Translocation down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Wed, 25 May 2022 09:32:30 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 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 Billie Eilish Gets Candid About Living With Tourette Syndrome and Why She Feels ‘Confident’ Now https://www.novascotiadownsyndromesociety.com/billie-eilish-gets-candid-about-living-with-tourette-syndrome-and-why-she-feels-confident-now/ Wed, 25 May 2022 08:40:23 +0000 https://www.novascotiadownsyndromesociety.com/billie-eilish-gets-candid-about-living-with-tourette-syndrome-and-why-she-feels-confident-now/ Billie Eilish shared what it’s like to live with Tourette’s syndrome and have tics. The 20-year-old Grammy Award winner spoke candidly about the neurological disorder, while appearing on David Letterman’s show netflix talk show’My next guest needs no introduction‘. Buy now | Our best subscription plan now has a special price “I’m very happy to […]]]>

Billie Eilish shared what it’s like to live with Tourette’s syndrome and have tics. The 20-year-old Grammy Award winner spoke candidly about the neurological disorder, while appearing on David Letterman’s show netflix talk show’My next guest needs no introduction‘.

Buy now | Our best subscription plan now has a special price

“I’m very happy to talk about it. I actually really like answering questions about it because it’s very, very interesting, and I’m incredibly confused and I don’t understand,” she said of her condition.

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“I never do any tics at all, because the main tics that I do constantly, all day, are like, I wiggle my ear back and forth and raise my eyebrow and click my jaw…and flex my arm here and flex this arm, flex these muscles. These are things that you’ll never notice if you’re just having a conversation with me, but for me, it’s very exhausting. Eilish continued.

The singer added that she was diagnosed when she was just 11 and had “little” tics as a child.

She explained to Letterman that “the most common way people react is to laugh,” because they think she’s trying to be “funny.” “They think I’m [ticcing] like a fun move… And I’m still incredibly offended by that…”

Dr. Praveen Gupta, director, neurology, Fortis Memorial Research Institute, had already said indianexpress.com that the exact cause of the disease is unknown. He added that the cause could be traced to “poor brain development” which can make it difficult to “engage or interact with people”, and it usually starts in childhood.

Depending on the doctor, tics can be genetic or environmental, including motor and visual tics. Since tics are involuntary muscle spasms, they consist of sudden, intermittent contractions of a group of muscles. The most common forms are:

– Turn signal
– sniff
– Clear your throat
– Growls
– Grimacing
– Head movements
– Shoulder movements

In her interview, Eilish added that since it’s part of her, she feels confident now. “It’s not like I like it, but I feel like it’s… part of me. I made friends with him. And so now I’m pretty confident in that.

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The different types of primary care providers https://www.novascotiadownsyndromesociety.com/the-different-types-of-primary-care-providers/ Mon, 23 May 2022 16:19:25 +0000 https://www.novascotiadownsyndromesociety.com/the-different-types-of-primary-care-providers/ Your primary care provider is more than someone you visit once a year for a checkup – they’re your trusted partner in health care and help navigate your well-being through life. of the different stages of life. “Primary care providers are like the quarterback of the medical team,” said Patrick Courtney, MDfamily medicine provider MercyOne […]]]>

Your primary care provider is more than someone you visit once a year for a checkup – they’re your trusted partner in health care and help navigate your well-being through life. of the different stages of life.

“Primary care providers are like the quarterback of the medical team,” said Patrick Courtney, MDfamily medicine provider MercyOne North Iowa Family Medicine Residency. “We collaborate with the specialists while keeping in mind all of your care.”

There are three main primary care specialties: pediatrics, family medicine, and internal medicine.

Pediatrics

The main factor that distinguishes pediatrics from family medicine and internal medicine is the age of the patients. While family medicine and internal medicine providers see adults, pediatrics focuses on children.

“Paediatricians train more in-depth for different diseases and conditions that affect children and adolescents,” said Sara Schutte-Schenck, DOwho sees children MercyOne Pediatric Care Ankeny. “We focus more on an age group and spend a lot of our training learning about the development of the human mind and the human body.”

Pediatricians take care of:

  • Children from birth to 21 years old
  • Growth disorders
  • Genetic disorders like Down syndrome, autism spectrum disorders
  • ADD and ADHD
  • Learning and behavior challenges
  • Management of chronic conditions such as chronic lung disease or congenital heart disease
  • And more

“Primary care providers are like the quarterback of the medical team.” – Patrick Courtney, MD

the The American Academy of Pediatrics recommends you see a pediatrician until age 21, although many people switch anytime after they turn 18.

“Often there is a natural progression for our patients from seeing a pediatrician to an adult care provider,” Dr. Schutte-Schenck said. “After graduating from high school, there may be a gray area during the college years, but we are doing everything we can to maintain continuity of care.”

Family medicine

Family practice providers are usually the ones you think of when you talk about a primary care provider. They receive patients of all ages: from newborns to the elderly, they treat the whole family!

“Family practice providers are proud generalists,” said Dr. Courtney. “I imagine it like this: all three have the same volume of water in their cup, but family medicine has a wider, shallower cup. Internal medicine and pediatricians are deeper but narrower.

Using a holistic approach, family medicine providers address the span of life.

“I can go straight from a 97-year-old patient to a 12-month-old child,” Dr. Courtney said. “We are sort of the specialists in common medical conditions.”

Care provided by family practice providers:

    • Acute care visits
    • Annual wellness exams
    • Geriatric care
    • Management of chronic diseases such as high blood pressure, diabetes, asthma, heart disease
    • Mental/behavioral health care
    • Musculoskeletal care
    • Urgent care visits
    • And more

“I know my patients very well. I know their current medical issues, past medical issues, family medical history, what is important in their life. – Lazaro Rabang, MD

Internal Medicine

While pediatricians no longer see patients once they are adults, internal medicine providers or internists only see patients 18 years of age and older.

“Internists care for patients 18 and older, especially if you have multiple chronic illnesses or complicated conditions,” said Lazaro Rabang, MDinternal doctor at MercyOne Urbandale Internal Medicine and MercyOne Des Moines Medical Center. “We are also able to work either in an inpatient setting as hospital workers or in an outpatient setting, such as a clinic.”

Most medical subspecialty providers, such as cardiologists or pulmonologists, must first train in internal medicine.

Internal medicine providers specialize in the diagnosis, treatment, and prevention of disease in their adult patients. Care by internists includes:

  • Complicated or numerous chronic illnesses
  • Endocrine disorders
  • Heart and vascular disease
  • Geriatric care
  • Rheumatic conditions like autoimmune diseases, musculoskeletal diseases, and connective tissue disorders
  • And more

“I know my patients very well,” said Dr. Rabang. “I know their current medical issues, their previous medical issues, their family medical history, what is important in their life. Primary care providers take care of the whole person.

Continuity of care

Your primary care provider not only gets to know you well, but also your family.

