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FA rapid review 2017
| Question | Answer |
|---|---|
| Abdominal pain, ascites, hepatomegaly | budd-chiari syndrome (post hepatic venous thrombosis) |
| abdominal pain, diarrhea, leukocytosis, recent antibiotic use | clostridium difficile infection |
| achilles tendon xanthoma | Familial hypercholesterolemia (low LDL receptor singling) |
| Adrenal haemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Anaphylaxis following blood transfusion | IgA deficiency |
| Anterior "drawer sign" + | anterior cruciate ligament injury |
| Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints | marfan syndrome (fibrilln defect) |
| Athlete with polycythemia | 2nd to erythropoietin injection |
| back pain, fever, night sweats | port's disease (vertebral TB) |
| bilateral acoustic schwannomas | Neurofibromatosis type 2 |
| bilateral hilar adenopathy, uveitis | sarcoidosis (non caseating granulomas) |
| bilateral hilar adenopathy + increased ACH | sarcoidosis |
| black eschar on face of pt with diabetic ketoacidos | Mucor or Rhizopus fungal infection |
| blue sclera | osteogenesis imperfecta (type 1) |
| bluish line on gingiva | lead poisoning (lines called burton lines) |
| bone pain, bone enlargement, arthritis | pages disease of bone (increased osteoblastic and osteoclastic activity) |
| bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing | aortic regurgitation |
| butterly facial rash and raynaud phenomenon in a young female | systemic lupus erythematosus |
| cafe au last spots, litchi nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas | neurofibromatosis type 1 |
| cafe au last spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune-Albright syndrome (mosaic G-protein singling mutation) |
| calf pseudohypertrophy | muscular dystrophy (most common Duchenne, due to x-link recessive frameshift mutation of dystrophin gene |
| cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjuctivae and tongue, hand-foot changes | kawasaki disease (treat with IVIG and aspirin) |
| cherry red spots on macula | 1.tay sachs (ganglioside accumulation 2.niemann - pick (sphingomyelin accumulation) 3.central retinal artery occlusion |
| chest pain on exertion | angina (stable: with moderate exertion; unstable with minimal exertion or at rest) |
| chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis, 2 weeks to several months after acute episode) |
| chest pain with ST depression on EKG | 1.unstable angina (- troponin) 2.NSTEMI (+ troponin) |
| Child uses arms to stand up from squat | Duchenne muscular dystrophy (Gower sign) |
| child with fever later develops red rash on face that spreads to body | erythema infectiosum/fifth disease "slapped cheeks" appearance, caused by parvovirus B19 |
| chorea, dementia, caudate degeneration | hungtingon disease (AD, CAG repeat expansion) |
| Chorioretinitis , hydrocephalus, intracranial calcifications | congenital toxoplasmosis |
| chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | mcardle disease (skeletal muscle glycogen phosphorylase deficiency) |
| cold intolerance | hypothyroidism |
| conjugate horizontal gaze palsy, horizontal diplopia | internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral) |
| continuous "machine like" heart murmur | PDA (close with indomethacin; keep open with PGE analog) |
| cutaneous/dermal edema due to connective tissue deposition | myxoedema (caused by hypothyroidism, graves disease (pretibial)) |
| cutaneous flushing, diarrhea, bronchospasm | carcinoid syndrome (right sided cardiac valvular lesions, increase in 5-HIAA) aka serotonin |
| Dark purple skin/mouth nodules in pt with AIDS | Kaposi sarcoma, associated with HHV-8 . Classification: rhadinovirus. Group 1 (dsDNA). Family: Herpesviridae HHV-8 can cause kaposi sarcoma, primary effusion lymphoma, and some forms of multi centric cattleman's disease |
| Deep, laboured breathing/hyperventilation | Diabetic ketoacidosis (kussmaul respirations) |
