Named crap & other things I keep forgetting Flashcards
Osler-Weber-Rendu syndrome
AKA hereditary hemorrhagic telangiectasia
AD inheritance
Recurrent epistaxis, Telangiectasias, AVMs, GI bleeding, hematuria
Sturge-Weber syndrome
Non-inherited developmental abnormality of neural crest derivatives
Activating mutation of GNAQ
Affects capillaries in unilateral V1/V2 -> Port-wine stain
Episcleral hemangioma -> increase ocular pressure -> glaucoma
Ipsilateral leptomeningeal angioma -> Seizures
Mental retardation
Tram-track calcifications of opposing gyri
Leukocyte adhesion deficiency
AR loss of CD18 integrins on leukocytes prevents adhesion/margination in acute inflammation
Delayed separation of umbilical cord
Increased circulating PMNs (can’t stay in reserve in lung circ)
Recurrent bacterial infxns lacking pus
Chediak-Higashi syndrome
Microtubule (‘railroad’) defect -> Phagosomes and lysozomes can’t fuse in leukocytes
Increased risk of pyogenic infxns
Neutropenia
Giant granules in leukocytes
Defective primary hemostasis
Albinism from melanocyte dysfxn
Peripheral neuropathy due to axonal trafficking dysfxn
Chronic granulomatous disease
X-linked or AR NADPH oxidase defect -> Poor O2-dependent killing
Catalase-positive organism infxns (Those that destroy H2O2 that they create to block HOCl formation by MPO = Staph aureus, Pseudomonas cepacia, S marcescens, Nocardia, Aspergillus)
NBT stays colorless on testing (Turns blue if body can produce superoxide. Will turn blue in MPO deficiency)
MPO deficiency
Decreased O2-dependent killing
Increased risk of Candida infxns
NBT turns blue on testing (Superoxide production by NADPH oxidase intact)
SCID causes and signs
Cytokine receptor defects
Adenosine deaminase deficiency -> Buildup of toxic metabolites in lymphocytes
MHC II deficiency -> Defective fxn of B and CD4+ T cells
Susceptible to all infxns. Need sterile isolation. No live vaccines.
Bone marrow transplant (No rejection possible)
X-linked agammaglobulinemia
X-linked BTK (Bruton Tyrosine Kinase) deficiency
Agammaglobulinemia (No Ig)
Dysfxn B maturation
Bacterial, enterovirus, and Giardia infxns after 6m of life
No live vaccines
DiGeorge syndrome
Aplasia of pharyngeal arches 3, 4 due to 22q11 microdeletion
Hypocalcemia from lack of parathyroids
T deficiency from thymic aplasia
Embryonic cardiac defects
IgA deficiency
Mucosal infxns
Assoc w/ Celiac disease, but otherwise fairly benign
Hyper-IgM syndrome
Mutated CD40L on T or CD40 on B Can't class switch -> High IgM; Low IgG, A, E
Wiskott-Aldrich syndrome
X-linked bleeding, rash, recurrent infxns
Mutation in WAS -> Immune cells can’t reorganize actin cytoskeleton (esp. T cells, platelets)
WATER = Wiskott-Aldrich: TTP, Eczema, Recurrent infections
Complement deficiency
Recurrent Neisseria infxns from C5-9 deficiency
C1 inhibitor deficiency
Hereditary angioedema, esp periorbital and mucosal
Autoimmune polyendocrine syndrome
AIRE mutation leads to decreased expression on medullary epithelial cells in thymus of self-Ags -> Increased autoimmune response targeting endocrine glands
Hypoparathyroidism
Adrenal failure
Skin infxns
Autoimmune lymphocytic proliferation syndrome
Mutation causes loss of FAS or FASL -> Self-reactive T cells that should undergo apoptosis cannot
IgG against blood -> Cytopenias
Lymphocytic proliferation -> Generalized LAD
HSM
Lymphoma
Relationship of half-life, volume of distribution, and clearance
t(1/2) = (0.7 * Vd) / Cl
Li-Fraumeni syndrome
Germline p53 mutation -> Various cancer types at a young age
Tuberous sclerosis
AD neurocutaneous disorder w/ incomplete penetrance and variable expression