“I have my second generation of families coming to see me,” Dr. Schutte-Schenck said. “The babies I took care of have grown up and now I take care of their babies! It’s so rewarding.

Your primary care provider is also your trusted health expert for preventative care.

“I really like the continuity of care,” said Dr. Courtney. “With primary care, we can help keep people out of hospital.”

If you don’t have a primary care provider, MercyOne makes it easy to find a healthcare expert just for you!

Just take our short quiz and we’ll take the guesswork out of finding someone you trust!

Take our quiz

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6 things this immunologist does every night to sleep better and boost her immune system https://www.novascotiadownsyndromesociety.com/6-things-this-immunologist-does-every-night-to-sleep-better-and-boost-her-immune-system/ Sat, 21 May 2022 15:00:02 +0000 https://www.novascotiadownsyndromesociety.com/6-things-this-immunologist-does-every-night-to-sleep-better-and-boost-her-immune-system/ More than two years after the emergence of a pandemic, we are still dealing with outbreaks of Covid-19 – and that means building and maintaining a strong immune system should be a top priority. As an immunologist and functional medicine physician, I always remind my patients that while genetics, diet, and exercise all play a […]]]>

More than two years after the emergence of a pandemic, we are still dealing with outbreaks of Covid-19 – and that means building and maintaining a strong immune system should be a top priority.

As an immunologist and functional medicine physician, I always remind my patients that while genetics, diet, and exercise all play a role in our immune response, sleep is one of the most effective ways to prepare your body to fight infections.

Without adequate sleep, your stress hormones may experience dysregulationaffecting your weight, gut health and immune defense.

Sleep: Shut down your body, boost your immune system

Exercising is not enough to get quality sleep. I see patients who go to the gym every day who have made sacrifices like eliminating alcohol or sugar, but still can’t sleep well.

In fact, a huge 50 million Americans suffer from some type of sleep disorder, and one in three adults in the United States get less than the recommended minimum of seven hours of sleep.

This, unfortunately, affects our health in many ways. Sleep deprivation not only makes us tired the next day, it also creates inflammation and increases our risk of disease. He was related to increased rates of hypertension, heart disease, obesity, diabetes, depression and cancer.

How to sleep better

The good news is that as soon as you start prioritizing sleep, your the immune system can rebound quickly.

Here are six things I do every night to ensure a good night’s rest:

1. Reduce digital devices

You might be shocked at how much time you spend surfing the web, watching TV, and mindlessly scrolling on your phone. Once you’ve become honest about what you do with your time, think about how you can cut back on those non-essential activities and reallocate time to sleep instead.

I also suggest putting your phone and computer in a drawer at the same time every night. Human behavior experts have found that succeeding in making healthy lifestyle choices depends less on innate willpower than on creating a lifestyle that facilitates those decisions.

2. Create an optimal sleeping environment

Your bedroom should be your sleep sanctuary. You don’t need expensive sheets, a weighted blanket or a cooling pillow. A comfortable mattress, high-quality pillow and soft bedding will do just fine.

If you have any indicator lights on electronics in your bedroom, cover them with black electrical tape. If you have bright streetlights outside your window, use blackout curtains. If you hear traffic noise, use a white noise machine to drown it out.

Finally, make sure your bedroom is nice and cool (the optimal temperature for sleeping is about 65 degrees Fahrenheit or 18.3 degrees Celsius).

3. Calm the mind before bedtime

Insomnia is often caused by ruminating on things that didn’t happen or might never happen.

One way to calm your mind and body is to journal before bed. Dealing with your concerns by writing them down Was found to help clear your mind of stressful thoughts so they don’t keep you up at night.

Breathing exercises can also help. If I’m in an anxious or worried state, or just a little amplified, I use the 4-5-7 breathing technique:

  1. Sitting calmly, place the tip of your tongue on the roof of your mouth near the back of your upper front teeth and exhale with a “whoosh” sound.
  2. Inhale through your nose for a silent count of four seconds, hold your breath for a count of seven, and exhale through your nose for a count of eight.
  3. Repeat this cycle three more times, for a total of four rounds.

4. Experiment with magnesium

Magnesium is often referred to as a “relaxation” mineral, thanks to its demonstrated ability to combat insomnia.

You can always take a magnesium supplement, but one of my favorite ways to use it for sleep is to take a hot Epsom salt bath. Magnesium sulfate is the main component of Epsom salt, and by penetrating your skin and muscles, it can have a relaxing effect.

Even just soaking in a hot bath helps you fall asleep faster.

5. Wear blue light blocking glasses

Blue light impairs your body’s ability to prepare for sleep because it blocks a hormone called melatonin that makes you sleepy.

And given the excessive amounts of blue light in our homes (i.e. smartphones, tablets, computers), blue light blocking glasses are essential for me. wear these glasses was shown to significantly improve the quality of sleep and reduce insomnia.

the best glasses typically have yellow or orange lenses and block higher percentages, some up to 90%, of blue spectrum light. My favorites are Swanswick glasses, but there are also several good manufacturers and prescription options.

6. Do easy stretches

Implement stretching or restorative yoga before bedtime can help with pain, high blood pressure, restless leg syndrome and anxiety. A few poses are enough engage your parasympathetic nervous system and helps you sleep better.

I love doing leg up poses. And the best part is that you really only need about five minutes to make a big difference.

Dr. Heather Moday is a board-certified allergist, immunologist and functional medicine physician. She is also the author of “The Immunotype Breakthrough: Your Personalized Plan to Balance Your Immune System, Optimize Your Health, and Build Your Lifelong Resilience.” Follow her on Instagram @theimmunityMD and Facebook.

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Some suffer Covid-19 relapses after taking Pfizer antiviral https://www.novascotiadownsyndromesociety.com/some-suffer-covid-19-relapses-after-taking-pfizer-antiviral/ Fri, 20 May 2022 01:30:03 +0000 https://www.novascotiadownsyndromesociety.com/some-suffer-covid-19-relapses-after-taking-pfizer-antiviral/ There have been more and more stories of people suffering from worsening Covid-19 symptoms shortly … [+] after completing their five-day course of Paxlovid, an antiviral drug made by Pfizer (Photo by Fabian Sommer/picture alliance via Getty Images) dpa/picture alliance via Getty Images Having a rebound from Covid-19 after taking Paxlovid is not exactly the […]]]>

Having a rebound from Covid-19 after taking Paxlovid is not exactly the same as having a rebound relationship. Although both can make you sick in different ways. Post-Paxlovid rebound may occur after you feel better after taking Paxlovid for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Rebound occurs when at some point after completing the five-day course of the drug, you experience a relapse of Covid-19 symptoms. And it seems that more and more people are reporting such relapses.

