Down syndrome

A guide to Down syndrome including symptoms and diagnosis of this genetic, chromosomal disease.Feb. 25, 2020, 11:29 AM PST / Source: TODAYBy Ronnie Koenig

Chances are you have met someone with Down syndrome, one of the most common chromosomal conditions. But there’s a lot to learn about it beyond its physical traits.

For one thing, individuals with Down syndrome are capable of achieving many things and living full lives. And by knowing more about the genetic disorder, it can only help to ensure an inclusive environment for all individuals with Down syndrome and reverse the stigma associated with having different abilities.What is Down syndrome?

Down syndrome is a genetic disorder that often results in distinct physical differences and intellectual disability. According to the Centers for Disease Control, each year about 6,000 babies are born with Down syndrome, making it the most common chromosomal disorder. That’s about 1 in every 700 newborns. Caused by abnormal cell division that results in extra genetic material on chromosome 21, this extra full or partial chromosome results in the developmental and physical differences seen in those with the disorder.What causes Down syndrome?

Most of the time, Down syndrome is not inherited. Instead, it is caused by abnormal cell division. These chromosomal abnormalities are much more prevalent in mothers of advanced maternal age — specifically over the age of 35.

Human cells typically contain 23 pairs of chromosomes — one from the mother and one from the father in each pair. When there is an extra chromosome 21, the result is Down syndrome. There are three genetic variations of Down syndrome:

  1. Trisomy 21: This occurs when there is a third copy of chromosome 21. This is the most typical cause of down syndrome.
  2. Mosaic Down syndrome: Only some cells in the person have an extra copy of chromosome 21. This genetic cause is considered rare.
  3. Translocation Down syndrome: This happens when genetic material from chromosome 21 attaches to another chromosome.

There are no known environmental factors thought to cause down syndrome.Down syndrome symptoms

Down syndrome is usually diagnosed during pregnancy through genetic screening or at birth through diagnostic tests. There are some distinct physical features that typically occur in individuals with Down syndrome:

  • Flattened face
  • Upturned eyelids
  • Protruding tongue
  • Small head
  • Shorter stature

Intellectual disabilities in those with Down syndrome are common and can range from mild or moderate to severe.Down syndrome risk factors

In most cases, Down syndrome is not inherited. Translocation Down syndrome can be passed from parent to child, but this is rare. In these cases, the parent may have extra genetic material from chromosome 21 but no signs of Down syndrome themselves.

Advanced maternal age is thought to be the greatest risk factor for Down syndrome, as a mother’s eggs, when older, have more chance of chromosomal abnormalities. Already having one child with Down syndrome does increase the risk of having another baby with the disorder. A genetic counselor can be helpful in this situation.Down syndrome complications

Many babies born with Down syndrome also have a congenital heart defect that may require surgery in infancy. Other complications include gastrointestinal problems, an increased risk of developing autoimmune disorders, higher instances of childhood leukemia and a greater possibility of dementia in adults over 50. People with Down syndrome also have weaker muscle tone and a higher likelihood of obesity.Down syndrome life expectancy

Despite the many complications and challenges, most babies with Down syndrome can grow up to lead productive, fulfilling lives. With early intervention, many children attend mainstream schools and learn the needed skills to live independently as adults. Life expectancy for those with Down syndrome has increased markedly since 1960 when it was very low. Depending on the severity of accompanying health problems, an individual with Down syndrome can expect to live past age 60.Down syndrome treatment

There is no way to prevent or cure Down syndrome. But through education, support groups and the right team of health care providers, a child with Down syndrome can go on to succeed, achieve and lead a happy life.

Mediterranean diet linked to gut microbiome improvements

Tarini Shankar Ghosh, Ph.D.,

New research has found that older people who adhered to a Mediterranean diet for a year had healthier gut microbiomes and improved measures of frailty.

 new study shows that older individuals who follow a Mediterranean diet have better gut health and reduced frailty.

Mediterranean-type diets — rich in vegetables, legumes, nuts, and whole grains and typically excluding red meat — have been the subject of numerous studies about health and nutrition.

Existing research has found that many people who follow a Mediterranean diet may have better heart and metabolic healthlive longer, and may even have better mental health.

A new study conducted by specialists from institutions in eight countries — including the University of Bologna, in Italy, and University College Cork, in Ireland — is now adding to the list of potential benefits brought on by a Mediterranean diet.

