1 Flashcards

Question

personalized medicine

Answer 1

branch of genomics where individual genomes are genotyped and analyzed using bioinformatics tools; may eventually lead to personalized medicine, where patients can take genotype specific drugs for medical treatments.

Answer 2

the direct manipulation of an embryo/fetus genome using biotechnology

Answer 3

phenomena whereby genetically identical cells express their genes differently resulting in different phenotypes in, for example, the formation of cancer originating from cancer stem cells.

Answer 4

breakthroughs in tissue rejuvenation with stem cells, molecular repair, and organ replacement (such as artificial organs) might eventually enable humans to have indefinite lifespans through complete rejuvenation to a youthful condition

Answer 5

studies how to make robots that emulate living biological organisms/functions mechanically or chemically; to enhance the human body’s capabilities or treat malfunctions with robots capable of re-programming and adapt to different conditions, always mimicking organic functions

Answer 6

engineered replacement organs for humans that perform better than their natural counterparts. (e.g., artificial red blood cells and super-livers (via genetically engineered organs that overexpress key proteins; respirocytes, theoretical artificial red blood cells that carry oxygen 200x more efficiently than red blood cells).

Answer 7

effective use of information technology to augment human cognition using intelligence amplifying system of tools

Answer 8

the brain evolved to handle one construction of reality, yet now can overlay multiple local and remote experiences simultaneously, creating new cognitive perceptions (enhanced and produced artificially, which adapt and transform to address different kinds of stimuli for specific purposes).

Answer 9

microscopic technological structures that extract biometric information from an organism to analyze its performance and improve specific biological functions with assisted feedback

Answer 10

- organ printing - personalized medicine - prenatal gene manipulation - epigenetic therapy - anti-aging drugs - medical nanobots

Answer 11

- enhanced organs - machine-augmented cognition - biologically extended senses - bionic implants

Answer 12

Ethical Legal Social Implications

Answer 13

What "is"? AND what "ought" to be?

Answer 14

To use scientific research methods to collect data to test hypotheses, evaluate programs, or develop a theory of a phenomenon. Examples: * Do people receiving genetic test results suffer emotional distress? * Does persistence of posttest distress correlate with pretest temperament or traits?

Answer 15

To use normative research methods to determine what action (or policy or practice) is ethically justified or most appropriate. Examples: * If a study reveals an incidental finding (e.g., misattributed parentage), should an investigator reveal that finding? * If an incidental finding has health implications for other family members, should the law permit or compel a clinician to attempt to inform those family members, perhaps over the objection of the patient tested?

Answer 16

branch of philosophy that is concerned with human conduct, more specifically the behaviour of individuals in society; rational justification for our moral judgments; what is morally right or wrong, just or unjust.

Answer 17

- autonomy - non-maleficence - beneficence - justice

Answer 18

respect a person's freedom to choose what's right for them

Answer 19

do no harm

Answer 20

all choices for a patient are made with the intent to do good

Answer 21

treat and provide care fairly to all patients

Answer 22

protected all information and infrastructure - infrastructure (e.g., computers, networks) - confidential information (e.g., intellectual property, security info)

Answer 23

protects information about individuals (e.g., studen or patient records, SSNs)

Answer 24

ability of individuals to conduct activity without concern of or actual observation (e.g., websites visited, research being conducted, and related data)

Answer 25

The need for such a common framework was emphasized in 2010 when the Swedish Health and Medical Services Act (HMSA) introduced a requirement that all new health technologies of potential importance for human value and integrity should be assessed in terms of “individual as well as social ethical aspects”

Answer 26

- human value principle - need and solidarity principle - cost-effectiveness principle

Answer 27

all human beings are of equal value and have the same right independent of personal characteristics or function in society  determines primarily what factors that should not determine the priority setting (e.g., age, socioeconomic status, previous lifestyle), allows these factors to be taken into account if they affect the effectiveness of the treatment

Answer 28

resources should be distributed according to need  meaning those with the most severe conditions, and those with the lowest quality of life; this applies even if it means that everyone cannot have their needs met in part or at all

Answer 29

in choosing between different interventions, one needs to strive for a responsible relationship between cost and effects, measured in terms of improved health and quality of life  such patients with severe diseases and substantially impaired quality of life should take precedence over milder cases, even if this care involves “substantially” greater costs for a given health benefit

Answer 30

1. effects on health 2. compatibility with ethical norms 3. structural factors with ethical implications 4. long-term ethical consequences

Answer 31

aspects related to the goal of health care and the urgency of the intervention are dealt with

Answer 32

interventions’ compatibility with ethical norms are dealt with

Answer 33

aspects, not directly of an ethical nature, but with possible implications for an equal access to the intervention are dealt with

Answer 34

long-term consequences of the intervention in itself of from side-effects are dealt with

Answer 35

Q1 Health: How does the intervention influence the health of the patient in terms of quality of life and longevity? (HMSA and the needs and solidarity principle of the ethical platform) Q2 Knowledge gaps: If there is insufficient scientific evidence to support the effect of the intervention, are there ethical and/or methodological obstacles to conducting further research to strengthen the evidence base? (HMSA’s demand for scientific support for health care treatments) Q3 Severity of the condition: How serious is the condition which the intervention is intended to target? (HMSA and the needs and solidarity principle of the ethical platform) Q4 Third party: How does the intervention affect the health of third parties? (HSMA) Summary: Is the benefit-risk ratio of the intervention ethically acceptable?

Answer 36

Q5 Equality and justice: Is there a risk that access to the intervention violates the principle of human value or current legislation against discrimination? (HMSA, the human value principle of the ethical platform and the Swedish Discrimination Act) Q6 Autonomy: Are the parents able to give informed consent or participate in relevant decisions concerning the intervention? (HMSA) Q7 Privacy: How does the intervention affect the privacy of the parent and his/her relatives? (HMSA, and PDA) Q8 Cost-effectiveness: Is there a reasonable balance between the cost of the intervention and its effectiveness? (HMSA and the cost effectiveness principle in the ethical platform) Summary: Is the use of the intervention compatible with ethical norms?

Answer 37

Q9 : Resources and organization: Are there resource and/or organizational limitations that can influence access to the intervention or can result in restricted availability of other procedures if the intervention is implemented? (HMSA and the ethical platform) Q10: Professional values: Can values held by the relevant caring professions influence implementation of the intervention, thereby resulting in unequal access? (HMSA and the ethical platform) Q11: Special interests: Are there special interests, which can influence implementation of the intervention, leading to unequal access? (HMSA and the needs and solidarity principle of the ethical platform, according to which health care should not be driven out of demand) Summary: Is there reason to believe that an equal access to the intervention can be affected by the aspects in Q9-Q11?

Answer 38

Q12: Long terms consequences: Can application of the intervention have ethical consequences in the long term?