Numerous benign hamartomas = CNS (mental retardation, seizures), skin (angiofibromas; Shagreen patches = thick, leathery, dimpled skin; Ash-leaf spots lacking melanin), cardiac rhabdomyomas, mitral regurgitation, renal angiomyolipomas
von Hippel-Lindau disease
Hemangioblastomas in CNS (retina, brain stem, cerebellum, spine)
Angiomatosis of skin, mucosa, organs
Bilateral RCC, Pheochromocytomas
Cluster headaches
‘Cluster of recurring attacks’
Unilateral periorbital pain, lacrimation, rhinorrhea w/ 15m-3h repetitive attacks
More common in MALES
Treat w/ sumatriptan
Tension headaches
‘Tension around whole head’
BILATERAL steady pain lasting 4-6h
Treat w/ analgesics, NSAIDs, APAP; Amitriptyline for chronic pain
Migraine headaches
Unilateral pulsating pain with nausea, photophobia, phonophobia, potentially preceding AURA, w/ 4-72h duration
Due to irritation of CN V, meninges, blood vessels -> Release of substance P and CGRP
Abortive therapy = triptans, NSAIDs
Prophylaxis = Propranolol, topiramate, Ca-channel blockers, amitriptyline
Charcot-Marie-Tooth disease
AKA Hereditary motor and sensory neuropathy
AD defective production of myelin sheath proteins in periphery
Associated w/ scoliosis and high/flat foot arches
No hypertrophic cardiomyopathy (vs. Friedrich ataxia)
Metachromatic leukodystrophy
AR lysosomal storage disease due to arylsulfatase A deficiency -> Sulfatide buildup -> Impaired production and destruction of myelin sheath in periphery and CNS -> Ataxia, Dementia
Progressive multifocal leukoencephalopathy
CNS demyelination from ODC destruction due to JC virus reactivation in AIDS patients
Adrenoleukodystrophy
XR impaired metabolism of very-long-chain fatty acids -> Excessive buildup in CNS, adrenals, testes -> Adrenal gland crisis, Coma, Death
Cancers in which Psammoma bodies are seen
PSaMMoma Papillary thyroid cancer Serous papillary cystadenocarcinoma of ovary Meningioma Mesothelioma
Fanconi syndrome
Generalized reabsorptive defect in PCT = increased excretion of most amino acids, glucose, ((HCO3-)), PO43- = Metabolic acidosis
Causes include Hereditary defects (Wilson disease, tyrosinemia, glycogen storage disease), Ischemia, Multiple myeloma, Nephrotoxins/drugs (Expired tetracycline, Tenofovir), Pb poisoning
GPCR-linked second messengers
Remember intracellular receptor signaling:
Gq = PLC -> IP3/DAG(PKC) -> Up Ca -> SM contraction
Gs = Up AC -> Up cAMP -> Up PKA -> Up Ca in heart, block MLCK in SM -> Inotropy, SM relaxation
Gi opposite Gs
QISS and QIQ til you're SIQ of SQS (super qinky sex): (SNS) a1 = q, a2 = i, b1 = s, b2 = s (PSNS) M1 = q, M2 = i, M3 = q (DA) D1 = s, D2 = i (Histamine) H1 = q, H2 = s (ADH) V1 = q, V2 = s
Bernard-Soulier syndrome
Primary hemostasis defect
Gp1b deficiency prevents platelets binding vWF = Agglutination failure with ristocetin (activates vWF)
Glanzmann thrombasthenia
Primary hemostasis defect
GpIIb/IIIa deficiency prevents platelet aggregation via fibrinogen (Similar to blocking GpIIb/IIIa with Abciximab, Eptifibatide, or Tirofiban)
Agglutination occurs with ristocetin (activates vWF)
Renal tubular defect syndromes
FABulous Glittering LiquidS FAnconi syndrome Bartter syndrome Gitelman syndrome Liddle syndrome Syndrome of apparent mineralocorticoid excess
Bartter syndrome
AR reabsorptive defect in thick ascending loop affecting Na+/K+/2Cl- cotransporter -> Hypokalemia, metabolic alkalosis, hypercalciuria (Ca, Mg would follow other ions out of ascending loop)
Gitelman syndrome
AR reabsorptive defect of NaCl in DCT -> Hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia
Less severe than Bartter syndrome
Liddle syndrome
AD gain of function mutation causes increased Na+ reabsorption in collecting tubules -> HTN, hypokalemia, metabolic alkalosis, low aldosterone
Treat w/ Amiloride