For example, there is this pre-printed case report uploaded to Research Square April 26, 2022, of a 71-year-old man fully vaccinated and boosted against Covid-19. He started taking Paxlovid as soon as he tested positive for Covid-19, two days after being exposed to the virus. Her Covid-19 symptoms essentially disappeared after two days of Paxlovid. Yet nine days after he first tested positive and four days after completing the five-day course of Paxlovid, his runny nose, sore throat and difficulty breathing returned, along with his SARS-levels. CoV-2 rising. Sequencing of the viral genome showed that during his first symptoms and when his symptoms returned, he was infected with the BA.1 Omicron subvariant of SARS-CoV-2. Of course, a preprint is not the same as a peer-reviewed article, and anyone with opposable thumbs, a laptop, and internet access could conceivably download a pre-print. impression. But the authors of the case report (Kalpana Gupta, Judith Strymish, Gary Stack and Michael Charness) are legitimate doctors from legitimate health systems, VA Connecticut and Boston Healthcare Systems.

Plus, that certainly wasn’t the only report of such a rebound. For example, here’s what Tatiana Prowell, MD, associate professor of oncology at Johns Hopkins School of Medicine tweeted:

And Peter Hotez, MD, PhD, Dean of the National School of Tropical Medicine at Baylor Medical College, tweeted about his post-Paxlovid relapse case:

As a reminder, Paxlovid received Emergency Use Authorization (EUA) on December 22, 2021 from the United States Food and Drug Administration (FDA) as a treatment for people aged 12 and over with mild to moderate Covid-19. These antivirals are supposed to stop SARS-CoV-2 from doing harm in your body, which is a non-technical way of saying from reproducing in your cells. Although Paxlovid does not put tiny preservatives on the virus spikes, it is actually the combination of two different antiviral tablets, nirmatrelvir and ritonavir, packaged together. The recommended dose of these antivirals is two 150 mg nirmatrelvir tablets with one 100 mg ritonavir tablet twice a day for five days, assuming you have normal kidney function.

Like Hall & Oates, these two drugs work together. Nirmatrelvir can block the action of an enzyme called MPRO, not to be confused with GoPro. MPRO cleaves two different viral polyproteins, which might not sound very sexy but is an important step when SARS-CoV-2 wants to reproduce. During this time, ritonavir inhibits cytochrome P450 (CYP) 3A4 enzymes in the liver that can break down nirmatrelvir and thus allow nirmatrelvir to stay in your body longer.

And just like condoms, Paxlovid doesn’t work after reproduction has already taken place. This is why it is important to take Paxlovid as soon as you find out you are positive for Covid-19. Waiting longer than five days after the first symptoms appear may allow the virus to reproduce too much for Paxlovid to make a big difference. So there is a finite window, less than half a Scaramucci, during which taking Paxlovid will help.

Do these rebound cases then mean that Paxlovid is not doing its job? No not necessarily. Just because the symptoms come back doesn’t mean things wouldn’t have been worse without the medication. Moreover, it is not yet known what percentage of people have experienced such relapses. Again, Twitter stories and a pre-printed case report are not the same as peer-reviewed studies. While The Pfizer clinical trial showed possible Covid-19 rebound occurring in approximately 2% of those who received Paxlovid, approximately 1.5% of those who received only the placebo also experienced similar relapses. Since these two percentages were not statistically significantly different from each other, the conclusion of the clinical trial was that these rebounds were not specific to Paxlovid. Of course, what does or doesn’t happen in a clinical trial doesn’t necessarily mean the exact same thing will apply in the real world.

So what is going on, in the words of Marvin Gaye? One possibility is that the five-day course of the drug may not be long enough for everyone. The drug is supposed to suppress viral replication long enough for your immune system to clear the virus from your body. It’s kind of like slathering on deodorant until you’ve had a chance to take a real shower. Remember that Paxlovid does not eliminate the virus from your body. It just stops it from replicating. The time it takes for your immune system to complete this task of eliminating the virus can vary depending on the amount of virus in your body and the state of your immune system. Your immune system may not have prepared sufficiently by the end of the five-day treatment.

Another possibility is that the Omicron variant is different enough from previous versions of the virus that the drug isn’t as effective. Remember that the Pfizer clinical trial took place last year when the Delta variant was dominant. Thus, all results may be more specific to Delta.

A third possibility is that the virus has developed resistance to the antiviral drug. Although resistance is not futile, it can reduce the effectiveness of the drug. Resistance is why flu antivirals such as Tamiflu may not be as effective against certain strains of flu. And with the Covid-19 coronavirus replicating so much, resistance could very well develop. Every time SARS-CoV-2 replicates, it can look like a drunk person making photocopies of their butt. Mistakes can occur when the virus tries to copy its genetic code, leaving resulting offspring with mutations and therefore different genetic sequences. Some of these mutations may alter viral proteins enough to allow the virus to better evade the antiviral.

Many people using the antiviral drug could then end up selecting viruses with such resistance mutations because they are better able to survive. These resistant versions could then eventually become the dominant version of the virus. This is why antiviral drugs should not be overused.

Although there was no clear evidence of resistance developing during the Pfizer Paxlovid clinical trial, the trial may not have lasted long enough to see this possibility. It will be important for public health officials to monitor the possible emergence of resistant viral strains and potentially limit the use of Paxlovid if such resistance is discovered.

A fourth possibility is reinfection. Could some of the supposed relapse cases actually be people infected and then re-infected in a short time? I covered for Forbes one case of infection of a person with the Omicron variant within 20 days of infection with the Delta variant. But it’s unclear how common it can be to get two separate infections in such a short time.

Ultimately, more studies, more data, and more drug monitoring are needed. All of this reminds us that while Paxlovid can be a very useful element in dealing with the pandemic, it is not a magic pill. Nothing in life is a magic bullet with the possible exception of avocados or chocolate. Relying solely on medication to “save” you if you were to catch Covid-19 could be like relying on finding a soul mate to save you from your current life. Don’t think that the existence of Covid-19 treatments can cause you to forego other Covid-19 precautions such as wearing face masks and getting vaccinated against Covid-19. Remember that Covid-19 interventions are like Swiss cheese, not that you should start putting them on your ham sandwich. Rather, it means that each individual precaution or treatment has its specific set of holes. And the hole thing means you should always layer at least several interventions on top of each other as long as the pandemic continues and the virus circulates widely around you. If you don’t maintain other Covid-19 precautions and rely solely on getting Paxlovid when needed, the Covid-19 coronavirus could very well catch you on the rebound.

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Acute myeloid leukemia subtypes: FAB and WHO classifications https://www.novascotiadownsyndromesociety.com/acute-myeloid-leukemia-subtypes-fab-and-who-classifications/ Mon, 16 May 2022 23:51:04 +0000 https://www.novascotiadownsyndromesociety.com/acute-myeloid-leukemia-subtypes-fab-and-who-classifications/ Acute myeloid leukemia (AML) is the The most common type of leukemia diagnosed in adults. The American Cancer Society estimates that 20,050 people will be diagnosed with AML in 2022. AML goes by many other names, such as: acute granulocytic leukemia acute non-lymphocytic leukemia acute myeloid leukemia acute myeloid leukemia Doctors divide AML into subtypes […]]]>

Acute myeloid leukemia (AML) is the The most common type of leukemia diagnosed in adults. The American Cancer Society estimates that 20,050 people will be diagnosed with AML in 2022.

