Goljan HY Extras
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| T cells | 60-70% total lymphocyte count; ↓ AIDS, DiGeorge, adenine deaminase deficiency
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| B cells | 10-20% total lymphocyte count; ↓ Bruton’s, adenine deaminase deficiency
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| Antigen presenting cells | B cells, macrophages, dendritic cells
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| Langerhan’s cells | antigen presenting cell in skin
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| Major histocompatibility complex | chromosome 6; HLA genes for self-identity
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| Class I proteins | recognized by CD8 T cells and NK cells
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| Class II proteins | recognized by CD4 TH cells
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| Type I reactions | IgE antibodies; mast cells; wheal and flare with bee sting
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| Type II reactions | antibody-mediated; Goodpasture’s syndrome, rheumatic fever
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| Type III reactions | immune complex-mediated; SLE glomerulonephritis
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| Type IV reactions | cellular immunity; granuloma, positive PPD
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| Delayed reaction hypersensitivity reactions | CD4 TH cells and macrophages
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| Cytotoxic reactions | CD8 T cells; killing viral infected cells and neoplastic cells
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| Graft viability | ABO compatibility most important; HLA match
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| Fetus | allograft that is not rejected
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| Hyperacute rejection | type II hypersensitivity; ABO incompatibility or anti-HLA antibodies
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| Acute rejection | predominately cell-mediated reaction; MC rejection
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| Graft vs. host reaction | jaundice, rash, bloody diarrhea
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| IgA immunodeficiency | MC hereditary immunodeficiency; giardiasis, allergies
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| Bruton’s agammaglobulinemia | XR; pre B cannot develop into B cells; S. pneumoniae infections
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| DiGeorge syndrome | failure 3rd/4th pharyngeal pouches to develop; T cell deficiency; absent thymus
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| S/S DiGeorge syndrome | absent thymic shadow; Candida, Pneumocystis infections; hypoparathyroidism
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| Adenine deaminase deficiency | AR; combined B and T cell deficiency; gene therapy
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| Wiskott Aldrich syndrome | XR; combined B and T cell deficiency; eczema, thrombocytopenia
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| AIDS | MC acquired immunodeficiency HIV
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| HIV transmission | MC sexually-transmitted; anal intercourse in homosexuals MCC
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| HIV transmission in health care workers | accidental needle stick from HIV positive patient
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| Follicular dendritic cell | reservoir for HIV in lymph nodes in latent phase
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| AIDS | HIV positive plus CD4, TH cell ≤200 cells/μL or AIDS-defining condition
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| Pneumocystis carinii pneumonia | MC AIDS-defining disorder
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| Screening test for HIV | ELISA test; detects anti-gp120
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| Confirmatory test for HIV | Western blot
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| HIV test with two peaks | p24 antigen; positive prior to seroconversion and when AIDS is diagnosed
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| MC cancer in AIDS | Kaposi sarcoma
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| MC infections CD4 TH <100 cells/μL | CMV, toxoplasmosis, M. avium-intracellulare
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| Hereditary angioedema | deficiency C1 esterase inhibitor; ↓ C2, C4, normal C3
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| Osmosis | H2O shift between ECF and ICF; controlled by serum Na+ and glucose
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| Serum Na+ ~ TBNa+/TBW | decreased TBNa+ dehydration; increased TBNa+ pitting edema
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| Isotonic loss | serum Na+ normal; adult diarrhea, loss whole blood; Rx with 0.9% saline
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| Isotonic gain | serum Na+ normal; Rx with salt and H2O restriction
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| Hyponatremia | ICF expanded; central pontine myelinolysis with rapid IV correction
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| Hyponatremia hypotonic gain pure water | inappropriate ADH syndrome
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| Hyponatremia hypotonic gain TBNa+ and TBW | pitting edema; cirrhosis, RHF
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| Hyponatremia hypertonic loss TBNa+ | dehydration; loop diuretic, Addison’s, 11-hydroxylase deficiency
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| Hypertonic state | hypernatremia or hyperglycemia; ICF contraction
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| Hypernatremia hypertonic gain TBNa+ | pitting edema; sodium bicarbonate
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| Hypernatremia hypotonic loss water | diabetes insipidus