Syndrome of apparent mineralocorticoid excess
Deficiency of 11b-hydroxysteroid DH that normally converts cortisol to cortisone to limit effects
High cortisol -> Up mineralocorticoid receptor activity -> HTN, hypokalemia, metabolic alkalosis, low aldosterone
Can be hereditary or acquired from glycyrrhetic acid in licorice that naturally blocks 11b-HSDH
Lead poisoning treatments
Dimercaprol, EDTA
Succimer for chelation in kids
Orotic aciduria
AR defect in UMP synthase = Inability to convert orotic acid -> UMP in de novo pyrimidine synthesis
Presents in children = Failure to thrive; dev delay; Megaloblastic anemia refractory to B9, B12; No hyperammonemia (vs. ornithine transcarbamylase deficiency in urea cycle)
Treat w/ UMP to bypass mutated enzyme
Nonmegaloblastic macrocytic anemias
DNA synthesis is unimpaired = No hypersegmented PMNs, but RBC macrocytosis
Alcoholism, liver disease, hypothyroidism, reticulocytosis
Fabry disease
Lysosomal storage disease
XR a-galactosidase A deficiency causes Gb3 buildup
Adult pres: Peripheral neuropathy, Angiokeratomas (butt, groin, umbilicus), CV and Renal disease; NO HSM
Gaucher’s disease
Most common lysosomal storage disease
AR glucocerebrosidase deficiency causes glucocerebroside buildup
HSM, pancytopenia, bone symptoms (osteoporosis, aseptic necrosis of femur, pain crises), Gaucher cells (lipid-laden M0s resembling crumpled tissue paper)
Treatment is recombinant deficient protein
Niemann-Pick disease
Lysosomal storage disease
AR sphingomyelinase deficiency causes sphingomyelin buildup
HSM, progressive neurodegeneration, lipid-laden foamy M0s, HSM, “Cherry-red” spot on macula
Tay-Sachs disease
Lysosomal storage disease
AR hexosaminidase A deficiency causes buildup of GM2 ganglioside
Progressive neurodegeneration, dev delay, “Cherry-red” spot on macula, onion skin lysosomes, but no HSM (vs. Niemann-Pick)
Krabbe disease
Lysosomal storage disease
AR deficiency of galactocerebrosidase causes buildup of galactocerebroside
Peripheral neuropathy, dev delay, OPTIC ATROPHY, globoid cells
Hurler syndrome
Lysosomal storage disorder of mucopolysaccharides
AR deficiency of a-L-iduronidase causes buildup of HEPARAN sulfate, dermatan sulfate
Dev delay, gargoylism, airway obstruction, corneal clouding, HSM
Hunter syndrome
Lysosomal storage disorder of mucopolysaccharides
XR deficiency of iduronate sulfatase causes buildup of HEPARAN sulfate, dermatan sulfate
Mild form of Hurler w/ Aggressive behavior, but no corneal clouding
Pseudo-Pelger-Huet anomaly
PMNs w/ bilobed nuclei indicative of myelodysplastic syndromes
Typically seen after CTX
Wolff-Chaikoff effect
Excess iodine temporarily inhibits thyroid peroxidase leading to decreased T3/T4 for ~days
Used to treat hyperthyroidism
May be a side effect of amiodarone
Jod-Basedow effect
Temporary hyperthyroidism in previously iodine deficient individuals when a large amount of iodine is administered
(Gland catches up on lost production)
Warthin tumor
Papillary cystadenoma lymphomatosum of the salivary glands
Benign cystic tumor with germinal centers
Mallory-Weiss syndrome
Mucosal lacerations at the GEJ due to severe vomiting in alcoholics and bulimics
Can lead to hematemesis, Boerhaave syndrome
Plummer-Vinson syndrome
Triad: Dysphagia, Iron deficiency anemia, Esophageal webs; May have associated glossitis (beefy red tongue due to mucosal atrophy exposing blood vessels)
Increased risk of esophageal squamous cell carcinoma
More common in older women
Menetrier disease
Precancerous hyperplasia of gastric mucosa -> Hypertrophied rugae (appearing like brain gyri), Excess mucus -> Protein loss, parietal cell atrophy, achlorhydria
Virchow node
