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JK BD Study deck 1
| Question | Answer |
|---|---|
| Down Syndrome | Endocardial Cushion Defects |
| Digeorge | Tetralogy of Fallow Aortic arch abnormalities |
| Fredreich Ataxia | Cardiomyopathy |
| Marfan | Cystic media necrosis of aorta |
| Tuberous sclerosis | Valvular obstruction due to cardiac rhabdomyomas |
| Turner's syndrome | Coarctation of the aorta |
| Bacterial synovial fluid | High synovial WBC >100,000/uL, absent crystal on microscopic examination |
| Colchicine: Reduces acute inflammation of gouty arthritis | |
| How does Beta blocker work? | Inhibiting the neurotransmitter receptor interaction in adrenergic individual |
| Tyrosine to DOPA by what enzyme | Tyrosone Hydroxylase, rate limiting step. |
| Reserpine, | Inhibits dopamine reentry into presynaptic vesicles, causes sympathectoy: Reduce BP, HR |
| Guanethidine | Inhibit NE release, lower BP and HR |
| How TCA and Cocain works? | Inhibit NE reuptake by presynpatic neurons |
| Etoposide and Podophyllin | Targets topoisomerase II. Relase DNA supercoil by breaking both strands, Topo I only breaks one strand. Used in testicular cancer, SM cell lung cancer. Podophylin for genital warts. |
| 5FU and 5-deoxyuridine | Inhibits thymidine synthase |
| Methotrexate | Inhibit DHFReductase |
| Irinotecan and Topotecan | Inhibit Topoisomerase I |
| Vincristine Vinblastin | Distrups microtubules |
| Lactose | Glucose and galactose |
| repressor protein | Binds to the operator region to decrease transcription of x y and z |
| Lac Operon | Negatively bind repressor protein to the operator region, 2) Positively by cAMP -CAP binding |
| Cells involved in Type 1 hypersensitivity | Mast cells, Basophils, IgE |
| LAD supplies blood to? | Interventricular septum and ant. Wall of left ventricicle |
| How would Transmural ischemia of the septum present in EKG? | ST elevation on Lead V1 and V2. Possible Infranodal (Mobitz type II) 2nd or 3rd degree block |
| How would Transmural ischemia of the left ventricular wall present in EKG? | ST elevation on Lead V3 and V4. Possible Infranodal (Mobitz type II) 2nd or 3rd degree block |
| LCX occlusion of heart in EKG would show | ST V5 and V6 elevation |
| Posterior Inferior wall of the left ventrical is supplied by what Blood vessel | RCA |
| Meperidine | Cause less sphincter of Oddi, constriction, opiod of choice in biliary and pancreatic pain |
| Protein A | Binds Fc portion of IgG, preventing activation of complements--> impairs opsonization and decreased productionof C3b |
| Friedreich ataxia: Mutation of Ch. (, Frataxin: Ecessential Mitochondrial gene. | Mutation of Ch. 19., Frataxin: Ecessential Mitochonxia 1) Gait abnormalities 2) Degeneration of dorsal columns and orsal root, Degenerationof vibration and position sense. 3) Kyphoscoliosis and foot abnormalities (pes cavus) 4. Hypertrophic cardiomyopath |
| Poliomyelitis | Flacid paralysis, atrophy, muscle faciciulation, also in AML |
| Drug induced interstitial nephrtis (AIN) | NSAIDs, Sulfonamides, Rifampin, Diuretics. Peripheral eosinophilia eosinophiluria most important clue. Renal Infiltration |
| Henoch Schonlein Purpura (HSP) | Age of 3 and 10, antigen exposure to suscpetible individual lead to IgA production and immune complex, within the renal mesangium. |
| Patient with CGD susceptible to | Staph. Aure, Pseudomona, Aspergillus, Nocardia, Serratia, |
| Mucinous cystadenocarcinoma | Malignant neoplas, from Ovarian surface. Produce mucin--> Psudo myxoma peritonei, peritoneal cavity fills with mucin |
| Dysgerminoma | Malignant Ovarian tumor of germ cell origin. Eqv. To testicular seminoma |
| Benign cystic teratoma (Dermoid cyst) | Produce excessive thyroid hormone, |
