Uploaded by Tatiana Alvarado


SHIT TO KNOW FOR BOARDS Auto-­‐Antibodies ANA Anti-­‐Smith (↑specific) Anti-­‐dsDNA Anti-­‐histone Anti-­‐ CCP RF (IgM vs Fc of IgG) Anti-­‐centromere Anti-­‐ DNA Topoisomerase I (Scl70) Anti-­‐ mitochondrial Anti-­‐ microsomal Anti-­‐ endomysial Anti-­‐ Transglutimidase Anti-­‐gliadin Anti-­‐ desmoglein Anti-­‐thyroglobin Anti-­‐microsomal Anti -­‐TSH receptor Anti-­‐ Jo1 Anti-­‐Mi Anti-­‐SRP Anti-­‐ SSA/Ro Anti-­‐ SSB/La Anti-­‐ Smooth Muscle Anti-­‐Glutamate decarboxy (GAD65) C-­‐ANCA P-­‐ANCA SLE, Nonspecific SLE Drug Lupus Rheumatoid Arthritis Scleroderma (CREST) Scleroderma (diffuse) Primary Biliary Cirrhosis Hashimoto’s Thyroiditis Celiac Disease Pemphigus Vulgaris Hashimoto’s Thyroiditis Graves disease Polymyositis, Dermatomyositis Sjogren’s Syndrome Autoimmune Hepatitis Diabetes Type 1 Granulomatois polyangitis (wegners) Microscopic polyangitis, Churg Strauss Myasthenia gravis Good pastures Antiphospholipid antibody syndrome Bullous pemphigoid Pernicious anemia Mixed CT disease (RA + SLE) TTP, ITP Anti-­‐ACH Anti-­‐BM Anti-­‐cardiolipin, Lupus anticoagulant Anti-­‐hemidesmosome Anti-­‐parietal Anti-­‐U1 RNP Anti-­‐platelet factor 4 HLA Subtypes A3 Hemochromatosis B27 PAIR Psoriasis, Akylosing Spondy, IBD, Reiter DQ2/DQ8 Celiac DR2 MS, SLE, Goodpasture DR3 DM, Graves Disease DR4 DM, Rheumatoid Arthritis DR5 Hashimoto’s, Pernicious anemia A, B, C MHC-­‐I (chromo 6) DR, DP, DQ MHC-­‐II (chromo 6) First Aid 2015 Hypersensitivity Types “ACID” Type 1 Anaphylaxis Allergic rhinitis Hay fever Food allergy Hives Asthma Atopic dermatitis (eczema) Type 2 Acute hemolytic transfusion rxn Autoimmune hemolytic anemia Erythroblastis fetalis ITP, TTP, HIT Pernicious anemia Good Pastures Graves Guillian Barre Myasthenia Gravis Bullous pemphigoid Pemphigoid vulgaris Rheumatic Fever Addisons disease Type 3 Serum sickness Arthus reaction SLE Polyarteritis nodosa Post-­‐Streptococcal glomerulonephritis Occupational pneumonitis Type 4 Contact dermatitis Tuberculin rxn Granuloma rxn Graft-­‐vs-­‐Host Sarcoidosis Berylliosis Crohn’s disease Rheumatoid arthritis Type I Diabetes Mellitus Hashimoto thyroiditis Multiple sclerosis Sjogrens Transplant rejections Hyperacute HSR II (abo mediated) = vessel occlusion Acute Cell mediated against MHC = Vasculitis of graft Chronic MHC nonself seen as self = IRREVERSIBLE vasc necrosis Graft v Host T cell prolif against foreign = M/P rash, jaundice, diarrhea SHIT TO KNOW FOR BOARDS Neurotransmitters in Diseases ↓ACH, ↑glutamate ↓ACH, ↓GABA, ↑Dopa ↓Dopa, ↑ACH ↓GABA, ↓5HT, ↑NE ↓Dopa, ↓5HT, ↓NE ↑Dopa Ventral tegmentum/Substantia nigra ↑Huntingtons ↓Parkinson, ↓Dementia ACH Basal nucleus of Meynert ↑Parkinsons ↓Huntingtons, ↓Alzheimers NE Locus Cereuleus ↑Anxiety ↓Depression 5-­‐HT (Serotonin) Raphe nucleus ↓Depression, ↓Anxiety GABA Nucleus accumbens ↓Anxiety, ↓Huntingtons Tumor Markers PSA Prostate CA CEA Non-­‐specific Colorectal/Panc/gastric/breast/thyr AFP Hebatocellular Carcinoma Non-­‐seminoma germ cell tumors Hydatiform moles βhCG Choriocarcinoma CA-­‐125 Ovarian cancer CA19-­‐9 Pancreatic Adenocarcinoma S100 Melanoma, Schwannoma Alk Phos Pagests of bone, Boney mets Bombesin Neuroblastona, lung’/gastric CA TRAP Hairy cell leukoplakia Cacitonin Medullary Thyroid CA Oncogenic Bugs HTLV-­‐1 (RNA) Adult T –cell Leukemia/lymphoma HPV (DNA) Genital, Upper respiratory SqCCa H. pylori Gastric adenocarcinoma/lymphoma Schistosoma Bladder cell CA (SqC) Liver fluke Cholangioarcinoma EBV (DNA) Endemic Burkitt’s lymphoma, Nasopharyngeal carcinoma, Hodgkin’s lymphoma HHV8 (DNA) Kaposi Sarcoma Hep B & Hep C Hepatocellular carcinoma Alzheimers Huntingtons Parkinsons Anxiety Depression Schizophrenia Dopamine First Aid 2015 Immunology Markers C3b Binds Bacteria C3a, C5a Anaphlaxis C5a Neurtophil chemotaxis T cells CD3 (w/ TCR) CD28 (w/ B7 on APC) B cells CD 19, 20, 21 (CD21 a/w EBV – and BCellL0) Helper T CD4 (to MHC II) , CD40 L (to M0) [makes INF-­‐alpha] Cytotoxic T CD8 (to MHC II) Regulatory T CD3, CD4, CD25 [makes IL-­‐10, THGb] …ANTI-­‐INFLAMMATORY… Macrophages C3b Receptor, B7, CD40 CD14, CD40, TLR and act by ↑NF-­‐kB NK cells CD16, CD56. Activated by IL2, IL12,TNFα. If cell ≠express KIR then activate KAR to kill cell. Gram (-­‐) Endotoxin/LPS Mast cells Activated: (1) Tissue trauma. (2) Complement C3a & C5a. (3) Crosslink of IgE w/ Ag Shock CVP CO SVR (preload) (afterload) Hypovolemic ↓↓ ↓ ↑ Cardiogenic & ↑ ↓↓ ↑ Obstructive Septic distributive ↓ ↑ ↓↓ Neuro distributive ↓ ↓ ↓↓ Conditions a/w neoplasms Down Syndrome ALL, AML Xeroderma pigm. Melanoma, Basal/SqCCA Tuberous sclerosis Renal angiomyolipoma Cardiac rhabdomyoma Actinic Keratosis Squamous CCA of skin Plummer –Vinson Squamous CCA of esophagus Cirrhosis HCCA Ulcerative colitis Colonic Adenocarcinoma nd
