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QUOTE FOR WEDNESDAY:

“Not everyone has a work schedule that resembles the traditional nine-to-five day. In fact, more than 22 million Americans work evening, rotating, or on-call shifts. You face many challenges when working non-traditional hours. It can be hard to keep up with family and friends. You may feel disconnected from the people you care about the most. You may have trouble organizing your time and activities. You may be frustrated to realize that most things are planned around the schedule of the typical day worker. It may seem like no one has your needs in mind.  Your physical health may also suffer from shift work. It can be very hard to get the sleep you need to stay well rested. This can make you more likely to get sick. It also makes you at potential that the job is hard for you to stay alert on the job.  Being tired increases the chance that you could suffer a work-related injury. Even driving home from work is a risk when you are sleepy.  Studies show that sleepiness can have a negative effect on any of the following:

1. Attention 2. Concentration 3. Reaction time 4. Memory  5. Mood.

A main challenge of shift work is that it forces you to sleep against the clock. You have an internal body clock in your brain that produces circadian rhythms.  If you work at night, you must fight your body’s natural rhythms to try and stay awake. Then you have to try to sleep during the day when your body expects to be alert.

It is a good idea to take a nap just before reporting for a night shift. This makes you more alert on the job. A nap of about 90 minutes seems to be best. Naps during work hours may also help you stay awake and alert. You may also want to take a nap during the night shift “lunch hour.” This can make you more productive and more satisfied”

UCLS Health (https://www.uclahealth.org/medical-services/sleep-disorders/patient-resources/patient-education/coping-with-shift-work)

Get better sleep – let’s look at night shift people regarding their work hours, how it effects the body and more!

Sleep isn’t just a time to rest and give your body and brain a break. It’s a critical biological function that restores and replenishes important body systems. Now, yet another study on shift workers shows that their unusual hours may be cutting their lives short—and that’s especially true for those who have rotating night shifts, rather than permanent graveyard duty.

You wake up, feel hungry, and fall asleep each day around repeating 24-hour “circadian” cycles controlled by your body’s internal clocks. These clocks are synchronized by a central pacemaker in the brain. Cycles of light and dark are important for the function of the brain’s master clock. Other cycles, such as the behavioral activities of eating and fasting or sleeping and waking, are important for peripheral clocks in the liver, gut, and other tissues.

When you stay awake all night or otherwise go against natural light cycles, your health may suffer. Long-term disruption of circadian rhythms has been linked to obesity, diabetes, and other health problems related to the body’s metabolism.

In a study published in the American Journal of Preventive Medicine, scientists led by Dr. Eva Schernhammer, an epidemiologist at Brigham and Women’s Hospital, studied 74,862 nurses enrolled in the Nurses’ Health Study since 1976. The nurses were an ideal group for studying the effects of rotating night shifts on the body, since RNs tend to have changing night shift obligations over an average month rather than set schedules.

After 22 years, researchers found that the women who worked on rotating night shifts for more than five years were up to 11% more likely to have died early compared to those who never worked these shifts. In fact, those working for more than 15 years on rotating night shifts had a 38% higher risk of dying from heart disease than nurses who only worked during the day. Surprisingly, rotating night shifts were also linked to a 25% higher risk of dying from lung cancer and 33% greater risk of colon cancer death. The increased risk of lung cancer could be attributed to a higher rate of smoking among night shift workers, says Schernhammer.

The population of nurses with the longest rotating night shifts also shared risk factors that endangered their health: they were heavier on average than their day-working counterparts, more likely to smoke and have high blood pressure, and more likely to have diabetes and elevated cholesterol. But the connection between more rotating night shift hours and higher death rates remained strong after the scientists adjusted for them.

You wake up, feel hungry, and fall asleep each day around repeating 24-hour “circadian” cycles controlled by your body’s internal clocks. These clocks are synchronized by a central pacemaker in the brain. Cycles of light and dark are important for the function of the brain’s master clock. Other cycles, such as the behavioral activities of eating and fasting or sleeping and waking, are important for peripheral clocks in the liver, gut, and other tissues.