| Granulosa Tumor | Secretes estrogen -> Hyper extrogenic state |
| Occlusion of Anterior Inferior Cerebellar artery | Lateral inferior tpontine syndrome: Contralateral loss of pain and temp, Ipsilateral cranial V and VIII, horner's syndrome |
| Occlusion of Posterior Inferior cerebellar artery: | Contral lateral loss of pain and temp, Ipsilateral deficit of 5,8,9,10,11,12 |
| MEN 2B | Medullary Carcinoma, Pheo, Mucosal Neuroma, Associated with Ret OnCO |
| MEN 2A | Medullary Carcinoma, Pheo, Parathyroid |
| Thyroid derived from | Neurocrest, 4th pharyngeal pouch, and also Neuro creast also form Adrenal gland |
| Kallman Syndrome | Anosmia |
| DiGeorge | 22p11, facial, cardiac, thymic dysplasia, thymic aplaia, failure of parathyroid formation. Failure of 3rd and 4th pharyngeal pouches. Also tetralogy of falow |
| Cri-Du Chat | 5p Syndrome |
| Praderwilli | CH. 15 deletion |
| IL-3 | Support Bone Marrow Stem cell |
| L-3: | Support Bone Marrow Stem cells |
| IL-4: | Product of Th2, promoting IgE and IgG production by B-cells |
| IL-5: | Product of Th2 cells, Stimulate Eosinophil production(activate them), and activates B-cell synthesis of IgA. |
| IL-10 | : Down regulate immune response. |
| IL-13: | Th2 cell product promotes IgE production. |
| in an African American female point to of sarcoidosis. | Finding of Hilar adenopathy, pulmonary infiltrates, and non-caseating lupus is diagnosis |
| Calcitonin- | Secreted by C-cell of thyroid gland, blocks osteoclastic activity. Very useful marker for medullary thyroid cancer and used to treat hypercalcimia. |
| Urinary Pyridinoline level- | makes crosslink between collagen fibers. Used to moniter Osteoclastic acitivy, and more reliable than tartrate-resistant acid phosphatase, urinary hydoxyproline. |
| Trisomy 13 - | Patau Syndrome (Rocker bottom feet), Precordial mesoderm is affected: so this affects midface, eyes, forebrain, severe lip palet, micropthalmia, cyclops, severe mental retardation atrial septal defect, ventricular septal defect. polydactyly, rocker-botto |
| Trisomy 18 | Edward Syndrome, Micrognathia, Micropthalmia, low set ears, Small mouth,, |
| Trisomy 21 - | Flat face, abnormal ear, single palmar crease. |
| Oligohydramnios: | due to renal agenesis. No fetal urine--> reduction in amniotic fluid. Amniotic fluid required for proper lung maturity. |
| Potter syndrome: | pulmonary hypoplasia, limb deformity, characteristic facial features due to lack of amniotic fluid |
| Maternal Hyperglycemia - | Large for gestational age, Post-natal hypoglycemia |
| Maternal hypertension and proteinuria: | HELLP Hemolytic anemia, Elevated liver enzyme, Low Platelet count |
| Partial mole: | typically triploid and contains fetal parts |
| Upon damage, Subendothelial collagen release | that promotes platelet adhesion, aggregation, PDGF(from platelet), and beta-TGF. PDGF promotes migration (mitogenic) of Smooth Muscle cells, and beta-TGF acts as chemotactant. |
| Eosinophils: | Important in IgE mediated response and immunity against parasites. |
| .2 IFN-gamma responsible | for the formation of phagolysosome (contains harsh bacterial acid), and inducible nitric oxide synthase that produce free radical and intermediate. IFN-gamma also activates macrophage, macrophages release TNF to recruit monocytes to the area. Recruited m |
| Leukotriene C4: | causes vasoconstriction, bronchospasm, vascular permeability |
| Thromboxane A2: | Platelet aggregator and vasoconstrictor. |
| C3a: | Stimulates mast cells to release histamine, and increases vascular permeability and vasodilation. |
| Mitochondrial encephalomyopathy: | Neuromusculare lesion, ragged red muscle fibers, lactic acidosis., Follows maternal interitance pattern |