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| Hypernatremia hypotonic loss TBNa+ and TBW | osmotic diuresis, sweat, baby diarrhea
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| Acidosis | potential for hyperkalemia (shift out of ICF)
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| Alkalosis | potential for hypokalemia (shift into ICF)
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| Hypokalemia | loop and thiazide diuretics MCC; alkalosis, albuterol/insulin; U wave
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| Hyperkalemia | renal failure MCC; acidosis, ß-blocker, digitalis toxicity; peaked T wave
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| Rx hyperkalemia | calcium gluconate → insulin with glucose → loop diuretic
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| Respiratory acidosis | PaCO2 >45 mm Hg; compensation metabolic alkalosis
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| Respiratory acidosis | chronic bronchitis, ARDS, barbiturate poisoning, paralysis diaphragms
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| Respiratory alkalosis | PaCO2 <33 mm Hg; compensation metabolic acidosis
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| Respiratory alkalosis | pulmonary embolus, anxiety, early bronchial asthma, restrictive lung disease
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| Metabolic alkalosis | HCO3- >28 mEq/L; compensation respiratory acidosis
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| Metabolic alkalosis | loop/thiazide diuretics, vomiting, primary aldosteronism
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| Metabolic acidosis | HCO3- <2 mEq/L; compensation respiratory alkalosis
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| ↑ AG metabolic acidosis | add anions of acid to extracellular fluid
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| ↑ AG metabolic acidosis | lactate, AcAc, ß-OHB, salicylate, oxalate (ethylene glycol), formate (methyl alcohol), phosphate/sulfate (renal failure)
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| Ethylene glycol, methyl alcohol | compete with alcohol for alcohol dehydrogenase
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| Ethylene glycol poisoning | antifreeze; converted to oxalic acid; renal failure
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| Methyl alcohol poisoning | window wiper fluid; converted to formic acid; blindness
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| Normal AG metabolic acidosis | lose HCO3-; e.g., diarrhea, proximal/distal renal tubular acidosis
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| AFP | increased in open neural tube defects; decreased in Down syndrome
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| PCR | uses DNA polymerase
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| Barr body | inactive X chromosome on nuclear membrane; 1 Barr body in females
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| Missense mutation | point mutation with different amino acid; sickle cell trait/disease, Marfan
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| Nonsense mutation | point mutation producing stop codon; ß-thalassemia major
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| Frameshift mutation | insertion or deletion nucleotides alters reading frame; Tay-Sachs
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| Trinucleotide repeat | disease worse in future generations (anticipation)
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| Trinucleotide repeat disorders | fragile X (XR), Huntington’s (AD), myotonic dystrophy (AD)
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| Nondisjunction | meiosis; unequal numbers of chromosomes
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| Robertsonian translocation | Down syndrome with 46 chromosomes
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| Microdeletion syndrome | genomic imprinting; chromosome 15
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| Paternal microdeletion | Prader-Willi; obese, mental retardation
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| Maternal microdeletion | Angelman’s syndrome; happy puppy syndrome, mental retardation
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| Advanced maternal age | increased risk for trisomies
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| Down syndrome | trisomy 21; leading cause mental retardation
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| S/S | slanted eyes; simian crease; endocardial cushion defect; Alzheimer’s
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| Turner’s syndrome | XO; no Barr bodies; short stature and primary amenorrhea; streak ovaries
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| Klinefelter’s syndrome | XXY; 1 Barr body; female secondary sex characteristics
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| AR | homozygous (aa) for disease; heterozygotes (Aa) asymptomatic
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| AR | most inborn errors metabolism, sickle cell, cystic fibrosis, hemochromatosis, Wilson’s
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| AD | homozygote (aa) or heterozygote (Aa) express disease
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| AD | spherocytosis, Marfan's syndrome, neurofibromatosis, von Willebrand, familial polyposis, polycystic kidney
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| AD | delayed manifestation; penetrance; variable expressivity
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| XR | male transmits to all daughters; female carrier transmits to 50% of sons
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| XR | G6PD deficiency, Bruton, Lesch-Nyhan, testicular feminization, fragile X, hemophilia A/B
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| Fragile X | mental retardation; macroorchidism at puberty; trinucleotide repeat
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| Lesch Nyhan | XR; deficiency HGPRT; hyperuricemia; mental retardation
