Why adults choose not to have genetic studies done?
Why adults choose not to have genetic studies done?
Description
School: University of Colorado Colorado Springs
Department: OTHER
Course: Human Biology
Professor: Doug dolan
Term: Spring 2017
Tags: Biology
Cost: 50
Name: Study guide-Biology Exam #2
Description: A word document of the study guide for the upcoming exam.
Uploaded: 04/08/2018
Reviews
List the first three types of stem cell research and a pros and cons for each. Adult Stem Cells
Why adults choose not to have genetic studies done?
Found in adult organs and tissues, most bone marrow.
Pros
>the stem cells come from the person and no tissue rejection
>Ethical problems are minimum
>Easy to collect
Cons
>The plasticity or flexibility of these cells to differentiate into desired cells or organs is reduced
>The complex repair of the neural tissue and the maintenance of normal brain or spinal cord function is not now possible.
List the first three types of stem cell research and a pros and cons for each Umbilical Cord Stem Cells
Stem cells collected from the umbilical cord after of a baby after delivery. Pros
What is the importance of options in genetic counseling?
>easily collected
>High flexibility of organ and tissue production.
>Found in large amounts
Cons
>small population that tissue rejection would not be a problem. If you want to learn more check out What is ribosomes?
>We are not routinely collecting umbilical cord stem cells.
>A high cost of keeping frozen stem cells.
List the first three types of stem cell research and a pros and cons for each Blastocyst Stem Cells
Undifferentiated cells from the inner cell mass of the 59 day blastocyst. Pros If you want to learn more check out programming fundamentals notes
>More plasticity or flexibility for a greater variety of tissue applications. >A reasonable source of different stem cells.
What is the twofold purpose of genetic counseling?
If you want to learn more check out fixared
Don't forget about the age old question of Responsivenes
>Many in vitro fertilized blastocyst cells could be instead of being
destroyed
Cons
>The ethics of using 59 day gestation human inner cell mass tissue
>There is still a high amount of tissue rejection possible.=====List three medical applications for stem cells.Leukemia
Cardiovascular disease
diabetes
Explain 2 potential future benefits of stem cell research.
Treats Neurodegenerative Diseases
List and explain two genetic tests that can be done on fetuses
Amniocentesisfluid from around the fetus is extracted by week 1420 Chorionic villus samplingVilli from the placenta is extracted at 1012 weeks gestation. Mostly tested for chromosomal and possibly enzyme deficiency tests. If you want to learn more check out biology concepts and investigations 3rd edition
List and explain a genetic testing that are done with newbornsNewborn screening tests
check for rare but serious conditions in babies just after birth. All states require certain screening tests to be performed on newborns, even if they appear healthy. blood disordersSC disease (1/800), Hypothyroidism(1/2200)
Infectious enzyme disease HIV
Enzyme deficiencyPKU (1/1900)
Other genetic disordersCystic fibrosis (1/4000), krab disease (1/100000)
List and explain two genetic tests that can be done on adults.
Presymptomatic testing for predicting adult onset disorders
Alzheimer'sAPOE4
huntingtonsonset after 40yrs
EmphysemaAlpha 1antitrypsin
NeurofibromatosisNerve tumors (cancers)
Explain why adults will choose not to have genetic studies done. might not be a treatment for the disease they find out about We also discuss several other topics like ud soup cycle
No regulations are in place for evaluating the accuracy and reliability of adult genetic testing
Explain the importance of options in genetic counseling.
genetic counselors can help families to understand the significance of genetic disorders in the context of cultural, personal, and familial situations.
Explain the twofold purpose of genetic counseling
1.to help people make responsible educated well informed decisions concerning reproduction.