Answer 39

no justice

Answer 40

no autonomy

Answer 41

no justice

Answer 42

no justice

Answer 43

only beneficence

Answer 44

quick, painless tests that produce images of the structures inside your body (especially bones)

Answer 45

10-15 minutes

Answer 46

ionizing radiation

Answer 47

- bone fractures - arthritis - osteoporosis - infections - breast cancer - swallowed items - digestive tract problems

Answer 48

use a series of x-rays to cross-sections of inside the body, including bones, blood vessels, and soft tissues

Answer 49

10 to 15 minutes

Answer 50

- injuries from trauma - bone fractures - tumors and cancers - vascular disease - heart disease - infections - used to guide biopsies

Answer 51

use magnetic fields and radio waves to create detailed images of organs and tissues in the body

Answer 52

45 minutes to 1 hour

Answer 53

magnetic waves

Answer 54

ionizing radiation

Answer 55

- aneurysms - Multiple Sclerosis (MS) - stroke - spinal cord disorders - tumors - blood vessel issues - joint or tendon injuries

Answer 56

uses high frequency sound waves to produce images of organs and structures within the body

Answer 57

30 minutes to 1 hour

Answer 58

sound waves

Answer 59

- gallbladder disease - breast lumps - genital/prostate issues - joint inflammation - blood flow problems - monitoring pregnancy - used to guide biopsies

Answer 60

use radioactive drugs (called tracers) and a scanning machine to show how your tissues and organs are functioning

Answer 61

1.5-2 hours

Answer 62

radiotracers

Answer 63

- cancer - heart disease - coronary heart disease - Alzheimer's disease - seizures - epilepsy - Parkinson's disease

Answer 64

* Illness is caused by bacteria, genes, virus or accident. * Illnesses can be identified and classified into different types such as diseases of the nervous system, circulatory system etc. * The classification of disease is seen as objective ‘science’, - but it relies on doctors interpreting and labeling of symptoms

Answer 65

physical explanations of causes (etiology) and provides the basis for doctors ‘expert’ status

Answer 66

classification of illnesses

Answer 67

taxonomizes

Answer 68

critical studies of social institutions, most notably psychiatry, medicine, the human sciences, and the prison system, as well as for his work on the history of human sexuality

Answer 69

The Birth of the Clinic: An Archaeology of Medical Perception

Answer 70

- Michel Foucault - way of seeing (understanding)

Answer 71

the birth of modern medicine was not a common sensical movement towards simply seeing what was already there (and therefore a science without a philosophy), but rather a decisive shift in the structure of knowledge

Answer 72

a new philosophical way of granting meaning and organizing certain objects (classifying; taxonomizing)

Answer 73

* To distinguish among diseases or disorders * To know thoroughly a disease or disorder; to understand * To predict the course of disease or disorder

Answer 74

the art or act of identifying a disease from its signs and symptoms - the decision reached by diagnosis

Answer 75

- screening - treatment - legal

Answer 76

Earlier diagnosis can pre-empt or prevent the onset of disease (e.g., Pap tests; mammograms)

Answer 77

More accurate diagnosis can improve the choice of treatment and thereby lead to improved health outcomes

Answer 78

Resolving disputes about who has legal and economic responsibilities (e.g., DNA paternity testing)

Answer 79

* Commonly used devices * Laboratory tests * Endoscopy * Prenatal tests * Diagnostic imaging * Genetic testing

Answer 80

- thermometers - stethoscope - sphygmomanometers (BP) - otoscopes (examine ear canal/drum) - ophthalmoscopes (retina, optic disk, blood vessels; glaucoma) - electrocardiographs (electrical signals in heart) - pulse oximeter (oxygen saturation) - reflex (percussion) hammer (test deep tendon reflexes) - penlight (assess pupil diameter)

Answer 81

medical procedures that involve testing samples of blood, urine, or other tissues or substances in the body

Answer 82

chemical tests and in tests to find out how the immune system fights diseases

Answer 83

total number of RBCs per volume of whole blood

Answer 84

- blood loss - hemorrhage - bone marrow failure - deficiencies in iron, folate, B6/12 - hemolysis - certain cancers

Answer 85

- high altitude - congenital heart disease - cor pulmonale - polycythemia vera - pulmonary fibrosis - dehydration

Answer 86

total WBC component of whole blood

Answer 87

- bone marrow failure - presence of toxic substance - autoimmune disease - aplastic anemia - liver or spleen disease - radiation exposure

Answer 88

- infectious diseases (bacterial, viral, parasitic, protozoal) - inflammatory disease - leukemia - severe emotional or physical stress - tissue damage

Answer 89

6.5% or above

Answer 90

126 mg/dL or above

Answer 91

200 mg/dL or above

Answer 92

100 -125 mg/dL

Answer 93

140-199 mg/dL

Answer 94

below 5.7%

Answer 95

99 mg/dL or below

Answer 96

140 mg/dL or below

Answer 97

procedure that uses an instrument called an endoscope, or scope for short. Scopes have a tiny camera attached to a long, thin tube. It can be moved through a body passageway or opening to see inside an organ. Sometimes scopes are used for surgery, such as for removing polyps from the colon.

Answer 98

large intestine

Answer 99

urinary system

Answer 100

abdomen or pelvis

Answer 101

esophagus and stomach

Answer 102

invasive sampling of the placental tissue for further genetic analysis of OI. (used in 10th to 12th weeks of gestation)

Answer 103

invasive sampling of umbilical cord blood for further OI genetic analysis (used on 22nd-24th weeks of gestation)

Answer 104

invasive sampling of amniotic fluid for further OI genetic analysis (used from 15th to 20th weeks pf gestation)

Answer 105

NIPT uses fetal DNA from the mother's bloodstream for prenatal testing of OI (used from 7th to 10th weeks of gestation)

Answer 106

allows to discover severe OI cases severe OI cases from 20th weeks of gestation non-invasively

Answer 107

A computerized axial tomography scan is an x-ray procedure that combines many x-ray images with the aid of a computer to generate cross-sectional views and, if needed, three-dimensional images of the internal organs and structures of the body

Answer 108

define normal and abnormal structures in the body and/or assist in procedures by helping to accurately guide the placement of instruments or treatments

Answer 109

quite high (e.g., between 1% and 14%) – Can put women through unnecessary anxiety. – Women who experience false- positives developed a greater sense of risk for breast cancer, and lost confidence in their ability to do breast self-examinations well (Absetz et al., 2003; Long et al., 2019). – Can prompt breast biopsy: majority are benign but nonetheless produce significant distress.

Answer 110

Motion artifacts: distortions to the MRI image caused by patient’s movement. – Can render the scan useless. – Up to 40% of scans have some degrees of motion artifacts, impairing the quality of diagnosis 8%-17% of the time.

