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7-Congenital/Genetic
Pathophysiology
| Question | Answer |
|---|---|
| Genetic information for each cell is stored on | chromosomes |
| Chromosomes | 23 pairs in each human cell |
| Autosomes | 22 pairs in each human cell |
| Autosomes are numbered when arranged by size et shape in a diagnostic graphic | karyotype |
| 23rd pair | consists of a pair of sex chromosomes (XY or XX) |
| Sperm et ovum receive only 23 chromosomes (one chromosome from each pair) | meiosis |
| Considered a unique identifying characteristic for an individual | DNA |
| Chromosomes are made up of many genes et are matched for a function at a specific location on the paired chromosome | allele |
| DNA "file" that contains info about protein synthesis in the cell | gene |
| All cells in an indvidual's body contain the same ________ et ________ for the same traits although not all genes are active in each cell. | chromosomes/genes (genotype) |
| Limited activity, related to the cell's specific function | gene expression |
| Genes are composed of ______ _______ which dtermine the function of all cells in the body. | DNA strands |
| Provides the communication link with DNA during the actuall synthesis of proteins andhelps to maintain control of cell activity | RNA |
| Chromosomes replicate et each daughter cell receives a copy of DNA identical to that in the parent cell (occurs during embryonic et fetal development) | mitosis |
| Some DNA sequences act as _____ for gene activity, whereas other sequences have unknown functions et have been termed "_____ ____." | regulators/junk DNA |
| Repeats of base pairs in junk DNA | identified as abnormalities leading to disease |
| Changes can occur because of an error in _____ or ______, but are rare. | meiosis or mitosis |
| alteration in genetic material may be spontaneous of may result from exposure to harmful substances such as radiation, chemicals or drugs | mutation |
| HGP | Human Genome Project |
| Disorders prsent at birth | congenital anomalies |
| congenital anomalies | include genetic of inherited disorders as well as developmental disorders |
| may result from a single-gene trait or from a chromosomal defect, o they may be multifactorial | genetic disorder |
| caused by a change in one gene within the repoductive cells (ove or sperm) | single-gene disorders |
| Mutant gene is transimitted to the subsequent generations following the specific ________ _________ for that gene | inheritance pattern |
| Mutations in the body cells other than the repoductive cells may cause ________ but are not _______ to offspring | dysfunction/transmitted |
| Effect of an altered gene | expression or phenotype |
| result from an error during meiosis, when the DNA fragments are displaced or lost, thus altering genetic info (Down Syndrome) | Chromosomal anomalies |
| during meiosis, genes are often redistributed in which chromosomes may swap portions | crossover |
| may be an error in chromosomal duplication or reassembly resulting in an abnormal placement of part of the chromosome | translocation |
| altered structure of the chromosome | deletion |
| Premature birth | congenital or developmental disorders can occur |
| difficult labor et delivery | congential or developmental disorders can occur |
| exposure to damaging agent during fetal development | congential or developmental disorders can occur |
| may be spontaneous errors or may result form exposure to environmental factors in utero | developmental defects |
| DNA of embryonic cells may be altered easily et differentiation take place during the first months of embryonic development | rapid mitosis |
| Replication of DNA | occurs during the first month and the possibilty of damage during this period is significant |
| maternal nutrition | may affect developing embryo's genetic makeup |
| Teratogenic agent | agents that cause damage during embyronic or fetal development |
| caused by multiple genes | polygenic |
| both parents must pass on defective gene to produce an affected child | autosomal recessive disorder |
| Male and female are affected equally | autosomal recessive disorder |
| one normal gene et one disease gene | heterozygous |
| two disease genes | homozygous |
| Carrier | heterozygous individual, that shows no clinical sign of disease |
| Heterozygous Parents= | 25% unaffected genotype 50% born with the carrier genotype 25% born with the affected or disease genotype |
| Only one parent w/ recessive gene | 50% born with carrier genotype 50% having unaffected genotype |
| toxic metabolites accumulate inside cells or in the blood and tissues, interfering with cell function and possibly causing cell death | enzyme defect |
| incomplete dominant | heterozygotes may display some clinical signs whereas homozygotes show the full range of expression |
| presence of the defect in only one of the alleles produces clinical expression of the disease | autosomal dominant disorders |
| Affected parent in re: to autosomal dominant | 50% chance of passing the disorder on to each child regardless of the gender of the child |