AML goes by many other names, such as:

  • acute granulocytic leukemia
  • acute non-lymphocytic leukemia
  • acute myeloid leukemia
  • acute myeloid leukemia

Doctors divide AML into subtypes based on characteristics of the cancer cells. Identifying which subtype you have can be very important in determining the best treatment and predicting your outlook.

Read on to learn more about the subtypes of AML and the different systems used to classify them.

Doctors divide most types of cancer into stages based on the size of the tumor and how far it has spread. However, unlike most cancers, AML does not usually cause tumors. Doctors divide AML into subtypes rather than stages to predict outlook and guide treatment.

Two main classification systems have been used to categorize AML:

  1. Franco-American-British (FAB) system. A group of researchers created the FAB system in the 1970s. This system classifies AML into subtypes M0 through M7, primarily based on how the cancer cells look under the microscope.
  2. World Health Organization (WHO) system. The WHO system is now the main system used to classify AML. It takes into account more factors known to influence a person’s outlook, such as genetic mutations or “abnormalities” in chromosomes.

Diagnose AML subtypes

Diagnosing AML begins with a physical exam and a review of your medical history. If your doctor suspects blood cancer, they will order blood tests to help look for signs of leukemia. These often include:

  • a complete blood count to identify an abnormally high white blood cell count or low red blood cell and platelet count
  • a peripheral blood smear to look for atypical features in the size and shape of your blood cells

To confirm a diagnosis of LAM, doctors take a small sample of your bone marrow for laboratory analysis. This sample is usually taken from your hip bone.

The cells from your sample will be analyzed in the laboratory to distinguish your cancer from other types of leukemia and to look for certain genetic mutations. these trials include:

  • immunophenotyping (flow cytometry)
  • cytogenetic analysis (karyotyping)
  • polymerase chain reaction (PCR)
  • DNA sequencing

The FAB system classifies AML based on the type of cells in which the cancer grows and the maturity of those cells.

the subtypes in the FAB system are:

The WHO system is now the main system used to classify AML. the WHO International Classification of Diseases 11 (ICD-11)which became effective in January 2022, lists the following subtypes:

  • AML with recurrent genetic abnormalities. These subtypes are associated with certain genetic changes and are additionally categorized as:
    • LAM (megakaryoblastic) with a translocation between chromosomes 1 and 22
    • AML with chromosome 3 translocation or inversion
    • AML with a translocation between chromosomes 6 and 9
    • AML with a translocation between chromosomes 8 and 21
    • AML with a translocation between chromosomes 9 and 11
    • AML with chromosome 16 translocation or inversion
    • APL (acute promyelocytic leukemia) with the PML-RARA fusion gene
    • AML with the mutated MNP1 embarrassed
    • AML with two mutations of CEBPA embarrassed
    • LAM with the BCR-ABL1 (BCR-ABL) fusion gene (not yet known if this is a unique group)
    • LAM with mutated RUNX1 gene (not yet known if this is a unique group)
  • AML with changes related to myelodysplasia
  • treatment-related myeloid neoplasms
  • myeloid sarcoma
  • myeloid proliferations linked to Down syndrome
  • blast plasmacytoid dendritic cell neoplasm
  • LAM, not elsewhere classified. These AML subtypes do not fit into any of the other categories. They closely follow the FOB classification and include:
    • acute basophilic leukemia
    • acute panmyelosis with fibrosis
    • LAM with minimal differentiation (M0)
    • AML without maturation (M1)
    • AML with maturation (M2)
    • acute myelomonocytic leukemia (M4)
    • acute monoblastic/monocytic leukemia (M5)
    • pure erythroid leukemia (M6)
    • acute megakaryoblastic leukemia (M7)

A translocation occurs when one part of a chromosome changes to another.

Doctors use AML subtypes to help guide treatment decisions. The main treatment for most types of LAM is chemotherapy. Some types of AML like promyelocytic leukemia are treated with different drugs than other subtypes.

When determining the best treatment, doctors also consider other factors such as:

  • your age and general health
  • specific genetic mutations
  • chromosomal irregularities
  • markers on leukemia cells, such as the CD34 protein
  • blood cell count

Knowing your AML subtype can be very important in determining your prospects. Certain subtypes are linked to more favorable or less favorable outcomes.

For example, AML with changes related to myelodysplasia and treatment-related myeloid neoplasms tend to have a poor outlook compared to other types of AML.

Many other factors also play a role in determining your outlook and the intensity of your treatment. Doctors call these “prognostic factors.”

Chromosomal abnormalities

Atypical characteristics of AML cell chromosomes can also influence your outlook. Changes associated with a favorable outlook include:

  • translocation between chromosomes 8 and 21
  • translocation or inversion of chromosome 16
  • translocation between chromosomes 15 and 17

Atypical characteristics associated with an unfavorable outlook include:

  • loss of one of the two copies of a chromosome
  • loss of part of chromosome 5 or 7
  • abnormalities of chromosome 11
  • translocation between chromosomes 6 and 9
  • translocation or inversion of chromosome 3
  • translocation between chromosomes 9 and 22
  • changes involving three or more chromosomes

Other factors that affect the outlook

Other factors that affect your outlook include:

AML is a type of cancer that develops in immature blood cells. It is divided into subtypes based on how the cells look under the microscope and other factors, such as the presence of certain chromosomal abnormalities or genetic mutations.

Knowing which subtype you have can be important in determining the best treatment options and your outlook. Your doctor can explain which subtype you have and how it influences your treatment plan.

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New poll shows what people with disabilities think about abortion https://www.novascotiadownsyndromesociety.com/new-poll-shows-what-people-with-disabilities-think-about-abortion/ Tue, 10 May 2022 11:06:49 +0000 https://www.novascotiadownsyndromesociety.com/new-poll-shows-what-people-with-disabilities-think-about-abortion/ Posted 2022-05-10 05:00 5:00 May 10, 2022 a m Disability has been used as something of a political football in the abortion debate. For decades, fetal abnormalities and disabilities have been part of the argument of abortion rights advocates that people need to access the procedure. Abortion advocates, on the other hand, argue that disability-motivated […]]]>

Disability has been used as something of a political football in the abortion debate. For decades, fetal abnormalities and disabilities have been part of the argument of abortion rights advocates that people need to access the procedure. Abortion advocates, on the other hand, argue that disability-motivated abortion is discriminatory and devalues ​​the lives of the disabled.

But people with disabilities themselves have been largely absent from the public debate on abortion rights. Now, new poll results, shared exclusively with The 19th, shed light for the first time on how people with disabilities view the issue.

