SAC360 Chapter 12 genetic diseases and other inborn errors
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This document discusses genetic diseases and inborn errors. It covers environmental teratogens that can cause genetic diseases, such as infectious pathogens, chemicals, drugs and alcohol. It also discusses genetic diseases caused by chromosomal abnormalities and Mendelian genetics. The document then covers newborn screening programs that test for metabolic abnormalities in newborns, as well as carrier screening in high-risk populations. Prenatal diagnosis and the ethics around diagnosing diseases like Down syndrome are also examined. The role of the Human Genome Project and genomic medicine is discussed. Guidelines for genetic screening programs are presented.
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CHAPTER 5Epidemiologic Principles and MethodsCopyrig
CHAPTER 5
Epidemiologic Principles and Methods
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com.
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Definition of Epidemiology
Epidemiology is defined as “the study of the distribution and determinants of disease frequency in human populations.”
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Step 1: Define the Disease
Death is easy to determine.
A death certificate states cause of death.
A blood test or stool culture is needed to verify a diagnosis of certain diseases.
Some diseases are hard to define.
EMS and SARS
Sometimes a definition changes as more is learned.
AIDS
Other health outcomes include injuries and risk factors.
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Disease Frequency
Count the number of people with a disease and relate that to the population at risk (PAR).
PAR (denominator) may be the total population or exposed population, or one gender or age group.
PAR often comes from a census.
Two ways to measure frequency are:
Incidence, the number of new cases
Prevalence, the number of existing cases
Incidence is used for studying causes of disease.
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Disease Frequency (cont.)
Prevalence depends on incidence and prognosis.
If causes or risk factors increase, incidence and prevalence increase.
If ability to diagnose increases, incidence and prevalence appear to increase.
Prevalence rates are most useful in assessing the societal impact of a disease and planning for healthcare services.
Mortality rates are used to measure frequency for diseases that are often fatal.
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Distribution of Disease
Who:
Sex, age, occupation, race, and economic status
When:
Looks for disease frequency over time: Season, year (long-term trends), elapsed time since an exposure (epidemic curve)
Is crucial in tracking an outbreak of infectious diseases such as hepatitis and legionellosis
Where:
Neighborhood (e.g., clusters), latitude (climate), urban vs. rural, national variations
Looks at comparisons of disease frequency in different countries, states, counties, or other geographical divisions
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Determinants of Disease
Why is distribution as it is?
We can make inferences from distribution.
Epidemiologists usually speak of risk factors not causes.
Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com
Human Population
Epidemiology studies human population, usually using observational rather than experimental methods.
Biomedical approach uses animal models to investiga ...
Revised slideshow morning session for e circulation june 13th
This document summarizes a presentation on policies from conception to age 2 given by Sally Burlington of the Department for Education. The key points are:
1) The period from conception to age 2 is the most crucial phase of development, as this is when 80% of brain development occurs and early relationships shape lifelong outcomes.
2) Poor support during this early stage can have lifelong negative impacts on outcomes, including poor attachment, lower educational achievement, poorer health, and higher criminality.
3) Burlington reported on a recent government study of policies to better support families from conception to age 2, noting the importance of high-quality parenting support and early education programs during this critical window.
SAC360 Chapter 7 statistics
This document is from a chapter about statistics and making sense of uncertainty. It discusses how statistics is used to analyze data and extract information to describe population health. Statistics allows translation of data into information about causes, effects, risks and cures. It also discusses concepts like probability, screening tests, rates, risk assessment and cost-benefit analysis.
Child Protection and Abuse .pptx
This document summarizes a lecture on child safeguarding given by Hasanein H. Ghali at the University of Baghdad College of Medicine. It discusses key aspects of child protection including types of abuse, prevalence, and the duty of health professionals to protect children from harm. The lecture covers physical, emotional, and sexual abuse as well as neglect and fabricated illness. It also provides an example of a high-profile child abuse case in the UK and reviews the UN Convention on the Rights of the Child.
Genetics research-template
Designer babies refers to the genetic engineering of embryos to produce children with certain desirable traits. The document presents arguments for and against designer babies. Proponents argue it could help prevent genetic disorders and allow parents to choose traits like appearance and intelligence. Opponents counter that it is unnatural, could harm personality development, lead to unfair genetic discrimination, and has unknown long term effects. The document includes student comments against designer babies and concludes that nature should determine a person's traits.