The researchers — who report their findings in the journal Gut — worked with data from a cohort of more than 600 older adults in five countries. They found that, across the spectrum, a Mediterranean diet seemed to improve aging individuals’ gut health and reduce frailty.

Seeking to reduce frailty

The study’s authors point out that previous research has suggested that a simple dietary intervention such as switching to a Mediterranean-style diet might reduce frailty in older people.

This is important because frailty involves the gradual breakdown of multiple systems at once, often involving widespread, low-grade inflammation that further contributes to poor health.

To verify that switching to a Mediterranean diet could lower measures of frailty, the researchers involved in the current study recruited 612 individuals aged 65–79.

Medical exams showed that 28 of the study participants qualified as “frail,” 151 were on the verge of frailty, and 433 showed no signs of frailty.

The participants came from France, Italy, the Netherlands, Poland, or the United Kingdom.

Of the total number, 323 individuals (141 men and 182 women) agreed to follow a Mediterranean-type diet for 1 year, while the rest continued with their usual diets and acted as a control group.

The Mediterranean diet involved was rich in vegetables, legumes, fruits, nuts, olive oil, and fish. It featured very little red meat and few dairy products or saturated fats.

Better bacterial diversity in the gut

To understand the diet’s effects on the health of older individuals, the researchers started by examining the impact on gut health.

That was because previous studies have suggested that older individuals — particularly those who live in residential care facilities — tend to have less healthy gut microbiotas, possibly as a result of more restrictive diets.

In turn, an unhealthy gut corresponds to poorer overall health and faster onset of frailty in older adults.

When the researchers compared the compositions of the gut microbiomes of participants who had followed a Mediterranean diet for a year with those of participants who had followed their usual diets, they found significant differences.

Stool samples revealed that after 12 months on the Mediterranean diet, the participants had better bacterial diversity in the gut, compared with peers from the control group.

Moreover, better gut bacterial diversity was associated with improved markers of frailty, including better walking speed, better handgrip strength, and improved cognitive functioning.

Participants who had adhered to the Mediterranean diet also displayed fewer markers of chronic low-grade inflammation.

Why Mediterranean diets may be beneficial

Looking more closely at what was happening in the participants’ guts, the researchers found that health improvements were associated with richer populations of bacteria that produce beneficial short-chain fatty acids, on the one hand, and decreased populations of bacteria that produce bile acids, on the other.

The researchers explain that when bacteria release too much of certain bile acids, it is associated with an increased risk of insulin resistance, fat buildup in the liver, cell damage, and even bowel cancer.

According to the researchers, the positive changes were likely thanks to the Mediterranean diet having provided a consistent source of key nutrients, including dietary fiber and crucial vitamins and minerals, such as vitamins C, B-6, and B-9, as well as copper, potassium, iron, manganese, and magnesium.

When they adjusted their findings for potential confounding factors, such as age and body mass index, the investigators observed that the associations between the Mediterranean diet and better gut health remained in place.

The team also noted subtle differences in participants’ microbiome changes, depending on the countries that they lived in, which speaks to the independent influences of other environmental factors.

Regardless of these variations, all of the people who followed the Mediterranean diet showed the same overall improvements in gut and systemic health, the researchers emphasize.

Although they caution that their research was observational, and thus cannot point to a direct causal relationship, the investigators write that:

“By protecting the ‘core’ of the gut microbial community, adherence to the [Mediterranean] diet could facilitate the retention of a stable community state in the microbiome, providing resilience and protecting from changes to alternative states that are found in unhealthy [individuals].”

While they continue to maintain that the Mediterranean diet is, overall, beneficial, the researchers acknowledge that it may be impractical for some older people — an obstacle that healthcare professionals will have to contend with.

“In some older [people] with problems like dentition, saliva production, dysphagia, or irritable bowel syndrome, adapting a [Mediterranean diet] may not be a realistic option,” the researchers caution in their study paper.

Conway Medical Center showcases new robotic surgery machine

By Patrick Lloyd | 2020 WMBF.

CONWAY, S.C. (WMBF) – Conway Medical Center showed people its new robotic surgery machine Tuesday afternoon.

The machine is known as the da Vinci Robotic Surgery Platform. It can assist in many kinds of procedures, including weight loss surgery, but Tuesday’s presentation focused on how it helps give patients relief from hernias.