Left supraclavicular LAD due to gastric cancer metastasis
Krukenberg tumor
Gastric cancer hematogenous metastases to BL ovaries
Signet ring cells
Sister Mary Joseph nodule
Subcutaneous periumbilical metastasis of gastric cancer
Whipple disease
Tropheryma whipplei infection -> Foamy macrophages in intestinal lamina propria
Cardiac sx, Arthralgias, Neuro sx
Older men
Gardner syndrome
Familial adenomatous polyposis + benign osseous and soft tissue tumours (retinal pigmented epithelium hypertrophy, supernumerary teeth)
Turcot syndrome
Familial adenomatous polyposis + malignant CNS tumor
Peutz-Jeghers syndrome
AD syndrome of multiple GI hamartomas, hyperpigmented skin and mucosa
Associated with increased GI, pancreatic, and breast cancer risk
Lynch syndrome
AKA hereditary nonpolyposis colorectal cancer (HNPCC)
AD DNA mismatch repair gene mutation -> Microsatellite instability -> 80% become colorectal carcinoma (always involves proximal colon)
Associated with endometrial, ovarian, and skin cancers
Gilbert syndrome
Mildly decreased UDP-glucuronosyltransferase conjugation and impaired bilirubin uptake = increased UCJ bilirubin w/o hemolysis
Asymptomatic or mild jaundice only appearing with fasting/stress (Benign)
Crigler-Najjar syndrome (T1, T2)
Type I: Absent UDP-glucuronosyltransferase -> High UCJ bilirubin -> jaundice -> Kernicterus -> Death in a few years
Treat w/ plasmapheresis, phototherapy for greater bilirubin excretion
Type II: Less severe, responds to phenobarbital (Liver enzyme synthesis inducer)
Dubin-Johnson syndrome
CJ hyperbilirubinemia due to defective liver excretion
Grossly black liver, but benign
Rotor syndrome
Mild CJ hyperbilirubinemia due to defective liver excretion, but not as severe as D-J syndrome
Benign, no black liver
Trousseau syndrome
Paraneoplastic migratory thrombophlebitis (e.g. DVTs) associated with pancreatic adenocarcinoma
Due to excess thromboplastin activating Factor VII
Courvoisier sign
Obstructive jaundice with a palpable nontender gallbladder seen in pancreatic adenocarcinoma
Hawthorne effect
AKA Observer effect
Tendency of study subjects to change their behavior when they know they are being studied
Berkson’s bias
Selection bias due to choosing hospitalized (sick) patients as the control group
Pygmalion effect
How a researcher’s belief in the efficacy of a treatment can potentially affect results
Romano-Ward syndrome
AD pure cardiac congenital long-QT syndrome
Jervell and Lange-Nielsen syndrome
AR congenital long-QT syndrome with sensorineural deafness
Job syndrome
AD hyper-IgE syndrome
Deficiency in Th17 cells from STAT3 mutation -> Impaired PMN recruitment -> Impaired inflammation
Coarse facies, cold abscesses, retained primary teeth, high IgE, eczema, low IFN-g
Alport syndrome
X-linked deficiency of type IV collagen -> Thinning, splitting of glomerular BM
Isolated hematuria, sensory hearing loss, visual disturbances
WAGR syndrome
Syndrome of: Wilms tumor Aniridia Genital abnormalities mental and motor Retardation
Beckwith-Wiedemann syndrome
Wilms tumor
Neonatal hypoglycemia
Muscular hemihypertrophy (one body side has muscles bigger than the other)
Organomegaly, esp. tongue
Takayasu arteritis
Granulomatous thickening, narrowing of aortic arch and proximal great vessels (large vessels)
Treat w/ corticosteroids
Weak upper extremity pulses, fever, night sweats, arthritis, myalgias, skin nodules, ocular disturbances
Kawasaki disease
(CRASH and burn)
Mucocutaneous LN syndrome of Conjunctival injection, Rash, cervical Adenopathy, Strawberry tongue, Hand-foot edema and erythema, FEVER
May cause coronary artery aneurysms (medium vessels)
Treat w/ IVIG and aspirin
Buerger disease
AKA Thromboangiitis obliterans