Genetic Engineering for Cure
The document discusses genetic engineering and its potential benefits and risks. It provides examples of how genetic engineering has helped treat Parkinson's disease, breast cancer, and diabetes by identifying genes associated with these diseases. While research has potential to cure illnesses, it also raises ethical issues regarding who has access to treatments and how genetic information is used. The conclusion argues that further funding genetic research could help eliminate diseases, but personal genetic data should remain private.
Designer babies
The document discusses designer babies and genetic engineering. It provides information on how designer babies are created through IVF and genetic testing of embryos. While there are some benefits like using genetic engineering to help a sick sibling, there are also many risks. These risks include mutations and diseases from gene alterations, taking away a child's autonomy, and leading to unfair advantages or discrimination. Overall, the conclusion is that the risks of creating a designer baby are greater than the potential benefits.
3 forfar-full classproject
The document discusses several determinants of health including heredity, environment, culture, media, and technology. It provides definitions and discusses the level of control for each determinant. Some key points made include that heredity has about 5 out of 10 control and can be influenced by treatments. The environment has less control but can be influenced by one's friends and activities. Culture has a rating of 5 out of 10 for control as home culture is harder to influence than choices outside the home. Media is rated as having 8 out of 10 control as people can control what they post but not where it spreads. The effects of each determinant on health are also discussed briefly.
Pre marital genetic counseling
Genetic counseling provides information about inherited disorders and allows people to make informed choices about reproduction. It identifies carriers of genetic mutations and assesses the risks of parents passing diseases to children. Counseling addresses factors like family history, consanguinity, environmental exposures, nutrition, and lifestyle that can impact genetic risks. It recommends preventive measures like avoiding smoking, maintaining a healthy diet and exercise, immunizations, and genetic screening for couples at risk of passing on diseases.
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This document summarizes children's mental health issues in Racine, Wisconsin. It finds that many children do not receive needed mental health services. In Wisconsin, very low percentages of children with serious emotional disabilities receive public mental health services, which are among the lowest rates in the Midwest. The quality of public services, as rated by parents, is also among the lowest in the nation. Access to services varies greatly, with minority children, those in poverty, and those with public insurance less likely to have their mental health needs met. The document examines national data on the prevalence of children's mental health issues and risk factors.
B1 lesson part two
The document discusses a lesson plan that covers genetic screening and testing. Over the next 12 lessons, students will learn about genetics topics like inherited disorders, genetic testing, screening, and the ethical issues around how genetic information is used. One lesson focuses on genetic screening and testing, including how genetic information could be misused by insurance companies and discussed the arguments for and against using DNA profiles to determine insurance costs.
Learning & Developmental Disabilities Links to Toxic Chemicals
Learning & Developmental Disabilities Links to Toxic Chemicals - Resources for Healthy Children www.scribd.com/doc/254613619 - For more information, Please see Organic Edible Schoolyards & Gardening with Children www.scribd.com/doc/254613963 - Gardening with Volcanic Rock Dust www.scribd.com/doc/254613846 - Double Food Production from your School Garden with Organic Tech www.scribd.com/doc/254613765 - Free School Gardening Art Posters www.scribd.com/doc/254613694 - Increase Food Production with Companion Planting in your School Garden www.scribd.com/doc/254609890 - Healthy Foods Dramatically Improves Student Academic Success www.scribd.com/doc/254613619 - City Chickens for your Organic School Garden www.scribd.com/doc/254613553 - Huerto Ecológico, Tecnologías Sostenibles, Agricultura Organica www.scribd.com/doc/254613494 - Simple Square Foot Gardening for Schools - Teacher Guide www.scribd.com/doc/254613410 - Free Organic Gardening Publications www.scribd.com/doc/254609890 ~ nhlda.org
Ques-1 Prenatal diagnosis has both positive and potentially negativ.pdf
Ques-1: Prenatal diagnosis has both positive and potentially negative consequences. While it is
most often used to detect serious problems with the fetus, the technology can also be used
potentially to select embryos based on sex, appearance, Where do you think we should draw the
line in allowing parents to use prenatal diagnosis
Answer:
Genetic testing is performed for prenatal diagnosis to know any chromosomal or genetical -
inherited abnormalities of implanted human embryo. It has positive consequence, as some
couples would like to avoid getting a baby with genetic abnormalities. However, there are
negative consequences such as various \"ethical and moral issues of prenatal diagnosis as
explained below. Therefore, it is crucial to draw a line when conducting prenatal diagnosis
finally a couple musty get legal permissions to undergo prenatal diagnosis.