Paget of bone 2 Osteosarcoma, Fibrosarcoma Autoimmune Dx Lymphomas Acanthois nigricans Visceral CA (stomach, lung) Radiation exposure Leukemia, Papillary thyroid, Breast CA Notable nuclei Nucleus solitaries X -­‐ visceral sensory (medulla) Nucleus ambiguous X -­‐ motor (medulla) Dorsal motor X -­‐ autonomic motor (medulla) Spinal nucleus V -­‐ pain & temp face (pons/medulla) Main sensory V -­‐ crude touch face (pons) Mesencephalic V -­‐ proprioception (pons) SHIT TO KNOW FOR BOARDS Chemical carcinogens Aspergillus Aflatoxins Hepatocellualar CA Vinyl Chloride Angiosarcoma of liver Nitrosamines Gastric CA Cigarette smoke Esophageal SCC/Adenocarcinoma SCC of larynx & lung Small cell CA of lung Renal cell CA Transitional bladder CA Pancreatic Adenocarcinoma Cervical carcinoma Asbestos Bronchogenic carcinoma Mesothelioma of lung Arsenic Angiosarcoma in the liver Lung cancer SCC of skin Alkyating agents Leukemia/lymphoma Aromatic amines Transitional cell CA of bladder Carbon tetrachloride Centrilobular necrosis, fatty change in the lung Ethanol SCC of the esophagus Hepatocellular CA Ionizing radiation Papillary thyroid carcinoma nd
Radon Lung cancer (2 MCC after cigs) Paraneoplastic syndromes ACTH SmCCA of lung ADH Small Cell CA of lung Intracranial neoplasms PTHrP SqCCA of lung Renal CCA, Breast CA 1,25 OH Vit D3 Hodgkins lymphoma Erythropoitin Renal CCA, Hemangioblastoma HCCA, Pheochromocytoma L-­‐Eaton Syndrome Small Cell Lung CA Rescue drugs Cisplatin and Carboplatin Amifostine and ↑hydration Cyclophosphamide Mesna Doxorubicin/Daunorubicin Dexrazoxane Methotrexate Leucovorin (folinic acid) Antibiotics to avoid in pregnancy “SAFe Children Take Really Good Care” Sulfonamides Kernicterus Aminoglycosides Ototoxicity Flurorquinolones Cartilage damage Clarithromycin Embryotoxic Tetracyclines Discolored teeth, poor bone growth Ribavirin Teratogenic Griseofulvin Teratogenic Chloramphenicol Gray baby syndrome First Aid 2015 Toxoplasmosis Other (syphilis) Rubella Herpes (CMV) Herpes (HSV) Herpes (ZVZ) “TORCHES” Infections Toxoplasma gondii. Parasite. In cats. Tachyzoites infect. S/S: hydrocephalic, cerebral calcificaitons, jaundice, hepatosplenomeg Treponema pallidum. Hydrops, thick placenta, ascites. If stillbirth >20wks, send for syphilis testing. Tx: PENICILLIN. Rubella. RNA togaviriade. Vaccinate before preg. S/S: radiolucent bones, deaf, “blueberry muffin” rash. CMV DNA herpesviriade. Vertical transmission in first ½ preg. PCR at >20wk. Herpes DNA herpesviriade. ACYCLOVIR to rd
(+)mom in 3 trimester to prevent lesions. If lesion, then do C-­‐section prior to ROM! Varicella DNA herpesviriade. Congenital malforms if exposed first ½ preg. If contact 5d pre/post delivery, Tx w/ VZIG w/in 72h. CD4 <500 CD4 <200 CD4 <100 Diseases a/w HIV(+) Oral thrush → Candida albicans Oral hairy leukoplakia → EBV Bacillary angiomatosis → Bartonella (Nø) Kaposi sarcoma → HHV8 (Lø) Chronic watery poo → Cryptosporidium SCC→ HPV Brain abscesses → Toxoplasma HIV dementia PML → JC virus PCP pneumonia → Pneumocystis jirovecii Fungal pneumonia → Aspergillus fumigatus Meningitis → Cryptococcus neoformans Esophagitis → Candida albicans Retinitis, esophagitis, pneumo, encephal → CMV B-­‐cell/Non-­‐hodgkin’s lymphoma → EBV Pneumonia/disseminated → Histoplasma Nonspecific → Mycobacterium avium intracellulare SHIT TO KNOW FOR BOARDS SYSTOLIC Heart murmurs @ A -­‐ Systolic. Crescendo-­‐
decrescendo w/ Ejection click. Radiates to carotids/apex. Pulsus parvus et tardus "Pulses are WEAK with a DELAYED PEAK" Seen in = Age-­‐related valve calcification, bicuspid aortic valve. Innocent/Flow murmur @ A -­‐ Systolic. Any ↑ pressure states. Seen in = HTN, preggo Hypertrophic @ P -­‐ Systolic. Hear S4 heart sound cardiomyopathy "A-­‐stiff-­‐heart.” Harsh crescendo-­‐
decrescendo murmur. ↑ w/ VALSALVA/STANDING ASD murmur @ P -­‐ Systolic. Midsystolic flow murmur. Loud S1 + WIDE FIXED S2 VSD murmur @ T -­‐ Systolic. Harsh holosystolic murmur. ↑HAND GRIP Still murmur @ T -­‐ Systolic. Musical or vibratory murmur. Normal in kids 2-­‐7yo Tricuspid Regurgitation @ T -­‐ Systolic. High pitched blowing murmur. Radiates to left sternal border.↑ w/ inspiration and leg raising (all R heart sounds) Seen in = RV DILATION Mitral Regurgitation @ M -­‐ Systolic. High pitched blowing murmur. Radiates toward axilla. S3 indicates severity (↑