2.To make possible early diagnosis and management of genetic disorders
Explain the explanation for personhood beginning at: Conception people believe that when the ovum is fertilized that is the beginning of a chi
Explain the explanation for personhood beginning at: Day 14
the occurrence of gestation
Explain the explanation for personhood beginning at: Day 22
the heart starts so some people think that is when the developing fetus is a person
Explain the explanation for personhood beginning at: Day 70 (week 9) Babies no longer an embryo is now a fetus
Explain the explanation for personhood beginning at: (Day 100) and baby's proportions are becoming even more normal, since his or her legs now outmeasure the arms.
Explain the explanation for personhood beginning at:
(week 1921)
Her arms and legs are in proportion to each other and the rest of her body now. Your baby's kidneys continue to make urine, and the hair on her scalp is sprouting.
Explain how you think extra blastocysts from in vitrofertilization should be handled.
Extra blastocysts can be given away, destroyed or sold to a different family that need the blastocysts
List the major structures and functions of the male reproductive system. Penisthe organ of sexual intercourse that delivers sperm to the female reproductive tract
Scrotuma pouch of skin containing the testicles
Testisthe organ that produces spermatozoa (male reproductive cells) epididymisa highly convoluted duct behind the testis which sperm passes to the vas deferens.
Vas Deferensthe duct that conveys sperm from the testicles to urethra . Seminal Vesicleseach of a pair of glands that open into the vas deferens near its junction with the urethra and secrete many of the components of semen. Seminal Vesicleseach of a pair of glands that open that open into the vas deferens near its junction with the urethra and secrete many of the components of semen.
The Prostate glanda gland surrounding the neck of the bladder in male mammals and releasing prostatic fluid
Cowper's glandeither pair of small glands that open the urethra at the base of the penis an secrete a constituent of seminal fluid.
List the major structures and functions of the female reproductive system. labia majora and minora the larger outer folds and inner folds of the vulva clitorisa small sensitive and erectile part of female genitals at the interior of the vulva (kind if the female version of the penis)
OvariesA female reproductive organ in which ova or eggs are produced, present and other human vertebrates as a pair
fallopian tubesa pair of tubes along which eggs travel from the ovaries to uterus
Uterus the organ that the lower body of a woman or female offspring are conceived and in which they gestate before birth, the womb
Cervixthe narrow neck like passage forming at the lower end of the uterus. (the neck)
Vaginathe muscular tube leading from the external genitals to the cervix of the uterus in women and most female mammals
Explain what happens during a female's 28 day menstrual cycle. Step 1:The primary follicle contains the primary oocyte. The follicle cells secrete the sex hormone estrogen.
Step 2:The layer of the follicle cells thickens. Estrogen containing fluid accumulates, resulting in the formation of a cavity.
Step 3:The mature (Graafian) follicle results in the rapid growth. Meiosis 1 forms a secondary oocyte and polar body.
Step 4:At ovulation the mature follicle ruptures, releasing the secondary oocyte. Step 5:the corpus luteum forms the follicle cells taht remain in the ovary. It secretes hormones estrogen and progesterone.
Step 6:If pregnancy does not occurs when the corpus luteum disintegrates=====
all 4 hormones and their functions
Progesteronehormone secreted by the female reproductive system that functions mainly to regulate the condition of the inner lining (endometrium) of the uterus. Progesterone is produced by the ovaries, placenta, and adrenal glands.
FSHthis hormone stimulates the growth of ovarian follicles in the ovary before the release of an egg from one follicle at ovulation.
LHtriggers ovulation and development of the corpus luteum.
EstrogenThey play an essential role in the growth and development of female secondary sexual characteristics, such as breasts, pubic and armpit hair, and the regulation of the menstrual cycle and reproductive system
FSH and LH working together
FSH stimulates the ovarian follicle, causing an egg to grow. It also triggers the production of estrogen in the follicle. The rise in estrogen tells your pituitary gland to stop producing FSH and to start making more LH. The shift to LH causes the egg to be released from the ovary
Explain three disorders of each reproductive system.MALE
orchitisinflammation infection of the testis due to diseases like mumps, can be severe that the male is sterile
prostatitisinflammation or infection of the prostate
Prostate cancerIf your bladder feels like you have to go, but you cant. You need your prostate checked. If it feels like a knuckle you have cancer, but if it feels like a your nose you're okay
epididymitisinflammation or infection due to bacteria or virus=====
Explain three disorders of each reproductive system.FEMALE Uterine cancerIs detected by the papanicolaou or PAP smear. A hysterectomy is usually done and chemotherapy is administered
EndocervicitisIs the inflammation of the mucous membrane lining the cervix generally by a bacteria infection.