Answer 111

Tests on blood, saliva, and other tissue to find genetic disorders

Answer 112

– Finding possible genetic diseases in unborn babies – Finding out if people carry a gene for a disease and might pass it on to their children – Screening embryos for disease – Testing for genetic diseases in adults before they cause symptoms – Confirming a diagnosis in a person who has disease symptoms – Paternity testing

Answer 113

International scientific collaboration that sought to understand the entire genetic blueprint of a human being

Answer 114

there are probably about 20,500 genes (the basic units of heredity) in a human cell, significantly fewer than estimates predicted - mapped the location of these genes on the 23 pairs of human chromosomes, the structures containing the genes in the cell’s nucleus

Answer 115

data derived from mapping and sequencing the human genome will help scientists associate specific human traits and inherited diseases with particular genes at precise locations on the chromosomes

Answer 116

- identified six new genetic variants associated with BMI, or body mass index - the paper estimates that the 1 percent of people harboring the most obesity-causing variants will be an average of 10 pounds heavier than the 1 percent of individuals with the fewest variants, and 4 pounds heavier than a typical person

Answer 117

“individual biographies are inserted into changing classification systems, and patients are ruled into or out of disease categories in unexpected ways”

Answer 118

torque; nosologic creating uncertainties about what disease they ‘‘have’’, and exposing them to uncertainties in clinical management and community practice

Answer 119

so will the demand for monitoring (even from those who are told they have a low risk)

Answer 120

- length of time between the detection of a disease (usually based on new, experimental criteria) and its usual clinical presentation and diagnosis (based on traditional criteria) - bias that occurs when two tests for a disease are compared, and one test (the new, experimental one) diagnoses the disease earlier, but there is no effect on the outcome of the disease– it may appear that the test prolonged survival, when in fact it only resulted in earlier diagnosis when compared to traditional methods. It is an important factor when evaluating the effectiveness of a specific test

Answer 121

form of selection bias, a statistical distortion of results which can lead to incorrect conclusions about the data. Length time bias can occur when the lengths of intervals are analyzed by selecting intervals that occupy randomly chosen points in time or space. This process favours longer intervals, thus skewing the data.

Answer 122

length time bias can affect data on screening tests for cancer. Faster-growing tumours generally have a shorter asymptomatic phase than slower-growing tumours, and so are less likely to be detected. However, faster-growing tumours are also often associated with a poorer prognosis. Slower-growing tumours are hence likely to be over-represented in screening tests. This can mean screening tests are erroneously associated with improved survival, even if they have no actual effect on prognosis

Answer 123

Overestimation of survival duration among screen-detected cases due to the inclusion of pseudodisease - subclinical disease that would not become overt before the patient dies of other causes

Answer 124

1. one in which the disease does not progress (Type I), 2. the other in which the disease does progress -- but so slowly that it never becomes clinically evident to the patient (Type II).

Answer 125

Diagnosis of current patient biased by experience with past cases

Answer 126

Relying on initial diagnostic impression, despite subsequent information to the contrary

Answer 127

Diagnostic decision-making unduly biased by subtle cues and collateral information

Answer 128

Placing undue reliance on test results or "expert" opinion

Answer 129

availability heuristic

Answer 130

Anchoring heuristic (premature closure)

Answer 131

Framing effects

Answer 132

Blind obedience

Answer 133

Ability to produce consistent results

Answer 134

Sensitivity and specificity

Answer 135

Percentage of times clinicians’ subjective assessment of diagnostic probabilities changed after the test

Answer 136

Percentage of time therapy planned before the test changed after the test

Answer 137

Percentage of patients who improved with diagnosis using the test compared with those without diagnosis using the test (e.g., survival, quality of life)

Answer 138

Cost-effectiveness analysis

Answer 139

o providing information that impacts provider decisions regarding the prevention, diagnosis, treatment, and management of disease o aid in identifying illness in a person who presents with symptoms by confirming or ruling out the presence of a specific disease or infection

Answer 140

processing, storage, transport, sampling, handling, preparation (in the preanalytical phase) o may also arise when tests results are not appropriately communicated or used appropriately to inform health care decisions.

Answer 141

to test for disease or infection on samples that are removed from the body for analysis (fluids such as blood, urine, saliva, and sometimes, cerebrospinal fluid, or secretions and cells from the nose, throat, vagina, or an open wound).

Answer 142

o Evaluate the likelihood of an individual developing a particular condition o Routine and at-risk screening tests that may catch disease in its early stages o Lifestyle changes can sometimes be made, or treatment done to minimize risk, or the impact of the condition should it develop o Disease impacts can be minimized, and sometimes prevented, if caught early enough for treatment

Answer 143

o Tests that predict the effectiveness and potential side effects of specific treatments o Tests that ensure ongoing safety and effectiveness of prescribed treatments or course of care o Avoids suffering and wasted time from, and cost of, unproductive treatments o Enables timely intervention to adjust or change treatment as necessary

Answer 144

molecular, hematology, chemistry, microbiology

Answer 145

measure or detect specific substances (analyte) in the body to determine if they are present or present in “normal” amounts; if present in too high or too low amounts it can be an indication that something is wrong and may help identify a specific disease or condition  e.g., fluid samples – blood, urine, saliva  cholesterol, BUN, creatinine (kidney damage/disease)

Answer 146

focus on blood and the components of blood; white blood cells, red blood cells, and platelets created in the bone marrow present in a healthy human’s blood in predictable numbers, typically used to determine specific blood-related diseases or conditions  blood marrow is evaluated to diagnose blood cell cancers such as leukemia  CBC/hemoglobin (anemia), platelet count

Answer 147

look for agents of infectious disease, including bacteria, viruses, parasites, mycobacteria, and fungi, or the body’s immune response (typically antibodies) to these microbes; may be found in patient samples from noses, throats, open wounds, blood, body fluids; Petri dishes, microscope; determines presence of disease or an antibody response to it  Rubella antibody, Hepatitis C antibody test, blood culture

Answer 148

analyze DNA, RNA, or the expression of proteins, look for abnormalities or variations in the genetic code, or identify the presence of specific genes in order to determine predisposition or presence of disease, presence of an infectious agent, or what particular treatment options are likely to be most effective  amplification, a process that produces many copies of the DNA in the fragment in order to allow detection and quantifying of the genes of interest  or probes  e.g., BRCA1, BRCA2, CF mutation

Answer 149

o accuracy: how close reported test results are to the “true” value o precision: how close test results are to each other when they are repeated multiple times on the same sample (precise test is one that consistently and reliably produces the same result)

Answer 150

o sensitivity: measures the probability that a person has the disease or condition suspected by the health care provider ( o specificity: measures the probability that a person does not have the suspected disease or condition (test is 95% specific, 100 people tested, 5% false-positive rate)

Answer 151

* Assisted reproductive technology (ART) * Contraception * Emerging technologies

Answer 152

1. Artificial insemination 2. In Vitro Fertilization and Embryo Transfer (IVF-ET) 3. Surrogacy 4. Mitochondrial Replacement Therapy (MRT)

Answer 153

direct visualization of the peritoneal cavity, ovaries, outside of the tubes and uterus by using a laparoscopy. The laparoscopy is an instrument somewhat like a miniature telescope with a fiber optic system which brings light into the abdomen. It is about as big around as a fountain pen and twice as long.