The pollsters were temperature check on abortion since the 1970s. They asked respondents about their race, gender, religious beliefs and more. They did not, however, ask respondents if they were disabled, although some polls asked whether abortion is acceptable in cases where “the child is mentally disabled”.

The new poll, conducted by the progressive firm Data for Progress, suggests that the opinions of Americans with disabilities are broadly similar to the opinions of Americans without disabilities. The poll was taken after Politico reported on a leaked Supreme Court draft opinion that would overturn Roe v. Wade.

The national Data for Progress poll indicates that 55% of people without disabilities and 53% of people with disabilities think abortion should be legal in most circumstances, largely reflecting recent data from other survey offices.

Fifty-eight percent of all respondents would prefer Roe v. Wade stays put, while 59 percent of people with disabilities feel the same way.

“Americans with disabilities support abortion,” said Matthew Cortland, principal researcher at Data for Progress, who has led efforts to include Americans with disabilities in company polls since joining them last year. “Americans with disabilities know it affects them. Women with disabilities in particular know that this affects them.

The survey showed some differences.

People with disabilities say they are more likely to vote in November if Roe v. Wade is canceled. Forty-nine percent of respondents with disabilities said they were much or somewhat more likely to vote in November if Roe was knocked down, compared to 41 percent of respondents without disabilities.

It is impossible to know whether public opinion of people with disabilities has matched general public opinion over time. “With some other problem areas and demographics, you can say, ‘Based on five years of polls, here’s what we expect. We just don’t have that data. That’s why it’s so important that we do this,” Cortland said.

Yet even without polls to back it up, people with disabilities have long had complex views about abortion.

In “No Pity,” the seminal history of the American disability rights movement published in 1993, journalist Joe Shapiro wrote, “To their secret horror, almost every disabled person knows that if their condition had been [detected before birth]…he or she probably wouldn’t have been born at all. About two-thirds of American parents who receive a prenatal diagnosis of Down syndrome chose to terminate their pregnancies between 1995 and 2011, according to a systematic review. The numbers are just as high for spina bifidaanother common congenital disease.

Melissa Ortiz has spina bifida, and that’s part of what informs her anti-abortion stance.

“Is my life perfect? No, but I think it sucks. It’s definitely better than the alternative,” she told The 19th.

Ortiz was appointed to head the Administration for Community Living, a small Department of Health and Human Services agency dedicated to disability and aging, by President Donald Trump in 2017. She left a year later in due to health problems.

Like many seniors with lifelong disabilities, Ortiz was told she would die young. “When I was three years old, the doctors told my parents that I would be lucky to graduate from high school. Well, my 40-year reunion is coming up in a few years, and I plan to be alive for it. Doctors don’t know everything,” she said.

Ortiz has worked extensively with anti-abortion group Susan B. Anthony List and was nominated for their hall of fame in 2019 for her advocacy. She was thrilled to hear that Roe would likely be knocked down, but also felt that it still wasn’t enough. “I don’t just want abortion to be illegal. I want it to be unthinkable,” she told The 19.

Having a disability also informs a position on abortion rights for Mia Ives-Rublee, director of the Disability Justice Initiative at the progressive Center for American Progress.

“For someone like me who has osteogenesis imperfecta, who may not be able to safely bring a baby or fetus to term, my life is at stake if Roe falls,” she said. declared at 19.

But it’s not just a matter of security. Ives-Rublee believes that bodily autonomy, control over one’s own body and one’s medical choices, is central to both disability and reproductive rights. The Center for American Progress has published a detailed report on Reproductive Justice for Women with Disabilities last year, which Ives-Rublee co-authored.

In the report and in the interview, Ives-Rublee drew parallels between abortion access and other bodily autonomy issues in the disability community, such as forced sterilization.

“I think it’s extremely important for us to expand the way we talk about the impact of bodily autonomy, to include access to abortion, but to include all of these other issues that affect especially the disability community,” she said.

Ives-Rublee acknowledges a problem with the way doctors often talk to expectant parents about disability. “After genetic testing, the parent learns from all these doctors and professionals that the individual is not going to have a good life, that they may not live to adulthood, and that’s often misinformation,” she said. But for Ives-Rublee, restricting abortion is not the way to tackle the problem.

Instead, she says, the issue is “nuanced” in ways that may not be obvious to people without disabilities. “People in the disability community want people to have bodily autonomy. What we also want is for parents to get the information they need to make good, thoughtful decisions,” Ives-Rublee told The 19.

National disability organizations have also rarely tipped their card on how they view abortion. Historically, disability organizations have been reluctant to release statements indicating their views, and only two have released statements to the news that the Supreme Court appears poised to overturn Roe v. Supreme Court Wade.

Cortland says the new poll should be a wake-up call for disability organizations. “It’s really important that disability leaders realize that men and women with disabilities care about access to abortion. In the past, we have seen disability leaders fail to show up to advocate for abortion access. It’s the wrong call. Based on those numbers, it’s the wrong call, even from a transactional perspective,” Cortland told The 19th.

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Global FISH Molecular Testing Market Expected to Reach US$978.6 Million by 2027 | CAGR: 7.2%: Astute Analytica https://www.novascotiadownsyndromesociety.com/global-fish-molecular-testing-market-expected-to-reach-us978-6-million-by-2027-cagr-7-2-astute-analytica/ Sun, 08 May 2022 19:57:15 +0000 https://www.novascotiadownsyndromesociety.com/global-fish-molecular-testing-market-expected-to-reach-us978-6-million-by-2027-cagr-7-2-astute-analytica/ Astute Analytica research predicts revenue growth for Global Molecular FISH Testing Market from US$645.2M in 2021 to US$978.6M by 2027. The market registers a CAGR of 7.2% over the forecast period 2022-2027. The market is primarily driven by factors such as increasing prevalence of genomic abnormalities and cancers and increasing adoption of new molecular cytogenetic […]]]>

Astute Analytica research predicts revenue growth for Global Molecular FISH Testing Market from US$645.2M in 2021 to US$978.6M by 2027. The market registers a CAGR of 7.2% over the forecast period 2022-2027. The market is primarily driven by factors such as increasing prevalence of genomic abnormalities and cancers and increasing adoption of new molecular cytogenetic techniques.

Get a free sample of this report @ https://www.astuteanalytica.com/request-sample/molecular-fish-testing-market

Market overview

Fluorescence in situ hybridization (FISH) is a molecular cytogenetics technique in which, using molecular probes, any type of chromosomal abnormality can be precisely encountered by hybridization. It was developed by biomedical researchers in the early 1980s to detect and locate the presence or absence of specific DNA sequences on chromosomes. FISH is often used to find specific features in DNA for use in genetic counseling, medicine, and species identification. Karyotyping takes at least 3-4 days to complete the whole process while FISH method is fast, one can get results within a day. Moreover, the cell culture process is not required to perform FISH, which is one of its most important advantages. Identification of specific chromosomal abnormalities, in particular structural and numerical; Chromosomal deletion, duplication and translocation can be detected using fluorescence in situ hybridization. By using variants like SKY and M-FISH, new non-random genetic abnormalities can also be identified. FISH can also be used to detect and locate specific RNA targets in cells, circulating tumor cells, and tissue samples.