ventricular filling/↑volume) Seen in = long standing MVP, LV DILATION, post-­‐MI, EARLY RF. Mitral Prolapse @ M -­‐ Systolic. Late systolic crescendo w/ midsystolic click. Seen in = IE, CT dz (marfans), CHORDAE TENDONAE RUPTURE. Aortic Stenosis DIASTOLIC Heart murmurs Aortic regurgitation @ P/T -­‐ Diastolic. High pitched "blowing.” Wide pulse pressure when chronic. Bounding (Waterhammer) pulses & head bobbing.↑ if leaning forward. Seen in = Bicuspid valve, Aortic root dilation (syphilis), IE, RF Tricuspid Stenosis @ P/T -­‐ Diastolic. Diastolic rumble Seen in = CARCINOID SYNDROME Mitral stenosis @ M -­‐ Diastolic. Opening snap w/ late diastolic rumbling. Loud S1. S2 to opening snap time indicates severity. Shorter the interval the worse the stenosis. ↑ w/ expiration & left lateral recumbent Seen in = Late RF Cardiac Myxoma @ M-­‐ Diastolic. Early diastolic *PLOP* Seen in = myxoma tumor MC in L atrium. First Aid 2015 PDA CONTINOUS Heart murmurs @P continuous -­‐ Left sternal border Loud S2 Machine like murmur. Can radiate to the back. Seen in = Congenital rubella, Prematurity Splitting of Heart Sounds Increase split w/ inspiration. Seen in = anything decreasing RV emptying -­‐ pulmonic stenosis, right bundle branch block. S2 WIDE FIXED splitting Increased split w/ inspiration & expiration. Seen in = shunting of blood from left to right increasing blood in RV & delays closing -­‐ ASD. S2 PARADOXIC splitting Increased split w/ expiration. Seen in = conditions that delay LV emptying -­‐ aortic stenosis, left bundle branch block S2 WIDE splitting Maneuvers of Heart Sounds Valsalva/Standing ↓ volume, ↓ preload ↑ Hypertrophic cardiomyopathy ↑ MVP w/ EARLIER click ↓ All other murmurs Squatting ↑ volume, ↑ venous return to R heart, ↑ arterial press ↑ AS ↓ MVP w/ LATER click ↓ HCM Inspiration/Leg Raising ↑ venous return to R heart ↑ All right heart sounds (Tricuspid especially) Handgrip ↑ PVR, ↑ afterload ↑ Regurg & VSD ↓ MVP w/ LATER click Leaning forward ↑AR Left lateral recumbent ↑ MS,↑ S3, S4 SHIT TO KNOW FOR BOARDS CARDIAC Coronary Vasospasm Flushing Dilated cardiomyopathy Torsades de pointes HEME Acranulocytosis Aplastic anemia Hemolytic anemia Hemolysis G6PD def Megaloblastic anemia RESPIRATORY Pulmonary Fibrosis GI Cholestatic hepatitis Hepatic Necrosis C. difficile Pancreatitis REPRODUCTIVE Gyenocomastia Hyperglycemia Hypothyroid MSK/CT Fat redistribution Gingival hyperplasia Gout First Aid 2015 Myopathies Cocaine, -­‐triptans, ergots “VANC” = Vancomy, Adenosine, Niacin, Ca channel blocker Doxyrubicin (Adriamyacin) “ABCDE” = AntiArryth = Class IA and III AntiBiotic = Macrolides Anti “C”sychotic = Haldol AntiDepress = TCA AntiEmetic = Ondansetron "Gangs CCCrush Myeloblasts and Promyleocytes" = Clozapine, Carbamazepine, Colchicine, Methimazole, PTU, Dapsone "Cant Make New Blood Cells Properly" = Chloramphenacol, Methimazole, NSAIDS, Benzene, PTU Methyldopa, PCN “hemolysis IS D PAIN" = Isoniazid, Sulfonamides, Dapsone, Primaquine, Aspirin, Ibuprofen, Nitrofurantoin “Have a blast w/ PMS” = Phenytoin, MTX, Sulfa “Breathing Air Badly from Meds” = Bleomycin, Amio, Busulfan, MTX Erythromycin "Liver HAVAc" = Halothane, Amanita phalloides (death cap mushroom), Valproic Acid, Acetaminophen Clindamyin, Ampicillin "Drugs Causing A Violent Abdominal Distress" = Didanosine, Corticosteroids, Alcohol, Valproate, Azathioprine, Diuretics “Some Drugs Cause Awesome Knockers” = Spiro, Dig, Cimetidine, Alcohol, Ketoconazol "Taking Pills Necessitates Having blood Checked" Tacrolimus, Protease inhibitors, Niacin, HCTZ, Corticosteroids Lithium, Amio, Sulfonamide Protease inhibitors Phenytoin, Verapamil "Painful Tophi and Feed Need Care" = Pyrazinamide, Thiazides, Osteoporosis Photosensitivity Rash (SJS) SLE-­‐like Teeth in peds Tendonitis/rupture RENAL Diabetes insipidus Fanconi’s Hemorrhagic cystitis Intersticial nephritis SIADH NEURO Parkinson’s like Seizures MULTIORGAN Antimuscarinic Disulfram rxn Nephro/Ototoxic Lactic Acidosis Sulfa allergy P450 Inhibitors (-­‐) P450 Inducers (+) P450 Substrates Furosemide, Niacin, Cyclosporine “Fish N’ CHIPS” = Fibrates, Niacin, Colchicine, Hydroxychloroquine INF-­‐a, Penicillamine, Statins. Heparin, Steroids Sulfonamides, Amio, Tetracy = SAT for a photo "Seizure sulfa cillin" = PCN, Carbamazepine, Sulfa, Lamotrigine, Allopurinol, Phenytoin, Phenoparbatol “SHIPP” = Sulfa drugs, Hydralazine, Isoniazide, Procanamide, Phenytoin Tetracyclines Fluoroquinolones Lithium Expires Tetracycline Cyclophos, isosfamide Methicilin, NSAIDs, Lasix "Cant Concentrate Sodium" = Carbamezapine, Cyclophosphamide, SSRIs “cogwheel rigidity of the ARM" = Antipsychotics, Reserpine, Metoclopramide “I BITE My tongue” = Isoniaziede, Bupropion ,Imipenem, Tramadol, Enflurane, Metoclopromide Atropine, TCA, H1 block Metronid, Cephalo, Procarbazine, st