Segmental thrombosing vasculitis (medium vessels)
Claudication, autoamputation of digits, Raynaud’s, and superficial nodular phlebitis in heavy smokers
Treat w/ smoking cessation
Wegener’s granulomatosis
AKA Granulomatosis w/ polyangiitis
Triad of focal necrotizing vasculitis (small vessels), necrotizing granulomas of lung and upper airway, and necrotizing glomerulonephritis
+ c-ANCA
Hemoptysis, dyspnea; hematuria, RBC casts; Nasal septum perforation, chronic URT infection (upper airway involvement distinguishes from micro-PAN and Goodpasture’s)
Treat w/ cyclophosphamide, corticosteroids
Churg-Strauss disease
AKA Eosinophilic granulomatosis w/ polyangiitis
Necrotizing granulomatous vasculitis w/ eosinophilia (small vessels)
+ p-ANCA, high IgE
Asthma, sinusitis, skin nodules, purpura, peripheral neuropathy, pauci-immune glomerulonephritis
(Asthma, eosinophilia, and granulomas differentiate from micro-PAN)
Henoch-Schonlein purpura
AKA IgA vasculitis
(Small vessel) vasculitis secondary to IgA nephropathy (Berger disease) in children
Triad following URI: Palpable purpura on buttocks/legs, Arthralgias, Abdominal pain
Berger disease
IgA nephropathy after mucosal infections
Episodic hematuria w/ RBC casts
Mesangial proliferation w/ immune complex deposits
Renal pathology of Henoch-Schonlein purpura
Wilms tumor
Nephroblastoma - embryonic glomerular structures
Most common renal malignancy of early childhood
Large palpable unilateral flank mass and/or hematuria
Loss of function to tumor suppressors WT1/WT2 on chromosome 11
May be part of larger syndromes (Beckwith-Wiedemann, WAGR)
Hartnup disease
AR deficiency of neutral amino acid transporters in PCT and on GI enterocytes -> Low tryptophan for conversion to niacin -> Pellagra
Treat w/ high protein diet, niacin (B3)
Caplan syndrome
Coal workers’ pneumoconiosis together with rheumatoid arthritis
Paget disease
Localized bone remodeling disorder:
Increased osteoblast and osteoclast activity
Normal labs except for high ALP
Mosaic pattern of woven and lamellar bone, chalk-stick fractures of long bones
Increased hat size, hearing loss from narrowed foramina, increased risk of osteogenic sarcoma
Legg-Calve-Perthes disease
Idiopathic osteonecrosis
Ewing sarcoma
Anaplastic small blue cell (neuroectoderm-derived) malignant tumor of diaphysis in boys - Extremely aggressive, treat w/ CTX
Onion skin periosteal reaction in bone
t(11;22) causes fusion protein EWS-FLI 1
(11 + 22 = 33 for Patrick Ewing)
Lesch-Nyhan syndrome
XR defective purine salvage from absent HGPRT
Blocks conversion of hypoxanthine -> IMP and guanine -> GMP
Excess uric acid production and de novo purine synthesis
Intellectual disability, self-mutilation, aggression, hyperuricemia, gout, dystonia
Orange sand in diaper
Treat w/ allopurinol or febuxostat
Reiter syndrome
Triad of conjunctivitis and anterior uveitis, urethritis, and arthritis after dysentery or Chlamydia infections
Libman-Sacks endocarditis
Nonbacterial vegetations on both sides of heart valves seen with SLE
Menkes disease
XR CT disease from impaired Cu absorption and transport due to defective ATP7A protein
Decreased lysyl oxidase activity (needs Cu cofactor) -> Brittle kinky hair, growth retardation, hypotonia
Duchenne muscular dystrophy
X-linked FRAMESHIFT mutations to dystrophin protein -> protein truncation -> inhibit muscle regeneration
Onset before 5y of progressive weakness, calf pseudohypertrophy from fibro-fatty replacement of muscle, use of upper extremities to stand up, waddling gait
Associated w/ dilated cardiomyopathy
Becker muscular dystrophy
X-linked NON-FRAMESHIFT mutations to dystrophin -> partially functional protein -> Less severe sx than Duchenne muscular dystrophy