Market dynamics

Drivers:

The increasing market momentum is attributed to factors such as increasing prevalence of genomic abnormalities and cancers and increasing adoption of new molecular cytogenetic techniques. Often, parents of children with developmental disabilities want to know more about their child’s conditions before choosing to have another child. These concerns can be resolved by analyzing the DNA of the parents and the child. In cases where the child’s intellectual disability is not understood, the cause of it can potentially be determined using FISH and cytogenetic techniques. Examples of diseases diagnosed using FISH include Prader-willi syndrome, Angelman syndrome, 22q13 deletion syndrome, chronic myeloid leukemia, acute lymphoblastic leukemia, velocardiofacial syndrome, and Down syndrome. Additionally, FISH can be used to establish a diagnosis, to assess prognosis, or to assess remission of a disease, such as cancer. The treatment can then be specifically adapted. Therefore, the demand for FISH probes in the medical sector has increased due to its function in analyzing biomarkers in tumor cells. Moreover, increasing adoption of new molecular cytogenetics techniques is also propelling the growth of the market. By using variants like SKY and M-FISH, new non-random genetic abnormalities can also be identified. Spectral karyotyping or multicolor FISH is a modification of native FISH in which, by using the different color sequence specific probe, each chromosome can be painted so, chromosomal rearrangement can be accurately encountered.

Constraints:

One of the biggest challenges in using FISH techniques is its high cost. The expense of performing an advanced FISH test with complicated image analysis could be over $200,000, hampering its adoption in research labs.

Opportunities:

Investments in pharmacogenomics and pharmaceutical research are expected to provide a lucrative opportunity for expanding the FISH molecular testing market.

Regional analysis

North America Dominates the Global FISH Molecular Testing Market

North America holds the highest share of the global molecular FISH testing market in 2021 and is further expected to maintain its dominance throughout the projection period. This is due to the increasing incidence of cancer and infectious diseases in the region. In addition, a considerable number of clinical research laboratories and academic institutes are also located in the region. The United States is the largest shareholder country in the FISH molecular testing market in North America, while Mexico registers the highest CAGR during the forecast period.

Germany is the top shareholder country in the European FISH molecular testing market in 2021

Europe holds the second highest share of the global molecular FISH testing market in 2021. Germany holds the highest share of the molecular FISH testing market in Europe in 2021 owing to the growing demand for point-of-care diagnostics. service and recent advances in pharmacogenomics. Based on probe type, the entire chromosome segment holds the highest market share in 2021. Additionally, cancer research is the highest application segment in the European FISH testing market molecules in 2021.

Asia-Pacific Region Holds Highest CAGR in Global Molecular FISH Testing Market

Asia-Pacific region registers the highest annual growth rate in the global molecular FISH testing market during the forecast period. This is due to the booming cytogenetics and molecular diagnostics industries in the region. Growing acceptance of new molecular cytogenetics techniques, increasing outsourcing operations and the need for early disease diagnosis and detection are expected to drive regional expansion. China is the largest shareholder country in APAC FISH molecular testing market in 2021. Based on technology, cryo FISH technology holds the highest share in APAC market in 2021.

South Africa dominates the FISH MEA molecular testing market

South Africa is the largest shareholder country in the FISH molecular testing market in the Middle East and Africa in 2021 and registers the highest CAGR over the projection period. This is due to a growing awareness of the benefits and potential of genetic testing among the MEA population. In terms of end users, the clinical segment holds the highest share in MEA’s FISH molecular testing market.

Brazil is the market leader in FISH molecular testing in South America

Brazil is the largest shareholder country in the FISH molecular testing market in South America in 2021 due to an increased interest of Brazilian researchers in new diagnostics, as well as the high prevalence of chronic diseases in the country. Based on applications, the cancer research segment holds the highest share in the FISH molecular testing market in South America. Additionally, the breast cancer research segment holds the highest share in the cancer research segment.

Competitive overview

Key players in the global FISH molecular testing market include Thermo Fisher, Abbott Laboratories, Agilent, Oxford Gene Technology, and ARUP Laboratories, among others.

Introduction to Segmentation

The following are the different segments of the global molecular FISH testing market:

Segment by Technology of the Global Molecular FISH Testing Market is sub-segmented into:

    • FISH flow
    • FISH
    • ImmunoFISH
    • Cryo FISH
    • Other FISH

By Probe Type, the Global Molecular FISH Testing Market segment is sub-segmented into:

    • Specific locus
    • Centromeric repeats
    • whole chromosome

By Cellular Stains segment of the global molecular FISH testing market is sub-segmented into:

    • DAPI (4,6-diamidino-2-phenylindole)
    • Acridine Orange
    • Others

Segment by Application of the Global Molecular FISH Testing Market is sub-segmented into:

    • Research against cancer
      • Lung
      • Breast
      • Bladder
      • Haematological
      • Gastric
      • Prostrate
      • Cervical
      • Other
    • Genetic diseases
    • Other

Segment by End User of the Global Molecular FISH Testing Market is sub-segmented into:

    • To research
    • Clinical
    • Companion diagnosis

By region Global Molecular FISH Testing Market Segment is sub-segmented into:

    • North America
    • Europe
    • Western Europe
      • Great Britain
      • Germany
      • France
      • Italy
      • Spain
      • Rest of Western Europe
    • Eastern Europe
      • Poland
      • Russia
      • Rest of Eastern Europe
    • Asia Pacific
      • China
      • India
      • Japan
      • Australia and New Zealand
      • ASEAN
      • Rest of Asia-Pacific
    • Middle East and Africa
      • United Arab Emirates
      • Saudi Arabia
      • South Africa
      • Rest of the Middle East and Africa
    • South America
      • Argentina
      • Brazil
      • Rest of South America

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About Astute Analytica

Astute Analytica is a global analytics and consulting company that has built a solid reputation in a short time, thanks to the tangible results we have delivered to our clients. We pride ourselves on generating unrivaled, thorough and incredibly accurate estimates and projections for our highly demanding clients spread across different verticals. We have a long list of satisfied and repeat customers from a wide range including Technology, Healthcare, Chemicals, Semiconductors, FMCG and many more. These satisfied customers come to us from all over the world. They are able to make well-calibrated decisions and take advantage of highly lucrative opportunities while overcoming fierce challenges, all because we analyze for them the complex business environment, existing and emerging opportunities by segment, technology formations , growth estimates and even the strategic choices available. In short, a complete package. All of this is possible because we have a team of highly qualified, knowledgeable and experienced professionals including business analysts, economists, consultants and technology experts. In our list of priorities, you, our patron, come first. You can be sure of the best cost-effective and value-added package from us, should you decide to engage with us.

