Translocation down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Mon, 11 Oct 2021 23:13:01 +0000 en-US hourly 1 https://wordpress.org/?v=5.8 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Translocation down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 In the United States, 6,000 children are born with the disease each year https://www.novascotiadownsyndromesociety.com/in-the-united-states-6000-children-are-born-with-the-disease-each-year/ Mon, 11 Oct 2021 23:13:01 +0000 https://www.novascotiadownsyndromesociety.com/in-the-united-states-6000-children-are-born-with-the-disease-each-year/ TYLER, Texas (KETK) – October is recognized as Down Syndrome Awareness Month, according to Texas Health and Human Services. Each year, approximately 6,000 children are born with this disease in the United States. Down syndrome is the most frequently diagnosed chromosomal disease in the country. Veteran nonprofit Bullard receives Governor’s Award for volunteering A person […]]]>

TYLER, Texas (KETK) – October is recognized as Down Syndrome Awareness Month, according to Texas Health and Human Services.

Each year, approximately 6,000 children are born with this disease in the United States. Down syndrome is the most frequently diagnosed chromosomal disease in the country.

A person usually has 46 chromosomes and 23 from each parent.

Babies born with Down syndrome have a copy of chromosome 21, which affects their development.

The condition also affects about one in 700 babies.

There are three types of Down syndrome:

  • Down’s syndrome – every cell has three copies of chromosome 21. Most people have this type.
  • Translocation Down Syndrome – some or all of extra chromosome 21 is present, but it is attached to a different chromosome. This occurs in about 3% of people with Down syndrome.
  • Mosaic Down Syndrome – cells have a combination of the above two conditions. It affects about 2% of people with Down syndrome.

People with Down syndrome have a higher risk of having breathing and hearing problems as well as thyroid or eye problems or other health problems.

They can also have problems like low birth weight and heart defects that can lead to death in the first year.

About 40% of babies born with Down syndrome have congenital heart defects. These problems can affect the shape of their heart and how it works, but most of these problems can be treated.

People with Down syndrome have different abilities, and development may be slower for some people.

“Before coming to work at HHSC, I had worked as an early intervention specialist with a local early childhood intervention program (ECI) and worked with children of different abilities,” said Erika Alvarez, liaison family ECI. “Helping families and witnessing their progress is truly heartwarming. I fondly remember a mother who had a daughter with Down’s syndrome. She initially struggled to come to terms with her daughter’s diagnosis, but quickly became her daughter’s biggest advocate. The mom became very involved in the sessions, asked for resources and joined groups to surround herself with support.

Health experts have also mentioned that it is important to enroll children with Down syndrome in different programs such as speech therapy, occupational therapy and physiotherapy. This will help their development so that they can reach their full potential.

Through the HHS, families can contact the Early Childhood Intervention Services and Healthy Texas Babies programs and read the Information About Down Syndrome for New and Expecting Parents pamphlet.

To learn more about Down syndrome, click here and here.


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Five common myths about intellectual disabilities https://www.novascotiadownsyndromesociety.com/five-common-myths-about-intellectual-disabilities/ Wed, 06 Oct 2021 13:03:22 +0000 https://www.novascotiadownsyndromesociety.com/five-common-myths-about-intellectual-disabilities/ My brother and I, at the start of a lifelong journey together. There are many myths and misconceptions about people with intellectual disabilities. People tend to believe what they have heard or experienced, but sometimes that means information that is not entirely accurate. As a brother or sister of a disabled brother, I have experienced […]]]>

My brother and I, at the start of a lifelong journey together.

There are many myths and misconceptions about people with intellectual disabilities. People tend to believe what they have heard or experienced, but sometimes that means information that is not entirely accurate. As a brother or sister of a disabled brother, I have experienced some of these misconceptions. I might have even believed a few of them at once. We all make mistakes. The important thing is to be open to learning and change. Today’s blog will scratch the surface by examining five common myths or misconceptions.

1. People with intellectual disabilities are always happy.

There are certain syndromes, such as Williams syndrome, which include a happy temperament among the defining characteristics. Williams syndrome is a genetic disease present at birth. One of the common attributes found in people with Williams syndrome is a very social personality. However, most people with intellectual disabilities experience the same range of emotions as we do. One recent evening, I was trying to have a phone conversation with my brother. He was struggling harder than usual to express his thoughts. Finally he sighed and said “bad day”. We all have good days and bad, including people with intellectual disabilities. It would be unfair to place an unrealistic expectation of perpetual happy and smiling attitudes on people based solely on their intellectual disability.

2. Down syndrome is the only cause of intellectual disability.

When most people hear the term intellectually disabled, they imagine someone with Down syndrome. People with Down syndrome are more likely to be featured in television shows and commercials when a person with a developmental disability is featured. The image of a person with Down’s syndrome has become almost synonymous in the minds of most people with intellectual disabilities. Down syndrome is the result of an extra chromosome, forty-seven instead of forty-six. Worldwide, Down syndrome occurs in one in 600 to 700 births.

Fetal alcohol syndrome is also a major cause of intellectual disability and a preventable cause. Fetal alcohol syndrome is the result of alcohol consumption during pregnancy. Symptoms for a person with Fetal Alcohol Syndrome vary, but can include distinctive facial features, including small eyes, an unusually thin upper lip, a short, upturned nose, and a smooth surface of skin between the nose and the nose. upper lip, deformities of joints, limbs, and fingers, slow physical growth before and after birth, difficulty with vision or hearing problems, shortness of the head and size of the brain, and deformities heart, kidney and bone problems. Intellectual disabilities and social and behavioral problems are often associated with alcoholism and fetal syndrome.

Another common cause of intellectual disability is fragile X syndrome, which affects men more often than women. People with fragile X may have developmental delays, learning disabilities, and social and behavioral problems such as not making eye contact, having difficulty paying attention, and clapping their hands. Men with fragile X usually have some degree of intellectual disability, and autism frequently occurs in fragile X.