Uterus Fibroid tumora tumor composed of fibrous connective tissue. SalpingitisIs an inflammation of the fallopian tubes that can cause scarring and is one of the major reasons for sterility.
>It is usually caused by bacterial infections, gonorrhea being the main cause.
endometriosisan infection (sometimes cancerous) of lining of the fallopian tubes and uterus needs to be removed
Cervix cancerA malignant tumor of the lowermost part of the uterus (womb) that can be prevented by PAP smear screening and a HPV vaccine
>There may be no symptoms. In a few cases, there may be irregular bleeding or pain.
List three major STD's diseases and give their symptoms.
SyphilisA bacterial infection usually spread by sexual contact that starts as a painless sore.
The first stage involves a painless sore on the genitals, rectum, or mouth. After the initial sore heals, the second stage is characterized by a rash. Then, there are no symptoms until the final stage which may occur years later. This final stage can result in damage to the brain, nerves, eyes, or heart.
ChlamydiaA common sexually transmitted infection that may not cause symptoms.
Many who have chlamydia don't develop symptoms, but they can still infect others through sexual contact. Symptoms may include genital pain and discharge from the vagina or penis.
GonorrheaA sexually transmitted bacterial infection that, if untreated, may cause infertility.
Symptoms include painful urination and abnormal discharge from the penis or vagina. Men may experience testicular pain and women may experience pain in the lower belly. In some cases, gonorrhea has no symptoms.
Explain the stages of early embryonic development starting with the fertilized egg and ending with a fetus
Day 20;the neural tube is closed failure of this to happen will result in and exposed spinal cord and paralysis often called spina bifida . If it occurs the higher level of only a brain stem. , the proportion of the brain is responsible of automatic body functions like heart beating and breathing.
Day 22:the heart starts beating
Day 34:the lips fuse , the two palates must come together . If this does not happen bilateral cleft lip and palate.
Day 50:hands, feet, arms, and legs develop, deformities can result in trauma or lag time. End of ninth week:form is now a fetus and no longer an embryo
Explain the process for the following reproductive technologies: Amniocentesis the sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus.
Explain the process for the following reproductive technologies: Gestational Surrogate
A woman who carries a pregnancy and gives birth to a child for another woman or couple. For a woman to serve as a gestational carrier, an embryo (created by the process of in vitro fertilization) is implanted in her uterus
Explain the process for the following reproductive technologies: In Vitro Fertilization
is an assisted reproductive technology commonly referred to as IVF. IVF is the process of fertilization by extracting eggs, retrieving a sperm sample, and then manually combining an egg and sperm in a laboratory dish. The embryo(s) is then transferred to the uterus.
Explain the process for the following reproductive technologies: Savior sibling refers to a baby that is created using in vitro fertilization (IVF) that was screened during the process using Preimplantation Genetic Diagnosis (PGD) to act as a donor match for a child who already exists and is sick in some way
List the three principles of teratology. (Teratogenicity)
1.Teratogenicitythe agent the specificity of the teratogen to the resultant abnormalities
2.Fetal susceptibility the hereditary predisposition of the fetus to be affected by the teratage (large G box)
3.Period of vulnerability the time when a fetus would be more susceptible to the teratogen
List the three major types of environmental teratogens and give two examples of each.
Radiation
high doses of radiation that a woman would be exposed to the therapeutic treatment of cancer or in unshielded occupation would cause many teratogenic effects such as early fetal wastage,microcephaly, skeletal malformations and mental retardation even develop leukemia later in childhood.