| No carriers et unaffected persons do not transmit the disorder | autosomal dominant disorder |
| most common cause of mental retardation, cognitive deficit et learning disorders in North America | Fragile X syndrome |
| Mutation responsible for _____________ is inherited as a dominant allele carried on the ___________ chromosome | fragile X syndrome/X |
| Alleles for the sex-linked recessive disorders are usually carried by the ___ chromosome | X |
| genes are recessive but are manifested in heterozygous males who lack the matching normal gene on the Y chromosome | X-linked disorders |
| Females are carriers (without clinical signs) when they are heterozygous | x-linked disorders |
| X-linked carrier females | 50% chance of producing an affected male child and an equal chance of producing a carrier female chiled in each pregnancy |
| X-linked affected male | WILL transmit the defect to all of his daughters, who will then become carriers; sons will neither be affected nor be carriers. |
| Males pass only the normal ____ chromosome to his sons | Y |
| Three chromosomes rahter than two in the 21 position | trisomy 21 or down syndrome |
| only one sex chromosome, the X chromosome, is present | monosomy X or turner syndrome |
| extra X chromosome is present (XXY) | polysomy X or Klinefelter |
| invloves a number of genes or genetic influences combined with environmental factors | multifactorial disorders |
| developmental abnormality | anomaly |
| extraction of amniotic fluid from the uterus et extraction of a sample of the chorionic villus of the fetus | amniocentesis |
| can be tested approximately 48 hours after birth using blood from a heel prick | neonates |
| laboratory practices of manipulating genes in microorganisms, plants, animals and humans; genes may be altered by changing the sequence of DNA by rearrangement, deletion or substitution | genetic engineering |
| ultimate goal is to remove a defective gene and supply a normal one so as to eliminate genetic defects | gene manipulation |
| involves the introduction of normal genes into living target cells. sometimes by means of a harmless virus or bacterium, thus changing the cell activity or replacing missing genes | gene therapy |
| SCID | severe combined immunodeficiency disease |
| stives to characterize all of the proteins that are significant in the metabolic pathway for expression of a particular allele | proteomics |
| drugs developed for your own specific metabolic pathway, individual genotypes | designer drugs |
| conditions that are present in an individual at birth but are not necessarily manifested until later in life | congenital disorders |
| inherited genetic disorders and developmental defects resulting from damage to the child in utero or at birth | congenital disorders |
| consequences of changes in the genes that make up the 23 pairs of chromosomes in each human cell | genetic disorders |
| DNA file that controls one or more aspects of cellular activity | gene |
| science of identifying the proteins associated with the expression of a particular gene so as to design drugs to replace absent proteins or inhibit damaging proteins | proteomics |
| common patterns of inheritance of single gene disorders are classified as: | recessive or X-linked recessive, dominant or X-linked dominant |
| Probability of inheritance can be prediced using this; same probability exists with each pregnancy | Punnett square |
| involve an abnormal distribution of the chromosomes or dislocation of a part or loss of a chromosome | chromosomal disorders |
| demonstrates the arrangement of the chromosomes from an individual's cell | karyotype |
| caused by damage to one or more body structures during embryonic or fetal development, during labor and delivery, or shortly after birth | developmental disorders |
| most vulnerable period is the embryonic stage during this: | organogenesis |
| result from a combination of genetic predisposition and exposure to certain environmental factors | multifactorial disorders |
| available for carriers of specific genetic disorders | screening programs |
| may detect certain developmental defects in the fetus | ultrasonography et aminocentesis |
| assists in determining the risk of such and occurrence, justifying the testing procedure and genetic counseling | family pedigree |
| sample of a disorder affecting many body components | down syndrome |
| found in most systems and include physical appearnace, skeletal structure et intellectual development | abnormalities of down syndrome |
| T/F DNA is the template for its own replication in re: to central dogma of biology | True |
| T/F DNA is the template for the transcription of RNA (central dogma) | True |
| T/F RNA can be used by some viruses to make DNA by reverse transcription (central dogma) | True (some viruses can do transcription) |
| T/F RNA is the template for the sunthesis of protein (central dogma) | True |
| T/F DNA is the direct template for the translation of proteins (central dogma) | False |
| Spontaneous mutations in DNA... | occur during the normal replication process can sometimes lead to changes in portein structure and function can be either somatic or germ like mutations |