Down syndrome, fetal alcohol syndrome, and fragile X are the most common diagnoses. Still, it’s estimated that up to two-thirds of people with DID (including my brother) have no diagnosis or known cause.

3. Intellectual disabilities are caused by the sins of previous generations.

OK, I know that sounds pretty far fetched, but it was a belief held by many religious people. Some churches have continued this belief even until our recent past. The history of people with intellectual disabilities and religious beliefs dates back to the ancient Greeks, who viewed a person’s disabilities as a punishment from the gods. In the Middle Ages in Eastern Europe, people with intellectual disabilities were considered witches and were often imprisoned, tortured, burned and killed. Theology in 16th and 17th century England also pointed the blame of handicaps to discontent with God.

Some church leaders blamed parents for physical, mental, and intellectual disabilities. This belief has its origin in the teachings of the Old Testament, which stipulated that those who did not follow the instructions of the Ten Commandments would be punished on the children for three or four generations.

At the beginning of the 20e century, the Roman Catholic Church systematically refused to give the sacraments of Holy Communion to children with intellectual disabilities. Fortunately, most people have shied away from this misinformed mindset, and many churches have programs for people with special needs.

4. People with intellectual disabilities are not interested in sex.

Sexuality is the elephant in the room that no one wants to talk about when it comes to people with intellectual disabilities. It is often assumed that people with IDD are asexual. They are seen as eternal children with no interest in sex or romance, a view that makes it easier to avoid the subject. This misguided attitude means that sex education is rarely offered, leaving people with IDD vulnerable to unwanted pregnancies and sexually transmitted diseases.

The reality is that there can be people with DID who are asexual just like there are in the neurotypical population, but there are also people with DID who are heterosexual or LBGTQIA. Everyone, including people with IDD, has the inherent right to sexual expression, but with that right comes the need for information and education. This much needed sex education is rare, whether for lack of resources or caregivers or for parents’ reluctance to tackle a difficult subject.

5. People with intellectual disabilities are totally different from neurotypical people.

The fantastic reality is that we are all designed to be beautifully unique. Even identical twins don’t share the same fingerprints! Yet despite our differences, we are all more alike than different, including people with intellectual disabilities. People with intellectual disabilities may need additional resources and assistance. For example, my brother has difficulty communicating, so he needs a listening and patient ear. The impatient side of me wants to hurry and not stop to read what he’s saying. But when I stop and take the time to listen, really listen, i find out he’s not that different after all. He wants to be recognized. He wants to be loved and he wants to be included. This is what we all want. This is what we all deserve.

Gl Myths 2

My brother and I still walk our path together as longtime friends.


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‘The idea of ​​surgery is terrifying’ Women with EDS raise £ 350,000 for life-saving treatment https://www.novascotiadownsyndromesociety.com/the-idea-of-%e2%80%8b%e2%80%8bsurgery-is-terrifying-women-with-eds-raise-350000-for-life-saving-treatment/ Wed, 06 Oct 2021 06:00:00 +0000 https://www.novascotiadownsyndromesociety.com/the-idea-of-%e2%80%8b%e2%80%8bsurgery-is-terrifying-women-with-eds-raise-350000-for-life-saving-treatment/ Leah Boxall and Rachel Pighills have never met, but they share the same mammoth task – each trying to raise £ 350,000 by October 15 to pay for grueling multistage spine surgery in America, which according to them, offers them the only hope of saving their lives. They face the prospect of crossing the Atlantic […]]]>

Leah Boxall and Rachel Pighills have never met, but they share the same mammoth task – each trying to raise £ 350,000 by October 15 to pay for grueling multistage spine surgery in America, which according to them, offers them the only hope of saving their lives.

They face the prospect of crossing the Atlantic to visit neurosurgeon Dr Paolo Bolognese’s New York clinic for a total of around 24 hours of surgery each, followed by months of rehabilitation in the UK.

They are both living with Ehlers-Danlos syndrome (EDS) – a genetic disease that is thought to affect one in 5,000 people, which comes in many different forms and affects connective tissues in the body. It is often associated with hyper-mobile joints, loose ligaments, pain, easy bruising and slow healing.

Read more

Ehlers-Danlos syndrome: “I would dislocate my shoulder by putting on my coat, but I was told I was a hypochondriac”

In the case of these women, they have a hyper-mobile form of EDS associated with structural defects at the junction of the spine and skull (called Chiari malformation) and have severe neck problems. Because their ligaments can stretch more than normal, they risk stretching and twisting the arteries and spinal nerve, causing problems with the blood supply – and the risk of complete paralysis.

Although the NHS claims to fund EDS surgery, UK clinicians say it does not happen in reality due to a lack of evidence that it works, as well as a protective reluctance by surgeons in the US and in Spain to publish their results.

Rachel, 35, who lives near Worcester with her partner and 14-year-old daughter, is clearly very ill. She searches for air with every word as she battles excruciating pain to recount her daily struggle with respiratory, heart and bladder failure.

“The idea of ​​surgery is terrifying, but there is no option,” she says. “If it’s successful, it will keep me from dying and hopefully give me some quality of life back. “

Rachel was leading an active life before a blow to the head by a ceiling fan in 2018 sent her health “on a downward spiral”.

Over dozens of appointments with NHS neurologists, neurosurgeons and other clinicians, she has found out she has EDS, but is nowhere near finding treatment in the UK for her condition. of the spine.

Social media took her to Dr Bolognese, who assessed her in online consultations and believes she urgently needs three surgeries to relieve the pressure on her brain and put her head back in. the right position to save his life.