List the three major types of environmental teratogens and give two examples of each.
Maternal infections
Cytomegalovirus infection is a common herpesvirus infection with a wide range of symptoms: from no symptoms to fever and fatigue (resembling infectious mononucleosis) to severe symptoms involving the eyes, brain, or other internal organs. Herpes simplex virus 1 and 2, also known as human herpesvirus 1 and 2, are
two members of the herpesvirus family, Herpesviridae, that infect humans. Both HSV1 and HSV2 are present and contagious
ToxoplasmosisA disease that results from infection with the Toxoplasma gondii parasite.
List the major types of environmental teratogens and give two examples of each. Drugs,alcohol, Androgenic,Anticonvulsants, Antitumor, Antibiotics and Thalmadohide
alcoholInfants born to alcoholic mother exhibit prenatal and postnatal retardation,mental retardation and microcephaly,post palpebral, fissures, small chin, joint abnormalities and congenital heart disease most common in infants.
ThalmadohideLenz estimated that 7000 infants were malformed by thamdohide. A characteristic feature of thalmaldohide is meromelia (seal like limbs) but malformations range from complete absence of limbs, rudimentary limbs to short limbs.
The lithium ion . This ion to too many mental patients to control some mental disorders
DrugsRelatively only a few drugs have been positively implicated to to teratogenic agents. the frequency of malformations are small.
Androgenic (steroids) agentsthe administration of progesterone to prevent abortions gas produced masculinization of female fetuses. Oral contraceptives contain progesterone and estrogen taken the early stages of unrecognized pregnancy are strongly suspected to be teratogenic.
This infants seem to exhibit VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities
AnticonvulsantsThere is a strong evidence that trimethadione and paramethadione may cause fetal dysmorphia, cardiac defects, cleft palate, and intrauterine growth retardation.
Antitumor drugsTumor inhibiting drugs are highly teratogenic, Treatment of folic acid antagonists during the embryonic period usually results in early death of the embryos. 30 percent of those that survive until birth are malformed.
AntibioticsTetracycline therapy during the second of the third trimester of pregnancy may cause discoloration of the teeth and cause distortion of bone growth. deafness has been reported in infants of mothers who have been treated to high doses streptomycin.
Penicillin has proved to be harmless to the human embryo
List the three germ layers of a developing blastocyst and some of the organs they are responsible for
endodermthe innermost layer of cells or tissue of an embryo in early development, or the parts derived from this, which include the lining of the gut and associated structures.
the interior linings of two tubes in the body, the digestive and respiratory tube. the lining of the follicles of the thyroid gland
mesodermthe middle layer of an embryo in early development, between the endoderm and ectoderm.
develops into skeletal and muscle tissues, the notochord, blood vessels, dermis, and connective tissues
ectodermthe outermost layer of cells or tissue of an embryo in early development
develops into parts of the skin, the brain and the nervous system=====
List the four organs or organ systems that can be affected by teratogens until the end of gestation.
1.Central nervous system
2.Eyes
3.Ears
4.External genitalia
Explain the functions of the following endocrine glands:Pancreas (islet cells) (problems) (Diabetes)
Is an important organ in our body as it functions in releasing certain enzymes that help in digestion of food. The pancreatic juices help in absorption of the essential nutrients in the body. The hormone insulin is also produced by the Islet of langerhans of the pancreas. It helps in the metabolism of carbohydrates.
Problems are mostly caused by inflammation or enlargement of the pancreas other causes are alcohol,cigarette smoking,drugs,gallstones and injury of the pancreas.
Diabetes occurs when there is no production of insulin from the pancreas=====
Explain the functions of the following endocrine glands:Pituitary (GH),(TSH), (ADH),(LH) and (FSH)
A tiny gland is a tiny organ found at the base of the brain. As the "master gland" of the body, it produces and secretes many hormones that travel throughout the body, directing certain processes stimulating other glands to produce different types of hormones. the pituitary gland makes these types of hormones.