| mRNA is transcribed from the _______ strand of the DNA and has the same sequence as the _______ strand. | template, non-template |
| Central dogma | DNA--->Tc-->RNA--->Tl-->Protein |
| Proteins are made in the cytoplasm by | ribsomes |
| one feature of the genetic code is that it is ________. The units of meaning are called _______. | triplet, codon |
| Proteins come in many different shapes and sizes. The function of each protein aligns with its structure. The first level of protein structure is... | the chain of amino acids |
| The second level of protein folding is often either an alpha-helix or a beta-pleated sheet. These structures are formed by ________ bonds. | hydrogen |
| When two or more polypeptides must be joined together to form an active protein, this is called _________ structure. | quaternary |
| The rate of live human births with genetic disorders is between... | 1 et 3 percent |
| A_________is the arrangement of human chromosomes from largest to smallest. | Karyotype |
| Diseases that display an autosomal recessive phenotype | are common when marriages are consanguineous |
| the link between a mutation in the DNA in the gene for hemoglobin et the development of the disease sickle cell anemia | 1. mutation in DNA 2. small change in DNA 3. change in amino acids 4. folds incorrectly 5. functions improperly |
| A 40 year old man with coronary artery disease (CAD) asks the doctor why he would develp heart disease at such a young age. In addition to his history of smoking (he started at age 16). May also have inherited the risk for coronary disase from a parent. | This patient has a multifactorial inherited disease caused by both genetic et environmental factors |
| What percent of live human births have medical disorders/"congenital disorders"? | 5% |
| Stores DNA info | nucleus |
| the set of genes carried by an individual | genome |
| the fundamental physical unit of heredity; a piece of DNA that allows the transcription of an RNA molecule | gene |
| the form of the gene | allele |
| the specific genetic consititution of an organism; what set of alleles are present in an individual | genotype |
| the expression of the genoype | phenotype |
| a DNA molecule packaged in protein; genes are on these | chromosome |
| the absence of health | disease |
| genes present in the egg or the sperm or both are mutated so that every cell in the body of the offspring have the mutated allele forms | heritable condition |
| once ell of the organism incurred a mutation (or several mutations) due to spontaneous replication errors or exposure to mutagens; this cell then replicates without control forming a tumor | non-heritable condition |
| heritable et non-heritable conditions | genetic disease |
| a region of DNA that contains info for synthesis of a protein | gene |
| two different alleles | heterozygous |
| two like alleles | homozygous |
| 23 pairs of chromosomes | human genome |
| important for chorionic/amniotic fetus | karyotype analysis |
| 22 pairs | autosomes |
| extra chromsome on #21 | down syndrome |
| homogenetic sex | female (XX) |
| heterogenetic sex | male (XY) |
| diploid/2n | spermatogonium/oogonium (46 chromosomes) |
| divides to create sperm et eggs | meiosis (which makes them haploid) |
| sperm et eggs combine to form... | a zygote/2n |
| complementary base pairs | A=T et G=C |
| order of bases changed due to enzyme malfunction | mutation |
| randomly happens | spontaneous |
| environment that induces mutations at a higher rate | induced |
| RNA copy is _____ stranded | single |
| beginning point | promoter |
| stopping point | terminator |
| during transcription base A is converted to ____ | U |
| used to make proteins | RNA |
| strands of amino acids | proteins |
| catalyze chemical reaction | enzymes |
| transport oxygen | hemoglobin |
| attach to cancer cells et aid immune system | immunoglobulins IgG |
| provide protection | keratin |
| four bases allow us to encode for _____ different amino acids | 20 |
| first level of protein folding | secondary stucture |
| protein become globular | tertiary structure |
| more than one polypeptide together | quaternary structure |
| can be completely silent et positive | mutations |
| gene for __________ is on an a autosome not X or Y | hemoglobin |
| long chain of protein distorts shape of cell; causing capillaries to break which leads to hemorrhaging causing O2 not t be delivered to brain/muscles | sickle cell anemia |
| many affects | pieiotopism |
| color vision is located on what chromosome? | X |
| do not go from father to son (it will only be passed on to daughters) | x-linked genes |
| turn off an X in every cell | lyonization |
| when the X chromosome is turned off | barbodies |
| relation mating (common ancestors) | consangunity |
| classic sign of recessive trait is when a ___________ skipped | generation |
| can be random | expressivity |
| drugs can induce_______ | expressivity |
| dominance can be ______ (inherit gene but do not show it) | impenetrant |
| example of Codominance | AB bloodtype |