Leah, 39, who lives with her 17-year-old daughter in Fareham, Hampshire, underwent surgery in Spain in 2017, funded by the sale of her parents’ house, after a car crash sparked damage of her health related to EDS until she became bedridden. But the former rider lives in constant pain and with her neck bent at an unnatural angle.

Read more

“This is my first London marathon after the removal of a half lung”

Her eight-year struggle with ill health has turned her into a champion for the rights of patients with EDS, who she says face discrimination.

She says, “What is upsetting for our community is that we have witnessed the kind of surgery we need in this country on people with rheumatoid arthritis and Down syndrome for their loose ligaments, but the ours has not yet been recognized.

Leah Boxall is raising money to pay for surgery in the US that is not offered for EDS in the UK (Photo: Supplied)

The inspiration for the two women is Jessica Kill, who underwent surgery for a craniocervical malformation associated with SED and Chiari by Dr Bolognese in 2016, after a fundraising appeal in I.

She now works three days a week and has taken up paddleboarding. “The surgery has changed my life,” she says. “At the time, my future was to be fed at PEG (through a feeding tube), to have support for my breathing, a wheelchair, and then death. It’s all under control now.

The key to the problem seems to be access to evidence. There is no test for EDS, so UK clinicians must trust the symptoms and signs – the NHS has no policy on treating the disease. The result is that people with severe complications from ADS often spend years moving from the mainstay to the post before being diagnosed, during which time they are often very ill.

Dr Andrew Brodbelt, consultant neurosurgeon at the Walton Neurology Center near Liverpool, sees many patients with Chiari and is concerned about the number of people undergoing major and expensive treatment associated with EDS in the United States and Spain, without having proof that it works.

He says US surgeons (who perform most complex craniocervical procedures) are being pressured by commercial forces to restrict the release of outcome data.

His research of EDS patients operated on overseas – which is pending publication – reveals that nearly 85% felt that the surgery improved their main symptoms (pain, headaches and weakness).

They had, on average, spent up to £ 200,000 on what he describes as “scary” operations. Some have sold their homes. Only three received a contribution from the NHS.

Dr Brodbelt participated in meetings with NHS England ahead of the pandemic to try to define a treatment policy for EDS and review the case of spinal fixation surgery. He failed to develop protocols due to difficulties in gathering evidence.

“We should be doing something for these patients,” he says. “The problem is not being able to do the operations – there are a lot of good surgeons who are very capable of operating in the UK. The question is, what is the indication for the operation? How do you measure what is going on?

Read more

Going private: Growing numbers of Britons are abandoning the NHS and paying for medical treatment

In his opinion, Britain should have two or three centers specializing in EDS with multidisciplinary teams of neurologists, rheumatologists, neurosurgeons, physiotherapists and psychologists who could accumulate evidence at the same time as treating patients with EDS. The EDS Society and EDS Support UK are also calling for more research.

An NHS spokesperson said: “The NHS funds surgery for patients with Ehlers-Danlos syndrome, and the decision to undertake such complex procedures must be based on the fact that the benefits to the individual outweigh the risks.

“While there is no cure for Ehlers-Danlos syndrome, the NHS is helping patients live with this rare disease through expert medical diagnosis and using the latest available evidence.”

It is little comfort for Leah and Rachel. Neither has raised more than £ 50,000 for their treatment. As Rachel says, “There is still a huge mountain to climb. “

To donate, visit gofundme.com/f/Lifeline-surgery-for-Leah-and-Rachel


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Early Neurons May Stunt Brain Growth in Rare Form of Autism | Spectrum https://www.novascotiadownsyndromesociety.com/early-neurons-may-stunt-brain-growth-in-rare-form-of-autism-spectrum/ Tue, 05 Oct 2021 15:26:25 +0000 https://www.novascotiadownsyndromesociety.com/early-neurons-may-stunt-brain-growth-in-rare-form-of-autism-spectrum/ Early maturity: Compared to wild-type mouse neurons (left), those from mice with a mutation in the MYT1L gene (right) mature before they can proliferate, resulting in a smaller than average brain. Courtesy of Jiayang Chen, Mary Lambo, Dora Tabachnick / Washington University St. Louis Mice with a mutated copy of MYT1L, a prominent candidate gene […]]]>
Early maturity: Compared to wild-type mouse neurons (left), those from mice with a mutation in the MYT1L gene (right) mature before they can proliferate, resulting in a smaller than average brain.

Courtesy of Jiayang Chen, Mary Lambo, Dora Tabachnick / Washington University St. Louis

Mice with a mutated copy of MYT1L, a prominent candidate gene for autism, have unusually small brains and many other physical and behavioral traits mirroring those seen in people with similar mutations, according to a study published today. hui in Neuron.

Mice represent the first model of MYT1L syndrome, a rare genetic disorder marked by autism, intellectual disability, attention deficit hyperactivity disorder (ADHD), obesity and microcephaly, or a head smaller than the average.

“Generating a mouse line is always a gamble,” says lead researcher Joseph Dougherty, associate professor of genetics and psychiatry at Washington University in St. Louis, Missouri. “The stars have really aligned for us.”

MYT1L codes for a transcription factor, a type of protein that influences gene expression. But few studies have explored how mutations in the gene lead to traits seen in people, in part because there are probably fewer than 100 cases worldwide.

Dougherty and his colleagues used CRISPR to design mice with a MYT1L mutation that resembles the one identified in an autistic person. Mice have neurons that mature earlier than expected, which could help explain the traits seen in humans.

As the first mouse model of MYT1L mutations, “this is historic work, and it certainly holds promise for exploration in basic science and as a preclinical model,” says Charis Eng, president of Cleveland Clinic’s Genomic Medicine Institute in Ohio, which was not involved in the work.

Physical similarities:

Physical examinations of the MYT1L mice suggested to the team early on that they were on the right track. Like most people with the mutation, mice are overweight and, like some people with the mutation, have atypically curved fingers. Behavioral tests revealed other similarities.

