This document provides an introduction to pediatric genetics for healthcare interpreters. It will explain basic genetics concepts, reasons for pediatric genetic evaluations, the value of genetic testing and counseling, types of genetic tests, how to understand test results, and the roles of the pediatric genetic team. Key concepts covered include that genetics studies heredity and how traits are passed down; genetic information is contained in DNA found in chromosomes, and is passed from parents to children through eggs and sperm; and genetic changes can occur at the chromosome or gene level and may be inherited, de novo, or somatic, and can be benign, deleterious, or pathogenic.
This presentation explores the different types of twins, the biological processes in which the different types of twins are formed, and outlines facts and statistics regarding them.
Parental testing is considered one of the best ways to establish a biological parent child relation between individuals
Do you believe that your partner is currently
being unfaithful?
A paternity test can help a man who has donated sperm specifically to help a couple conceive a child. Putative father has spent several weeks or months on tracking down their former partner who now has a child, a paternity test can confirm if they are related. There are several website related with paternity test, one of them is paternitytest.co.uk where you can get more solutions related with paternity test.
Lukas P, Organ Cloning, period 3, 11 slides (first slide blank) - Please disregard my previous upload. I uploaded wrong version. The correct version is called Organ Cloning Project Revised.
This presentation explores the different types of twins, the biological processes in which the different types of twins are formed, and outlines facts and statistics regarding them.
Parental testing is considered one of the best ways to establish a biological parent child relation between individuals
Do you believe that your partner is currently
being unfaithful?
A paternity test can help a man who has donated sperm specifically to help a couple conceive a child. Putative father has spent several weeks or months on tracking down their former partner who now has a child, a paternity test can confirm if they are related. There are several website related with paternity test, one of them is paternitytest.co.uk where you can get more solutions related with paternity test.
Lukas P, Organ Cloning, period 3, 11 slides (first slide blank) - Please disregard my previous upload. I uploaded wrong version. The correct version is called Organ Cloning Project Revised.
To Clone or not to Clone The Ethical Question Joseph Farnsw.docxturveycharlyn
To Clone or not to Clone: The Ethical Question
Joseph Farnsworth
A couple that had been married for only two years was in a terrible car accident. The
wife walked away with a few cuts and bruises. The husband, however was unconscious
when the paramedics arrived. He went into a coma shortly after arriving at the nearby
hospital. He came out of the coma but was never to be the same again. It turns out that
when he was in the accident he had severe head trauma, and would be a vegetable the rest
of his life. He could not take part in the reproduction of children. The wife is now
distraught because they will never have children together. She heard about the possibility
of cloning and believes that it is the only way that she will ever have children. Is it so?
Introduction
The ethics of human cloning has become a great issue in the past few years. The
advocates for both sides of the issue have many reasons to clone or not to clone. This is
an attempt to explore the pros and cons of human cloning and to provide enough
information of both sides of the arguments in order for the reader to make their own
informed decision on whether human cloning is ethical or not. Cloning will first be
defined. Then a brief explanation of why questions concerning cloning humans have
arisen will be presented. Some things cannot be known for sure unless it is tested, i.e.,
human cloning is allowed. Followed by that, a discussion of the facts and opinions that
support cloning will be presented and then the same against cloning. Please remember
that not all of this has proven true nor is able to be proven yet, but has simply been
argued as a scientific hypothesis. Finally, my own personal opinion will be stated.
Defining Human Cloning
When speaking of human cloning, what is meant? Different groups and organizations
define it differently. To use a specific definition, the American Medical Association
(AMA) defined cloning as “the production of genetically identical organisms via somatic
cell nuclear transfer. „Somatic cell nuclear transfer‟ refers to the process which the
nucleus of a somatic cell of an existing organism is transferred into an oocyte from which
the nucleus has been removed” (Council on Ethical and Judicial Affairs 1). In other
words, cloning is the method of produce a baby that has the same genes as its parent.
You take an egg and remove its nucleus, which contains the DNA/genes. Then you take
the DNA from an adult cell and insert it into the egg, either by fusing the adult cell with
the enucleated egg, or by a sophisticated nuclear transfer. You then stimulate the
reconstructed egg electrically or chemically and try to make it start to divide and become
an embryo. You then use the same process to implant the egg into a surrogate mother
that you would use with artificial insemination. (Eibert)
However, many groups have used a broader definition of cloni ...
Pat Levitt: Neurodevelopmental Disorder Heterogeneity, Brain Development and ...Beitissie1
In his lecture, Prof. Pat Levitt describes the great heterogeneity of the brain, which makes people different from each other and is a significant challenge to treating people with disabilities.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
2. What will you learn?
At the end of this presentation, you’ll be able to:
•Explain some basic concepts in genetics.
•Give three reasons patients are referred for pediatric
genetic evaluation and counseling.
•Describe the value of genetic counseling and testing.