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| Multifactorial inheritance | gout, type 2 diabetes, essential hypertension
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| Mitochondrial DNA disorder | maternal transmission to all children; no paternal transmission
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| Y chromosome | determines genetic sex
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| Testosterone | develops seminal vesicles, epididymis, vas deferens
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| Dihydrotestosterone | develops prostate and male external genitalia
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| Male pseudohermaphrodite | genetic male; phenotypically female
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| Female pseudohermaphrodite | genetic female; phenotypically male
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| Testicular feminization | XR; deficient androgen receptors; MCC male pseudohermaphrodite
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| 21-Hydroxylase deficiency | ↑ 17 KS, ↓ 17 OH, lose salt, hypotension; female pseudohermaphrodite
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| 11-Hydroxylase deficiency | ↑ 17 KS, ↑ 17 OH, retain salt, hypertension; female pseudohermaphrodite
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| 17-Hydroxylase deficiency | ↓ 17 KS, ↓ 17 OH, retain salt, hypertension; male pseudohermaphrodite
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| Calculate prevalence | carrier rate 1:30; couples at risk
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| Calculate carrier rate | 1:3600; 3600 /4 = 900; √900) = 1:30
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| Malformation | intrinsic problem with morphogenesis
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| HOX gene | involved in embryogenesis
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| Alcohol | MCC of malformations; mental retardation; atrial septal defect
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| Isotretinoin acid | craniofacial and cardiac defects
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| Female with cystic acne needs Rx with retinoic acid | do pregnancy test before placing female on drug
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| DES | problem with mullerian development; clear cell carcinoma of vagina
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| Thalidomide | limb abnormalities
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| Vertical transmission | transplacental (MC), delivery, breast feeding
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| Congenital CMV | MC congenital infection; periventricular calcification; culture urine
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| Congenital toxoplasmosis | basal ganglia calcification; blindness; avoid cat litter in pregnancy
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| Congenital rubella | sensorineural hearing loss (MC); cataracts
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| Congenital syphilis | transplacental after 5-6 months; saddle nose, rhagades, blindness, deformed teeth
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| Congenital herpes | contracted during delivery; encephalitis
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| Deformation | extrinsic problem in fetal development; oligohydramnios causing Potter’s facies
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| Tobacco | leading cause premature death and cancer in United States
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| Nicotine | most addictive substance; attaches to nicotinic cholinergic receptors
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| Tobacco induced cancers | lung, oropharynx, larynx, pancreas, kidney, bladder
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| Alcohol | CNS depressant (cortex, limbic system); legally drunk 80-100 mg/dL
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| Alcohol | induces SER hyperplasia; increases alcohol metabolism
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| Alcohol MCC of | folate/thiamine deficiency; sideroblastic anemia; liver fatty change; pancreatitis
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| Alcohol | hypoglycemia; lactic/ketoacidosis; ↑ triglyceride; AST>ALT; ↑ GGT
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| Ketoacidosis in alcoholic | ß-hydroxybutyric acid
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| Heroin | poppy plant; non-cardiogenic pulmonary edema; focal segmental glomerulosclerosis
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| MPTP | meperidine derivative; produces parkinsonism
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| Cocaine | blocks uptake of dopamine/norepinephrine; mydriasis; AMI, CNS infarction
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| Marijuana | tetrahydrocannabinol (THC) binds basal ganglia receptors; delayed reaction time; red conjunctiva
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| Intravenous drug abuse | HBV hepatitis MC systemic disease
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| Acetaminophen toxicity | damage by FR acetaminophen; liver cell necrosis; renal papillary necrosis
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| Rx acetaminophen toxicity | N-acetylcysteine (increases synthesis of glutathione)
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| Salicylate toxicity | metabolic acidosis + respiratory alkalosis; hyperthermia; tinnitus, vertigo
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| Estrogen risks | thromboembolism; cholestasis; endometrial/breast cancer
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| Oral contraceptives | cholestasis, thrombosis, folate deficiency, hypertension, hepatic adenoma
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| Hemolytic anemia | penicillin, methyldopa, quinidine
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| Aplastic anemia | benzene, chloramphenicol