| small change in DNA-->change in AA inserted into protein-->protein folds incorrectly-->functions improperly-->disease | point mutations |
| top four multifactorial diseases | lung, breast, prostate et colon cancer |
| a genetic disease characterized by the interplay of oncogenes et tumor suppressor genes leading to the uncontrolled growth of cells | cancer |
| stimulate cancer | 6 to ten genetic changes/cell |
| increased risk for cancer than those with normal genes | predisposed |
| polyps, warts, dysplasia | pre-cancerious |
| genes that can cause the development of cancer; when mutated they cause cancer | oncogene |
| study of cancer | oncology |
| cABL | codes for protein kinase, important for mitosis to occur |
| oncogenes are _________ dominant | autosomal |
| ________ of oncogenes causes hyperactivity which creates large amounts of cells | mutation |
| these genes turn mitosis "off" | tumor suppressor genes |
| tumor suppressor genes are _________recessive | autosomal |
| predisposed=chromosome deletion | ;) |
| code for genes that will deregulate the growth of the cells that they infect et therefore potentiate cancer | viruses |
| using molecular information to lessen side effects/drugs for individuals;personaling meds | pharmacogenomics |
| study of how a person's genetic inheritance affects the body's response to drugs. Uses DNA and AA sequencing to create new drugs that work at molecular level to preven/treat disease | pharmacogenomics |
| absent of greatly reduce ability to clear or activate drug | poor metabolizer PM |
| heterozygotes for both normal and reduced activity genes | intermediate metabolizer IM |
| the norm | extensive metabolizer EM |
| greatly increased activity that accelerates clearance of increases activation | rapid metabolizer RM/UM |
| added to standard breast cancer treatment to improve prognosis et reduces risks of recurrence | herceptin |
| What percent have a congenital disorder that is genetic? | 5% |
| Store DNA info | Nucleus |
| a region of DNA that contains info for synthesis of a protein | Gene |
| two different forms located in the same place | allele |
| what exactly do you have, form-wise, to your genetic makeup? | genotype |
| is important for chorionic/amniotic fetus | karyotype analysis |
| homogenetic sex | XX female |
| heterogenetic sex | XY male |
| 2n- spermatogonium/oogonium | diploid |
| divides to create sperm et eggs (haploid) | meiosis |
| zygote, DNA expressed different in different cells->transcription->RNA, copy of DNA->translation->protein, expression information et do work of the cell | central dogma |
| copy of NA (RNA) is the ____________ of protein | synthesis |
| A-T et C-G | complementary base pairs |
| order of bases changed due to enzyme malfunction which can be sspontaneous or induced | mutation |
| just randomy happens | spontaneous |
| environment that induces mutation at a higer rate | induced |
| somatic mutations are not ________ | genetic |
| examples of germ line/genetic mutations | sickle cell anemia, retinal blastoma |
| DNA is its __________ for its own _________ | template, synthesis |
| RNA copy is ________ stranded | single |
| beginning point during transcription | promoter |
| stopping point during transcription | terminator |
| during transcription, adenine is converted to what? | uracil |
| enzymes are ___________ | proteins |
| RNA is used to make ________, which are strands of _________ __________ | proteins, amino acids |
| these catalyze chemical reactions | enzymes |
| example of enzymes | kinase, amylase, ligase |
| enzyme in saliva, breaksdown starch | amylase |
| enzyme that allows 2 pieces of DNA to attach to one another | ligase |
| transport oxygen in body | Hemoglobin |
| attach to cancer cells et aid immune system | Immunoglobulins (IgG) |
| body uses as protection | keratin |
| how many genes work together to make 100,000 different proteins? | 25,000 different genes |
| 4 complementary bases allows us to encode for _____ different amino acids | 20 |
| these can go in any order et can be as long as we want | amino acids |
| first level of folding of a protein structure | secondary structure |
| protein structure becomes globular | tertiary structure |
| more than one polypeptide together in protein structure | quarternary structure |
| stand of amindo acid in protein structure | primary structure |
| alpha helix, beta folds | secondary structure |
| HbA/pos #6->amino acid is glutamic acid (hydrophillic)->mutation from G to A->amino acid valine (hydrophobic)->changes of folding pattern of hemoglobin->causes......... | sickle cell anemia |
| these can be completely silent et can be positive | mutations |
| needs to have 2 recessive alleles | autosomal recessive |
| gene for ______ is on an autosome, not on the X or Y | hemoglobin |
| no functional Hg=what disease? | Sickle cell anemia |
| long chain of protein distorts shape of cel, causing capillaries to break which leads to hemorrhaging causing oxygen no to be delivered to brain muscles | sickle cell anemia |
| terminology for many affects in genetics | pieotropism |
| Huntingtons, ALS, dwarfism, polydactly, retinoblastoma, BRCA1 et BRCA2 | autsomal dominant biochemistry |