“In the United States of America, 800,000 inguinal hernias are fixed every year, and a half a million of every other kind of hernia is fixed every year,” Dr. Aaron Epstein said. “This is general surgery. This is what we do.”

Epstein gave Tuesday’s presentation. He said it’s important to note the surgeon is in control of the machine.

“I’m not walking out of the room and hitting an autopilot button and coming back when it’s done,” he said. “I’m actually putting my arms and forearms and my face into a three dimensional camera, and everything I do with my feet, my forearms, my wrists and my fingers is then transmitted to the forearms on the robot with different instruments that have pinchers, grabbers, cutters, pliers, everything I need to do to do an operation.”

Epstein said CMC just got the machines about four months ago, and they’ve since put them to good use. He noted he’s much more excited to come into work every day now that the machines are there.

There are some major benefits from using this technology.

2020 New Year’s resolution: How to eat better and master your nutrition


“Lose weight,” “eat less junk food,” and “stick to a diet” top plenty of New Year’s resolution lists, but many experts say that these goals may set unrealistic expectations and set you up for failure before February even hits. Instead, doctors and registered dietician say that a more sustainable approach to managing weight, feeling good, and changing eating habits is to focus on identifying which foods nourish your body and give you the proper fuel you need to live a great life. So to jumpstart 2020, we rounded up some of the best products to help you eat well and feel your very best.

[Photo: courtesy of EverlyWell]

Find your food sensitivities
Some foods that are generally considered nutritious may not be good for you specifically, thanks to food sensitivities that can cause headaches, joint pain, fatigue, and digestive issues. To identify which foods might be the culprits, you can start elimination diet test from scratch, which can take months or years to execute properly. You can also jumpstart that process with EverlyWell’s mail-in food sensitivity test ($159), which requires just a small sample of blood. The tests, which are reviewed and approved by independent board-certified physicians, measure IgG antibodies in your bloodstream when exposed to certain foods and ingredients. (It’s important to note that this test is merely for food sensitivities, not more serious food allergies, nor can it identify is someone is lactose intolerant.) You can then use your test results to start a guided elimination diet.

[Photo: courtesy of Peter Pauper Press]

Keep a food journal
Research shows that for people interested in learning more about healthy eating habits, keeping a journal is very effective tool. During one study of nearly 1,700 participants, those who kept daily food records lost twice as much weight as those who kept no records. Additionally, a food log—like this handy, self-guided Daily Food Journal ($8)—is crucial in helping to identify eating patterns and certain foods that don’t make you feel good or cause bloating, digestive issues, headaches, and the like. If you’re going to try an elimination diet, a food journal is key. The only time we wouldn’t recommend using a food log is if you are susceptible to obsessive eating patterns or food phobias; have a history of an eating disorder; or, if for any reason, a food log makes you feel guilt, shame, or fear. If that’s the case, skip this step. Because keeping track of what you eat should make you feel mindful—not bad about yourself.

[Photo: courtesy of Seedlip]

Skip the booze
Regardless of how much (or little) you drink, anyone can all benefit from cutting back on alcohol, since consumption is linked to increased risk of cancer, heart disease, immunity issues, weight gain, muscle loss, and a slew of other not-so-fun side effects. But that doesn’t mean your dry January needs to be joyless. The botanical spirits of nonalcoholic distillery Seedlip has become a hit with high-end mixologists. Now you can try them at home with the Seedlip Distilled Non-Alcoholic Spirits Sampler ($107.50, set of 3). With only three ingredients (water, natural botanical distillates, and citric acid), these spirits are good for your health and surprisingly enjoyable for the palate. Beer lovers also have more alcohol-free options available to them, such as Wellbeing Brew Co’s non-alcoholic craft beer ($12), which only has 68 calories and contains zero grams of sugar. You can also try the award-winning nonalcoholic brews ($12) of the breakout Athletic Brewing Company.

[Photo: courtesy of Sun Basket]

But don’t skip meals
Skipping meals is a bad idea that can spike your blood sugars and lead to overeating later—and wreak havoc on your metabolism and immune system. If you find you’re simply too busy to shop for and cook your own meals and you want to avoid eating unhealthily on the run, consider a subscriptions service like the Sun Basket meal kit ($11.99 per serving for 2 people, $10.99 per serving for 4 people, regardless of frequency), which brings you a weekly box of organic and non-GMO ingredients to prepare your own meat-free or vegan meals. For people who are even more pressed for time, Sakara (starting at $239/week) delivers fresh meals, teas, and supplements that are completely organic, plant-based, gluten-free, dairy-free, non-GMO, and contain no refined sugar. No prep or cooking required.