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| Qualitative platelet dysfunction | NSAIDs
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| Thrombocytopenia | heparin, quinidine
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| Macrocytic anemia | methotrexate, 5-fluorouracil, phenytoin, OC, alcohol
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| Congestive cardiomyopathy | doxorubicin, daunorubicin
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| Interstitial fibrosis | bleomycin, methotrexate
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| Hemorrhagic gastritis | iron toxicity, NSAIDs
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| Liver necrosis | acetaminophen, isoniazid, salicylates, halothane, isotretinoin acid
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| Cholestasis | anabolic steroids, OC
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| Fatty change in liver | amiodarone, tetracycline, alcohol
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| Photosensitive rash | tetracycline
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| SLE | procainamide, hydralazine
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| Isopropyl alcohol | ↑ acetone; CNS dysfunction
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| Lead | microcytic anemia, nephrotoxic ATN (proximal tubule), gout, encephalopathy, neuropathy
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| Mercury | fish (tuna, salmon); nephrotoxic ATN; constricted visual fields
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| Organophosphates | blocks acetylcholine esterase; miosis; paralysis; Rx. atropine, pralidoxime
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| Polyvinyl chloride | plastic pipes; angiosarcoma of liver
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| Scorpion sting | paralysis, hypertension, pancreatitis
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| Crotaline bite | rattlesnakes, water moccasin, copperhead; DIC; serum sickness
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| Coral snake bite | neurotoxin; binds to presynaptic nerve terminals and acetylcholine receptors
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| Contact gunshot wound | soot + gunpowder (fouling)
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| Intermediate gunshot wound | powder tattooing
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| Distant gunshot wound | no powder tattooing; exit wound larger than entrance
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| Motor vehicle accidents | leading cause accidental death between 1-39 yrs of age
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| Burns | Pseudomonas aeruginosa sepsis MC COD
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| First degree burn | painful; complete healing
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| Second degree burn | painful; blister; complete healing
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| Third degree burn | painless; scarring
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| Frostbite | painless; ice crystallization in cells
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| Electrical injury | AC worse than DC; decreasing resistance (wet skin) increases current
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| House fires | carbon monoxide and cyanide poisoning
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| Heat exhaustion | fever and sweating
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| Heat stroke | fever and anhydrosis
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| Near drowning | survival following asphyxia due to submersion
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| Wet drowning | initial laryngospasm then relaxation and water into lungs
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| Dry drowning | intense laryngospasm without aspiration
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| Cold water drowning | shunts blood from periphery to central core
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| Drowning | hypoxemia key COD
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| Acute mountain sickness | headache MC; non-cardiogenic pulmonary edema (immediate descent)
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| High altitude | normal %O2; decreased barometric pressure; respiratory alkalosis; ↑ 2, 3 BPG
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| Ionizing radiation | DNA most susceptible protein
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| Ionizing radiation | lymphoid tissue most radiosensitive; bone least radiosensitive
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| Ionizing radiation cancers | leukemia (most common); thyroid cancer; osteogenic sarcoma
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| UVB-related cancers | basal cell carcinoma (most common); squamous cancer; melanoma
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| Carbohydrates | digestion begins in mouth
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| Fats | digestion begins in small intestine
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| Essential fatty acid deficiency | dermatitis, hair loss, poor wound healing
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| Proteins | digestion begins in stomach
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| Kwashiorkor | ↓ protein intake; ↓ visceral protein; ↓ albumin (pitting edema); fatty liver
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| Marasmus | total calorie deprivation; ↓ somatic protein; broomstick extremities
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| Anorexia nervosa | starvation; secondary amenorrhea (↓ GnRH); osteoporosis; ventricular MC COD
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| Bulimia nervosa | binging with vomiting; hypokalemic metabolic alkalosis; ventricular MC COD