| dermatitis, dementia, diarrhea | Pellagra (niacin, vitamin B3 deficiency) |
| dilated cardiomyopathy, edema, alcoholism and malnutrition | wet beriberi (thiamine aka vitamin B1 deficiency) |
| Dog or cat bite resulting in infection | Pasterurella multocida (cellulitis at inoculation site) |
| Dry eyes, dry mouth, arthritis | Sjogren syndrome (autoimmune destruction of exocrine glands) |
| Dysphagia (oesophageal webs), glossitis, iron deficiency anaemia | plummer-vinson syndrome (can progress to oesophageal squamous cell carcinoma) |
| elastic skin, hypermotibility of joints, increased bleeding tendency | ehlers-danlos syndrome (type 5 collagen defect, type 3 collagen defect seen in vascular subtype of ED) |
| enlarged, hard left supraclavicular node | virchow node (abdominal metastasis) |
| Erythroderma lymphadenopathy, hepatosplenomegaly, atypical T cells | mycosis fungoides (cutaneous t-cell lymphoma) or sezary syndrome (mycosis fungicides + malignant T cell in blood) |
| episodic vertigo, tinnitus, hearing loss | meniere disease |
| facial muscle spasm upon tapping | chovostek sign (hypocalcemia) |
| fat, female, forty, and fertile | cholelithiasis (gallstones) |
| fever, chills, headache, myalgia following antibiotic treatment for syphillis | jarisch-herxheimer reaction (rapid lysis of spirochetes results in endotoxin release) |
| fever, cough, conjunctivitis, coryza, diffuse rash | measles |
| fever, night sweats, weight loss | B symptoms (staging) of lymphoma |
| fibrous plaques in soft tissue of penis with abnormal curvature | peyronie disease (connective tissue disorder) |
| golden brown rings around peripheral cornea | wilson disease (kayser-fleischer rings due to copper accumulation) |
| gout, intellectual disability, self-mutilating behaviour in a boy | lesch-nyhan syndrome (HGPRT deficiency, X-linked recessive) |
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/ genitals | Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI) |
| Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis | Gaucher disease ( glucocerebroside deficiency) |
| Hereditary nephritis, sensorineural hearing loss, cataracts | alport syndrome (mutation of collagen 4) can't pee, can't see and can't hear a bee) |
| hyperphagia, hyper sexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion) |
| Hyperreflexia, hypertonia, babinski sign present | UMN damage |
| hyporeflexia, hypotonia, atrophy, fasciculations | LMN damage |
| hypoxemia, polycythemia, hypercapnia | Chronic bronchitis (hyperplasia of mucous cells, "blue bloaters") |
| indurated, ulcerated genital lesions | Non painful chancre ( primary syphilis, treponema pallidum) painful with exudate: chancroid (haemophilus ducreyi) |
| infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia | Palau syndrome (trisomy 13) |
| infant with hypoglycaemia, hepatomegaly | 1. Cori disease (debranching enzyme deficiency) 2. von Gierke disease (glucose 6 phosphatase deficiency, more severe) |
| 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's eye appearance | erythema chronic migrans from Ixodes (X=hit the bull's eye)..lyme disease : borrelia |
| lucid interval after traumatic brain injury | epidural hematoma (middle meningeal artery rupture) |
| male child, recurrent infections, no mature B cells | Bruton disease (x-linked agammaglobulinemia) |
| Mucosal bleeding and prolonged bleeding time | Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
| muffled heart sounds, distended neck veins, hypotension | beck triad of cardiac tamponade |
| multiple colon polyps, osteoma/soft tissue tutors, impacted/supernumerary teeth | gardner syndrome (subtype of FAB) |
| myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | pope disease (lysosomal alpha 1,4-glucosidase deficiency ) |
| neonate with arm paralysis following difficult birth | Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury "waiter's tip" |