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“Into the Night” is a unique theatrical collaboration • St Pete Catalyst https://www.novascotiadownsyndromesociety.com/into-the-night-is-a-unique-theatrical-collaboration-st-pete-catalyst/ Fri, 06 May 2022 13:00:38 +0000 https://www.novascotiadownsyndromesociety.com/into-the-night-is-a-unique-theatrical-collaboration-st-pete-catalyst/ There’s an extraordinary confluence of good stuff on stage this weekend at Studio Grand Central in St. Petersburg – a perfect storm of story, screenplay, positivity and performance skill. In the night, an original play by Rosalind Cramer and Linda MacCluggage, is performed inside the intimate theater this weekend, Friday and Saturday nights and Sunday […]]]>

There’s an extraordinary confluence of good stuff on stage this weekend at Studio Grand Central in St. Petersburg – a perfect storm of story, screenplay, positivity and performance skill.

In the night, an original play by Rosalind Cramer and Linda MacCluggage, is performed inside the intimate theater this weekend, Friday and Saturday nights and Sunday afternoons.

It is the story of widow Claire Fallon and her son Benny, who has Down syndrome, an intellectual disability caused by a genetic disease. Things are happening in the lives of mother and son, things that are sure to change their relationship and their respective futures.

In the night is a collaboration with Theater eXceptional, the Pinellas-based organization that produces theater with adults with disabilities, with the aim of educating the public and eliminating the stigma that tends to surround intellectual disabilities.

And actors love to do it.

MacCluggage, a Sarasota resident, met Theater eXceptional director Brianna Larson several years ago when they were both cast in a play. Larson explained what his company, founded in 2015, does.

“I started thinking, ‘Let’s tell a story about some people with cognitive disabilities,'” McCluggage recalls. “We never, ever hear their stories.”

Attached to the project from the earliest days was Ryan Prince, a regular performer in Larson’s productions. Prince, who has Down syndrome, was McCluggage’s first and only choice to play Benny. He is 27 years old.

“I have no direct experience with a family member with Down syndrome,” she says. “I did a lot of research and we definitely met Brianna’s students, took a few classes…and then when I started working with Ryan, we became good friends.

“His passion is acting, the same way Benny’s passion is art. And he’s a huge movie buff. The first time I met him, I was directing Harvey; He tells me what year the movie was shot and who was there.

The Bear character in In the night bears more than a passing resemblance to Harvey, the Invisible Rabbit.

In this production, the cast includes several familiar faces, professional actors from both sides of the bay – Nicole Jeannine Smith (who plays Claire), Roz Potenza, MacKenzie Aaryn, Ward Smith and Matthew Frankel.

Their interaction with Prince’s Benny, with each other, and with Sally Norris, another outstanding performer in the theater, drives the story forward at a brisk pace. “To me, it’s just a realistic story – as much as possible – of a young adult’s coming of age,” MacCluggage says. “But a young person whose history we don’t see.”

Potenza plays Benny’s grandmother, Rose.

MacCluggage says she named the character after her co-writer Rosalind (Roz) Cramer, who died of cancer in 2017, while In the night was in its infancy.

Cramer, like MacCluggage, a veteran “theater man”, was undergoing treatment when they began working on the story. “I would come, we would sit at the kitchen table and talk about it. It was a great way to kind of be with a friend who was going through something.

“And we did a reading before he passed away, at the Sarasota Art Center. Her kids came, and it was wonderful, and I remember her daughter saying to me, “That was awesome — my mom was a writer tonight, and not just a cancer patient.”

MacCluggage promised her friend that In the night would continue.

Equal parts drama, comedy, fantasy and reality check, In the night unlike anything else on the Tampa Bay stages in recent memory. It will affect people in different ways.

“In many ways, the story is Claire’s story,” says MacCluggage. “It’s about how she changes. Because Benny isn’t really changing – it’s just that Benny is finally able to say what he wants, and his mom sees it.

“I had a couple moms come up to me after the premiere this week and said, ‘Oh…that was so real. Because that’s a problem when you have an adult child with a disability – helping him find his independence, or putting up barriers for him because we’re too afraid of him finding his independence.

And the playwright/director has a wish for her audience. “I hope it’s a chance for them to open their eyes a bit and say, ‘Oh. He’s just a different person. A young person who probably wants the same things that all young people want.'”

Find tickets here.

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This biomarker can predict your risk of Alzheimer’s disease https://www.novascotiadownsyndromesociety.com/this-biomarker-can-predict-your-risk-of-alzheimers-disease/ Wed, 04 May 2022 20:06:15 +0000 https://www.novascotiadownsyndromesociety.com/this-biomarker-can-predict-your-risk-of-alzheimers-disease/ Researchers say they have discovered that a biomarker detected in the blood could indicate the risk of developing Alzheimer’s disease. Deaths related to Alzheimer’s disease have increased by more than 30% between 1999 and 2019. There is no cure for the disease. Researchers from the National University of Ireland at Galway and Boston University say […]]]>

  • Researchers say they have discovered that a biomarker detected in the blood could indicate the risk of developing Alzheimer’s disease.
  • Deaths related to Alzheimer’s disease have increased by more than 30% between 1999 and 2019.
  • There is no cure for the disease.

Researchers from the National University of Ireland at Galway and Boston University say they have discovered a biomarker found in the blood that could help identify those most at risk of developing Alzheimer’s disease years before symptoms do not begin to manifest themselves.

The study was recently published in the Journal of Alzheimer’s Disease.

According to Centers for Disaster Control and Prevention (CDC), deaths related to Alzheimer’s disease increased by 33% between 1999 and 2019.

For this study, the lead author of the study Emer McGrathPhD, an associate professor in the College of Medicine Nursing and Health Sciences at NUI Galway, told Healthline the team analyzed blood samples from 52 healthy adults, which were then examined by specialized PET brain scanners.

Adults participated in Framingham Heart Studya decades-long study originally initiated by the National Heart, Lung, and Blood Institute in the United States

The blood samples were taken from people who had no symptoms of cognitive decline and who had been tested at a typical level of cognition at the time.

Specialized PET scans were performed an average of seven years after blood work. These special tests can detect the amount of an abnormal protein called ß-amyloid is detected in the brain.

This protein is associated with an increased risk of Alzheimer’s disease.

The researcher’s analysis revealed that high levels of a biomarker called P-tau181 were associated with greater accumulation of ß-amyloidwhich probably means an increased risk of Alzheimer’s disease.

According to the researchers, further analysis revealed that this biomarker performed better than two others in predicting future signs of ß-amyloid on brain scans.

“Preliminary data has already shown a strong association between P-tau181 and the risk of progression to dementia in people with mild cognitive impairment,” McGrath said. “Furthermore, studies of patients with dementia and autopsy series to date have shown higher levels of P-tau181 in people with dementia compared to those without.”