Growth hormones (GH)GH stimulates growth in childhood and is important for the maintaining a healthy body composition and wellbeing in adults. In adults it is important for maintaining muscle mass as well as bone mass.
Thyroid stimulating hormone (TSH)TSH stimulates the thyroid gland, which regulates the body's metabolism, energy, growth and nervous system activity. Antidiuretic hormone (ADH)ADH is also called vasopressin, regulates water balance, if this hormone is not released properly, it can lead to too little hormone (called diabetes insipidus.
Luteinizing hormone (LH)LH regulates testosterone in men and estrogen in women
Folliclestimulating hormone (FSH)FSH promotes sperm production in men and stimulates the ovaries to enable ovulation in women. Luteinizing hormone and follicle stimulating hormone work together to cause normal function of ovaries.
Explain the functions of the following endocrine glands:Thyroid (Hyperthyroidism and Hypothyroidism)
Produces the hormone calcitonin, which may contribute to bone strength by helping calcium to be incorporated into bone.
Hypothyroidism is when the thyroid gland becomes incapable of producing enough hormone
symptoms are usually a slowed down metabolism and can include fatigue, weight gain, and depression, among others
Hyperthyroidism is when the thyroid gland produces too much thyroid hormone. autoimmune condition where antibodies target the gland and causes it to speed up hormone production
Explain the functions of the following endocrine glands:Adrenal (Androgens and Catecholamines)
two smalls structures that sit on top of the kidneys. They make many hormones that are critically important to health and well being.
The adrenals are divided into an outside layer called the cortex and inner layer called the medulla.
It makes steroid hormones derived from cholesterol and it makes
catecholamines (adrenaline)
Androgenshormones promote growth of underarm and pubic hair in both males and females.
An excess of androgens in females can cause excess facial hair and body hair, acne, thinning of scalp hair
CatecholaminesThese hormones adrenaline and noradrenaline are the fight or flight hormones.
In stressful situations, their output is increased and leads to rapid pulse, higher blood pressure, shakiness, sweating, pallor or blanching of the skin.
Explain the cause of Seasonal Affective Disorder (SAD)
Seasonal affective disorder (SAD) is a type of depression that's related to changes in seasons — SAD begins and ends at about the same times every year. If you're like most people with SAD, your symptoms start in the fall and continue into the winter months, sapping your energy and making you feel moody. Less often, SAD causes depression in the spring or early summer.
>Treatment for SAD may include light therapy (phototherapy), medications and psychotherapy.
Explain the cause and effect of diabetes.
diabetes can cause long term damage to our body. The long term damage is commonly referred to as diabetic complications. Diabetes affects our blood vessels and nerves and therefore can affect any part of the body. However, certain parts of our body are affected more than other parts.
Explain the main functions of IgG, IgM,IgD and IgA.
IgGmost common, later to most internal infections. It is specific to the infection) (takes time to respond to infections)
IgMlargest, first ot respond to the infection (not specific to infection)
IgA.found on the body surfaces like mouth, nose and digestive area IgDRemembers infections need for normal memory B cell formation. (remembers infections)
Explain the bodies immune response to attack by bacteria
Step 1:Activated complement proteins form holees in the cell wall and membrane of the bacterium.
Step 2: The bacteria can no longer maintain a constant internal environment. water enters the oil.
Step 3:the bacterium bursts
Explain how antibiotics work
are medications that destroy or slow down the growth of bacteria. They include a range of powerful drugs and are used to treat diseases caused by bacteria. Infections caused by viruses, such as colds, flu, most coughs, and sore throats cannot be treated with antibiotics.
List and explain the three ways bacteria can resist an antibiotic. bacteria change in some way that reduces or eliminates the effectiveness of drugs, chemicals, or other agents designed to cure or prevent infections. The bacteria survive and continue to multiply causing more harm. Bacteria can do this through several mechanisms.