| cystic fibrosis (CF), sickle cell, tay-sachs, PKU | autosomal recessive biochemistry |
| mutated form will dominate over the normal | autsomal recessive |
| athlete who had ALS | Lou Gouehrig |
| with ALS, protein prevents damage to _________ (super oxide) | DNA |
| percent of sporadic form of ALS | 90% |
| percent of familial form of ALS | 10% |
| defect in the gene that encodes superoxide dismutase 1 | ALS |
| SOD1 | superoxide dismutase 1 |
| if this becomes weaker, it causes gray hair | superoxide |
| Used interchangeable with phenotype | characteristcs |
| every organism has ___ copies | 2 |
| color vision is located on __ chromosome | X |
| these genes do not go from father to son (It will only be passed to daughters) | X-linked |
| dosage compensation helps turn off an X in evry cell | lyonization |
| when the X chromosome is truned off | barr body |
| Do females really need both X's? | Yes et No. Yes, due to Turner Syndrome. No, because we can turn one off for the most part. |
| Hemphillia, Duchenne's Muscular Dystrophy, red-green color blindness | X-linked characteristics |
| clotting factor 8 problem | hemophillia |
| protein dystrophen | Duchenne's muscular dystrophy |
| a tool for human disease study | pedigree analysis |
| Medication medthod for discovering disease in genes infamilies | pedigree analysis |
| controlled matings not possible, long generation times, et small family sz | pedigree analysis |
| extended family tree based on a single genetic characteristic (or occasional several genetic characteristics) | pedigree |
| White box, not filled in on pedigree | unaffected person |
| colored in box on pedigree | person affected with trait |
| white box, with dot in center on pedigree | obligate carrier (carries the gene by does not have the trait) |
| white box, with a number in the middle on pedigree | multiple persons affected |
| white box with diagonal line through it on pedigree | deceased person |
| small dot or triangle on pedigree | miscarriage |
| First came into clincial diagnosis | proband |
| white box with question mark in the center on pedigree | adoption |
| relation mating or common ancestors in pedigree | consanguinity |
| Classic sign of ________ trait is that a generation is skipped | recessive |
| these can show/express recessive traits | consanguinious |
| sometimes ________ traits can be affected by environment but not be soon | dominant |
| these can be random on genese | expressivity |
| these can induce expressivity | drugs |
| can be impenetrant, you can inherit gene but do not show it | dominance |
| if a characteristic is passed from father to son | Y-linked characteristic |
| this can be incomplete, carriers can have symptoms but not genetically diagnosed | dominance |
| example of codominance | AB bloodtype |
| sm chg in DNA->chg in AA inserted into protein->protein folds incorrectly->functions improperly->disease | Genetic disease |
| down syndrome (trisomy 21), edward syndrome (trisomy 18), patau sydrome (trisomy 13), XO, Turner Syndrome, XXY kleinfelter syndrome, | whole chromosomal changes |
| autosomeal recessive (CF, sickle cell anemia), huntington disease (autosomal dominant), et X-linked | point mutations on chromosome |
| cri du Chat | part of chromosomes |
| the set of genes carried by an individual | genome |
| the fundamental physical unit of heredity, a piece of DNA that allows the transcription of an RNA molecule | gene |
| the form of the gene, for example you could have an allele for tongue rolling of one that does not allow this function | allele |
| the specific geneitc constitution of an organmism, what set of alleles are present in an individual | phenotype |
| a DNA molecule packaged in protein, genes are on chromosomes | chromosome |
| the absence of health | disease |
| genese present in the egg or the sperm or both are mutated so that every cell in the body of the offspring have the mutated allele forms | heritable condition (CF or sickle cell anemia) |
| on cell of the organism incurred a mutation or several mutations, due to spontaneous replication errors or exposure to mutagens (UV light or asbestos): this cell then replicates without control forming a tumor | non-heritable condition (cancer) |
| DNA is the template for its own replication, DNA is template for the transcription of RNA, RNA can be used by some viruses to make DNA by reverse transcription, et RNA is the template for the synthesis of protein | true about the central dogma |
| DNA is the direct template for the translation of protein | false about the central dogma |
| occur during the normal replication process, can sometimes lead to changeds in protein structure et function, can be either somatic or germ line mutations | all are spontaneous mutations in DNA |
| mRNA is transcribed from the ________ strand of the DNA et has the same sequence as the ____________ strand | template, non-template |
| 3' | used to make RNA template |
| 5' | non-template created from mRNA |
| proteins are made in the cytoplasm of cells by.... | ribsomes |
| these translate proteins | ribsomes |