Mice are also hyperactive, says Jiayang Chen, a doctoral student in Dougherty’s lab who worked on the study. “This is a very robust phenotype that we have seen through different generations and through different behavioral tests.”

Multiple tests have suggested that MYT1L mice are less social than wild-type mice: they show a limited degree of interest in other mice and spend less time studying them than controls. In one test, a mouse had to press a button with its nose to open a window in another mouse’s room for a brief chance for interaction. MYT1L mice – and especially males – pressed the button but tended to stay away from the window when it opened.

Animal models do not allow for individual comparisons with humans, says Dougherty. For example, while people with autism may not make frequent eye contact with other people, mouse models of the disease may sniff each other less often or with less enthusiasm than usual.

But given that mice are so different from humans, it’s “encouraging that this model recapitulates much of the phenotype relevant to humans,” Eng says.

The objective of the study of MYT1L mice is to identify which brain functions are altered when MYT1L is mutated, and then to study these circuits in humans.

The new findings open the door to researching therapies that might alleviate some of these traits in people with MYT1L syndrome, Dougherty says. “If you have a good model, you can work to reverse what you see.”

Early neurons:

Brain scans showed that MYT1L mice reduced overall brain volume and white matter, the bundles of nerve fibers wrapped in myelin that connect neurons from different regions of the brain.

The mutation speeds up expression of genes involved in brain growth, but dampens the expression of genes that encourage neurons to divide and make more brain cells, according to comparisons of RNA sequencing data from mouse brains embryonic and adult. Many of these deregulated genes are linked to autism and intellectual disability.

Instead of dividing and multiplying, causing brain growth, mouse brain cells tend to mature too early and differentiate early in their final form, cell staining of embryonic mouse brain samples revealed . The result is microcephaly.

However, it’s not entirely clear what populations of neurons are missing in small brains, says Brady Maher, a senior researcher at the Lieber Institute for Brain Development in Baltimore, Maryland, who was not involved in the study. “It could be that all types of neurons are generally missing, but it is also possible that a specific type of neuron is missing.”

Notably, the genes whose expression is altered in MYT1L mice overlap with those that are altered in other mouse models of autism. For example, certain mutations in CHD8, which regulates other genes linked to autism, lead to macrocephaly or a larger than average head.

“We found a very significant overlap between the two,” Chen says. The brain growth genes that CHD8 reveals are rejected in MYT1L mice, and vice versa.

Beyond cell maturation, MYT1L is involved in the normal functioning of myelin in white matter, an important element for neuronal connectivity. Its disruption can lead to some of the neural circuit dysfunctions seen in autism, says Jun Hee Kim, associate professor of cellular and integrative physiology at the University of Texas Health Sciences Center at San Antonio, who has no participated in the study. “This study shows that MYT1L is essential for the early development of neural circuits.”

Dougherty and his colleagues then plan to generate conditional knockout mice – mice missing both copies of MYT1L only in specific regions of the brain – to determine exactly which brain circuits are affected by mutations or loss of the gene.


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Genetic testing made me realize I was not to blame for my child’s autism https://www.novascotiadownsyndromesociety.com/genetic-testing-made-me-realize-i-was-not-to-blame-for-my-childs-autism/ Mon, 04 Oct 2021 21:11:15 +0000 https://www.novascotiadownsyndromesociety.com/genetic-testing-made-me-realize-i-was-not-to-blame-for-my-childs-autism/ Caila Smith / Getty I was in my tub the night before Thanksgiving when I found out my daughter Evelyn had autism. I had been obsessively checking his MyChart for weeks to see if his doctors had updated their clinical notes regarding his autism assessment. Finally, it was in black and white: level 3 autism […]]]>
Caila Smith / Getty

I was in my tub the night before Thanksgiving when I found out my daughter Evelyn had autism. I had been obsessively checking his MyChart for weeks to see if his doctors had updated their clinical notes regarding his autism assessment. Finally, it was in black and white: level 3 autism spectrum disorder.

You hear parents say how upset they are to hear their child’s diagnosis, but I can’t say I felt it. Not that it would be wrong if I did, but I had long moved past the sadness. At this point, I was ready to receive answers. An official diagnosis was just confirmation of what I was already expecting. But what I didn’t know would come next was an intense desire to discover Why. The only thing I could focus on was that it had to be my fault somehow.

I started to think about all the reasonable (and completely unreasonable) things I could have done to possibly “cause” her autism. Being meticulously obsessed with what I did during my pregnancy and how I raised her in her first year of life became a compulsion. Did the Zofran or Zoloft I was taking cause his autism? Did she sit too much in front of the TV when she was a baby? Are we living with unknown air pollutants? What did I do wrong? In hindsight, some of these thoughts were a bit exaggerated – the medical community might even support them as unrealistic. But even knowing that these things were unlikely, my thoughts still spread like wildfire. I made myself sick with this dark, obsessive, guilty feeling.

My husband told me that I had to start accepting that we might never know why our child has autism when hope came to us in the form of a referral for genetic testing.

Courtesy of Caila Smith

We ended up choosing a geneticist at Riley Children’s Hospital in Indianapolis, a hospital ranked by US News and World Reports as one of the best children’s hospitals in the country. Not to my surprise, Evelyn’s geneticist was just stunning. He looked at her from the top of his head to the bottom of his toes, making sure to tell us everything he was doing. He made some remarks about some subtle physical differences that she carried and recommended that we go ahead with a genetic and chromosome panel. My DNA, my husband’s DNA, and Evelyn’s DNA were collected via a cheek swab, and then we started the waiting game.

Four months later, we got a call from one of the genetic counselors telling us that Evelyn had three uncertain genetic mutations. As our genetic counselor pointed out, there are three categories of genetic mutations (or changes) that can fall: positive, negative or uncertain.