Explain how the misuse of antibiotics can be very detrimental. it can cause the bodies bacteria to be able to change so the infection is immune to the antibiotic that is supposed to get rid of it
Explain how antiviral drugs work
Fight against viruses; they don't fight bacteria like antibiotics do. The two antivirals used as flu treatments are oseltamivir phosphate (Tamiflu) and zanamivir (Relenza)
Explain why memory Bcells are so important and how a vaccine can help to produce them.
cells of the immune system that make antibodies to invading pathogens like viruses. They form memory cells that remember the same pathogen for faster antibody production in future infections.
Explain the main function for the Human Lymphocyte Antigen (HLA). to serve as recognition molecules in the initiation of an immune response. HLA antigens on specialized immune cells present peptides from foreign substances (e.g. viruses and bacteria) to effector cells of the immune system.
Explain the function of a monoclonal antibody and how it can be used They can then make many copies of that antibody in the lab. These are known as monoclonal antibodies (mAbs). Monoclonal antibodies are used to treat many diseases, including some types of cancer
Name the functions of the skeletal system.
supports the body.
facilitates movement.
protects internal organs.
produces blood cells.
stores and releases minerals and fat
List the 4 kinds of body joints and give an example of each.
Hinge, ex interphalangeal joints fingers and toes.
Ball and socket, ex. hip and shoulder joints.
Pivot, ex. atlantoaxial joint between the atlas and axis neck.
Gliding ( "Condyloid" joint), ex. between radius, scaphoid and lunate bones wrist.
identify the functions of tendons and ligaments.
are soft collagenous tissues. Ligaments connect bone to bone and tendons connect muscles to bone. Ligaments and tendons play a significant role in musculoskeletal biomechanics. They represent an important area of orthopaedic treatment for which many challenges for repair remain.
Explain how to treat a sprain (RICE)
As soon as possible after an injury, such as a knee or ankle sprain, you can relieve pain and swelling and promote healing and flexibility with RICERest, Ice, Compression, and Elevation. Rest
Identify the 10 major bones of the body
1. Femur The head of the femur articulates with the acetabulum in the pelvic bone forming the hip joint, while the distal part of the femur articulates with the tibia and kneecap forming the knee joint. By most measures the femur is the strongest bone in the body. The femur is also the longest bone in the human body.
2. Fibula The fibula or calf bone is a leg bone located on the lateral side of the tibia, with which it is connected above and below. It is the smaller of the two bones, and, in proportion to its length, the slenderest of all the long bones.
3. Tibia the tibia is one of two bones in the lower leg, the other being the fibula, and is a component of the knee and ankle joints.
4. Patella known as the kneecap, is a thick, circulartriangular bone which articulates with the femur
5. Humerus is a long bone in the arm or forelimb that runs from the shoulder to the elbow. It connects the scapula and the two bones of the lower arm, the radius and ulna, and consists of three sections.
6. Radius one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna.
7. Ulna ulna is the longer, larger and more medial of the lower arm bones. 8. Clavicle The collarbone is a large doubly curved long bone that connects the arm to the trunk of the body. Located directly above the first rib it acts as a strut to keep the scapula in place so that the arm can hang freely.
9. Scapula known as shoulder blade or wing bone is the bone that connects the humerus (upper arm bone)
10. Sternum or breastbone is a long flat bone shaped like a necktie located in
the center of the chest. It connects to the ribs via cartilage, forming the front of the rib cage, and thus helps to protect the heart, lungs, and major blood vessels from injury.
Explain the best way to avoid Osteoporosis
Ensure a nutritious diet and adequate calcium intake.
Avoid undernutrition, particularly the effects of severe weightloss diets and eating disorders.
Maintain an adequate supply of vitamin D.
Participate in regular weightbearing activity.
Avoid smoking and secondhand smoking.
Avoid heavy drinking.