| Classic for Aortic regurgitation (AR): | 1) Large systolic left ventricule pulse 2) Large pulse pressure 3) Large regurgitant SV 4) Increased left diastolic ventricular volume due to incompetent aortic valve → Bounding femoral carotid pulse pressure. Some patient present with head bobbing with c |
| Aortic stenosis: | Delayed and prolong pulses (pulsus parvus). Aortic ‘shudder’ thrill also be present. |
| Tx for Acute mania: Mood stabilizers | (Lithium, valproic acid, carbamazapine) + (Olanzapine |
| Anti-psychotics: | Lorazepam (Medium half life) , chlordiazepoxide (long half-life) |
| Buproprion: | Norephinephrine and Dopamine reuptake inhibitor. Tx for depression and smoking addiction. Theoretical risk: exacerbating mania |
| Adult Hemoglobin: | Alpha2-Beta2 |
| Fetal Hemoglobin: | Alpha2-gamma2, has very tight binding bc it doesn’t have affinity to 2,3BPG |
| HgS: | Sickle cell disease: Alpha2-beta(mutated)2 |
| HbC: | Alpha2-beta(glutamate-->Lysine)2, causes hemolytic anemia |
| Alpha Thalassemia: | defect in synthesis of alpha globin. |
| Glycogenolysis: | 1,4 glycogen phosphorylation , until 4 sugars are left, then debrancher enzyme acts on. (Either as glucan transferase or Amylo-alpha-1,6 glucosidase |
| Cori’s Disease: | Debranching enzyme deficiency (Cori disease), Hypoglycemia, hyper triglyceridemia, ketoacidosis, and hepatomegaly. Differentiated with other debranching enzyme deficiency by checking dextrin-like structure in hepatic cytosol with absence of fatty infiltr |
| Pompe’s disease: | deficiency of lysosomal enzyme acid maltase, has both 1,4 and 1,6 glucosidase activity. Doesn’t present with hypoglycemia, but with cardiomegally, and generalized hypotonia. |
| Von Gierke’s disease: | Glucose-6-phosphatase deficiency. Only occurs in liver b/c this enzyme doesn’t occur in muscle. Hepatic steatosis is cardinal manifestation of this disorder. Hypoglycemia, lactic acidosis, hyperlipidemia, hyperuricemia. |
| Gaucher disese: | Glucoerebroside disease, Glucocerebrosidase deficiency |
| McArdle’s syndrome: | Glycogen phosphorylase of the muscle cells. Decrased muscle tolerance, muscle pain, and cramping during exercise, and myoglobinuria. Blood lactate is often very low. Muscle biopsy shows excess of glycogen. |
| Heroin: | Euphoria, constricted pupils, lethargy, clammy skin, and nausea |
| Amphetamine: | Anxiousness, high blood pressure, dry mouth, hallucination |
| Cocaine: | Inhibits reuptake of norepinephrine, dopamine, serotonin, Rapid heart rate, blurry vision, tremors, twitching, chest pain, dry mouth, irritability |
| LSD: | Seratonergic agonist. Pupil dilation, agitation, increase HR, Hallucination, Paranoia |
| Down syndrome increases risk for | Alzheimers. which is associated with neurofibrillary tangles and senile plaques. APP gene is located in Chromosome 21, and the extra chromosome 21 would yield greater expression of APP (Amyloid precursor protein), that gets cleaved to form A beta-amyloid, |
| Other Associations with down syndrome: | 1) AML or ALL, 2) Cardiac abnormalities: Endocardial cushion, VSD, and ASD |
| Spongiform transformation: | Characteristics of Cruzfeldt-Jacob disease. Manifested by rapidly progressive dementia and myoclonic jerks. |
| Meckel Diverticulum | derived from failure of obliteration of omphalomesenteric duct. Present with Lower GI bleeding by acid secretion by ectopic gastric mucosa present in the diverticulum, causing melena, lower right quadrant pain, currant jelly stool. |
| Lechithinase: | referred as the alpha toxin or phospholipase C, produced by Clostridium perfrigen, capable of destroing RBC, leukocytes, endothelial cells, |
Created by:
jskim
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