A positive classification means that the mutation is pathogenic or probably pathogenic, while a negative classification means that the mutation is benign or probably benign. In an uncertain classification, this means that the variant has an unknown significance. It could go either way, but it means that researchers are not far enough along in their studies to know for sure.

It’s also important to note that many of us have small mutations in one way or another that might not mean anything.

We had originally scheduled a follow-up appointment for five months, but that day we got a call from the office asking if we could do it that week. Three days later, we returned to Riley to review our daughter’s results.

From there, we were told that Evelyn and my husband both have a copy of the FRAS1 gene, which makes them both carriers of Fraser Syndrome (a rare genetic disorder that causes the eyelids, fingers and toes to fuse together, as well as abnormalities of the genitals and urinary tract and severe abnormalities in organ function). Fortunately, this syndrome will not affect any of them just because they are carriers. But, if they were to have a child with another carrier of Fraser syndrome, there would be a 25% chance that that child would have the disease or a 50% chance that they would be a carrier. As it is, our other children also have a 50% chance of being carriers.

Courtesy of Caila Smith

We would never have known this without genetic testing, but it was not this particular mutation that had intrigued geneticists so much. When we were greeted by the genetic counselor she looked at me and said, “Well, Evelyn is one of a kind. This is really interesting because there is no reported case of a combination / type of two of its mutations.

By the time the doctor came to see us, he had brought two other geneticists and a medical student from Indiana University with him. We have been told that Evelyn has changes in both copies of her PCLO gene, which is believed to be associated with early brain development. One of these mutations was passed to me and the other from her father – she received both of our mutations in one gene.

He explained how difficult it would be to say how these genetic mutations would affect Evelyn having never seen her specific pattern before, but he gave us hope by introducing us to the UI medical student sitting with his notepad in the corner. He told me his name (although I’m ashamed to say I don’t remember) and said that she and her team would research these changes and hope they would be more. close to the answers in the next two years. .

But what her geneticist did for me at the end of her date was perhaps the most reassuring part of the whole meeting. He insisted on looking me in the eye and saying, “I don’t think you did anything to cause your daughter’s autism. We believe his autism is due to these genetic changes.

Courtesy of Caila Smith

The weight of all the blame I was carrying lifted off my shoulders and I sobbed. There, in this office, in front of all these strangers, I cried ugly. It never mattered to me that Evelyn was any different – autism is part of who she is and I couldn’t imagine her being anyone else. Finding out that she has a few genetic mutations isn’t going to change the course of her life, but it has given me and my husband peace of mind for our own.


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Types of AML: classification and identification https://www.novascotiadownsyndromesociety.com/types-of-aml-classification-and-identification/ Sun, 03 Oct 2021 20:41:09 +0000 https://www.novascotiadownsyndromesociety.com/types-of-aml-classification-and-identification/ Acute myeloid leukemia (AML) is a type of cancer that starts in hematopoietic cells in the bone marrow. Doctors do not stage AML like many other cancers because it usually does not form tumors. Instead, experts can categorize AML into subtypes, which can help them provide the most appropriate treatments. AML is the most common […]]]>

Acute myeloid leukemia (AML) is a type of cancer that starts in hematopoietic cells in the bone marrow. Doctors do not stage AML like many other cancers because it usually does not form tumors. Instead, experts can categorize AML into subtypes, which can help them provide the most appropriate treatments.

AML is the most common type of acute leukemia in adults. Some research estimates that 20 240 people will be diagnosed with AML in 2021.

Some people may refer to AML as acute myeloid leukemia, acute myelogenous leukemia, acute granulocytic leukemia, or acute non-lymphocytic leukemia.

Doctors can use classification systems to classify AML subtypes based on specific characteristics of blood cells. By identifying the subtype and prognostic factors, such as age, doctors can suggest the best treatment options and improve a person’s outlook.

This article discusses AML, including its subtypes according to the two most commonly used classification systems for AML. It also examines the identification, outlook and risk of AML relapse.

The Franco-American-British (FAB) classification for acute leukemia is an older classification system that people have been using since the 1970s. However, doctors still use it commonly today.

This classification system is based on how cells appear under a microscope. Knowing this helps doctors identify their cell line and degree of maturation.

The FAB classification divides AML into subtypes M0 to M7 as follows:

  • M0: undifferentiated acute myelogenous leukemia
  • M1: acute myelogenous leukemia with little or no maturation
  • M2: acute myelogenous leukemia with maturation
  • M3: acute promyelocytic leukemia (APL)
  • M4: acute myelomonocytic leukemia
  • M4éo: acute myelomonocytic leukemia with eosinophilia
  • M5: acute monocytic leukemia
  • M6: acute erythroid leukemia
  • M7: acute megakaryoblastic leukemia

The World Health Organization (WHO) classification for AML is the most recent and widely used system for classifying AML.

Unlike the FAB classification, the WHO classification takes into account factors that affect a person’s outlook. Features such as genetic irregularities, biological features, and the effects of prior exposure to treatment all affect the clinical presentation and outlook for AML.

The WHO Classification of Tumors, 4th revised edition, volume 2 – published in 2017 – divides AML into the following general groups:

  • AML with recurrent genetic abnormalities
  • AML with changes related to myelodysplasia
  • treatment-related myeloid neoplasms
  • AML not otherwise specified
  • myeloid sarcoma
  • myeloid proliferations associated with Down syndrome

Doctors can identify the specific type of AML by testing leukemia cells in the person’s bone marrow and blood samples.

Specifically, specialists use tests to examine their shape, size and appearance (morphology), cell components and composition (cytochemistry), and the presence of markers, or antigens, on the cell surface to determine their function. (immunophenotyping).