Williams syndrome
Congenital microdeletion of long arm of chromosome 7
Elfin face, intellectual disability, hypercalcemia from vit D sensitivity, CV problems
Well-developed verbal skills and extremely friendly with strangers
von Gierke disease
Type I glycogen storage disease
AR Deficient Glucose-6-phosphatase
Severe fasting hypoglycemia, high liver glycogen, high blood lactate, high TGs, high uric acid, hepatomegaly
Treat w/ frequent oral glucose and avoid fructose, galactose
Pompe disease
Type II glycogen storage disease
AR Deficient lysosomal a-1,4-glucosidase (acid maltase)
Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death
(Pompe can’t pump blood)
Cori disease
Type III glycogen storage disease
AR Deficient debranching enzyme (a-1,6-glucosidase)
Milder form of type I
Normal blood lactate, intact gluconeogenesis
McArdle disease
Type V glycogen storage disease AR Deficient myophosphorylase High glycogen in muscle, but can't be broken down -> Painful muscle cramps, myoglobinuria w/ strenuous exercise, arrhythmia from electrolyte abnormalities Blood glucose typically unaffected Treat w/ vit B6 (cofactor) (McArdle = Muscle)
Caisson’s disease
Decompression sickness
Air emboli form due to N2 precipitation in ascending divers
Treat with hyperbaric O2
Treacher Collins syndrome
1st pharyngeal arch neural crest cells fail to migrate ->
Mandibular hypoplasia, facial abnormalities
Kallmann syndrome
Failure to complete puberty
Defective migration of GnRH cells (and anosmia from defective formation of olfactory bulb) -> Low GnRH synthesis -> Low FSH, LH, testosterone -> Infertility
(Form of hypogonadotropic hypogonadism)
Brenner tumor
Benign solid ovarian epithelial tumor - yellow-tan, often encapsulated
Looks like bladder
Call-Exner bodies - cuboidal epithelium in a rosette w/ “Coffee bean” grooved nuclei on H and E
Meigs syndrome
Triad of ovarian fibroma, ascites, and hydrothorax
Asherman syndrome
Secondary amenorrhea due to obstruction from scarring of the uterine cavity
Sequela of uterine infection and procedures
Werdnig-Hoffman disease
AKA spinal muscular atrophy
AR congenital degeneration of anterior horns of spinal cord = LMN lesions -> Floppy baby w/ hypotonia, tongue fasciculations
(Same lesions as CNS polio, but congenital)
Death by 7 months
Marcus Gunn pupil
Afferent defect to CN II or retina
Decreased bilateral pupillary constriction when light is shown in the affected eye
Tested w/ swinging light
Argyll-Robertson pupil
“Prostitute’s pupil”
Constricts w/ accommodation, but doesn’t react to light
Associated w/ 3o syphilis
Parinaud syndrome
Lesion in superior colliculi due to stroke, hydrocephalus, pinealoma -> Paralysis of conjugate vertical gaze
Kluver-Bucy syndrome
Lesion in bilateral amygdala associated w/ HSV-1 -> Loss of fear, disinhibited behavior (hyperphagia, hyperorality, hypersexuality)
Signs of hypercalcemia
Muscle weakness, polyuria, polydipsia, constipation
Signs of hypocalcemia
Muscle cramps, perioral paresthesias, hypotension, neuromuscular excitability
Brugada syndrome
AD pseudo-right bundle branch block and V1-V3 ST elevations
Increased risk of ventricular arrhythmias
Treat with implantable cardioverter-defibrillator
Asian males
Wolff-Parkinson-White syndrome
Abnormal fast accessory conduction pathway between atria and ventricle bypasses AV node -> Early partial ventricular depolarization
Characteristic delta wave before widened QRS with short PR interval
May result in reentry circuit -> Supraventricular tachycardia
Arteriolosclerosis types
Affects small arteries, arterioles
Hyaline - pink deposits thickening of walls in essential HTN, DM
Hyperplastic - ‘onion skinning’ fibrinoid necrosis in malignant HTN