| one feature of the genetic code is that it is________; the units of meaning are called ______ | triplet, codon |
| proteins come in many different shapes et sizes; the function of each prtein aligns with its structure; the first level of protein structure is: | the chain of amino acids |
| the second level of protein folding is often either an alpha-helix or beta-pleated sheet; these structures are formed by _______ bonds | hydrogen |
| when two or more polypeptides must be joined together to form an active protein, this is called ____________ stucture | quarternary |
| short essay to show the link between a mutation in the DNA in the gene for Hg et the development of the disease sickel cell ademia | 1. mutations in DNA 2. small change in DNA 3. change in AA 4. folds incorrectly 5. functions improperly |
| the rate of live human births with genetic disorders is between; | 1 to 3 percent |
| a ________ is the arrangement of human chromosomes from largest to smallest | karyotype |
| diseases that display an autosomal recessive phenotype | are common when marriages are consanguineous |
| show up in half of the offspring in a family | dominant=1/2, every generation |
| 1/4 et skips a generation | recessive |
| second leading cause of mental retardation | fragile-x syndrome |
| relatively constant or stable internal environment is maintained witin the body with regard to BP, body temperature et fluid balance | homeostasis |
| disease develops when sifnifican changes occur in the body leading to a state in which homeostasis cannot be maintained without intervention | need to understand homeostasis because pahto studies the physiologic changes in the body that result from the disease process |
| decrease in the size of cells, resulting in a reduced tissed mass | atrophy |
| increase in the size of individual cells, resulting in an enlarged tissue mass | hypertrophy |
| increased number of cells resulting in an enlarged tissue mass | hyperplasia |
| occurs when one mature cell type is replaced by a different mature cell type | metaplasia |
| term applied to tissue in which the cells vary in size et shape, lg. nuclei are present et the rate of mitosis is increased | dysplasia |
| cells that are undifferentiated with variable nuclear et cell stuctures et numerous miotic figures (characteristic of cancer) | anaplasia |
| "new growth" usually called a tumor, malignant are referred to a as cancers; benign tumors do not always become malignant | neoplasm |
| porgrammed cell death | apoptosis |
| deficit of oxygen in the cells, due to respiratory problems or circulatory obstruction | ischemia |
| reduced oxygen in the tissue | hypoxia |
| occurs when there is an absence of oxygen, causing a decrease of ph et further metabolic impairment | anaerobic metabolism |
| ischemia, physical agents, mechanical damage, chemical toxins, micro-organisms, abnormal metabolites, nurtitional deficits, imbalance of fluids | the 8 most common causes of cell injury |
| excessive heat or cold, or radiation exposure in cell injury | physical agents |
| deficit of oxygen to cells, due to respiratory problems or circulatory obstruction | ischemia |
| pressure or tearing of tissue in cell injury | mechanical damage |
| bacteria, virus et parasites in cell injury | micro-organisms |
| accumulate in cells causing cell injury | abnormal metabolites |
| When the most common cause of cellular injury occurs what is the manifestation seen with the cell? | Ischemia which is reduced blood supply to the tissue which results in insufficient oxygen et reduced cellular metabolism. Decreased oxygen in the tissue may occur locally because of a blocked artery or systemically because of respiratory impairment; |
| describe first inital cell damage stage | cell damage causes an alteration in a metabolic reaction, which leads to loss of function of the cell. If the factor causing the damage is removed quickly, the cell may be able to be recovered |
| describve second cell damage stage after increased damage continues | as damage increases, detectable morphologic changes occur in the nucleus et teh cell as well; generally swelling et rupture occur et damage occurs et cell dies |
| term used when a group of cells die | necrosis |
| liquification, coagulative, fate, caseous | 4 types of necrosis |
| process where dead cells liquefy under the influence of certain cell enzymes | liquifacation |
| cell proteins are altered or denatured et cell retains some form for a time after death | coagulative |
| fatty tissue is broken down into fatty acids in the presence of infection or certain enzymes | fat |
| form of coagulation necrosis, a thick, yellowish cheesy substance forms | caseous |
| excision of very small amts of living tissue | biopsy |
| examination after death | autopsy |
| identification of a specific disease through evaluation of signs et symptoms, lab tests, or other tools | diagnosis |
| concerns the causative factors in a particular disease, there may be one or several causative factors (congenital defects, inherited or genetic disorders, viruses or bacteria, immunologic dysfunction, metabolic derangements, degenerative chgs, malignancy | etiology |