These tests include:

  • Peripheral blood smear: An expert will examine a blood sample under a microscope to identify changes in the number and appearance of different types of blood cells.
  • Cytochemistry: This test uses dyes to cause some leukemia cells to change color. This can help specialists determine what types of cells are present in the sample.
  • Immunophenotyping: This test is essential for classifying AML by examining markers, or antigens, on the cell surface to help determine what type of cell they start in and how mature they are.
  • Cytogenetic : This chromosome test looks at cells under a microscope to see if a person’s chromosomes have irregularities. Chromosome changes that this test can detect include translocations, inversions, deletions, additions, and duplications.
  • Fluorescent in situ hybridization: This is another chromosome test that uses special fluorescent dyes that only attach to certain parts of the chromosomes or to specific genes.
  • Polymerase chain reaction: This is a sensitive test that can identify changes too small for an expert to see under a microscope. It is useful for detecting the presence of a low number of leukemia cells in a sample.

People with AML respond variably to treatment due to the diversity of genetic and clinical presentations. Some factors that affect the outlook for AML include a person’s AML subtype, age, and response to treatment. The sections below examine each of these factors in more detail.

Age

People over 60 usually have a more unfavorable outlook than younger individuals. This may be because older people have more chromosomal irregularities and other medical conditions.

Response to initial treatment

People who respond well to treatment and achieve complete remission on initial treatment usually have better survival results than those who do not respond to treatment or who relapse within the first 6 months.

Chromosomal irregularities

About 50-60% of people with AML have cytogenetic irregularities. Some cytogenetic or chromosomal irregularities are associated with better results, while others may suggest poorer results.

For example, APL is a subtype of AML. The FAB classification classifies it as an M3 subtype, and the WHO classification classifies it as APL with a translocation between chromosomes 15 and 17.

Due to advances in diagnostic techniques and treatments, many experts consider APL to be one of the most curable subtypes of AML in adults. It has complete remission and cure rates of around 90% and 80%, respectively.

Genetic mutations

Some research indicates that genetic mutations can affect how people respond to certain treatments, with some mutations being associated with better results.

For example, having mutations in the NPM1 uncomfortable is associated with a higher likelihood of complete remission, improved overall survival, and a lower incidence of relapse.

Meanwhile, testimonials from European LeukemiaNet indicates that mutations in the TP53 gene are associated with particularly low survival rates.

Markers in leukemia cells

Doctors also use antigens in leukemia cells to determine the prognosis. People who strongly express CD56 generally have a poorer outlook and lower overall survival rates.

Some research also suggests that people with peripheral blood blasts with elevated CD87 expression also have a poorer outlook and are likely to relapse.

Other conditions

People with a history of myelodysplastic syndrome or another blood disorder and people who develop AML as a result of treatments for other types of cancer, known as treatment-related AML, also have poorer health outcomes. perspectives.

AML is a type of leukemia with many subtypes that have different clinical presentations and respond to treatment differently due to many different factors.

Classification systems can identify subtypes of AML on the basis of these clinical features and characteristics, which are useful in determining the diagnosis, treatment, and outlook of people with AML.

Besides the subtype of AML, other factors affecting outlook, such as age and the presence of genetic mutations, may impact the outcome of AML. Although treatment advances lead to a better outlook, people with AML – including those who have achieved complete remission after their initial treatment – may still be at risk for a relapse.


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Celiac disease | American Academy of Pediatrics https://www.novascotiadownsyndromesociety.com/celiac-disease-american-academy-of-pediatrics/ Fri, 01 Oct 2021 08:07:07 +0000 https://www.novascotiadownsyndromesociety.com/celiac-disease-american-academy-of-pediatrics/ Education gaps Celiac disease patients are quite common, but most go undiagnosed, in part because practitioners ignore the sheer diversity of associated symptoms and fail to include celiac disease in the differential diagnosis. For patients with established celiac disease, pediatricians should have some knowledge of the gluten-free diet and recommendations for annual follow-up care. introduction […]]]>

Education gaps

Celiac disease patients are quite common, but most go undiagnosed, in part because practitioners ignore the sheer diversity of associated symptoms and fail to include celiac disease in the differential diagnosis. For patients with established celiac disease, pediatricians should have some knowledge of the gluten-free diet and recommendations for annual follow-up care.

introduction

Celiac disease (CD) is an autoimmune enteropathy triggered by the ingestion of gluten in genetically predisposed individuals. Removing gluten, a compound protein found in wheat, barley and rye, from the diet reverses intestinal damage and relieves signs and symptoms. Previously, CD was thought to occur mainly in young children of European descent; however, with better serological testing, recognition of potential manifestations, and more widespread testing, we now know that CD affects all age groups and occurs worldwide, with an average prevalence of around 1 in people. 100. (1) (2) Variations exist with certain groups, such as the Sahrawi population of Western Sahara in Africa and Spain, with estimates of 1 in 18 having CD, (3) while in most parts of Asia except India the incidence of CD is quite low. …


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Prohibition of abortion for genetic abnormality overturned by federal court https://www.novascotiadownsyndromesociety.com/prohibition-of-abortion-for-genetic-abnormality-overturned-by-federal-court/ Thu, 30 Sep 2021 19:24:00 +0000 https://www.novascotiadownsyndromesociety.com/prohibition-of-abortion-for-genetic-abnormality-overturned-by-federal-court/ Through Ryan foley, Christian Post reporter | Thursday, September 30, 2021 An activist holds a rosary during an anti-abortion rally outside City Hall in Los Angeles, Calif., Sept. 29, 2015. Republicans in the US Congress challenged Planned Parenthood’s eligibility for federal funds on Tuesday, while as the president of the health organization said the funding […]]]>
An activist holds a rosary during an anti-abortion rally outside City Hall in Los Angeles, Calif., Sept. 29, 2015. Republicans in the US Congress challenged Planned Parenthood’s eligibility for federal funds on Tuesday, while as the president of the health organization said the funding would restrict women’s access to care and disproportionately harm low-income patients. |

A federal judge struck down a crucial part of an Arizona law banning abortions based on genetic abnormalities, accusing the state of providing women seeking abortions with “misinformation.”

