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Patho PC Mod 1B

Patho for Primary Care, Module 1B

Euploid Cells that have a multiple of the normal number of chromosomes. Both diploids and haploids are euploids.
Diploids Have 46 chromosomes. 1 set of 23 form the paternal and one from the maternal side.
Haploids Only have 23 chromosomes. Gametes are Haploids are not paired. They are either maternal or paternal. Have not gone through meiosis.
* Polyploidy * When a euploid cell has more than the diploid number of chromosomes. i.e. triploidy, tetraploidy.
* Which tissues have polyploidial cells? i.e. liver, bronchial, epithelial tissues
* Triploidy (type of Polyploidy) a zygote having three copies of EACH chromosome - will be spontaneously aborted or stillborn.
* tetraploidy Euploid cells which have 92 chromosomes early arbotuses and are incompatable with posnatal survival.
* Aneuploidy Somatic cell that does not contain a multiple of 23 chromosomes.
Trisomy (type of aneuploidy) cell containing 3 copies of ONE chromosome.
Monosomy (type of aneuploidy) presence of only ONE copy of a given chromosome in a diploid cell, lethal!
Aneuploidy of sex chromosomes less serious than autosomes
Down Syndrome aneuploidy in an autosome is Trisomy 21. Formerly called mongolism seen in 1 in 800 live births. Mentally retarded with IQs usually ranging from 25 to 70. Low nasal bridge, epicanthal folds, protruding tongue, low-set flat ears. Poor muscle tone, short st
Turner syndrome (genetic makeup) presence of a single X chromosome and no homologus X or Y chromosome, total of 45 chromosomes. Karyotype is designated 45, X.
Turner syndrome (symptoms) No Y chromosome,all females, usually sterile,gonadal streaks rather than ovaries.Short stature, webbing of the neck, widely spaced nipples,coarctation of the aorta,edema of the feet in newborns,cubitusvalgus,sparse body hair.Not considered retarded,impair
Turner Syndrome (causes) Inherit the X chromosome from the mother. Caused by loss of paternal X chromosome.
Klinefelter syndrome (genetic makeup) two X chromosomes and a Y chromosome in each cell (47, XXY karyotype).
Klinefeller syndrome (symptoms) Testes are small, body hair sparse, high pitched voice, elevated stature, moderate degree of mental impairment
Klinefelter syndrome (causes) Male appearance because of Y chromosome. Sterile, female-like breasts. Caused by nondisjunction of the X chromosomes in mom
Karyotype A karyotype is an organized profile of a person's chromosomes. In a karyotype, chromosomes are arranged and numbered by size, from largest to smallest
Cri-du-Chat syndrome caused by chromosomal deletion of part of the short arm of chromosome 5. Low birth weight, severe mental retardation, microcephaly, heart defects
Genotype composition of genes at a given locus
Dominance Dominance in genetics is a relationship between alleles of a gene, in which one allele masks the expression (phenotype) of another allele at the same locus
Recessive A gene that is phenotypically expressed in the homozygous state but has its expression masked in the presence of a dominant.
Polymorphism a locus that has 2 or more alleles that occur with an appreciable frequency in a population.
Hemophilia x-linked recessive disorder that causes deficiencies in coagulation factor VIII.The mutant gene is located on the X chromosome,so it is expressed in males because males have only one X chromosome.
Can males be carriers of hemophelia? No, only females can be carriers of hemophelia.
Marfan syndrome an autosomal dominant disorder which causes multiple effects from a single gene.Only one copy of the mutant gene is needed.Males and females are affected.Family history will reveal the disorder in a relative in the previous generation or increased paterna
Is father to son transmission possible with Marfan syndrome? yes
Cri-du-Chat chromosomal abnormality where there is deletion of part of the short arm of chromosome 5.The newborn will have a catlike cry,severe mental and growth retardation,respiratory and feeding problems.Many live to adulthood.The deleted chromosome is of paternal
Cytochrome P-450 Cytochrome P-450
polymorphism genetic variation when 2 or more alleles are maintained in a population
CYP2D6 CYP enzyme first identified in the oxidation of an antihypertensive called Declinax.
CYP gene Enzymes produced from the cytochrome P450 genes are involved in the formation (synthesis) and breakdown (metabolism) of various molecules and chemical
Which drugs has the CYP gene increased the sensitivity in Chinese people for? Warfarin, Haloperidol, desipramine
What is the recurrence risk when one parent is affected by an autosomal dominant disease and the other is unaffected? When one parent is affected by an autosomal dominant disease (and is a heterozygote) and the other is normal, the recurrence risks for each child are one half
List the criteria for autosomal recessive inheritance. 1.Males&Females affected equally. 2.Consanguinity often present. 3.Ds seen in siblings,often not in parents. 4.avg,1/4 of 2 carrier parents' offspring will be affected.
x-linked recessive boys will be affected or normal. They cannot be carriers b/c they only have one X.