Screening tests for genetic issues can be performed in the first trimester, second trimester or both
trimesters. Carrier testing is also an option performed prior to or during pregnancy. Carrier
testing provides information as to whether one or both parents are carriers for certain inherited
disorders. The results of these tests are used to determine an appropriate plan of care for the
patient. Genetic testing of the fetus and the parents offers both opportunities and ethical
challenges. As a Registered Nurse, you need to be aware of your own feelings in order to provide
non-biased professional support.
Implications of genetic testing:
Genetic testing is the pre-implantation technology is now currently using in detecting and
screening embryo in order to assess whether the resultant embryos from fertilization are normal
or abnormal genotypically. A registered nurse must advice & support to a couple seeking
guidance about the genetic testing because genetic screening has various ethical and moral
aspects. The major rising ethical challenge is the connection between the pre-selection of
embryos based on meticulous genetic analysis followed by rising discrimination of disabled
people. This ethical problem is associated with selection of future children based on their low
levels of disabilities and abnormalities.
Ethical challenges with preimplantation of genetic testing or diagnosis (PGD):
1. PGD allows embryo selection after pregnancy or even before initiation of pregnancy.
However, this procedure is very controversial and faces a variety of moral ethics that are
completely relies upon moral status of embryo and prenatal diagnosis in selecting progeny
without the use of abortion (medical issue).
2. The major rising ethical challenge is the connection between the pre-selection of embryos
based on meticulous genetic analysis followed by rising discrimination of disabled people, a
psychological moral issue. This ethical problem is associated with selection of future children
based on their low levels of disabilities and abnormalities. A clinic should have license primarily
to perform preimplantatio.
Prescription Pain Killers,The Latest Threat to Child Welfare
1) The opioid epidemic puts many children at risk of abuse and neglect as parents struggling with addiction may neglect their children or expose them to dangerous situations. The number of children being removed from homes due to parental drug abuse has increased significantly in many states.
2) Prescription drug monitoring programs collect data on opioid prescriptions but it is often not used to its full potential. Linking this prescription data to child welfare records through analytics could help caseworkers identify at-risk children and families earlier.
3) Specific analytics approaches discussed include alerts when a prescription is written for a child in state custody, alerts when a parent is visiting multiple doctors and pharmacies to obtain drugs, and risk scoring to predict higher risk families
Feldman 8e ch2.1
This document discusses genetics and prenatal development. It explains that at conception, humans receive 23 pairs of chromosomes containing around 25,000 genes, half from each parent. These genes determine traits and can be dominant or recessive. While genes influence aspects of development, both genetic and environmental factors interact to shape phenotypes. The document also examines twin studies, genetic disorders, the role of nature and nurture in areas like personality and psychological disorders, and how the interaction of heredity and environment impact development.
Theory Two Prenatal Exposure to Drugs - The BeginningOne of .docx
Theory Two
Prenatal Exposure to Drugs - The Beginning
One of the largest groups of at-risk children are those who were prenatally exposed to their mother's drug and alcohol abuse during pregnancy. Commonly abused drugs of choice include heroin, crack-cocaine, marijuana, and prescription drugs such as tranquilizers and stimulants. Substance exposed infants experience after-effects that can slow development as well as psychological and behavior problems. In other words, these children are virtually doomed from birth unless proper diagnosis and intervention aid them in their development as children.
Intervention programs for mothers and their babies can be challenging and very expensive. Some of the drug babies are placed in foster care, which is also costly with dwindling resources of foster care families willing to take on these cases. Add to this the costs associated with special education and other family social services, and the aftercare costs for these youths can be astronomical.
Alcohol Abuse
Another group, and by far the most common, of at-risk children headed for negative developmental outcomes are those whose parents abused alcohol. Alcohol is so common in American society these days that it is not considered a drug. Beer, wine, and liquor are all central nervous system depressants and will have lasting effects on a developing fetus. Infants exposed to this dilemma are at a greater risk in developing behavior problems and poor social skills that can persist into childhood.
Children whose parents abuse alcohol are also at a higher risk for family related problems such as incest, child neglect and abuse, and domestic abuse. Children victim to these behaviors are ashamed of their families and tend to keep these behaviors a secret from other adults such as counselors and teachers. Some of the associated behaviors by children affected by family problems may include:
· Truancy
· Failure in school
· Lack of friends and withdrawal from classmates
· Delinquent behavior - acting out with violence
· Abuse of drugs or alcohol themselves
· Depression or suicidal thoughts or behaviors
Again, early intervention to break this cycle of family behaviors can give these children a better chance at life in becoming successful and productive adults.