Answer 154

Process where cells (embryos, eggs, sperm) or whole tissues are preserved by cooling to low sub-zero temperatures, such as 77 K or −196 °C. At these low temperatures, any biological activity, including the biochemical reactions that would lead to cell death, is effectively stopped.

Answer 155

Fertilization of a ripe egg within the uterus of a fertile donor female, rather than in an artificial medium, for subsequent nonsurgical transfer to an infertile recipient.

Answer 156

Process by which egg cells are fertilized by sperm outside of the uterus. The first “test tube baby” was born in 1978

Answer 157

1. superovulation 2. egg retrieval 3. fertilization/insemination 4. embryo transfer

Answer 158

A treatment for male infertility. May also be used where eggs cannot easily be penetrated by sperm. Intracytoplasmic sperm injection (ICSI). – Procedure in which a single sperm is injected directly into an egg

Answer 159

* Infertility: – The woman's partner produces too few motile sperm. * The woman’s partner carries a genetic disorder. * The woman has no male partner

Answer 160

Semen preparation techniques separate motile sperm that are morphologically normal (normal appearance) from seminal plasma (the fluid portion of the semen in which the spermatozoa are suspended) and foreign material. – It is known that white blood cells, bacteria and dead spermatozoa produce oxygen radicals that negatively influence the ability of normal spermatozoa to fertilize the egg. A sperm wash solution containing antibiotics and protein supplements is added to the ejaculate. After repeated centrifugation, the seminal fluid is eliminated from the sample and the sperm cells are concentrated for insemination. This procedure takes 20 to 40 minutes.

Answer 161

An assisted reproductive technology (ART) used to treat certain infertility problems, such as sperm-related infertility. ICSI is used to enhance the fertilization phase of in vitro fertilization (IVF) by injecting a single sperm into a mature egg.

Answer 162

1. intreuterine insemination 2. intracervical insemination 3. intratubal insemination 4. intravaginal insemination

Answer 163

Process: – Sperm is placed into the reproductive tract of a female for the purpose of impregnating the female by using means other than sexual intercourse. – Freshly ejaculated sperm, or sperm which has been frozen and thawed, is placed in the cervix (intracervical insemination, ICI; more popular method) or in the female's uterus (intrauterine insemination, IUI) by artificial means. * The woman is the gestational and genetic mother of the child produced. * The sperm donor is the genetic or biological father of the child. * There may be a slight increased likelihood of multiple births rather than singleton babies if drugs are used by the woman for a stimulated cycle.

Answer 164

These procedures have higher costs and risks related to laparoscopy. And they don't provide as much useful information about embryo development as IVF does

Answer 165

superovulation - uses medicines to stimulate the ovaries to produce multiple eggs. Medicines that may be used are letrozole or gonadotropins, such as a follicle-stimulating hormone (FSH).

Answer 166

- sperm and eggs are placed in a fallopian tube to allow fertilization in the natural site - the woman must have at least one normal, open fallopian tube

Answer 167

gamete intrafallopian transfer

Answer 168

1. removing the eggs 2. the eggs are placed into a thin flexible tube (catheter) along with the sperm to be used 3. the gamete (both eggs and sperm) are then injected into the fallopian tubes using a surgical procedure called laparoscopy (the doctor will use general anesthesia)

Answer 169

- 37% for women age 38 and younger - 24% for women age 39 and older

Answer 170

zygote intrafallopian transfer

Answer 171

1. Eggs are stimulated and collected using IVF methods. 2. Then the eggs are mixed with sperm in the lab. 3. Fertilized eggs (zygotes) are then returned to the fallopian tubes with laparascopic surgery. From there, they will be carried into the uterus. The goal is for the zygote to implant in the uterus and develop into a fetus

Answer 172

two - when the eggs are retrieved - when they are implanted into the fallopian tube

Answer 173

ZIFT (fertilization has already taken place)

Answer 174

fewer eggs are being used; lessening risk of multiple birth

Answer 175

– IVF does not require general anesthesia or laparoscopic intervention. – Currently, GIFT patients are mainly those who may require diagnostic laparoscopy or laparoscopy for treatment of endometriosis, in which case procedures are combined as a cost saving measure

Answer 176

new form of reproductive in vitro fertilization (IVF) which works on the principle of replacing a women's abnormal mitochondrial DNA (mt-DNA) with the donor's healthy one

Answer 177

adenosine triphosphate (ATP)

Answer 178

- gene cloning - reproductive cloning - therapeutic cloning

Answer 179

produces copies of genes or segments of DNA

Answer 180

produces copies of whole animals

Answer 181

produces embryonic stem cells for experiments aimed at creating tissues to replace injured or diseased tissues

Answer 182

scientists transfer genetic material from the nucleus of a donor adult cell to an egg whose nucleus, and thus its genetic material, has been removed

Answer 183

it is transferred to the uterus of a female host where it continues to develop until birth

Answer 184

– There currently is no solid scientific evidence that anyone has cloned human embryos. – From a technical perspective, cloning humans and other primates is more difficult than in other mammals. – One reason is that two proteins essential to cell division, known as spindle proteins, are located very close to the chromosomes in primate eggs. Consequently, removal of the egg's nucleus to make room for the donor nucleus also removes the spindle proteins, interfering with cell division

Answer 185

proved that the genetic material from a specialized adult cell, such as an udder cell programmed to express only those genes needed by udder cells, could be reprogrammed to generate an entire new organism.

Answer 186

The genetic profiling of embryos prior to implantation, and sometimes even of oocytes prior to fertilization.

Answer 187

A method of reproduction whereby a woman agrees to become pregnant an deliver a child for a contracted party. She may be the child's genetic mother (the more traditional form of surrogacy) Or she may act as a gestational carrier, to carry the pregnancy to delivery after having been implanted with an embryo.

Answer 188

The process of removing a small portion of tissue from the testicle under local anesthesia to extract viable sperm cells. – for the purpose of intracytoplasmic sperm injection (ICSI)

Answer 189

men who are unable to produce sperm by ejaculation as a result of primary testicular failure, congenital absence of the vas deferens or non- reconstructed vasectomy.