•Describe four categories of genetic tests.
•Understand test results.
•Explain the work of the pediatric genetic team.
•Describe what a family can expect in a pediatric genetics
evaluation and counseling session.
2
4. What is “genetics”?
Genetics is the field of science and medicine that
studies the biological basis of heredity (how traits are
passed from one generation to the next) and how these
instructions for life are used by all living organisms.
4
7. How is genetic information passed on?
7
Humans have 23 pairs of
chromosomes in every cell.
The egg and sperm are
special; they have only one of
each chromosome.
When an egg and sperm come
together, they typically grow
into a child who has two of
each chromosome: one from
Mom, and one from Dad.
http://www.daviddarling.info/childrens_encyclopedia/Genetic_Engineering_Chapter1.html
10. 10
Original sentence
MOVE TO THE LEFT.
Gene Change
MOV
LE TO THE LEFT. MOLE TO THE LEFT.
Gene Reversal
MOVE TO THE LEFT. MOVE TO THE ELFT.
Gene Insertion
MOVIE TO THE LEFT. MOVIE TO THE LEFT.
Gene Deletion
MOVE TO THE LEFT. MOVE TO THEFT.
12. Types of changes
12
1. Inherited genetic changes
(“Your grandpa was just the same.”)
2. De novo genetic changes
(“Now, where did that come from?”)
3. Somatic genetic changes
(“I told you to stay out of the sun!”)
13. 13
But some are
CLINICALLY SIGNIFICANT
(they cause a problem)
Some changes are
BENIGN
(they cause no harm).
So what?
14. Pop Quiz
• What is the function of DNA in our bodies?
• What is a chromosome? What is a gene?
• How many chromosomes does a person typically
have?
• What is a genetic change at the chromosomal
level called?
• What is a genetic change at the gene level called?
• What does it mean if a change is “benign”? How
about “deleterious?” And “pathogenic?”
14
Editor's Notes
Show this slide as participants enter and are seated, and as you do your introduction and review logistics.
There is probably no field of medicine that is growing more quickly than genetics. New breakthroughs in gene mapping and advances in gene splicing technologies are bringing a revolution in how we predict, identify and treat many diseases, even those that up until now have been untreatable. It’s a very exciting time for providers and patients – and also for us interpreters who have to be able to interpret for these appointments!
This course is the second in a trilogy of Interpreting in Genetics courses funded by the American College of Medical Genetics and Genomics with support from HRSA. And this one focuses on interpreting in pediatric genetics. (click)
So, what are we going to learn in this course? Well, this is what we’re aiming for. (click)
At the end of this presentation, you will be able to:(click)
Explain some basic concepts in genetics. (click)
Give three reasons patients are referred for pediatric genetic evaluation and counseling. (click)
Describe the value of genetic counseling and testing. (click)
Describe four categories of genetic tests. (click)
Understand test results. (click)
Explain the work of the pediatric genetic team. (click)
Describe what a family can expect in a pediatric genetics evaluation and counseling session. (click)
So, what is “genetics” anyway? When you hear the word "genetics" what comes to mind? If you can say one or two words you associate with genetics, what would they be? (Elicit a few comments.) (click)
One definition says that genetics is the field of science and medicine that studies the biologic basis of heredity – or rather, how traits are passed from one generation to another -- and how the instructions for life are used by all living organisms. (click)
Let’s start at the cellular level. Basically, cells are the building blocks that make up our bodies, and different cells have different functions. A nerve cell is a little different from a muscle cell, which is different from a white blood cell, for example. But inside every cell are the structures that allow it to process energy, to reproduce, to get rid of waste, and to fulfill its particular function.
But how does the cell know what its particular function is? Whether it’s supposed to be a nerve or a muscle or part of the blood? And how do cells know how to work together? These instructions are all programmed into the cell’s DNA. (click)
Every cell in your body (with the exception of red blood cells) carries in its nucleus your DNA. DNA can be thought of as the instructions that the cells in our bodies use to grow, develop and function.
DNA in the nucleus is all packed tightly into units called chromosomes. If you could stretch out the DNA of a chromosome and look at it through a microscope, it would look like a long ladder that is twisted into a spiral. You may hear this spiral shape referred to as a ‘double helix.’ The rungs are various combinations of four nucleotides called Adenine, Thymine, Cytosine, and Guanine. These are often referred to as A, T, C, and G for short, and these letters spell out the genetic code.
Individual sections of DNA that code for a specific trait or function are called “genes”. So this section here might be the gene that codes for “Brown Hair” and the next section might be a gene that contributes to “Blue Eyes.”
The complete DNA structure, or genome, for a human contains about 3 billion “letters” and about 20,000 genes. These genes make up 23 pairs of chromosomes. (click)
We each receive half our DNA from our mother and half from our father. Here’s how it works.