| No lactation postpartum, absent menstruation, cold intolerance | sheehan syndrome (pituitary infarction) |
| nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia | Multiple Sclerosis |
| painful blue fingers/toes, haemolytic anaemia | Cold agglutinin disease (autoimmunute haemolytic anaemia caused by mycoplasma pneumonia, infectious mononucleosis, CLL) |
| painful fingers/toes changing colour from blue to white to red with cold or stress | raynaud phenomenon (vasospasm in extremities) |
| painful, raised red lesions on pads of fingers/ toes | Osler nodes (infective endocarditis, immune complex deposition) |
| painless , erythematous lesions on palms and soles | Janeway lesions (infective endocarditis, septic emboli/microabscesses) |
| painless jaundice | cancer of the pancreatic head obstructing bile duct |
| palpable purpura on buttocks/legs, joint pain, abdominal pain (child), , hematuria | henoch-schonlein purpura (IgA vasculitis affecting skin and kidneys) |
| pancreatic, pituitary and parathyroid tumors | MEN 1 (AD) |
| periorbital and /or peripheral edema, proteinuria (>3.5/day), hyperalbuminemia, hypercholesterolemia | nephrotic syndrome |
| pink complexion, dyspnea, hyperventilation | emphysema (pink puffer, centriacinar (smoking) or panacinar (alpha 1 antitrypsin deficiency) |
| polyuria, renal tubular acids type 2, growth failure, electrolyte imbalances, hypophopatemic ricks | falcon syndrome (multiple combined dysfunction of the proximal convoluted tubule) |
| pruritic, purple, polygonal planar papules and plaques (6 Ps) | lichen planus |
| ptosis, mitosis, anhidrosis | horner syndrome (sympathetic chain lesion) |
| pupil accommodates but does not react | neurosyphilis (argyll Robertson pupil) |
| rapidly progressive limb weakness that ascends following GI/URI | guillain-barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype) |
| rash on palms and soles | coxsackie A, second syphilis, rocky mt spotted fever |
| recurrent cold (noninflammed) abscesses, unusual eczema, high serum IgE | hyper IgE syndrome (job syndrome): neutrophil chemotaxis abnormality |
| red currant jelly sputum in alcoholics or diabetic pts | klebsiella pneumonia |
| red currant jelly stools | acute mesenteric schema (adults), intussusception (children) |
| red, itchy, swollen rash of nipple / areola | paget disease of the breast (sign of neoplasm) |
| red urine in morning, fragile RBC | paroxysmal nocturnal hemoglobinuria |
| renal cell carcinoma (bilateral ), hamangioblastoma, angiomatosis, pheochromocytoma | von hippel-lindau disease (chromosome 3, dominant tutor suppressor gene mutation) |
| resting tremor, rigidity, akinesia, postural instability, shuffling gate | Parkinson disease (low dopamine neutrons in substantial nigra pars compacta) |
| retinal haemorrhages with pale centers | roth spots (bacterial endocarditis ) |
| severe jaundice in neonate | crippler-najjar syndrome (congenital unconjugaed hyperbilirubinemia) |
| severe RLQ pain with palpable LLQ | Roving sign (Acute appendicitis) |
| severe RLQ pain with deep tenderness | mcburney sign (acute appendicitis) |
| short stature, cafe au last spots, thumb/radial defects, increase incidence of tumors/ leukaemia, aplastic anaemia | Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
| single palmar crease | down syndrome |
| situs inversus, chronic sinusitis, bronchiectasis, infertility | kartagener syndrome (dyne arm defect affecting cilia) |
| skin hyper pigmentation, hypotension, fatigue | primary adrenocortical insufficiency (ex: addison disease) causes increase in ACTH and increase in alpha MSH production (thus the hyper pigmentation) |
| slow, progressive muscle weakness in boys | Becker muscular dystrophy (x-link missense mutation in dystrophin; less severe than Duchenne) |
| small, irregular red spots on buccal /lingual mucosa with blue-white centers | kopek spots (measles (rebel) virus) |