1 gen sulfony Aminoglycosides, Vanc, Loop diuretic, Cisplatin Metformin "Popular FACTSSS" = Furosemide, Acetazolamide, Celecoxib, Thiazides, Sulfonamide Abx, Sulfasalazine, Sulfonylureas "CRACK AMIGOS" = Cimetidine, Ritonavir, Amiodarone, Ciprofloxacin, Ketoconazole, Acute Alcohol, Macrolides, Isoniazid, Grapefruit, Omeprazole, Sulfonamides "Corona Guinness and PBR induce Chronic Alcoholism" = Carbamazepine, Grisofulvin, Phenyoin, Barbs (Phenobarb), Rifampin, Chronic alcohol… Also St. Johns wort, Nevirapine "Always Think When Outside" = Anti-­‐epileptics, Theophylline, Warfarin, OCPs SHIT TO KNOW FOR BOARDS First Aid 2015 Lead EDTA, Dimercaprol, succimer, Antidotes penicillamine Acetaminophen N-­‐acetylcystine Lithium Thiazide diuretics (lithium (replenish glutathione) reabsorbed at PCT with Na) AchE inhibitors, 1. Atropine (competitive inhibit) Mackrel, Tuna Scombroid poisoning Organophosphates, 2. Pralidoxime (2-­‐Pam-­‐Cl; (preformed histamine in the fish) Parathion, Sarin gas, regenerates ACHesterase) Mercury Dimercaperol (BAL), Succimer Amphetamines (basic) NH4Cl-­‐ (Acidify) Methanol (moonshine), Fomepizole > Ethanol + Dialysis Antimusc, Jimson weed, Physostigmine salicylate, ethylene glycol (antifreeze) Atropine control hyperthermia Methemoglobin Methylene blue, vitamin C Arsenic, gold Penicillamine, Dimercaperol Niacin/Vitamin B3 Aspirin Benzodiazepines Flumazenil (GABA receptor Opioids, heroin, Naloxone, Naltrexon, antgonist) prescription drugs Methadone Beta-­‐ Blockers Glucagon (increases cAMP in Phenobarbital, HCO3 Bicarbonate (to alkalize cardiac tissue) methotrexate, ASA, TCAs urine, increase excretion) Carbon monoxide (CO) 100% O2, hyperbaric oxygen Poison dart frogs Curare Cinchonism (Quinidine) IV MgSO4 (block nicotinic ACh receptors) Copper Penicillamine Reef fish Ciguatoxin (Na+ channel activator) Cyanide Nitrite + thiosulfate + hydroxocobalamin Salicylates NaHCO3 (alkalize), Dialysis Digitalis, digoxin “KLAM” = check K+, Lido, Anti-­‐
Serotonin syndrome (SSRI Cyproheptadine (Serotonin dig FAb, Mg+ + another drug) receptor antagonist) Fugu puffer fish Tetrodotoxin TCA NaHCO3 (alkalinize) (Na channel blocker) Theophylline Beta blocker Heparin Protamine sulfate tPA, Steptokinase Aminocaproic acid Iron Deferoxamine, Deferasirox Warfarin Vitamin K, FFP Isonizaid, 5-­‐FU Pyridoxine (Vitamin B6) FLEAS & LICE Flea (Rat flea Xenophylla, Cat flea Ctenoceph) Bubonic/Pneumonic plague → Yersinia pestis Endemic murine typhus → Rickettski typhi Pumpkin seed tapeworm (ingest flea from dog saliva) → Dipylidium caninum Body louse (Pediculus humanis corporis) Trench fever → Bartonella quintana Bacillary angiomatosis → Bartonella quintana Epidemic typhus → Rickettsia prowazkii Epidemic relapsing 3 day fever → Borrellia recurrentis Pediculosis “body lice” TICKS Hard Tick (Ixodes scapularis) Lyme disease → Borrelia burgdefori “Deer tick” Human granuolocytic Anaplasmosis → Anaplasma phagocytophilum Babesiosis → Babesia microti Powassan encephalitis → Powassan virus -­‐ Flaviviridae Hard Tick (Dermacentor andersoni, D. variabilis) Rocky Mountain spotted fever (RMSF) → Rickettsia rickettsia “Wood tick, Dog Tick” Colorado tick fever → Colorado tick fever virus (CTFV) -­‐ Reoviridae Hard Tick (Amblyomma americanum) STARI variant Lyme Disease → Borrelia lonestarii “Lone star tick” Human monocytic Ehrlichiosis → Ehrlichia chaffeensis Canine/Human granulocytic Ehrlichiosis → Ehrlichia eqingii Tularemia → Francisella tularemia Soft Tick (Ornithodoros hermsi) Relapsing 10 day fever → Borrelia hermsii SHIT TO KNOW FOR BOARDS First Aid 2015 Toxins & Virulence factors Binds Fc region of IgG. Prevents opsonization and phagocytosis. Cleaves IgA. Protein A IgA protease Virulence factors ≠ protein synthesis Increase fluid secretion ≠ phagocytosis M protein Listerolysin (LLO) ActA Diptheria toxin Exotoxin A Shiga toxin Shiga-­‐like toxin Heat labile toxin Heat stable toxin Edema toxin Cholera toxin Pertussis toxin Tetanospasmin ≠ NT release Botulinum toxin Alpha toxin Streptolysin O Enterotoxin A & B TSST-­‐1 Shock Superantigen Exotoxin A Endotoxin Lipopolysaccharide (LPS) Lyse cell membranes Prevent phagocytosis. Involved in molecular mimicry. Cholesterol dependent, rupture endosomem release bacti Actin polymerization to make tail to move INTERcellular Inactivate elongation factor 2 Inactivate elongation factor 2 Inactivate 60s ribosome by removing adenine from rRNA Inactivate 60s ribosome by removing adenine from rRNA ↑↑adenylate cyclase, ↑cAMP, ↑Cl, ↑H2O secretion into GI ↑↑guanylate cyclase, ↑cGMP, ↓resorb of NaCl & H2O in GI Mimics acetylate cyclase to ↑cAMP ↑↑adenylate cyclase (↑cAMP) by permanently activates Gs to ↑Cl & H2O secretion into GI ↑↑adenylate cyclase (↑cAMP) by disabling Gi, impairing phagocytosis to permit survival of microbe. Cleave SNARE to prevent release of inhibitory (GABA & Glycine) NT from Renshaw cells in spinal cord (acts in CNS) Cleave SNARE to prevent release of stimulatory (ACh) NT at neuromuscular junction (acts in PNS). Phospholipase (lecithinase) that degrades tissue/memb. Protein that degrades cell membranes to lyse RBCs Disrupt enterocyte cytoskeleton, kill cell, pseudomembrane Binds MHC-­‐II & TCR =↑↑IL1, IL2, IFNγ, and TNFα = shock. Binds MHC-­‐II & TCR =↑↑IL1, IL2, IFNγ, and TNFα = shock. Activates Mø = IL1, TNFα, NO; activates complement = C3a, C5a; activates tissue factor = DIC. S. aureus S. pneumo, H.influ, Neisseria S. pyogenes (GAS) Listeria Listeria Corynebacti diphtheria Pseudomonas auerginosa Shigella spp. E. coli (EHEC) E. coli (ETEC) E. coli (ETEC) Bacillus anthracis Vibrio cholera Bordetella pertussis Clostridium tetani Clostridium botulinum Clostridium perfringens Strep pyogenes (Group A) Clostridium difficile Staph aureus Strep pyogenes (Group A) Outer memb all Gram (-­‐) and Listeria monocytogenes Fredrich Ataxia Sturge Weber syndrome Tuberous sclerosis Neurofibromatosis I Neurofibromatosis II Von Hipple Lindaeu Methemoglobemia Pulmonary HTN Huntington’s Parkinson’s Alzheimer’s Rett syndrome α thalassemia β thalassemia Sickle cell anemia HbC defect Sideroblastic anemia Specific genetics/enzymes AR. GAA repeat on Chromo 9. Frataxin gene (mitochondrial iron regulatory protein) Somatic. GNAQ gene. Port wine, tram track calcifications. AD. TSC1 -­‐ harmatin & TSC2 -­‐ tuberin (tumor suppressor genes). Ash leaf spots, Shagreen patches. AD. Mutated NF1 gene on Chromo 17. (RAS GTPase activating protein). Lisch nodules. Café au Lait. AD. Mutated NF2 gene on Chromo 22. (Merlin protein). AD. Mutation in VHL gene on Chromo 3. (≠hypoxia inducible factor 1). Hemangioblastoma, RCC. +3
≠NADH cytochrome reductase, oxidized to Fe cannot bind O2. Inactivating mutation BMPR2. Young female w/ Exertional dysnea. Plexiform lesions. AD. CAG repeat on chromo 4. Huntin gene. ↓ACH, ↓GABA, ↑Dopa. ↓Dopa, ↑ACH. Loss of Dopa neurons in substantia nigra pars compacta. Lewy bodies of α -­‐synuclein. ↓ACH, ↓Glutamate. Aβ-­‐amyloid plaques & tau protein tangles. Risk: ↓ApoE2, ↑ApoE4, presenilin. XR. mutation in MECP2 gene (methyl CpG binding protein 2). Stereotyped hand wringing Chromo 16. Deletion of α. 1 or 2 delete -­‐asyx. 3 deletions HbH β 4. 4 deletions Barts γ 4. Chromo 11. Point mutation of β. Major ↑ HbF, ≠HbA. Minor ↑ HbA2, ↓ HbA. Chromo 11. Glutamic acid (hydrophilic) replaced with Valine (hydrophobic). Chromo 11. Glutamic acid replaced with Lysine (“lycine = C for HbC”) ≠∂-­‐ALA synthase w/ cofactor B6. SHIT TO KNOW FOR BOARDS Lead poisoning Orotic aciduria AML M3 Promyelocytic ALL CML Hodgkin’s lymphoma CLL Mantle cell lymphoma Burkitt’s lymphoma Follicular lympohoma Hairy cell leukemia AIP PCT Li-­‐Fraumeni syndrome Agammaglobulinemia Hyper IgE/Job Syndrome Digeorge syndrome Hyper IgM syndrome SCID Wiskott-­‐Aldrich syndrome Ataxia-­‐Telangitasia Chronic granulomatous dz Chediak-­‐Higashi LAD Sonic hedgehog gene Wnt-­‐7 gene FGF gene Homeobox (Hox) gene SRY gene Papillary thyroid CA Medullary thyroid CA CAH 17hydroxylase def CAH 21hydroxylase def CAH 11hydroxylase def Achondroplasia Pagets disease of bone Osteopetrosis Osteogenesis imperfect Langerhans histiocytosis Giant cell tumor Osteoid osteoma Ewig sarcoma Osteogenic sarcoma Osteochondroma Ménétrier’s disease Polyps Sporadic Colorectal CA Lynch syndrome (HNPCC) FAP Gardner syndrome Turcot syndrome Puetz-­‐Jegers syndrome Cowden syndrome Bannaya-­‐Revalaba-­‐Reiv Juvenile polyposis synd. First Aid 2015 ≠ALA dehydratase; ≠ferrochelatase ≠UMP synthase. Tx w/ uridine monophosphate to bypass. +Auer rods, >20% blasts, +Myeloperoxidase. T(15;17) PML-­‐RARA. +PAS, +TdT, +CD10,CD34. t(12;21) in kids good prognosis. t(9;22) in adults poor prognosis. ↓LAP. t(9;22) BCR-­‐ABL +CD15, +CD30, -­‐CD20, Reed-­‐Sternberg cells. +CD20, +CD5, +CD23. Smudge cells. Warm AIHIA. +CD20, +CD5, -­‐CD23, +Cyclin D. t(11;14). +CD20, +CD10, Starry sky bx. +EBV. t(8;14) C-­‐MYC. +CD20, +CD10,t(14;18) BCL-­‐2 +CD20, -­‐CD10, +CD25, +CD125. +TRAP. Hairy Cells. ≠Porphobili deaminase. ↑ ↑Porphobilinogen ≠uroporphyrinogen decarboxylase. ↑ ↑uroporphyrinogen. AD. Abnormal TP53. “SBLA” -­‐ Sarcoma, breast, leukemia, adrenal cancers. XR. Defect BTK gene (tyrosine kinase). No CD19 cells. AD. Mutation STAT3 gene ↓Th17 and ↓INFγ. th