(click) In each cell, we have 23 pairs of chromosomes. (click) The egg and the sperm are special. Instead of having a pair (that is, two) of each chromosome, they have only one of each chromosome. (click) When the sperm fertilizes the egg, each chromosome from the father joins the matching chromosome from the mother, and now the fertilized egg has, again 46 chromosomes – 23 pairs. (click)
That fertilized egg has the potential to become a full human being. How does that happen? Well, that one cell copies itself, just like in the picture here, to become two cells. Then it does that again, and again and again. And every time that one cell replicates, it typically makes an exact copy of the entire genetic code on those 23 pairs of chromosomes, so the new cell should have the exact same genetic make-up as the original cell. (click)
Sometimes, though, when the genetic code is being copied to make a new cell, (click) a mistake happens. When it happens down at the level of the genes, it is called a mutation or variant. When the mistake happens at the chromosomal level, it is called a chromosome abnormality. (click)
So, let’s start with genes. A gene can be thought of as a long string of letters that determine a particular trait – like hair color - or that tell the cell to perform a certain function. And when the cell reproduces, the DNA reproduces too, so the new cell has exactly the same genes as the original.
A variant can be thought of as a difference in the sequence of “letters” from what is found in the genetic code of the majority of people. This can happen in many ways. (click) A single letter can be changed, (click) there can be a mix up to the order of the letters, (click) some letters can be added or (click) letters can be deleted. Change in the “letters” of a gene change the instructions the gene carries, just as these changes in the letter order change the meaning of the sentence.
Locating a gene variant is sort of like finding a typo on one page of thick book. It’s hard to find unless you know exactly where to look. (click)
If a gene is like a series of letters that code for a particular word, then a chromosome is sort of like a whole chapter in the book. Just as we can have letters in a word that are changed, added or deleted, altering the word’s meaning, we can also have changes to entire chromosomes. The amount of genetic material we have is very important – that we have 23 pairs of chromosomes, with half from each parent, and with nothing extra or missing. Sometimes, (click) an extra chromosome can be present, or a chromosome can be missing. Or both of a pair of chromosomes can come from only one parent, with none from the other. Or a fragment of a chromosome can be duplicated or extra or deleted. (click)
These changes in the chromosomes and genes fall into three categories.
Some changes are (click) inherited. Let’s say that a woman has a gene mutation associated with breast cancer. That mutation exists in all of her cells, including her ova. If an ovum with the gene mutation for breast cancer is fertilized by a sperm, the resulting embryo will also carry this gene mutation.
Other changes are called (click) “de novo” genetic changes. As the Latin translation of the name suggests, these are “new” genetic changes. For example, a woman might have the normal number of chromosomes -- 46. But then one of her ova is fertilized, and when the cell starts to multiply, perhaps a “mistake” happens, causing the fetus to have cells with 47 chromosomes, or only 45. This is a “de novo” anomaly.
Finally, some changes are acquired during a person’s lifetime. These are called (click) “somatic genetic changes.” For example, exposure to UV rays from the sun can cause two letter “T”s in a gene to fuse together. Then when the gene copies itself, this leads to a mistake in the genetic code. (click)
But, so what? What happens if a little “typo” gets introduced into the genetic code? Or an additional “chapter” gets added to the “book”?
Well, sometimes, (click) nothing. These types of changes are called “benign variants,” which just means that they do not cause harm.
But others are (click) clinically significant – that means that they cause a medical condition. Genetic professionals refer to these changes as “deleterious” or “pathogenic variants.” Just as a change in the letters can mess up a word, changing the meaning of a sentence, genetic changes have the potential to disrupt the function of the gene, causing it to work differently. In the previous example with the sun fusing two “Ts together, it turns out that those “Ts” are supposed to limit cell reproduction. When those “Ts” don’t work right, the cell starts to reproduce without control. And what do we call uncontrolled cell reproduction? Right – cancer. This is why too much exposure to the UV light in sunshine can cause skin cancer.
An entire additional chromosome (which can contain thousands of genes), or the lack of one, can also change how the body develops and functions. And that can be a problem. This is why people are interested in knowing if these genetic changes are present.
So let’s pause here for a short quiz. (click)
Pop quiz! (click)
What is the function of DNA in our bodies?DNA serves as the “instruction book” that tells each cell how to grow, reproduce, die and fulfill its individual function. (click)
What is a chromosome?One of 46 structures in the cell nucleus that are made up of the DNA. (click)
What is a gene?A segment on the chromosome that codes for a particular trait or function. (click)
How many chromosomes does a human being typical have?46, in 23 pairs. (click)
What is a genetic change at the chromosomal level called? A chromosome abnormality. (click)
What is a genetic change at the gene level called?A gene variant or mutation. (click)
What does it mean if a change is “benign”?Not harmful.
What does it mean if a change is “deleterious?”Disease causing.
How about “pathogenic?”Also disease causing. (click)