| smooth, moist, painless, wart-like white lesions on genitalia | condylomata lata (secondary siphilis) |
| splinter haemorrhages in fingernails | bacterial endocarditis |
| strawberry tongue | scarlett fever, kawasaki disease |
| steak oseraies, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema | turner syndrome (45, XO) |
| sudden swollen/painful bleeding, poor wound healing, petechiae | scurvy (vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis) |
| swollen, hard, painful finger joints | osteoarthritis (osteophytes on PIP (bouchard nodes), DIP (heberden nodes) stiff in the afternoon |
| sudden swollen/painful big toe joint, tophi | gout/podegra (hyperuricemia) |
| systolic ejection murmur (crescendo-decrescendo) | aortic stenosis |
| telangiectasis, recurrent epistaxis, skin discolouration, arteriovenous malformation, GI bleeding, hematuria | osler-weber-rendu syndrome |
| thyroid & parathyroid tutors, pheochromocytoma (medullary thyroid cancer- calcitonin) | MEN 2A (AD RET mutation) |
| thyroid tumors, pheochromocytoma, ganglioneuromatosis (mucosal) also marfan looking person | MEN 2B (AD RET mutation) |
| p-glycoprotein | also known as multi drug resistance protein 1 (MDR1), classically seen in adrenocortical carcinoma but also expressed by other cancer cells like colon and liver. pumps out toxins )chemotherapy drugs) so low response overtime->resistance overtime to chemo |
| PDGF (platelet derived growth factor) | secreted by activated platelets and macrophages induces vascular remodelling and smooth muscle cell migration stimulates fibroblast growth for collagen synthesis |
| FGF (fibroblast growth factor) | stimulates angiogenesis |
| EGF | stimulates cell growth via tyrosine kinases (EGFR/ErbB1) |
| TGF-B | Angiogenesis, fibrosis |
| Metalloproteinases | Tissue remodelling (made by neutrophils) |
| VEGF (vascular endothelial growth factor) | stimulates angiogenesis |
| toe extension/fanning upon plantar scrape | UMN Lesion, babiski sign |
| unilateral facial drooping involving forehead | LMN facial nerve (CN 7) palsy; UMN lesion spare with forehead |
| urethritis, conjunctivitis, arthritis in males can't see, can't pee , can't climb a tree | reactive arthritis associated with HLA-B27 |
| vascular birthmark (port wine stain ) of the face | nevus flames (benign, but associated with sturge-weber syndrome) |
| vomiting blood following gastroesophageal lacerations | mallory-weiss syndrome (alcoholic and bulimic pts) |
| weight loss, diarrhea, arthritis, fever and adenopathy | whipple disease (tropheryma whipplei) |
| worst headache of my life | subarachnoid haemorrhage |
| major basic protein | the main protein in eosinophils |
| eosinophils fight anti-helminths or protozoa infections by ..? | major basic protein |
| two commonly used immunosuppressants in transplant pts | cyclosporine and tacrolimus ..inhibit calcineurin activation |
| transplant rejection | by T cells. CD8. calcineurin-->NFAT (nuclear factor of activated T cells) -->enter nucleus and bind to IL-2 promotor. IL2 stimulates growth and differentiation of T cells and its important in the immune response |
| BCL2 over expressed | antiapoptotic-associated with follicular lymphoma t(14:18) translocation |
| E cadherin | glycoprotein used for epithelial cell adhesion. if lost then cell cluster is disrupted. loss of e-cadherin is associated with metastasis and is a predictor of disease progression in some cancers |
| neurofibromin | tumor supressor protein encoded by NF1 gene in chromosome 17. Can protect against cancers and is a key suppressor of RAS, which is one of the most powerful activators of cell growth and proliferation |
| stimulates alpha 1 receptors on surface of cardiac cells, activating k channels and increasing k conductance causing membrane potential to remain negative for a longer period of time, results in transient slowing of the sinus rate leading to AV delay | adenosine |