Answer 190

* Barrier (condom, sponge, cervical cap) * Hormonal (“the pill”) * Emergency (“morning after pill”) * Intrauterine (IUD) * Induced abortion * Sterilization (tubal ligation and vasectomy)

Answer 191

* Spermicides * Spray-on contraceptives

Answer 192

* Oral contraceptive * Spermicides * Vas-occlusive contraception * Heat-based contraception (testicles)

Answer 193

- artificial wombs - germinal choice technology - in vitro parthenogenesis - reprogenetics

Answer 194

allows parents to influence the genetic constitution of their children

Answer 195

an asexual form of reproduction found in females where growth and development of embryos or seeds occurs without fertilization by a male

Answer 196

the merging of reproductive and genetic technologies expected to happen in the near future as techniques like Germinal Choice technology become more available and more powerful

Answer 197

cost or lack of accessibility in certain geographic areas

Answer 198

* assumptions behind existing systems of sexual and reproductive morality. * issues of human enhancement (application to reproductively healthy people.

Answer 199

What to do with leftover frozen embryos? Compensation for egg or embryo donation? Donor sperm for single women or gay couples? Number of embryos transferred into the uterus leading to high order multiple pregnancies with the possible need for selective reduction? Genetic counseling and preimplantation diagnosis?

Answer 200

Yes; 32% increased risk

Answer 201

* The AHR Act prohibits human cloning and regulates the use of human embryos in research. * The Act prohibits payment for surrogacy, and for gamete, gene, or cell donations. * The Act prohibits pre-determining the sex of an embryo using pre-implantation genetic diagnosis (PGD), except to prevent a sex-linked disease or genetic condition. Therefore, for example, using PGD for "family balancing" is prohibited in Canada

Answer 202

– Intrauterine insemination (IUI) – In vitro fertilization (IVF) and intra cytoplasmic sperm injection (ICSI) – Obtaining or importing sperm and eggs for reproductive purposes, or in vitro embryos for any purpose

Answer 203

o using the semen of the husband or designated partner (AIH) o employing semen of a third party, or donor insemination (DI)

Answer 204

 recommended when the male partner is unable to ejaculate within the vagina  when the sperm displays deficiencies in numbers of sperm or in their ability to move  when male partner has hypospadias (a penile abnormality in which the opening of the urethra is located a distance from the tip of the glans penis, causes the ejaculate to be deposited at the periphery of the vagina even when the penis is well within)  when male partner has retrograde ejaculation (caused by a complication of prostatic surgery resulting in the formation of a channel that causes the ejaculate to be directed away from the penis and retrograded into the bladder)

Answer 205

 when male partner suffers from azoospermia (absence of spermatozoa)  quality of specimen is poor/deficiencies in semen  Huntington's disease, Tay-Sachs disease or hemophilia

Answer 206

(with donor) both partners are usually required to review and sign a detailed informed-consent form; awareness of the importance of careful counseling and the use of appropriate permission forms; it is important to maintain confidential donor records, including all of the information on the screening procedures, so that it is available in the future in case it is needed for medical reasons

Answer 207

o spermatozoon is exposed to the environment of the female reproductive tract for a period of time before it acquires the ability to penetrate the layers surrounding the recently ovulated oocyte o takes between one and two hours in the human

Answer 208

o donor insemination is sometimes used in IVF when there is failure of fertilization using the male partner's specimen o analogues of the gonadotropinreleasing hormone are now used to prevent the patient from ovulating before the oocytes could be obtained; they block the release of the patient’s pituitary gonadotropins, and the ovaries can be brought under the complete control of exogenously administered hormones.

Answer 209

o serologic tests: syphilis and serum hepatitis B antigen (initially and after 6 months) o genitalia cultured for gonorrhea and chlamydia o screening for AIDS virus antibodies is (after 6 months)

Answer 210

o success rate of cryopreservation is unpredictable o lower pregnancy rate

Answer 211

o several visits for hormone determinations and ultrasound are required o ovum recovery usually has complications o ovarian infection may occur

Answer 212

o greatly increased possibility of multiple pregnancy o triplets or more greatly increase the possibility of fetal loss

Answer 213

o manipulation of gametes and pre-embryos under magnification o used to insert a spermatozoon mechanically through the zona pellucida directly into the oocyte itself (intracytoplasmic sperm insertion – ICSI) o used for males with a congenitally obstructed vas deferens; sperm recovered from epididymis o used to determine whether the embryo is genetically normal by removing the second polar body for chromosome analysis

Answer 214

o used for: couples with unexplained infertility and women with extratubal disease (pelvic adhesions or endometriosis) o not used for: those with damaged or absent fallopian tubes

Answer 215

o 1. surrogate provides the gestational, but not the genetic component (pre-embryo transferred to woman other than the woman providing the oocytes) o 2. surrogate provides the genetic component (husband's spermatozoa are used to inseminate a woman other than his wife; surrogate mother carries the gestation to term) o used when ovaries are present, but not uterus

Answer 216

o cytoplasmic transfer is used to improve oocyte quality o ovarian infection could occur following ovum retrieval, which could result in permanent sterility o children born as a result of this technique have now exhibited traces of mitochondrial DNA from the donor egg – may result in untoward consequences in the future and, defects transmitted might be heritable and therefore could be observed in the next generation

Answer 217

Engineering the properties of tissues and cells so that they might be introduced into a patient in order to regenerate damaged or non-functional tissue, such as bone, brain, cartilage, and blood cells.

Answer 218

Can involve combining biological tissue with synthetic materials. – E.g., creating new tissue for treatment of ulcers and skin lesions associated with diabetes, and for serious burns. – E.g., repair of bone fractures.

Answer 219

Clustered Regularly Interspaced Short Palindromic Repeats

Answer 220

gene editing tool that acts as a precise pair of molecular scissors that can cut a target DNA sequence, directed by a customizable guide

Answer 221

A palindromic sequence of nucleotides (which are labeled A, T, C, or G) occurs when complementary strands of DNA read the same in both directions

Answer 222

* When the target DNA is found, Cas9 – one of the enzymes produced by the CRISPR system – binds to the DNA and cuts it, shutting the targeted gene off. * Using modified versions of Cas9, researchers can activate gene expression instead of cutting the DNA.

Answer 223

- adult stem cells - embryonic stem cells

Answer 224

more limited ability to give rise to various cells of the body

Answer 225

- present in many adult tissues, such as bone marrow or fat

Answer 226

they can divide into more stem cells or can become any type of cell in the body

Answer 227

pluripotent

Answer 228

– come from embryos that are 3 to 5 days old * at this stage, an embryo is called a blastocyst and has about 150 cells – this versatility allows embryonic stem cells to be used to regenerate or repair diseased tissue and organs

Answer 229

reproduce to maintain and repair the specific tissue or organ in which they are found

Answer 230

isolated and extracted from oneself

Answer 231

isolated and extracted from other people

Answer 232

- hematopoietic - stromal

Answer 233

form all the types of blood cells in the body

Answer 234

a mixed cell population that generates bone, cartilage, fat, and fibrous connective tissue.

Answer 235

donated ‘spare’ embryos from IVF programs.

Answer 236

* To renew themselves indefinitely. * To become specialized cells. * Totipotent – Early stage of fetal development (up to 8 cells).