22q11.2 deletion. No 3/4 paryngeal pouches. No thymus, parathyroids. XR. Defect CD40L. ≠class switch. XR -­‐ defect IL2 receptor. AR -­‐ ADA deficiency. XR. Mutated WAS gene ≠reorganize cytoskeleton. XR. Mutated ATM gene. ≠repair DNA. t(7;14). XR. Defect GP91ox for NADPH oxidase. Infx w/ catalase bugs. Colorless NBT test. AR. Defect LYST gene. ≠Lysosomal trafficking protein. Giant granules in WBCs. AR. Defect in LFA-­‐1 integrin (CD18). ≠chemotaxis. Produced at base of limbs involved in patterning along AP axis. Holoprosencephaly. Apical ectodermal ridge (thickened ectoderm at distal end of each developing limb). Pattern DV axis. Produced at apical ectodermal ridge. Stimulates mitosis of underlying mesoderm. Lengthen of limbs Patterning of embryo in craniocaudal. Transcription factors. Appendages in wrong direction. On Y chromo, produes testis determining factor to secrete muellerian inhibitory factor. RET and BRAF mutations. Orphan annie eye cells. Psammoma bodies. Pap > Foll > Med > Ana > Lø RET mutations. A/w MEN2A and MEN2B. Sheets of C-­‐cells in amyloid stroma. ↓cortisol, ↓ sex, ↑ BP, ↓K, ↓ androstenedione. XY pseudohermaphrodism. XX lack of 2˚ sex signs. ↓cortisol, ↓mineralocorticoids, ↑ sex, ↓ BP, ↑ K, ↑renin, ↑ 17hydroxy. Salt wasting, early puberty. ↓cortisol, ↑ sex, ↑ BP, ↓K, ↓ aldosterone & renin. XX virilization. CAH w/o salt wasting. AD. Activating mutation in FGFR3 cannot make cartilaginous model. ↑both osteoclast and osteoblast activity. ↑ ALP only. Defect in carbonic anhydrase II. Osteoclasts ≠make acidic environment for bone b/d. AD. Deficiency type I collagen. ≠gylcosylate the triple helix, ≠collagen, ≠ bone. ↑# of fx. Blue sclera +CD1a, +s100. Lytic bone lesions. Defect osteoclasts. Only one in EPIPHYSISES. “Soap bubble” on Xray. Osteoblasts. Diayphsis. Bone pain @ night better w/ aspirin. t(11;22) EWS-­‐FLI1. Small blue cell tumor. “Onion skinning” on Xray. “Codman triangle” or “Sunburst pattern” on Xray. @ Metaphysis. EXOPHYTIC bone mass @ metaphysis. Hypertrophied rugae, ↓acid, ↓pepsin (protein loss). ↑ TGFα, ↑ EFGR. Pre-­‐malignant = Serrated (a/w BRAF). Malignant = Adenomatous (a/w APC/KRAS). Normal→loss of APC→KRAS mutation (GTPase, ↑cell signal) → loss of p53 & DCC (tumor suppress) AD. ≠ DNA mismatch repair (MSH1 & MLH) w/ microsat. instable. Endometrial, Ovarian, skin, CRC. AD. APC tumor suppressor, chromo 5. AD FAP variant. Hypertrophic retina, supernumery teeth, soft tissue/osseous tumor. AD FAP variant. Malignant CNS tumor. AD. Harmatomus GI, hyperpig mouth, hands, genitals. CRC, breast, stomach, GI, pancreas, lung CA. AD. Mutuated PTEN tumor suppressor. Gi harmatomas, hemangiomas, lipomas. Vairant Cowden + MR. AD. Kids <5yo. Harmatomous polys + CRC, stomach, small GI cancers. SHIT TO KNOW FOR BOARDS Hirschsprung disease Wilson’s disease Hemochromotosis Hepatocellular carcinoma α1-­‐Antitrypsin deficiency Primary biliary cirrhosis 1˚ Sclerosing cholangitis Romano-­‐ward syndrome Jervell-­‐Lange-­‐Neilsen Syn Brugada syndrome Hartnup disease Lesch-­‐Nyhan syndrome McCune-­‐Albright Synd. Prader-­‐Willi syndrome Angleman syndrome Kartageners syndrome Ehlers-­‐Danlos syndrome Marfan syndrome Menke disease Cystic fibrosis Duchenne MD Becker MD Myotonic MD Fragile X syndrome Cri-­‐du-­‐chat Williams syndrome Essential fructosuria Fructose intolerance Galactokinase deficiency Classic galactosemia Ornithine transcarb def Phenylketonuria (PKU) Maple syrup urine disease Alkaptonuria (ochornosis) Cystinuria Homocystinuria Von-­‐Gierke disease Pompe disease Cori disease Anderson disease McArdle disease Her’s disease Fabry disease Gaucher disease Neiman-­‐Pick disease Tay-­‐Sachs disease Krabbe disease Metachromatic leukodys Hurler disease Hunter disease Hyperchylomicronemia Familial hypercholestem. Hypertriglyceridemia First Aid 2015 Loss of fx RET oncogene. Must dz w/ rectal suction bx. AR. ATP7B gene chromo 13. (Canalicular copper transport membrane ATPase). ↑ceruloplasmin. AR. C282Y or H63D mutation HFE gene chromo 6. Build up of Iron. A/w HLA-­‐A3. HBV>HCV, alcohol, aspergilllus alfatoxin, genetic (αA1AT, Wilsons, Hemochromtosis). ↑ AFP marker. **Codominant** ≠SERPINA1 (protease inhibitor) via Pi gene on chromo 14. Misfold +PAS globules. +anti-­‐mitochondrial antibody. ↑↑HDL. Xanthelasma. +p-­‐ANCA(MPO). ↑IgM. +HLA-­‐DR52. AD. Congenital ↑QT . AR. Congenital ↑QT + senioneural deafness. AD. Asian male w/ Pseudo-­‐RBBB (“M”) and ST elevation in V1-­‐V3. AR. No neutral AA transporters in PCT. Deficient of tryptophan. Pellagra like symptoms. XR. Deficiency of HGPRT so no purine salvage. “HGPRT” hyperuric, gout, pissed, retard, dysTonia. **Mosaicism** Mutation G-­‐protein signaling. “4P” Precocious Puberty, Pigment, Polyost. Dysplasia **Imprinting** Hyperphagia, hypotonia, obese. PATERNAL deletion chromo 15. **Imprinting** MR w/ inappropriate laughter. MATERNAL deletion chromo 15. AR. Defect dynein arm cause immotile cilia. AD/AR. Defect collagen crosslinking. If marfan-­‐like ≠type V coll. If vascular dz, ≠type III coll. AD. Defect in fibrillin (scaffold for elastin). FBN1 mutation chromo 15. Archnodactyl. Sublux lens. XR. Defect in ATP7A copper transport ≠crosslink collagen. ↓lysyl oxidase. Kinky brittle hair. AR. Defect CFTR gene on Chromo 7. ≠ATP-­‐gated Cl-­‐ channel. Dx w/ Cl-­‐sweat test >60. XR. Defect dystophin gene **Frameshift** Cannot connect cytoskeleton, necrosis. Seen before 5yo XR. Defect dystophin gene **NONframeshift** Seen in adolescence. AD. Defect myotonin protein kinase via CTG repeat in DMPK gene. Frontal balding, Hatchet faced. XR. Defect methylation/expression of FMR1 gene via CGG repeat. Xtra large testis, jaw, ears. Microdeletion of short arm chromo 5. Cry like a cat, epicanthal folds. Microdeletion of long arm chromo 7 (includes elastin gene). Elfin faces, very friendly. AR. Defect fructokinase. ↑fructose blood & urine. Asyx. AR. Defect aldolase B. ↑fructose-­‐1-­‐Phosphate, ↓↓available phos. Hypoglycemia s/p juice/honey. AR. Deficiency galactokinase. Infantile cataracts. Developmental delays. AR. Deficiency galactose-­‐1-­‐phosphate uridyltransferase. Infantile cataracts. Failure to thrive. XR. Deficiency ornithine transcarb. ≠excrete ammonia. ↑↑orotic acid, ↓BUN. NO megalo anemia AR. Deficiency phenylalanine hydroxylase or tetrahydbioptrin. Tyrosine now essential AA. AR. Deficiency α -­‐ketoacid dehydrogenase. ≠degrade BRANCHED FA (Isoleucine, Leucine, Valine) AR. Deficiency homogenisate oxidase. ≠degrade tyrosine to fumarate. Brown sclera, black urine. AR. Deficiency PCT reabsorption “COLA” = Cystine, Ornithine, Lysine, Arginine. +CN-­‐nitroprus test AR. Def cysthione synthase or methaltrans. ↑↑Homocystine. MR, marfanoid, lens sublux. AR. Def Glucose-­‐6-­‐phosphatse. Severe hypoglycemia if fasting, lactic acidosis. AR. Def lysosOMal-­‐α1-­‐4-­‐glucosidase (acid maltase). Hypertrophic cardiomyopathy. AR. Def (C→D) Debranching enzyme (α1,4 glucosidase). Normal lactate. Gluconeogenesis intact. AR. Def (A→B) Branching enzyme. Infantile hypotonia. Cirrhosis. AR. Def Muscle glycogen phosphorylase. Myoglobinuria. Muscle cramps. Tx: Vit B6. AR. Def Hepatic glycogen phosphorylase. Mild fasting hypoglycemia. *XR* Def α -­‐galactosidase A ↑↑ceramide trihexoside. Peripheral neuropathy, angiokeratomas. AR. Def glucocerebrosidase. ↑↑Glucocerebroside. Aseptic necrosis of femur. Gaucher cells. AR. Def sphingomyelinase. ↑↑sphingomyelin. Cherry red macula. Hepatomeg. Foam cells. AR. Def hexoaminidase A. ↑↑GM2 ganglioside. Cherry red macula. Onion skinning. NO hepatomeg. AR. Def galactocerebrosidase. ↑↑galctocerebroside, psychosine. Optic atrophy. Globoid cells. AR. Def Arylsulfatase A. ↑↑Cerebroside sulfide. Ataxia, dementia. AR. Def α -­‐L-­‐Iduronidase. ↑↑Hep & dermatin sulfate. Gargoylism. Corneal clouding. *XR* Def Iduronate sulfaTase. ↑↑Hep & dermatin sulfate. Aggressive behavior. NO corneal cloud. AR. Def LPL & ApoC-­‐II. ↑↑↑TAGs and ↑↑Chylomicrons. Pancreatitis. NO ↑risk atherosclerosis. AD. LDL receptor deficiency. ↑↑↑Cholesterol and ↑↑LDL. Xanthomas. ↑↑risk atherosclerosis. AD. VLDL overproduction. ↑↑↑TAGs and ↑↑VLDL. Pancreatitis. TAGs >1000. SHIT TO KNOW FOR BOARDS First Aid 2015 Trisomies Downs syndrome Edwards syndrome Patau syndrome BRAIN Cancers Glioblastoma Meningioma Hemangioblastoma Schwannoma Oligodendroma Pilocytic astrocytoma Medulloblastoma Ependyoma Craniopharyngioma LUNG Cancers Small cell carcinoma Adenocarcinoma Bronchioalveolar subtype Squamous cell carcinoma Large cell carcinoma Bronchial carcinoma LADY Neoplasms & Cancers Stromal hyperthecosis Endometrioma Serous cystadenoma Mucous cystadenoma Brenner tumor Demoid cyst/Teratoma Dysgerminioma Endoderm/Yolk Sac tumor Choriocarcinoma Granulosa cell tumor Thecoma tumor Fibroma tumor BOY Neoplasms & Cancers Seminoma Yolk sac tumor Choriocarcinoma Teratoma Embryonal carcinoma Leydig cell tumor Sertoli cell tumor Testicular lymphoma Trisomy 21. **Meiotic nondisjunction > Robertsonian translocation** ↑risk AML <5yo, ALL >5yo. st
1 tri diagnosis = US (↑nuchal transparency, hypoplastic nasal), ↓PAPP-­‐A, ↑ hCG. nd
2 tri diagnosis = Quad screen, ↓AFP, ↑hCG, ↓estriol, ↑inhibin A Trisomy 18. Rockerbottom feet, low set ears, overlapping fingers, VSD. st
1 tri diagnosis = US, ↓PAPP-­‐A, ↓ hCG nd
2 tri diagnosis = Quad screen, ↓AFP, ↓ hCG, ↓estriol, normal/↓ inhibin A Trisomy 13. Rockerbottom feet, palate issues, holoProsencepahly, Polydactyl. st
1 tri diagnosis = US (↑nuchal transparency), ↓PAPP-­‐A, ↓ hCG Cross corpus callosum “Butterfly glioma” +GFAP. Pseudopalisading around areas of necrosis. Dura on convex/parasagittal region. Dural tail. Spindle shaped whorled cells. Psammoma bodies. Cerebellar location. Produce erythropoietin. Close thin walled capillaries w/ minimal parenchyma. Cerebellopontine angle. +s100. Frontal lobes in white matter. Chicken wire capillaries & Fried egg (clear) oligodendro +/-­‐ calcificy. Cerebellum kids. +GFAP. Rosenthal fibers (corkscrew eosinophilic processes of astrocytes). Mural tumor (cystic w/ solid mass within). th