| inhibits Na/k/ATPase pump in myocardial cells =>increase intracellular NA==>leading to rise in calcium concentration. no affect on k channels and little affect on K efflux | digoxin |
| rapid acting, short duration beta blocker (class 2 anti arrhythmic) =>slows the rate of discharge of sinus or ectopic pacemakers and increase refractory period of AV node. No effect on K efflux | Esmolol |
| type of non-hodkin lymphoma | Diffuse large B cell lymphoma |
| UTI | E coli; Staphylococcus saprophytic (young women) |
| vertebral compression fracture | osteoporosis (type 1: postmenopausal women; type 2: elderly man or woman) |
| viral encephalopathies affecting temporal lobe | HSV-1 |
| Vitamin deficiency (US) | Folate (pregnant women are at higher risk; body stores only 3-to-4-month supply; prevents neural tube defects |
| lecithin /sphingomyelin | @30 weeks lecithin will rise and sphingomyelin will decrease . normal L/S ratio =>2. NRDS <1.5. |
| Lecithin | dipalmitoylphosphatidylcholine |
| histones are rich in | lysine and arganine |
| cerebral perfusion equation | CPP=MAP-ICP |
| corrected reculocyte count | RC x Hematocrit then you divide that by 45. normal count is <1 |
| GFAP | astrocytes , oligodendroglioma, ependymoma |
| collapsing pressure equation | p= 2 surface tension divide that by radius |
| just random reminders | |
| DNA is negative and histones are octamer and positive | |
| H1 binds to the nucleosome also called "linker DNA" and stabilises the chromatin fiber | |
| DNA & histones are made in S phase | |
| heterochromatin | inactive , dark looking . Barr bodies inactive x chromosomes and heterochromatic |
| euchromatic | looks lighter , transcriptionally active |
| DNA methylation | template strand cytosine and adenine are methylated in DNA replication and allows mismatch repair enzyme to distinguish between old and new strands in prokaryotes |
| DNA methylation at CpG islands represses transcription | |
| histone acetylation | relaxes DNA coiling, allowing for transcription |
| GC bonds | (3 H bonds) stronger than AT (2 Hydrogen bonds) |
| you gotta increase the temp if you want to separate GC bonds | |
| Purine requires GAG | glycine , aspartate, glutamine |
| deamination of cytosine makes uracil | |
| methionine and tryptophan are the only two that are encoded by only 1 codon (AUG and UGG) | |
| DNA is semiconservative | |
| AT rich sequences are found in promoters and origins of replication | |
| DNA polymerase 1 is only found in prokaryotes | Degrade DNA primer , and replaces it with DNA . Same function as DNA polymerase 3 but also excises RNA primer with 5' -->3' exonuclease |
| DNA repair for SINGLE STRAND: base excision repair | importnat in spontaneous / toxic deamination. cytosine deamination makes uracil. glycosylate-->endonuclease-->lyase-->beta polymerase --ligase |
| splice site for mutations in DNA | retains introns in mRNA leads to a protein with impaired or altered function . examples are dementia, epilepsy, and some types of beta thalassemias |
| lac operon | its just an example of genetic response to an environmental change. an example is Ecoli who likes glucose , but when no glucose and lactose is available then the lac operon is activated to switch to lactose metabolism. |
| low glucose leads to activation of adenylate cyclase then increase cAMP from ATP and activation then to catabolite activator protein aka CAP and that increases transcription | |
| high lactose leads to unbind repressor protein from repressor /operator site and increases transcription | |
| 3 genes for mRNA to read and start transcription of lactose are LacZ, LacY, LacA | |
| DNA and RNA are both made form the 5'3 . | |
| The 5' end of the incoming nucleotide bears the triphosphate (energy source for bond) | |
| Protein synthesis is N-terminus to C-terminus | |
| mRNA is read 5' to 3' | |
| mRNA start codons | AUG or rarely GUG |
| Eukaryotes codes for | methionine |
| prokaryotes codes for | N-formylmethionine (fMet) |