Answer 237

capable of developing into a complete organism or differentiating into any of its cells or tissues (including extra-embryonic tissues – placenta and umbilical cord).

Answer 238

capable of differentiating into one of many cell types

Answer 239

A preimplantation embryo of 30-150 cells. The blastocyst consists of a sphere made up of an outer layer of cells (the trophectoderm), a fluid-filled cavity (the blastocoel), and a cluster of cells on the interior (the inner cell mass)

Answer 240

The formation of germ layers from a (1) blastula to a (2) gastrula. Some of the ectoderm cells (orange) move inward forming the endoderm (red).

Answer 241

medically terminated pregnancies

Answer 242

Cells of mesodermal origin that are capable of developing into connective tissues, blood, and lymphatic and blood vessels

Answer 243

1. Growing and sub-culturing the stem cells for many months 2. Determining the presence of surface markers that are found only on undifferentiated cells 3. Examining the chromosomes under a microscope. 4. Testing whether the human embryonic stem cells are pluripotent

Answer 244

the cells are capable of long-term self-renewal

Answer 245

test for the presence of a protein called Oct-4, which helps turn genes on and off at the right time

Answer 246

This is a method to assess whether the chromosomes are damaged or if the number of chromosomes has changed. It does not detect genetic mutations in the cells.

Answer 247

a. allowing the cells to differentiate spontaneously in cell culture; b. manipulating the cells so they will differentiate to form specific cell types; or c. injecting the cells into an immunosuppressed mouse to test for the formation of a benign tumor called a teratoma. Teratomas typically contain a mixture of many differentiated or partly differentiated cell types—an indication that the embryonic stem cells are capable of differentiating into multiple cell types.

Answer 248

* Introduced in 2004 as “Proposition 71” * Campaign relied heavily on the support of Christopher Reeve * Established an institute for regenerative medicine; $300 million

Answer 249

* Potential to cure “incurable” conditions, such as Parkinson’s disease. * Repair damaged organs (e.g., heart and spinal cord). * Testing drug toxicity (based on human models instead of animal models) (an important new advance) * Immune system therapy in Multiple Sclerosis (MS)

Answer 250

Caused by a progressive degeneration and loss of dopamine (DA)-producing neurons, which leads to tremor, rigidity, and hypokinesia (abnormally decreased mobility)

Answer 251

PD; the knowledge of the specific cell type (DA neurons) needed to relieve the symptoms of the disease, several laboratories have been successful in developing methods to induce embryonic stem cells to differentiate into cells with many of the functions of DA neurons

Answer 252

1. Proliferate extensively and generate sufficient quantities of tissue. 2. Differentiate into the desired cell type(s). 3. Survive in the recipient after transplant. 4. Integrate into the surrounding tissue after transplant. 5. Function appropriately for the duration of the recipient's life. 6. Avoid harming the recipient in any way. 7. Avoid the problem of immune rejection.

Answer 253

* Harvesting embryonic stem cells destroys the blastocyst * “This is murder” * Embryonic stem cell research requires human cells. * Could create a commercial market for human cells. * “This devalues life”

Answer 254

- most: UK - least: Germany

Answer 255

Assisted Human Reproduction and Related Research Act was passed in March 2004

Answer 256

Yes (unrestricted)

Answer 257

Yes (controlled) - blastocyst must be destroyed after 14 days of development - written consent from donors required - no sale of human cells donor - must be at least 18 yrs old

Answer 258

maintain, restore, or improve the function of damaged tissues

Answer 259

o tissue engineering is used to treat more severe diseases that cannot be treated with regular pharmaceuticals (e.g., Alzheimer’s, Parkinson’s, osteoarthritis) or diseases at advanced stages

Answer 260

o tissue taken from another location of the individual’s body

Answer 261

o the combination of three pillars: cells, signals, and scaffolds  cells: autologous, heterologous, differentiated, stem cell  signals: growth factors, small molecules, mechanical forces,  biomaterials/scaffolds: natural, synthetic, hydrogels, meshes o current advances in tissue engineering involve development in all elements of the triad

Answer 262

o ECM: extracellular matrix o it is a natural scaffold that allows cell attachment, proliferation, and differentiation o important because it is involved in a method of scaffolding: the decellularization of the ECM from either allogeneic or xenogeneic tissues; when seeded with the proper cells, it can produce an autologous construct without the need for extracting tissues from the patient him/herself

Answer 263

o scaffolding: support structures designed to facilitate cellular growth and proliferation upon implantation into the patient o challenges:  choosing scaffold biomaterials: scaffolds must respond to both the structural and functional requirements of the body (must be biocompatible and should be able to communicate with the ECM while at the same time providing the needed mechanical support)  use of a pre-made porous scaffold: post-fabrication cell seeding is both time consuming and not efficient  encapsulating the cells during scaffold formation: load-bearing functions  decellularization of the ECM: inhomogeneous distribution of the seeded cells and the difficulty of removing all immune-provoking material

Answer 264

o allogeneic: cells that are genetically dissimilar and hence immunologically incompatible, although from individuals from the same species o xenogeneic: cells belonging to individuals of different species o used to overcome the shortage of autologous cell availability

Answer 265

o autologous cells o do not evoke immune response; eliminate need for immunosuppressants and their side effects

Answer 266

o smart biomaterials: capable of directing cell functions and/or enhancing cellular performance o designed to interact with biological systems for a wide range of biomedical applications; from the delivery of bioactive molecules and cell adhesion mediators to cellular functioning for the engineering of functional tissues to treat diseases

Answer 267

the ones that involve oxygen levels, mechanical stimulation, growth factors, ECM molecules, and other small molecules

Answer 268

o in general, they play fundamental roles in bone repair and bone formation o most commonly used type: bone marrow stromal cells (BMSCs)  able to differentiate toward the osteogenic lineage o bone morphogenetic proteins (BMPs)  shown to induce bone formation especially BMP-2 and BMP-7 o TGF-β [121], VEGF [122], fibroblastic growth factor (FGF), insulin-like growth factor (IGF), and platelet-derived growth factor (PDGF)  involved in bone repair and bone formation

Answer 269

o development of extracorporeal life support units o in vitro disease models o tissues for drug screening o smart diagnosis o personalized medicine

Answer 270

o to be able to control and ideally to cure many diseases that are still incurable o mimic the natural properties available in vivo such as architecture, environment, growth factors, and biomechanics; the tissue is just an intermediate step toward the development of the actual treatment

Answer 271

o drug testing: engineered tissue is used to make a 3D model of a patient’s organ, to test the efficacy of different drugs on different patients o tailoring the tissue construct itself to fit the needs of a specific patient: allows the cells’ survival by making it compatible with the cells’ microenvironment and with the host tissue’s mechanical, physical, and chemical properties