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| Body mass index (BMI) | weight in kg/height in m2
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| Obesity | hypertension (MC), cholecystitis, osteoarthritis, type 2 DM, endometrial/breast cancer
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| Leptin | obesity gene product released from adipose; maintains energy balance
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| All-trans retinoic acid | Rx acute promyelocytic leukemia; matures blasts to neutrophils
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| Vitamin A | maintain visual purple, prevent squamous metaplasia, growth
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| Vitamin A deficiency | night blindness; blindness; squamous metaplasia
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| Vitamin A toxicity | ↑ intracerebral pressure; papilledema; hepatic necrosis
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| Vitamin D | maintain ionized Ca2+; mineralization of bone
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| Vitamin D metabolism | skin photoconversion or reabsorb in gut → 1st hydroxylation liver → 2nd hydroxylation proximal tubule (1-α-hydroxylase) Vitamin D deficiency
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| Causes | renal failure MCC; malabsorption; liver disease; ↓ sunlight
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| Lab | ↓ Ca2+, ↓ phosphate (malabsorption), ↑ phosphate renal failure, ↑ PTH
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| Hypervitaminosis D | ↑ Ca2+, renal stones
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| Vitamin E | prevents FR damage of cell membrane
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| Vitamin E deficiency | hemolytic anemia; posterior column/spinocerebellar tract degeneration
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| Vitamin E toxicity | ↓ synthesis vitamin K-dependent procoagulation factors; anticoagulated
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| Vitamin K | γ-carboxylates vitamin K-dependent factors
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| Vitamin K deficiency | ↓ epoxide reductase activity (↓ function vitamin K); hemorrhagic diathesis; ↑ PT
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| Warfarin | inhibits epoxide reductase
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| Causes vitamin K deficiency | antibiotics MC, newborn, malabsorption, warfarin
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| Thiamine functions | transketolase; dehydrogenase reactions (NADH for ATP synthesis)
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| Example of dehydrogenase reaction | pyruvate → acetyl CoA; pyruvate dehydrogenase
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| Thiamine deficiency | alcohol MCC; ↓ ATP synthesis
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| S/S | dry beriberi - Wernicke’s, Korsakoff’s, peripheral neuropathy; wet beriberi - cardiomyopathy
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| Niacin | oxidation-reduction reactions; NAD; NADP
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| Niacin deficiency | pellagra; dermatitis, diarrhea, dementia
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| Tryptophan | synthesis niacin, serotonin
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| Tryptophan deficiency | Hartnup’s disease (↓ reabsorption neutral amino acids); carcinoid syndrome
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| S/S niacin deficiency | diarrhea, dermatitis, dementia
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| Corn | deficient in niacin and tryptophan
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| Pyridoxine | heme synthesis, transamination, neurotransmitter synthesis
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| Cause | taking isoniazid
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| Pyridoxine (B6) deficiency | sideroblastic anemia; convulsions; peripheral neuropathy
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| Vitamin B12/folate | DNA maturation, odd chain fatty acid metabolism (propionyl CoA)
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| Vitamin B12/folate deficiency | macrocytic anemia
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| Biotin | carboxylase reactions (pyruvate → oxaloacetate)
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| Cause | eating raw eggs (avidin binds vitamin)
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| S/S | alopecia, dermatitis
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| Vitamin C | antioxidant, reduce ferric iron, hydroxylation proline/lysine, dopamine → norepinephrine
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| Vitamin C deficiency | scurvy; hemorrhagic diathesis; poor wound healing
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| Alkalotic state | lowers ionized Ca2+ producing tetany; total Ca2+ normal
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| Hypoalbuminemia | lowers total Ca2+; no tetany
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| Hypophosphatemia | decreased ATP; myoglobinuria
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| Hypomagnesemia | causes hypocalcemia by inhibiting PTH synthesis/release
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| Zinc deficiency | poor wound healing; dysgeusia (cannot taste); anosmia; perioral rash
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| Copper deficiency | iron deficiency; poor wound healing (cofactor lysyl oxidase); aortic dissection
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| Iodine deficiency | produces goiter and hypothyroidism
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| Chromium deficiency | glucose intolerance
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| Selenium | antioxidant that neutralizes peroxide
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| Fluoride deficiency | dental caries
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