| mRNA stop codons | UGA, UAA, UAG |
| regulation of gene expression are : | promotor, enhancer, silencer |
| promotor: | site where RNA polymerase 2 and multiple other transcription factors bind to DNA upstream from gene locus (AT-rich upstream sequence with TATA and CAAT boxes) |
| enhancer: | stretch of DNA that alters gene expression by binding transcription factors |
| silencer | site where negative regulators (repressors) bind located close to or far from or even within the intron of the gene whose expression it regulates |
| RNA polymerases in EUKARYOTES | RNA P 1: rRNA ..a ton of them. 2. mRNA (biggest one), 3. 5S rRNA, tRNA (smallest). No proofreading function, but can initiate chains. RNA polymerase 2 opens DNA at promotor site. |
| alpha amanitin in amanita phalloides (death cap mushrooms) | inhibits RNA Polymerase 2, causes severe hepatotoxicity if ingested. |
| RNA polymerases in PROKARYOTES | 1 RNA polymerase (multisubunit complex) makes all 3 kinds of RNA |
| RNA processing in EURAKYOTES | the initial transcript is called heterogeneous nuclear RNA (hnRNA). hnRNA is then modified and becomes mRNA) next slide... |
| then in the nucleus: | 1. a cap on the 5' end of 7-methylguanosine is added 2. polyadenylation of 3' end (about 200 A's) 3. splicing out introns . so capped, tailed, and spliced transcript is called mRNA. |
| then mRNA is taken out of the nucleus and into the cytosol for translation. | |
| mRNA quality control happens in the cytoplasmic processing bodies called P bodies and those have.... | exonuclease, decapping enzymes, and microRNAs; mRNAs may be stored in P-bodies for future translation. |
| Poly-A polymerase does not require a template. AAUAAA=polyadenylation signal | |
| now splicing of pre-mRNA : | 1. primary transcript combines with small nuclear ribonucleoproteins (snRNPs) and other proteins to form spliceosome 2. lariat shaped intermediate is generated 3. lariat is released to precisely remove intron and join 2 axons. |
| Antibodies to spliceosomal snRNPs (antismith antibodies) are highly specific for SLE. Anti -U1 RNP antibodies are highly associated with mixed connective tissue disease | |
| exons have genetic info for coding protein and exit the nucleus and are expressed | introns stay in the nucleus and dont code for DNA . problems with splicing variants can be found in cancers and beta thalassemias |
| microRNAs are small and non coding RNA molecules that posttrascriptionally regulate protein expression. Introns have these microRNA genes. They degrade or inactivate target mRNA and that decreases translation of protein. | Abnormality in miRNAs can lead to malignancies (ex: by silencing an mRNA from tumor suppressor gene) |
| tRNA | cloverleaf form, 75-90 nucleotides. anticodon end is opposite 3' aminoacyl end. All tRNA in prokaryotes and eukaryotes have CCA at 3' end. CCA can carry amino acids. |
| continuation of tRNA | T-arm has the TYC aka ribothymidine, pseudouridine, cytidine) sequence necessary for tRNA ribosome binding. D arm: contains dihydrouridine residues necessary for tRNA recognition by the correct aminoacyl tRNA synthesise. Acceptor stem: the 5'-CCA-3' |
| charging for tRNA | aminoacyl-tRNA synthetase (1 per amino acid, matchmaker and uses ATP) it scrutinises amino acids before and after it binds to tRNA. |
| making of proteins: initiation, elongation and termination | initiation: starts by GTP hydrolysis . 40 and 60 subunits = 80 in eukaryotes . 30 and 50 = 70 in eukaryotes. ATP: tRNA activation , GTP: tRNA gripping and going paces (translocation) |
| elongation: | 1. aminoacyl tRNA binds to A site (except for initiator methionine) 2. rRNA accommodates growing peptide 3. ribosome moves 3 nucleotides towards the 3' end of mRNA then moving peptide tRNA to P site (translocation) |
| A site: incoming Aminoacyl-tRNA P site: accommodates growing peptides E site: holds empty tRNA as it exits | |