autosomal recessive a pattern of inheritance resulting from the transmission of a recessive allele on an autosome. Males and females are usually affected with equal frequency.
If both parents are heterozygous, what is the chance their children will express the trait of the recessive allele? 25%
If both parents are homozygous recessive (aa), what are the chances of the offspring expressing the recessive trait? 100%
If one parent is homozygous recessive and the other is homozygous dominant (AA),what are the chances of the offspring expressing the trait? None of the chidren will express the trait, but all will be carriers.
FYI about autosomal recessive There may be no family history of the trait; it becomes manifest when two carriers have a child who is homozygous recessive.
Examples of autosomal recessive disease cystic fibrosis, PKU, galactosemia
Examples of x-linked recessive diseases Hemophelia
Penetrance percentage of individuals with a specific genotype who also exhibit the expected phenotype
Incomplete penetrance individuals who have the gene for a disease may not exhibit the disease phenotype at all, even though the gene and the associated disease may be transmitted to the next generation.
Expressivity the variability with which basic patterns of inheritance are modified,both in degree and in variety,by the effect of a given gene in people of the same genotype.For example,polydactyly may be expressed as extra toes in 1 generation and extra fingers n ano
Example of gene imprinting deletion of part of the long arm of chromosome 15 when inherited from the father causes Prader-Willi syndrome (short stature, obesity, hypogonadism)When the same deletion is inherited from the mother,Angelman Syndrome is inherited.
Example of gene imprinting IGF-II normally methylated maternally.If not,and there are 2 active IGF-II copies,Beckwith-Wiedmann Syndrome occurs.
Autosomal dominant Dominant gene overpowers recessive in all situations. Aa,AA=affected, aa=not affected
If both parents have a dominant gene (Aa)what chance do their offspring have of inheriting the disorder? 75%
2. A couple is contemplating a pregnancy and the male is known to have an autosomal recessive gene but does not have the disease. If his wife does not have a similar gene, what are the odds that this planned offspring will have the disease? 50%
What are the steps of the General Adaptation Syndrome? 1. Alarm Stage 2. Stage of resistance or adaptation 3. Stage of exhaustion
Alarm Stage (1st stage of Adaptation Syndrome) Stressor stimulates limbic syst & hypothalamus.Limbic stimulates SNS.Hypothalmus stimulates pituitary.SNS stimulates Epi& Norepi to be release from the adrenal medulla.Epi and Norepi are catecholamines.Norepi causes goose bumps & increase sweat glands, co
Stage of resistance/adaptation (2nd stage of General Adaptation Syndrome) During this phase,if the stress continues,the body adapts to the stressors it is exposed to.Changes take place to reduce the effect of the stressor.For example,if the stressor is starvation,the person might experienced a reduced desire for physical activi
Stage of exhaustion (3rd stage of General Adaptation syndrome) Generally, this means the immune system, and the body's ability to resist disease, may be almost totally eliminated. Patients who experience long-term stress may succumb to heart attacks or severe infection due to their reduced immunity. For example, a pe
Conditional response specific stimuli are associated with danger, anticipation of subsequent encounters with the stimulus produces a physiologic stress response. PTSD in response to the memory as opposed to the anticipation of traumatic events, characterized by flashback mem
Learned responses under fine control by brain regions located in the limbic system (hippocampus, amygdala, prefrontal cortex) Paraventricular nucleus (PVN) of the hypothalamus must be stimulated
Stressors include infection, noise, decreased O2 supply, pain, malnutrition, heat, cold, trauma, prolonged exertion, radiation, responses to life events, obesity, old age, drugs, disease, surgery and medical treatment.
Anticpatory response: rather than reacting to an obvious stressor, the body mounts a physiologic stress response in anticipation of disruption of the optimal steady-state (homeostasis). Generated by species-specific innate programs (reacting to the presence of predators and un
Adrenal Medulla: in response to stress, the chromaffin cells of the adrenal medulla produce large quantities of epinephrine and small amounts of norepinephrine. They bound to the plasma protein albumin.
Stressors commonly associated with catecholamine released by the adrenal medulla include exercise, thermal changes, acute emotional states.
Epinephrine metabolized quickly, short acting, binds to and activates both a and B adregnergic receptors. Greater influence on cardiac action, metabolic regulation. Enhances myocardial contractility, increases heart rate, increases venous return to the heart -> incre
Norepinephrine binds primarily to aadrengeric receptors, regulates blood pressure by constricting smooth muscle in all blood vessels, dilates the pupils of the eye, causes piloerection, increases sweat gland in the armpits and palms. Reduces gastric secretion in GI trac

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