She pointed out that this study adds to existing evidence by demonstrating a significant association between the presence of P-tau181 and the risk of abnormal amyloid protein formation in the brain.

McGrath pointed out that identifying the disease at a preclinical stage before the onset of memory problems means having the ability to alter the course of the disease. There is currently no cure for the condition, but there are a few treatments that can relieve symptoms.

“We need valid, accessible and practical biomarkers for dementia, and especially preclinical dementia, so that we can accurately and reliably predict people at high risk of developing dementia,” said McGrath.

McGrath explained that his findings could potentially improve the way we detect and treat disease.

“This biomarker could be used to identify people at risk of developing dementia before the onset of any cognitive symptoms such as memory problems or behavioral changes,” she said. “For example, it could potentially [be] used as a screening blood test in primary care practices down the line.

However, McGrath warned that more studies are needed to identify appropriate cutoff values ​​for blood tests so that people at high risk of developing dementia can be distinguished from those at low risk.

She added that P-tau181 could also be used to identify participants in clinical trials of upcoming new therapies.

“Most risks of developing AD [Alzheimer’s disease] may be attributed to genetics, especially first-generation relatives of patients diagnosed with early dementia are at increased risk for Alzheimer’s disease,” said Ishwara SankaraMD, Neurointensivist at Texas Health Harris Methodist Hospital Fort Worth and Texas Health Physicians Group

According to Sankara, there are risk factors that can be modified to reduce our risk.

“Modifiable risk factors may include cerebrovascular disease, diabetes, hypertension, obesity and dyslipidemia, particularly if developed in midlife (those under 50) have also been linked at an increased risk of developing Alzheimer’s disease,” he said.

Sankara noted that patients with a history of head trauma or even physical and mental inactivity are also at higher risk of developing AD.

Sankara said that although there are no disease-modifying cures for Alzheimer’s disease yet, experts are hopeful that experimental drugs may prove effective in the future.

“There are research drugs in development that show promise,” he continued. “Unfortunately, none of the drugs tested in clinical trials to date have been shown to alter the course of the disease.”

Training and being active have been watch to delay the development or progression of AD.

“Regular exercise along with healthy eating habits can help reduce the risk of Alzheimer’s disease,” he said.

“Controlling modifiable risk factors, such as high blood pressure, diabetes, and cholesterol, with smoking cessation has been shown to help delay the development of Alzheimer’s disease. “.

Researchers have discovered a marker in the blood of certain people that could predict who will develop Alzheimer’s disease up to seven years before symptoms appear.

Experts say the discovery could allow doctors to alter the course of the disease or even stop it.

They also say there are lifestyle changes we can make to slow disease progression or significantly reduce the risk of developing AD.

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Inclusion can make a big difference in the lives of people living with Down syndrome in Nigeria https://www.novascotiadownsyndromesociety.com/inclusion-can-make-a-big-difference-in-the-lives-of-people-living-with-down-syndrome-in-nigeria/ Sun, 01 May 2022 08:35:38 +0000 https://www.novascotiadownsyndromesociety.com/inclusion-can-make-a-big-difference-in-the-lives-of-people-living-with-down-syndrome-in-nigeria/ Thelma Chioma Abeku I had a conversation with a mother whose son was born with Down syndrome and one of her biggest challenges was “people’s insensitivity to her plight as a parent and her son’s condition”. She spoke of the time a stranger scolded her for abusing her five-year-old boy who, because he hadn’t mastered […]]]>

Thelma Chioma Abeku

I had a conversation with a mother whose son was born with Down syndrome and one of her biggest challenges was “people’s insensitivity to her plight as a parent and her son’s condition”. She spoke of the time a stranger scolded her for abusing her five-year-old boy who, because he hadn’t mastered potty training yet, was still wearing diapers. The stranger continued to brag about her own toddler who already knew how to use the potty without needing much help. “This kind of embarrassing situation is what I go through most of the time,” she said.

A chromosomal disorder

Down syndrome is one of the most common chromosomal abnormalities in humans. It is a genetic and physical disorder that occurs when an individual has an extra copy of chromosome 21. Although the risk of having a child with Down syndrome increases with the age of the mother, a baby with Down syndrome can be born to a mother of any age. It exists in all parts of the world and has a wide range of consequences on learning styles, physical traits and health.

People living with Down syndrome typically have distinct physical characteristics, unique health issues, and changes in cognitive development. Some common physical characteristics may include: upward slant eyes, low muscle tone, short stature, short neck, and small hands and feet. Alterations in their cognitive development can lead to learning disabilities and developmental delays.

Worldwide, between 3,000 and 5,000 babies are born with this chromosomal abnormality each year. Although there are people living with Down syndrome in Nigeria, there is a lack of information about the condition. The only research on Down syndrome in Nigeria was conducted in a hospital, over a period of 9 years; from April 1972 to December 1980. The results, which were published in 1982, revealed a frequency of 1 in 865 live births.

Unfortunately, people with Down syndrome in Nigeria are, more often than not, relegated to a life of drudgery and neglect by their parents and society due to the culture of stigma. They are often excluded from certain elements of society and, in extreme cases, even their right to life is denied.

People with Down syndrome, regardless of age, are people first. They are people with abilities, strengths and weaknesses like everyone else. They may have additional needs, but first they have the same needs as everyone else.

Total inclusion for all

Today as I recall my conversation with the lady, I am acutely aware that somewhere in rural or even urban Nigeria there is a person living with Down syndrome who is being denied their right to a normal and inclusive life. World Down Syndrome Day 2022 (WDSD) was celebrated in March, with the theme “What does inclusion mean? This is a relevant question because for many reasons, one of which is a lack of understanding of what inclusion is and what inclusive systems look like in practice, people with Down syndrome and other disabilities do not enjoy full and effective participation and inclusion in society. .

The United Nations, in the General Principles of the United Nations Convention on the Rights of Persons with Disabilities (UN CRPD), calls for: “full and effective participation and inclusion in society”. Like everyone else, people with Down syndrome deserve to live their best life. It starts with creating an inclusive and non-segregated environment where they and their loved ones can thrive on a daily basis.

The quality of health care, education and community support that people with Down syndrome receive makes a real difference in their progress throughout life. Raising children with Down syndrome involves providing the appropriate information, resources, and support to students, their parents, and educators to ensure they receive the right upbringing that equips them to live a full life. of choice. Providing them with adequate health care also means ensuring that they have access to the quality and level of care required to meet their particular and daily health needs.

It is therefore important that federal and state governments adopt policies that provide free, inclusive educational programs for people with Down syndrome at all levels, as well as a package of health care benefits for them. This is what inclusion means. We must commit to educating ourselves to raise awareness for people living with Down syndrome and other disabilities to destroy all forms of prejudice and end all forms of stigma to ensure that everyone is treated with empathy and compassion.

Chioma Abeku is Information and Research Officer at Nigeria Health Watch

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