| post translation or modification of protein after making it: | trimming: removal of N and C terminal to generate mature protein (ex: trypsinogen to trypsin) Covalent alterations: Phosphophorylation, glycosylation etc etc |
| Chaperone protein : | found inside the cells that help and maintain protein folding |
| preoteosome | degrades damaged or ubiquinated tagged proteins and have been found in cases of parkinson disease |
| collagen synthesis | synthesis: Glycine aka GLY-X-Y (x and y are proline and lysine) hydroxylation: of proline and lysine. needs vitamin c. glycosylation: adds sugar to pro alpha chain. makes triple helix here too by adding hydrogen and disulphide bonds . problem: OI |
| exocytosis: getting ready to come out proteolytic processing: cuts off disulfide rich terminal regions and makes it insoluble tropocollagen. cross linking: cross linking by copper containing lysyl oxidase to make collagen fibrils. | bad cross linking: ehlers danlos syndrome and menkes (ATP7A)..bc of low lysol oxidase) |
| type of non hodkin lymphoma | diffuse large b cell lymphoma |
| UTI | e.coli, staph saprophyticus (young women) |
| vertebral compression fracture | osteoporosis (type 1: postmenopausal woman; type 2: elderly man or woman) |
| viral encephalitis affecting temporal lobe | HSV-1 |
| vitamin deficiency (USA) | folate (pregnant women are at high risk; body stores only 3 to 4 months supply; prevents neural tube defect) |
| primary amenorrhea | turner 45xo or 45,xo/46xx mosaic |
| primary bone tumor in adults | multiple myeloma |
| primary hyperaldesteronism | adenoma of adrenal cortex |
| primary hyperparathyroidism | adenomas, hyperplasia, carcinoma |
| primary liver cancer | hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, alpha1 antitrypsin deficiency, wilson disease |
| pulmonary hypertension | idiopathic, heritable (BMPR2), left heart disease ex HF, lung disease ex cold, hypoxemic vasoconstriction ex OSA, thromboembolic ex PE |
| recurrent inflammation /thrombosis of small /medium vessels in extremities | buerger disease (associated w/ smoking) |
| refractory peptic ulcer and high gastrin level | zollinger ellison syndrome (gastronome of duodenum or pancreas ) associated with MEN1 |
| renal tumor | renal cell carcinoma: associated with 1. von hippie lindau and smoking; 2. paraneoplastic syndrome (EPO, renin, PTHrP, ACTH) |
| right heart failure due to a pulmonary cause | cor pulmonale |
| s3 heart sound | increase ventricular filling pressure (ex : mitral regurgitation, HF, common in dilated ventricles) |
| s4 heart sound | stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy) |
| secondary hyperparathyroidism | hypocalcemina of chronic kidney disease |
| sexually transmitted disease | c trichomatis (usually infected also with gonorrhoea) |
| SIADH | SMALL CELL CARCINOMA OF THE LUNG |
| site of diverticula | sigmoid colon |
| site of atherosclerosis | abdominal aorta then coronary artery then popliteal artery then carotid artery |
| t 14:18 | follicular lymphoma BCL2 activation, anti apoptotic oncogene |
| 8:14 | burkitt lymphoma , c-myc fusion, transcription factor oncogene |
| 9:22 | philadelphia chromosome, CML (BCR-ABL activation, tyrosine kinase oncogene) |
| temporal arteritis | risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica |
| testicular cancer | seminoma (malignant , radiosensitive), increased placental ALP |
| thyroid cancer | papillary carcinoma (childhood irradiation ) |
| tumor in women | leiomyoma (oestrogen dependent , not precancerous ) |
| tumor in infancy | strawberry hemangioma (grows rapidly and regresses spontaneously by childhood ) |
| tumor of adrenal medulla (adults) | pheochromocytoma (usually benign) |
| tumor of adrenal medulla (kids) | neuroblastoma (malignant) |
| type of hodgkin lymphoma | nodular sclerosing (vs. mixed cellularity, lymphatic predominance, lymphocytic depletion) |
Created by:
larissasz
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