Answer 272

o deciding the source of cells (autologous, allogenic, xenogeneic) to seed in the scaffold is numerous and challenging o choice of scaffold biomaterials  must respond to structural and functional requirements of the body  biocompatible  communicate with ECM  provide mechanical support o transportation of nutrients and waste secretion in the engineered tissue  3D engineered tissue needs to be vascularized with a vascular capillary network  oxygen is directly consumed, and new vessels are formed only after several days o mass production and commercialization of the engineered tissues  manufacturing conditions and quality control strategies  providing long-term storage and shipping facilities while ensuring that the structure and function of the tissues are intact

Answer 273

1. Genetic Engineering 2. Vaccines 3. Gene Transfer Therapy 4. Genome Editing

Answer 274

living organisms inherit features from their ancestors – for example, children often look like their parents

Answer 275

provide the information/instructions needed to make molecules called proteins in cells (which carry out these instructions)

Answer 276

one (it's a specialist)

Answer 277

which proteins to make; what amounts

Answer 278

When a gene is read by a cell the DNA sequence is copied into a very similar molecule called RNA

Answer 279

ribosome; the sequence of nucleotides in the RNA into the correct sequence of amino acids, amino acids join together to make complete protein chain

Answer 280

new protein then folds up into its active form. The process of moving information from the language of DNA into the language of amino acids

Answer 281

often inherited, or come from the interaction between inherited features and the environment

Answer 282

random events that change the sequence of a gene and therefore create a new allele

Answer 283

caused by single allele of a gene and are inherited in families - CF - hemophilia - sickle cell anemia - Duchenne muscular dystrophy

Answer 284

caused by mutations in a single gene called CFTR and is inherited as a recessive trait.

Answer 285

result of large number of alleles + environment/lifestyle

Answer 286

uses laboratory-based technologies to alter the DNA makeup of an organism. * This may involve changing a single base pair (A-T or C-G), deleting a region of DNA or adding a new segment of DNA

Answer 287

- human insulin - human growth hormone - hepatitis B vaccine - genetically-modified organisms (disease resistant plants)

Answer 288

contain live virus particles that have been weakened to keep them from causing disease (might not be suitable for compromised immune systems) - MMR, chicken pox, COVID

Answer 289

contain whole virus particles that have been killed or inactivated to keep them from causing disease - safer (dead), require booster - polio, few COVID

Answer 290

use low pathogenic viruses and convert them into viral vectors that produce some of the same proteins as the disease-causing virus - strong immune response - used in vet med

Answer 291

similar to replicating viral vaccines, but cannot replicate (replication genes deleted) - improved efficacy and safety - ebola

Answer 292

use DNA plasmids containing gene for SarsCov-2 + additional genetic elements that will produce the same antigenic proteins - not used in humans

Answer 293

mRNA that will produce some of the same antigenic proteins as the disease-causing virus - may trigger unintended immune response - not used in humans

Answer 294

antigenic protein from disease causing virus without causing any genetic material - relatively safer; no genetic material and no replication in body - HPV, pertussis, hepatitis B

Answer 295

The insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one. Although the technology is still in its infancy, it has been used with some success.

Answer 296

provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues. More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis.

Answer 297

Target cells such as the patient's liver or lung cells are infected with the vector. The vector then unloads its genetic material containing the therapeutic human gene into the target cell. The generation of a functional protein product from the therapeutic gene restores the target cell to a normal cell.

Answer 298

- germ line gene therapy - somatic gene therapy

Answer 299

* In the case of germ line gene therapy, germ cells, i.e., sperm or eggs, are modified by the introduction of functional genes, which are ordinarily integrated into their genomes. * Therefore, the change due to therapy would be heritable and would be passed on to later generations. * Theoretically, should be highly effective in counteracting genetic disorders. However, this option is prohibited for application in human beings, at least for the present, for a variety of technical and ethical reasons.

Answer 300

* Somatic cells are named based on the Greek term soma. In Greek, soma means body. Every cell type in an organism’s body, except the reproductive cells, is a somatic cell. More simply put, a somatic cell is a non-sex cell. * In the case of somatic gene therapy, therapeutic genes are transferred into the somatic cells of a patient. * Any modifications and effects will be restricted to the individual patient only, and will not be inherited by the patient's offspring.

Answer 301

- viral vectors - homologous recombination - selective reverse mutation - regulation

Answer 302

A normal gene may be inserted into a nonspecific location within the genome to replace a nonfunctional gene. (Most common approach.)

Answer 303

abnormal gene swapped for normal gene; involves a genetic exchange between two similar or identical strands of DNA). (Widely used in cells to accurately repair double-strand breaks in DNA)

Answer 304

returns the gene to its normal function

Answer 305

the degree to which a gene is turned on or off of a particular gene could be altered

Answer 306

1. Trouble preventing undesired effects. 2. Ensuring the virus will infect the correct target cell in the body. 3. Ensuring that the inserted gene doesn't disrupt any vital genes already in the genome.

Answer 307

virus with an RNA genome that replicates by using a viral reverse transcriptase enzyme to transcribe its RNA into DNA in the host cell. The virus thereafter replicates as part of the host cell's DNA.

Answer 308

HIV; can lead to AIDS

Answer 309

If genetic material happens to be inserted in the middle of one of the original genes of the host cell, this gene will be disrupted (insertional mutagenesis). If the gene happens to be one regulating cell division, uncontrolled cell division (i.e., cancer) can occur.

Answer 310

Viruses that carry their genetic material in the form of double-stranded DNA. They cause respiratory, intestinal, and eye infections in humans (especially the common cold). This vector system has shown real promise in treating cancer. – The first gene therapy product to be licensed to treat cancer is an adenovirus.

Answer 311

repeated hematopoietic stem cell transplantation with a CCR5 mutation

Answer 312

resistant to certain strains of HIV infection - delta 32 mutation

Answer 313

treatment for the ultra-rare genetic disease lipoprotein lipas deficiency (LPLD) under exceptional circumstances

Answer 314

LPLD affects no more than two people per million in the general population. People with LPLD cannot break down fat, and must manage their disease with a restricted diet. However, dietary management is difficult, and a high proportion of patients suffer life-threatening pancreatitis.

Answer 315

* Severe combined immune deficiency (SCID) * Hemophilia * Blindness caused by retinitis pigmentosa * Cancer: – Leukemia – Lymphoma * Blood disorder : – Sickle Cell Disease – Beta thalassemia * Spinal Muscular Dystrophy

Answer 316

- safety - informed consent - justice and equity - genome-editing research involving embryos

Answer 317

The possibility of off-target effects (edits in the wrong place) and mosaicism (when some cells carry the edit but others do not). It might affect the development of a fetus in unexpected ways or have long-term side effects that are not yet known

Answer 318

Some people worry that it is impossible to obtain informed consent for germline therapy because the patients affected by the edits are the embryo and future generations. The counterargument is that parents already make many decisions that affect their future children, including similarly complicated decisions such as PGD with IVF. Researchers and bioethicists also worry about the possibility of obtaining truly informed consent from prospective parents as long as the risks of germline therapy are unknown

Answer 319

A concern that genome editing will only be accessible to the wealthy and will increase existing disparities in access to health care and other interventions. Some worry that taken to its extreme, germline editing could create classes of individuals defined by the quality of their engineered genome.

