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy Syndrome (Bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoexmia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells - blue bloater)
Indurated, ulcerated genital lesion
Nonpainful (chancre - Syphilis, Treponema pallidum) Painful, with exudate (chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
Infant with hypoglycemia, hepatomegaly
Cori Disease (debranching enzyme deficiency) or Von Gierke (Glucose 6 phosphotase)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards Syndrome (Trisomy 18)
Jaundice, palpable distended non tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
Large rash with bull eye’s appearance
Erythema chronicum migrans (Lyme Disease)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infection, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck’s Triad - Cardiac Tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth
Gardner Syndrome (FAP)
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4-glucosidace deficiency)
Neonate with arm paralysis following a difficult birth
Erb Duchenne palsy (superior trunk C5-C6 brachial plexus injury - waiter tip)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus, intension tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AIHA caused by mycoplasma pneumoniae, infectious mono, CLL)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon
Painful, raised red lesions on pads or fingers /toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli)
Painless Jaundice
Pancreatic cancer (head obstructing bile duct)
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein purpura (IgA vasculitis)
Pancreatic, pituitary, parathyroid tumors
MEN1
periorbital or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
Emphysema (pink-puffer) Due to smoking (centriacinar) or panacrinar (a1-antrypsin deficiency)
Polyuria, renal tubular acidosis type II (PCT), growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome
Pyruitic, purple, polygonal planar papules and plaques
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain)
Pupil accommodates but doesn’t react
Neurosyphilis (argyll Robertson pupil)
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome
Rash on palms and soles
Coxsackie A, Secondary Syphilis, Rocky Mountain spotted fever
Recurrent cold abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Red currant jelly stools
Acute mesenteric ischemia (adults) and intussusception (children)
red, itchy, swollen rash of nipple/areola
Paget disease of breast
red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson’s disease (loss of dopaminergic neurons in substantia nigra)
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate - fatal
Crigler-Najjar syndrome (UDP deficiency)
Severe RLQ pain with palpation of LLQ
Rovsin sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair, progresses to AML)
Single palmar crease
Down Syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (Addison Disease)
slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin)
Small, irregular red spots on buccal/lingual mucosa with blue white centers
Koplik Spots
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (Syphilis - Secondary)
Splinter hemorrhage in fingernails
Bacterial endocarditis
Strawberry tongue
Kawasaki Disease, Scarlet Fever
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma a birth, short stature, webbed neck, lymphedema
Turner (XO)
Sudden swollen/painful big toe join, tophi
Gout
Swollen, hard, painful, finger joints
Osteoarthritis (osteophytes on PIP - Bouchard nodes, DIP - Heberden nodes)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Systolic ejection murmur (crescendo-decrescendo)
Aortic Stenosis
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
Thyroid, parathyroid tumors, pheochromocytoma
MEN2A (RET)
Thyroid, ganglioneuromatosis, pheochromocytoma
MEN2B (RET)
Toe extension/fanning upon plantar scrape
Babinkski Sign
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis, associated with HLAB27
Unilateral facial drooping involving forehead
LMN facial nerve palsy. UMN lesions spare forehead
Vascular birthmark (port-wine stain on face)
Nevus flammeus (benign, but associated with Sturge-Weber Syndrome)
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome (alcoholics and bulimic)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s Disease
Worst headache of my life
Subarachnoid hemorrhage
Cystathionine Beta Synthase Deficiency
CBS converts homocysteine to cystathionine. Deficiency leads to homocysteine build up resulting in vessel thrombosis, mental retardation, lens discoloration, and long slender fingers.