U.S. District Court Judge Douglas Rayes, appointed to the bench by former President Barack Obama, struck down part of an Arizona pro-life law that criminalizes the practice of abortion “knowing that the abortion is requested because of a genetic defect in the child. . ”

In his ruling Tuesday obtained by The Arizona Republic, Rayes alleged that the provision of Senate Bill 1457 “essentially requires providers to deceive their patients into believing that their constitutionally protected choice is illegal.”

Further, he concluded that the law was designed to “make it less likely that a woman, although wishing to terminate her pregnancy due to a fetal genetic defect, can successfully exercise her right to do so” and accused the able to perpetuate “state-mandatory disinformation.”

In response to Rayes’ ruling, Arizona Attorney General Mark Brnovich has vowed to appeal the ruling.

“Our job is to defend the law, and we will continue to do so,” he said in a statement. “Whether it is pushing back unconstitutional mandates or defending our laws against pro-abortion activists, we will continue to lead the charge and defend the Arizonans.”

While Rayes struck down part of Senate Bill 1457 that bans abortions based on genetic abnormalities, he left other parts of the law in place.

He refused to invalidate the provision of the law granting unborn children at each stage of their development “all the rights, privileges and immunities available to other persons, citizens and residents of this state”.

The provisions of the law requiring the cremation or burial of aborted babies and prohibiting the distribution of abortion pills by mail were also not changed by Rayes.

Arizona is one of many states that have enacted bans on abortions performed on the basis of genetic abnormalities.

North Dakota, Ohio, South Dakota, Utah, Tennessee, and Indiana are other states that have banned abortions based on a diagnosis of Down’s syndrome or other birth defects. . The laws received a mixed reception from the courts, with appeals courts upholding the measures in Ohio and Tennessee, while the U.S. 8th Circuit Court of Appeals overturned the ban on abortion in Arkansas.

As U.S. courts continue to debate the constitutionality of laws banning abortion of babies based on genetic abnormalities, the Polish Constitutional Court, the country’s equivalent of a Supreme Court, has ruled that a law allowing such abortions violated the Polish constitution. Meanwhile, the UK’s High Court of Justice last week upheld a law allowing abortions on the basis of fetal abnormalities after 24 weeks of gestation.

Proponents of banning abortions on the basis of genetic defects argue that termination of pregnancy due to prenatal diagnosis constitutes eugenics. They point to the near extinction of babies born with Down syndrome in Denmark and other European countries as a cause for concern.

United States Supreme Court Justice Clarence Thomas warned in 2019 of a concurring opinion on the “potential of abortion to become a tool for eugenic manipulation.”

“With today’s prenatal screening tests and other technologies, abortion can easily be used to rule out children with unwanted characteristics,” Thomas wrote.

“In Iceland, the abortion rate among children diagnosed with Down’s syndrome in utero is approaching 100%,” he added. “Other European countries have similarly high rates, and the rate in the United States is about two-thirds.”

A group of children with Down’s syndrome appeared in a 2018 video asking to be placed on the International Endangered Species List.

Opinion polls have indicated that most Americans support banning abortions on the basis of genetic abnormalities. A poll conducted by Marist on behalf of the Knights of Columbus Catholic fraternal organization released earlier this year found that 70 percent of Americans, including 59 percent of Democrats and 56 percent of those who identify as pro-choice, oppose or strongly oppose it “abortion because the child will be born with Down syndrome.”

Ryan Foley is a reporter for the Christian Post. He can be contacted at: ryan.foley@christianpost.com


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China Genetic Testing Market Analysis by Industry Size, Future Evolution, Scope and Regional Analysis by 2021-2026 – Bulk Solids Handling https://www.novascotiadownsyndromesociety.com/china-genetic-testing-market-analysis-by-industry-size-future-evolution-scope-and-regional-analysis-by-2021-2026-bulk-solids-handling/ Thu, 30 Sep 2021 03:46:47 +0000 https://www.novascotiadownsyndromesociety.com/china-genetic-testing-market-analysis-by-industry-size-future-evolution-scope-and-regional-analysis-by-2021-2026-bulk-solids-handling/ According to the latest IMARC group report, entitled “Genetic testing in China Market: industry trends, share, size, growth, opportunity, and forecast 2021-2026The Chinese genetic testing market reached a value of US $ 2.76 billion in 2020. Genetic testing identifies changes occurring in an individual’s genes, proteins or chromosomes. They help determine a person’s chances of […]]]>

According to the latest IMARC group report, entitled “Genetic testing in China Market: industry trends, share, size, growth, opportunity, and forecast 2021-2026The Chinese genetic testing market reached a value of US $ 2.76 billion in 2020. Genetic testing identifies changes occurring in an individual’s genes, proteins or chromosomes. They help determine a person’s chances of passing a genetic disease to the next generation as well as their vulnerability to a suspected genetic disease. The genetic testing market in China has experienced rapid development since the establishment of the first genomics company in 1999. The demand for genetic testing services in the country is driven by factors such as aging population, expansion middle class and investments in the health sector. The industry has also attracted international investors due to the growing demand for non-invasive prenatal testing and increasing research in the areas of reproductive health and oncology.