4 ventricle kids. Drop mets. Solid w/ small blue cells. Homer-­‐Wright rosettes. th
4 ventricle kids. Perivascular rosettes. Rod-­‐shapaed basal cilliary bodies called blepharoplasts. Near pituitary (often confused). Remnant of Rathke pouch. +/-­‐calcifications (dentin like material). MYC oncogenes. Makes ↑ACTH, ↑ADH, Lambert-­‐Eaton Synd. +Chromogranin A. +Kulchitsky Cells. KRAS, EGFR, ALK genes. +mucin. Hypertrophic osteoarthropathy (clubbing) AdenoCA in situ. Grow along septae. +mucin. Think in pneumonia resistant to tx. Hilar cavitation. ↑PTHrP, ↑ Ca. Kertain pearls. Pleomorphic giant cells. β -­‐hCG. Polyp like mass in bronchi -­‐ stridor. +hChromogranin A. Post-­‐menopausal. ↑ LH= ↑theca hyperplasia ↑androgen= virilization. Homogenous white ovary. Endometriosis of the ovary. “Chocolate cyst of ovary” B/L. Filled w/ serous fluid. Psammoma bodies, expressances. A/w BRCA1 -­‐ CA of ovary & fallopian. U/L but multilocular. Filled w/ mucus. A/w pseudomyxoma peritonei -­‐ “jelly belly” -­‐ mucus ascites. Solid tan w/ Transitional epi. “Coffee-­‐bean” nuclei. A/w coexisting mucinous cystadenoma. MC benign germ tumor. All 3 germ layers. ↑ AFP +/-­‐ ↑ hCG. MC malignant germ-­‐ teens. ↑ LDH, ↑ β-­‐hCG. U/L multicolor, Lø cuffing & clear polygonal cells. Glomerulus like Schiller-­‐Duval body. Secretes ↑ AFP, ↑ α1AT. Malignant trophoblast (no villi) s/p molar preg. ↑ ↑hCG. Thetca-­‐leutin cysts. Hemoptysis, lung mets. Small blue, rosette pattern Call-­‐Exner bodies. Early puberty or post-­‐menopause bleed. ↑ ↑estrogen. Like granulosa w/ ↑ ↑estrogen but benign. Bleed in post-­‐menopausal. B/L. Spindle cells w/ lipid. A/w Meig’s syndrome = pelvic pain, ascites, R-­‐side hydrothorax. “Fried egg” cells w/o necrosis. ↑ AFP, ↑ hCG, ↑ placental ALP. <3yo. Glomerulus like Schiller-­‐Duval body. Secretes ↑ AFP, ↑ α1AT. Small testis mass w/ LARGE mets. Gynecomastia, hyperthyroid. ↑ ↑hCG. All three germ cell layers. More likely malignant in men. ↑ AFP +/-­‐ ↑ hCG. Painful hemorrhagic mass. ↑ AFP or ↑ hCG. Golden brown tumor w/ reinke crystals. Androblastoma. MC in men >60. Met from lymphoma -­‐ usually diffuse large B cell. SHIT TO KNOW FOR BOARDS First Aid 2015 BCR-­‐ABL BCL2 BRAF c-­‐KIT c-­‐MYC HER2/Neu L-­‐MYC n-­‐MYC RAS RET APC BRCA1/2 BCL DPCH/SMAb4 MEN1 NF1 NF2 P16 P53 PTEN Rb TSC1 TSC2 VHL WTL1/WTL2 3 4 5 6 7 9 11 13 14 15 16 17 18 21 22 X ONCOGENES Gain of function increases cancer risk when defective. Need to damage only one allele. Tyrosine kinase. CML, ALL Inhibit apoptosis. Follicular & Undiff lymphoma Serine/Threonine kinase. Melanoma, Non-­‐Hodgkins Cytokine receptor. GIST tumor. Transcription factor. Burkitt lymphoma. Tyrosine kinase. Breast, ovarian, gastric CA. Transcription factor. Lung tumor. Transcription factor. Neuroblastoma. GTPase. Colon, lung, pancreatic CA. Tyrosine kinase. MEN 2A & 2B. Medullary thyroid CA. TUMOR SUPPRESSOR GENES Loss of function increases cancer risk both alleles must be lost for expression of the disorder Colorectal cancer (associated with FAP) ↓cell adhesion and ↑proliferation DNA repair protein Breast and ovarian cancer "Deleted gene in colon cancer" Colon cancer "Deleted gene in pancreatic cancer" Pancreatic cancer Menin gene MEN 1 Ras GTPase protein (neurofibromin) Neurofibromatosis type 1 Merlin (schannomin) protein Neurofibromatosis type 2 CDK inhibitor 2A Melanoma Tx factor for p21, blocks G1 to S phase Most human cancers; Le-­‐Fraumeni syndrome, E6 gene in cervical cancer -­‐-­‐-­‐-­‐ Breast cancer, prostate cancer, endometrial cancer Inhibits E2F; blocks G1 to S Retinoblastoma, Osteosarcoma, E7 gene of cervical cancer TSC1: Hamartin protein Tuberous sclerosis TSC2: Tuberin protein Tuberous sclerosis Inhibits hypoxia inducible factor 1a Von Hippel-­‐Lindau disease, Renal cell carcinoma -­‐-­‐-­‐-­‐ Wilms tumor (nephroblastoma) Chromosomal abnormalities von-­‐Hippel-­‐Lindau disease, Renal cell carcinoma ADPKD w/PKD2 defect, huntington disease Cri-­‐du-­‐chat syndrome, familial adenomatous polyposis HLA, Hemochromotosis Williams syndrome, cystic fibrosis Friedreich ataxia Wilms tumor, β-­‐thalassemia, Sickle Cell Patau syndrome, Wilson disease α1-­‐Antitrypsin deficiency, Heavy Ig for Non-­‐Hodgkins Prader-­‐Willi Syndrome, Angelman syndrome, Marfans ADPKD with PKD1 defect, α-­‐thalassemia Neurofibromatosis type 1, Edwards syndrome Down Syndrome Neurofibromatosis type 2, Di George Syndrome Fragile X Syndrome, X-­‐linked agammaglobulinemia, Klinefelter Syndrome (XXY) Chromosomal Translocations CML t(9;22) APL (AML3) t15;17 Burkitts Lymphoma t(8;14) Anaplastic Large Cell Lymphoma t(2;5) Follicular lymphoma t(14;18) Ewing Sarcoma t(11;22) Mantle Cell Lymphoma t(11;14) Hairy Cell Leukemia TRAP+ ALL (kids) t(12;21) ALL (adults) t(9;22)