Answer 320

Moral and religious objections to the use of human embryos for research. In the U.S., federal funds cannot be used for any research that creates or destroys embryos. In Canada, the AHR Act allows human embryo research only if the embryo to be used in the research is no longer needed for reproductive purposes and both gamete donors and the individual(s) for whom the embryo was created have given their consent for its research use in accordance with the regulations

Answer 321

- short-lived nature of gene therapy - immune response - problems with viral vectors - multigene or multifactorial disorders - insertional mutagenesis - religious concerns

Answer 322

Conditions or disorders that arise from mutations in a single gene are the best candidates for gene therapy. Unfortunately, some of the most commonly occurring disorders, such as heart disease, high blood disease, Alzheimer’s disease, arthritis, and diabetes, are caused by the combined effects of variations in many genes

Answer 323

If the DNA is integrated in the wrong place in the genome, for example in a tumor suppressor gene, it could induce a tumor (e.g., X-SCID clinical trials)

Answer 324

Viruses, while the carrier of choice in most gene therapy studies, present a variety of potential problems to the patient —toxicity, immune and inflammatory responses, and gene control and targeting issues. In addition, there is always the fear that the viral vector, once inside the patient, may recover its ability to cause disease

Answer 325

The risk of stimulating the immune system in a way that reduces gene therapy effectiveness is always a possibility. Furthermore, the immune system’s enhanced response to invaders it has seen before makes it difficult for gene therapy to be repeated in patients

Answer 326

Before gene therapy can become a permanent cure for any condition, the therapeutic DNA introduced into target cells must remain functional and the cells containing the therapeutic DNA must be long-lived and stable. * Problems with integrating therapeutic DNA into the genome and the rapidly dividing nature of many cells prevent gene therapy from achieving any long-term benefits. * Patients will have to undergo multiple rounds of gene therapy.

Answer 327

o introduce a new gene into cells to help fight a disease o introduce a non-faulty copy of a gene to stand in for the altered copy causing disease

Answer 328

o fix a genetic alteration underlying a disorder, so the gene can function properly o turn on a gene to help fight a disease o turn off a gene that is functioning improperly o remove a piece of DNA that is impairing gene function and causing disease

Answer 329

o gene therapy: alters genetic code to recover the functions of critical proteins o the instructions for making proteins are carried in a person’s genetic code; mutations in code can impact the production of function of proteins that are critical to how the body works o fixing or compensating for disease-causing genetic changes through gene therapy may recover the role of these important proteins and allow the body to function as expected.

Answer 330

gene editing introduces molecular tools to change the existing DNA in the cell, instead of introducing new genetic material into cells

Answer 331

they can deliver the material by infecting the cell (modified so they can’t cause disease when used in people)

Answer 332

o the virus may trigger a dangerous immune response o vectors that integrate the genetic material into a chromosome can cause errors that lead to cancer

Answer 333

o nanoparticles as vectors: deliver the genetic material or gene-editing components into cells  designed with specific characteristics to target them to particular cell types  less likely to cause immune responses  easier to modify for specific purposes

Answer 334

o how can “good” and “bad” uses of these technologies be distinguished? o who decides which traits are normal and which constitute a disability or disorder? o will the high costs of gene therapy make it available only to the wealthy? o could the widespread use of gene therapy make society less accepting of people who are different? o should people be allowed to use gene therapy to enhance basic human traits such as height, intelligence, or athletic ability?

Answer 335

o combines the technologies of gene therapy (introduces cells to the body that have a particular function to help treat a disease) and cell therapy (cells have been genetically altered to give them the special function) o introduces a gene to a person’s T cells, which are a type of immune cell; provides instructions for making a protein, called the chimeric antigen receptor (CAR), that attaches to cancer cells. The modified immune cells can specifically attack cancer cells

Answer 336

o use pieces of RNA, which is a type of genetic material similar to DNA, to help treat a disorder o the pieces of RNA interact with a molecule called messenger RNA o mRNA uses the information in genes to create a blueprint for making proteins. o can influence how much protein is produced from a gene, which can compensate for the effects of a genetic alteration o antisense oligonucleotide (ASO), small interfering RNA (siRNA), and microRNA (miRNA) therapies

Answer 337

o epigenetic: behaviours and environment can cause changes that affect the way your genes work; reversible and do not change your DNA sequence o epigenetic therapy: affects epigenetic changes in cells; special modifications (tags) attached to DNA that control whether genes are turned on or off  epigenetic therapies are used to correct epigenetic disorders that underlie genetic disorders

Answer 338

- life support - substitute for body structure or function - medical treatment - measurement of living body function

Answer 339

1. life support (e.g., dialysis, mechanical ventilator); 2. substitution for body structure or function (e.g., implanted electrical stimulator, prosthetic limb, cochlear implant); 3. medical treatment (e.g., injection devices); 4. measurement (e.g., glucose monitor, fMRI).

Answer 340

(a) the diagnosis, treatment, mitigation or prevention of a disease, disorder or abnormal physical state, or its symptoms, in human beings or animals, (b) restoring, correcting or modifying a body function or the body structure of human beings or animals, (c) the diagnosis of pregnancy in human beings or animals, or (d) the care of human beings or animals during pregnancy and at and after birth of the offspring, including care of the offspring, *and includes a contraceptive device but does not include a drug*

Answer 341

Devices in this category are those whose failure or misuse is unlikely to result in serious consequences.

Answer 342

These are devices including many diagnostic instruments whose misuse, failure or absence (e.g. out of service with no replacement available would have a significant impact on patient care, but would not be likely to cause direct serious injury

Answer 343

High risk devices are life supports, critical monitoring, energy emitting and other devices whose failure or misuse is reasonably likely to seriously injure patient or staff.

Answer 344

device intended to measure the activity of the enzyme amylase in serum and urine - used primarily for the diagnosis and treatment of pancreatitis (inflammation of the pancreas).

Answer 345

emergency procedure to avoid death from suffocation due to upper airway obstruction (e.g. glottis edema, foreign body, larynx carcinoma) when intubation or tracheotomy are impossible

Answer 346

o increase the lifespan/improve the quality of life o positive impact on quality of life and well-being o no direct correlation between medical devices and QoL  improvements are more influenced by the opportunities to engage in life activities and participate in society

Answer 347

o medical devices: (sustains life) o assistive devices: designed for intervention at the component levels described in the ICF as Activities and Participation  self-support (e.g., powered wheelchair, print magnifier, augmentative communication device)  support from others (e.g., toilet and bath transfer devices; assistive devices for feeding)

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