Practice healthy holiday eating

by Natalie Allen / New Missouri State Education

A family of four enjoying a Christmas meal at home.

Announcer:                        The Missouri State Journal, a weekly program keeping you in touch with Missouri State University.

Emily Yeap:                        The holidays present us with an abundance of food, so it’s easy to overeat. To avoid eating too much and packing on extra pounds, it’s helpful to make a plan and stick with it. I’m Emily Yeap.

Here with me today to offer tips and advice about eating healthy this holiday season is Natalie Allen. She’s a registered dietician and clinical instructor of biomedical sciences at Missouri State University.

Natalie Allen:                     This is a time when probably weight loss isn’t going to happen, but make your goal to maintain your weight and to maintain some activity level just to keep your stress down, help you feel better and keep the pounds off.

Emily Yeap:                        Be selective about what you consume at a holiday meal. Eat the foods you absolutely love.

Natalie Allen:                     The key at the holidays is to think, “What food can I not live without?” Is it your grandma’s pie? Is it your mom’s mashed potatoes? Is it your famous turkey? Then certainly you want to eat some of that. No problem. But look at other foods that maybe you don’t love or that don’t mean as much to you and avoid those.

                                             Also, places where calories are hiding are things like sauces, gravies, creamy things, and then drinks. Alcoholic drinks add up calorie-wise and so do creamy drinks like eggnog. It’s not that you can’t have them, but it’s easy to drink several hundred calories in a liquid, and that doesn’t really provide you any fullness or much nutrition.

Emily Yeap:                        Try not to skip meals before a party or holiday dinner.

Natalie Allen:                     One thing to think about on the holidays is don’t save up for the big event because you’re more likely to overeat when you go. If you have a party you are going to at night, certainly still eat breakfast and lunch. Maybe eat a little bit lighter, choose more fruits and vegetables at those meals, so you can have more calories and indulge a little bit more later. But don’t not eat all day, and then go to the party because that’s going to lead to you eating way more calories than you would have. Plus it’s just not good for you.

Emily Yeap:                        If you’re going to a lot of holiday parties, Allen suggests bringing along a healthy dish.

Natalie Allen:                     It doesn’t have to be the veggie or the fruit tray. Think outside the box. There are all kinds of great things you could certainly do like a black bean salsa with

corn, red peppers and green peppers. That would look Christmassy or holiday-ish. That’s a great option as far as nutrition.

                                             Carry your own water if you need to while you’re there. Alternate it with a drink that has calories. If you bring a dessert, cut it into bite-size portions. People generally don’t need big amounts of things. Portion things out before you go. If you’re going to make salad, put it in little individualized cups already. People are more likely to choose that, and it’s already in a good half-cup portion size.

Emily Yeap:                        When faced with a buffet spread, follow this advice.

Natalie Allen:                     Your first round of the buffet, fill up with things that maybe aren’t as calorically dense. Get a little bit of food in you. Then go back and choose things that maybe you don’t take as much of, things that have a lot of calories. Then, of course, it’s very normal to have dessert.

Emily Yeap:                        When it comes to traditions, incorporate things that revolve around more than just food.

Natalie Allen:                     Think about traditions that you have in your family, things that maybe mean a lot to you that revolve around food. Keep doing those, but add in some things that might be perhaps not as food-based. For example, in my family, I make cinnamon rolls every Christmas morning. We all eat those because they’re good, and that’s part of our tradition.

                                             Another part of a tradition could be you play a game together, you take a walk together, or you watch a movie. Something that isn’t as food-based, so you have a balance of traditions and healthy, happy things for your family.

Emily Yeap:                        While you should be aware of what you’re eating, don’t get too stressed out about it. Instead, relax, celebrate and enjoy yourself.

Natalie Allen:                     I think the main thing at the holiday, as far as nutrition and health is, don’t feel bad. Don’t feel guilty. Eat the things you enjoy, and then get back on track in the new year.

Emily Yeap:                        That was Natalie Allen, registered dietitian and clinical instructor of biomedical sciences at MSU. I’m Emily Yeap for the Missouri State Journal.

Announcer:                        For more information, contact the Office of University Communications at 417-836-6397. The Missouri State Journal is available online at