| the cause of the disease is uknown | idiopathic |
| a treatement, a procedure or an error may cause a disease | iatrogenic |
| encompass the tendencies that promote development of a disease in an individual. Indicates a high risk for the disease but not certain development (age, gender, inherited, factors, occupational, exposure, or certain dietary practices) | predisposing factors |
| disease is closely linked to etiology et predisposing factors for a specific disease (vaccines, dietary or lifestyle changes, cessation of potentially harmful activities such as smoking et removal of harmful materials in the environment) | prevention |
| the development of the disease of the sequence of events involved in the tissue changes related to the specific disease process | pathogenesis |
| sudden obvious disease, indicates a short term illness that develops very quickly with marked signs such as high fever or severe pain (acute apendicitis) | acute |
| gradual progression with mild or vague signs | insiduous |
| the disease is often a milder condition developing gradually but persists for a long time et usually cause more pertinent tissue damage, marked my intermittent acute episodes (R.A) | chronic |
| state exists in some conditions in which pahologic changes occur but not obvious manifestations are exhibited by the patient, perhaps because of the great reserve capacity of some organs (kidney failure) | subclinical |
| "silent" stage, no clinical signs are eveident, characterizes some disease | latent |
| period occurs in some diseases, the time between exposure to the micro-organism et the onset of signs or symptoms (day to weeks) | incubation |
| period is the time in the early development of a disease when one is aware of a change in the body, but the signs are nonspecific (lab tests are negative) | prodromal |
| the clincial evidence of effects, the signs et symptoms of disease | manifestation |
| found at the site of the problem | local |
| general indicators of illness (fever) | systemic |
| objective indicators of disease that are obvious to someone other than the affected individual (fever or rash) | signs |
| subjective feelings, such as pain or nausea | symptoms |
| a specific local change in the tissue (microscopic or highly visible) | lesion |
| collection of signs et symptoms occurring together in response to a certain condition | syndrome |
| are lab tests that assist in the diagnosis of a specific disease | diagnostic tests |
| may mark the course of disase, the manifestations of the disease subside | remission |
| may mark the course of disease, the signs increase during manifestations | exacerbation |
| factor is a condition that triggers an acute episode (seizure) | precipitating |
| new secondary or additional problems that arise after the original disease begins | complications |
| therapeutic interventions are treatment measures used to promote recovery or slow the progress of a disease | therapy |
| describe the potential unwanted outcomes of the primary condition | sequelae |
| period of revoery et return to the normal, healthy state, it may last for several days or months | convalescence or rehabilitation |
| defines the probability or likelihood for recovery or other outcomes | prognosis |
| the disease rates witin a group, used to indicate functional impairment | morbidity |
| the relative number of deaths resulting from a particular disease | mortality |
| science of tracking the pattern or occurrence of disase | epidemiology |
| a higher than expected number of cases of an infectious disease within a given area | epidemics |
| include high number of cases in many regions of the globe | pandemics |
| disease is tracked by recording 2 factors, the incidence et prevalence | occurrence |
| indicates the number of new cases in a given population noted within a stated time period | prevalence |
| diseases are infections that can be spread from one person to another | communicable |
| diseases the physican is designated to report to authorities (AIDS, SARS, HIV) | notifiable or reportable |
| performed after death to determine cause of death, or determine course of the illness et effectiveness of treatment | autopsy |
| having 2 identical alleles at corresponding points on a chromosome pair | homozygous |
| having 2 different alleles ar corresponding points on a chromosome pair | heterozygous |
| inherited diseases, single gene variation, dominant disorder, if you have dominant allele you have disease, no carrier state, does not skip generation, delayed age of onset, variable expression | Mendeliam traits/disorders |
| People who have same mutated gene show ________ symptoms | different |
| genotype+phenotype present, genotype+phenotype absent | penetrance |
| must have homozygous pair for trait/disease, hase deisease state (25%)/carriers (50%)/no disease (25%), skips generations, higher with imbreeding | recessive diseases |
| generally on X chromosome et is recessive, female carriers et affected males, 50% of carrier's son will have disease et 50% of daughters will be carriers | sex linked inheritance |
| high fat, low fiber diet | colon cancer |