Request a PDF sample of this report: https://www.imarcgroup.com/china-genetic-testing-market/requestsample

Market trends:

In an effort to develop its national biotechnology sector, the Chinese government has taken steps towards the development of genetic science. He identified genomics as a strategic area for the social and economic development of the country in his 14e Five-year plan. The government also plans to document the genetic makeup of people from nine different minority groups, with the aim of decoding hereditary information in their genes. Apart from this, the direct-to-consumer DNA testing market has also seen massive growth driven by the growing priority of personal health and wellness among consumers. This trend has been further supported by technological advancements that have reduced the cost of DNA sequencing services. However, there is a lack of educational programs specifically designed for training medical genetics professionals in China. Looking ahead, IMARC Group expects the market to grow at a CAGR of 16.8% during the period 2021-2026.

Market summary:

  • On the basis of test type, the market is segmented into prenatal tests, neonatal tests, diagnostic tests, carrier tests, predictive or presymptomatic tests, and others. Among these, prenatal screening is the most popular segment.
  • Based on Diseases, the market has been divided into Cancer, Down Syndrome, Thalassemia, and others. At present, cancer remains the leading cause of death in China, thanks to which genetic testing is gaining popularity as these tests help doctors identify the appropriate drugs for patients.
  • The market has been classified on the basis of cytogenetic, biochemical and molecular technologies. Among these, biochemistry is the most common technology used to perform genetic testing in China.
  • There are several service providers available in China for genetic testing such as hospital labs, independent labs, and specialty clinics. Hospital laboratories display a clear domination on the market.
  • The report analyzed the Chinese genetic testing market based on different test samples including blood, saliva, hair, and others. Of these, blood samples hold the majority of the market share.
  • The competitive landscape of the market was also examined, with some of the major players being BGI, Shenzhen Huada Gene Technology Co Ltd., Berry Genomics Co. ltd., Daan Gene Co. Ltd, WuXi NextCODE, Annoroad Gene Technology Co. Ltd and WuXi PharmaTech .

Competitive landscape:

  • BGI
  • Berry Genomics Co. Ltd.
  • Daan Gene Co. Ltd
  • WuXi NextCODE
  • Annoroad Gene Technology Co. Ltd.
  • WuXi PharmaTech

Breakdown by type of test:

  • Prenatal test
  • Carrier test
  • Newborn test
  • Predictive / presymptomatic tests
  • Diagnostic tests
  • Others

Disease rupture:

  • Cancer
  • Down Syndrome
  • Thalassemia
  • Others

Breakdown by technology:

  • Biochemical
  • Molecular
  • Cytogenetic

Breakdown by service provider:

  • Hospital laboratories
  • Independent laboratories
  • Specialized clinics

Breakage per test sample:

Ask the analyst for customization and explore the full report with table of contents and list of figures: https://www.imarcgroup.com/china-genetic-testing-market

We update our reports, if you want the latest primary and secondary data (2021-2026) with cost module, business strategy, distribution channel etc. Click on request a free sample report, the published report will be emailed to you in PDF format within 24-48 hours.

Highlights of the report:

  • Market performance (2015-2020)
  • Market Outlook (2021-2026)
  • Market trends
  • Market drivers and success factors
  • The impact of COVID-19 on the global market
  • Value chain analysis
  • Global market structure
  • Complete mapping of the competitive landscape

If you need specific information that is not currently within the scope of the report, we will provide it to you as part of the customization.

Related IMARC Group Reports:

Oxo alcohol market: https://www.imarcgroup.com/oxo-alcohol-technical-material-market-report

Mechanical Fans Market: https://www.imarcgroup.com/mechanical-ventilators-market

Anhydrous Milk Fat Butter Oil Market https://www.imarcgroup.com/anhydrus-milk-market

Ultrasonic flowmeter market: https://www.imarcgroup.com/ultrasonic-flowmeter-market

About Us

The IMARC group is a leading market research company providing management strategies and market research worldwide. We partner with clients across industries and regions to identify their most exciting opportunities, address their most critical challenges and transform their businesses.

IMARC’s information products include leading business, scientific, economic and technological developments for business leaders in the biotechnology, advanced materials, pharmaceuticals, food and beverage, travel and tourism and nanotechnologies. We also provide cost model and manufacturing configuration project reports through Syndicated Analytics, a subsidiary of IMARC Group.

Our offerings include comprehensive market information in the form of research reports, production cost reports, feasibility studies and consulting services. Our team, which includes experienced researchers and analysts from a variety of industries, is dedicated to delivering high-quality data and information to our customers, ranging from small and medium-sized businesses to Fortune 1000 companies.

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Judge Blocks Key Part of Arizona Anti-Abortion Law Involving Genetic Anomalies https://www.novascotiadownsyndromesociety.com/judge-blocks-key-part-of-arizona-anti-abortion-law-involving-genetic-anomalies/ Wed, 29 Sep 2021 13:49:31 +0000 https://www.novascotiadownsyndromesociety.com/judge-blocks-key-part-of-arizona-anti-abortion-law-involving-genetic-anomalies/ This year, Democracy Now! celebrates our 25th anniversary – 25 years of intrepid and independent reporting. Since our very first broadcast in 1996, Democracy Now! refused to accept public or private funds because nothing is more important to us than our editorial independence. But that does mean that we are counting on you, our audience, […]]]>

This year, Democracy Now! celebrates our 25th anniversary – 25 years of intrepid and independent reporting. Since our very first broadcast in 1996, Democracy Now! refused to accept public or private funds because nothing is more important to us than our editorial independence. But that does mean that we are counting on you, our audience, for your support. If everyone who logs into Democracy Now! signed up for a monthly donation of just $ 10, we could cover our running costs for the whole year. Please do your part today. Right now, a generous donor will even double your first monthly donation, which means it will go twice as much! It’s a tough time for all of us, but if you’re able to start a new monthly giving, don’t delay. We’re counting on your support. Thank you and remember, wearing a mask is an act of love.
-Amy Goodman

We rely on the contributions of you, our viewers and listeners to do our job. If you visit us daily or weekly or even once a month, now is the perfect time to make your monthly contribution.

Please do your part today.


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