Theory one
Role of Genetics
One of the biggest questions facing behavioral scientists today is whether genetics plays a role in formulating a propensity for criminal behavior and specifically for juveniles, delinquent behavior. While many studies have shown and even identified specific genes that have a tendency toward aggressive behavior, social scientists believe that social influences can either heighten the effects of these genes or can hinder their effectiveness.
The gene is the basic unit of heredity. Each gene either by itself or in combination with others controls specific characteristics associated with each individual. Sets of genes determine the nature and amount of growth of every portion ...
Snj coronavirus and send education final
During most of June 2020, Special Needs Jungle offered a survey of to our readers, to ask them about some of the aspects of support their children with special educational needs and disabilities (SEND) had received during lockdown. This period was over two months after schools had closed and included the period when all children with EHCPs and selected year groups in primary should have been returning. It also included some specialist colleges that were allowed to reopen from June 15th.
Find the main article here: https://www.specialneedsjungle.com/coronavirus-send-education-survey/
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SAC360 Chapter 12 genetic diseases and other inborn errors
- 1. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com. CHAPTER 12 Genetic Diseases and Other Inborn Errors
- 2. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Environmental Teratogens Infectious pathogens – Syphilis, rubella, toxoplasmosis Environmental chemicals – Mercury Drugs – Accutane, thalidomide, hormones Alcohol Cocaine and heroin
- 3. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Genetic Diseases Chromosomal abnormalities – Down syndrome Mendelian genetics – Autosomal dominant – Autosomal recessive – X-linked
- 4. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Genetic Diseases New mutations may cause genetic diseases. Severity of some genetic conditions may be affected by environment. – Anencephaly and spina bifida are examples. – Folic acid supplements can reduce risk. Genes influence susceptibility to adulthood diseases. Mental disorders are believed to be genetic.
- 5. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Newborn Screening There is a public health mandate of preventing death and disability from many genetic diseases. We can test drops of blood from newborns for metabolic abnormalities. All newborns in the U.S. are screened for at least two conditions, PKU and hypothyroidism. States vary in conditions screened for. Most conditions are autosomal recessive. Early diagnosis can prevent or reduce permanent damage. Some conditions are complicated to test for: – E.g., cystic fibrosis. CDC recommends screening for profound hearing loss.
- 6. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Carrier Screening Screen for recessive genes in high-risk populations: – Prenatal screening for HIV – Tay-Sachs disease in Jews • Screening is encouraged by Jewish leaders. – Sickle-cell disease in African Americans • Screening program in the 1970s was misunderstood and poorly conducted.
- 7. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Prenatal Diagnosis Down syndrome Anencephaly and spina bifida Only treatment may be abortion.
- 8. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Genomic Medicine Human Genome Project Many potential benefits Many ethical dilemmas Cancer genes – BRCA1 and BRCA2 Targeted therapies Single-nucleotide polymorphisms – HapMap
- 9. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Guidelines for Genetic Screening Screen newborns only when it clearly benefits the newborn, diagnosis can be confirmed, and when treatment and follow-up are available. Carrier identification should be voluntary and confidential, and it should include counseling. Include education and counseling with prenatal diagnosis. Tests should be high quality and FDA evaluated. – More government oversight of laboratory proficiency is needed. Provide more genetics education to the public.
- 10. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 1 What are the ethical issues involved with prenatal diagnosis of each of the following genetic diseases: Down syndrome, anencephaly, and Huntington’s disease?
- 11. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 2 From an ethical perspective, how is newborn screening different from screening people in certain racial or ethnic groups for recessive genes?
- 12. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 3 What would be the benefits and drawbacks of including tests for BRCA1 and BRCA2 in newborn screening programs?
- 13. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 4 Visit the website of the CDC Office of Public Health Genomics, www.cdc.gov/genomics. Review the most recent Weekly Updates. What issues are hot in the area of genetics and disease?
- 14. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 5 Because genes affect people’s risk for many diseases, the Surgeon General is encouraging Americans to learn about their family’s health history. Visit the Family History Initiative website, www.hhs.gov/familyhistory. You can download a form for recording your family’s health history. Do you think this information will be helpful to you in understanding your health risks? Can you think of any drawbacks to trying to collect the information?
- 15. Copyright © 2021 by Jones & Bartlett Learning, LLC an Ascend Learning Company. www.jblearning.com Discussion Question 6 Visit the website of the National Human Genome Research Institute, www.genome.gov. What is the ELSI program? What are some of the ethical, legal, and social issues the program is studying?