| obesity, dietary sugar | type 2 diabetes |
| high fat intake, minimal exercise | coronary heart disease |
| smoking, elevated cholesterol | hypertension, stroke |
| social, environmental | alcoholism |
| high fat intake, alcohol consumption | non BRCA 1 or 2 in female breast cancer |
| accidental death of cells by swelling or rupture | necrosis |
| severe ischemia/hypoxia | coagulative necrosis |
| ischemic injury > tissue soft et liquefied > walled off rom healthy tissue > accumulation of cysts et pus | liquefactive necrosis |
| coagulative et liquefactive combination; tissue appears soft, granular, et resemble clumped cheese | caseous necrosis |
| necrotic tissue appears opaque ete chalky; combining of Ca+, Mg+, Na+ to make soaps | fat necrosis |
| hypoxia > bacterial invasion > massive necrosis et putrefaction > death of tissue et possibly person | gangrenous necrosis |
| active process of cellular self-destruction | apoptosis |
| involve a number of genes or genetic influences combined with environmental factors (cleft palat, congenital hip dislocation, congenital heart disease);necessary, can't have unless it is inherited; sufficient, you get the gene, you have it | multifactorial inheritance |
| turn mitosis "off"-autosomal recessive; genes that are normally involved in regulating the cell cycle (mitosis) et preventing growth at inappropriate times | tumor supressor genes |
| genes that can cause the development of cancer when mutated; genes that are involved in the normal cell cycle (mitosis) but are in some way mutated or unregulated in cancer | oncogenes |
| mutation of these genes cause hyperactivity which reates large amts of cells | oncogenes |
| can inherit a predisposition of cancer but could take 6 to 10 genetic changes to cell to stimulate cancer (Knudson's hypothesis); | cancer is multifactorial |
| 1. germ line mutations can exist (often in a tumor supressor gene (Rb) rarely sufficient for development of cancer) 2. additional mutating occur somatically (additional mutations in tumor supressor genes, mutations in oncogenes, et chromsomal level chgs) | cancer is considered multifactorial |
| 1. Precancerous stages 2. age statistics 3. interplay of genes et carcinogens | cancer is considered multifactoriale |
| sm chg in DNA > chg in AA > inserted into protein > protein fold incorrectly > functions improperly > DISEASE | the path of mutation in DNA that leads to disease |
| study of how a person's genetic inheritance affects the body's response to drugs; uses DNA et AA sequencing to created new drugs that work at molecular level to prevent/treat disease | pharmacogenomics |
| studying the relationship between human genome, nutrition, et health; dietary interventions for responders et noriresponders (PKU testing) | nutrigenomics |
| insertion of genes into an individual's cell et biological tissues to treat disease such as cancer; mutant genes are replace with functional ones | gene therapy |
| absent or greatly reduced ability to clear or activate drug | PM-poor metabolizer |
| heterzygotes for both normal et reduced activity gene | IM-intermediate metabolizer |
| THE NORM re: drugs | EM-extensive metabolizer |
| greatly increased activity that accelerates clearance or increases activation | RM-rapid metabolizer |
| used to confirm or rule out a known or suspected genetic disorder in a symptomatic individual (DMD) | diagnostic |
| offered to asymptomatic individuals (usually adults) with a family history of a genetic disorder (FAP, autosomal dominant) | predictive |
| performed to identify individuals who have a gene mutation for a disorder inherited in an autosomal recessive or x-linked recessive manner; carriers usually do not themselves have symptoms related to gene mutation (hemophillia A) | carrier |
| performed during a pregnancy to assess health status of a fetus; offered when there is an increased risk of having a child with a genetic condition due to maternal age, family history, ethnicity or suggestive fetal ultrasound (ATR-S) | Prenatal |
| identifies individuals who have increased chance of having a specific disorder so that further testing et treatment can be started as soon as possible | newborn |
| these can be inherited because it can be recessive or dominant | x-linked inheritance |
| 1:4000 boys et 1:8000 girls have been identified with Fragile-X disorder; mutation is inherited as a dominant allele carried on the s-chromosome; thus male et females can both be affected | x-linked inheritance dominant |
| these disorders are usually carried by the x-chromosome; genes for x-linked disorders are recessive but are manifested in the heterozygous males who lack the matching normal gene on the Y chromsome; | x-linked inheritance recessive |
| females are carriers without clinical signs when they are heterozygous, carrier females have 50%, affected male have 50%. | x-linked inheritance recessive |
| affected male will transmit to daughters to make them carriers et nothing to sons (DMD et hemophilia A) | x-linked inheritance recessive disorder |
Created by:
melissaaclark
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