When you stay awake all night or otherwise go against natural light cycles, your health may suffer. Long-term disruption of circadian rhythms has been linked to obesity, diabetes, and other health problems related to the body’s metabolism.

Previous studies have shown that some metabolites—the products of metabolism—in blood can have daily rhythms. An international research team led by Drs. Hans P. A. Van Dongen and Shobhan Gaddameedhi at Washington State University investigated whether disruptions in these rhythms are influenced by the central pacemaker in the brain or reflect behavioral activities, such as working the night shift. The study was funded in part by NIH’s National Institute of Environmental Health Sciences (NIEHS). Results were published online in the Proceedings of the National Academy of Sciences on July 10, 2018.

Ten men and four women, aged 22 to 34 years, stayed at a research lab for one week. Half had a night-shift sleep pattern for three days and half had a day-shift pattern. The night-shift pattern causes the central pacemaker and behavioral rhythms to be at odds. After three days, the volunteers were kept awake for one day in a constant routine with a constant level of temperature and light. They received identical snacks every hour and provided blood samples every three hours.

The research team found only small differences in the day-shift and night-shift patterns for melatonin and cortisol, which mark the activity of the brain’s master clock. This finding suggests that the master clock is resistant to influence from the night-shift pattern.

The team analyzed the levels of 132 metabolites during the 24-hour constant routine. About half (65) of the metabolites had a significant daily rhythm. Of these, 27 had a significant 24-hour rhythm for both sleep patterns. Only three of these metabolites (taurine, serotonin, and sarcosine) kept the same peak time, similar to the master clock markers melatonin and cortisol. The other 24 showed a 12-hour shift in rhythm for the night-shift pattern.

The researchers noted that the particular metabolites and pathways affected by the night-shift sleep pattern relate to the liver, pancreas, and digestive tract. These findings suggest that night-shift sleep patterns can disrupt certain metabolite rhythms and the peripheral clocks of the digestive system without affecting the brain’s master clock.

“No one knew that biological clocks in people’s digestive organs are so profoundly and quickly changed by shift work schedules, even though the brain’s master clock barely adapts to such schedules,” Van Dongen says. “As a result, some biological signals in shift workers’ bodies are saying it’s day while other signals are saying it’s night, which causes disruption of metabolism.”

Further research is needed to better understand the role of these metabolic pathways in obesity, diabetes, and other medical conditions for which shift workers are at increased risk.

Nearly 15 million Americans work a permanent night shift or regularly rotate in and out of night shifts, according to the Bureau of Labor Statistics. That means a significant sector of the nation’s work force is exposed to the hazards of working nights, which include restlessness, sleepiness on the job, fatigue, decreased attention and disruption of the body’s metabolic process.

Those effects extend beyond the workers themselves, as many of us share the road with night-driving truckers, count on the precision of emergency-room workers and rely on the protection of police and national security personnel at all hours.

Now, psychologists are gaining a better understanding of how exactly night and shift work affect cognitive performance and which interventions and policies could keep shift workers and the public safer.

“The basic take-home is that fatigue decreases safety,” says Bryan Vila, PhD, a sleep expert and criminal justice researcher at Washington State University–Spokane. Learning healthy sleeping practices is “just as important as occupational training,” he says.

Poor scheduling, combined with unhealthy attitudes about the need for sleep, can cause major problems for night workers. That’s because working at night runs counter to the body’s natural circadian rhythm, says Charmane Eastman, PhD, a physiological psychologist at Rush University in Chicago. The circadian clock is essentially a timer that lets various glands know when to release hormones and also controls mood, alertness, body temperature and other aspects of the body’s daily cycle.

Possible solutions

Of course, many workers can’t give up the night shift entirely. So the question is, how can night shift workers adapt to their schedules?

Charmane Eastman, PhD. Founding Director, Biological Rhythms Research Lab.  Her education is PhD, University of Chicago / BS, State University of New York at Albany.  Her Research Areas are:  Shift work, jet lag, human circadian rhythms (especially effects of bright light and melatonin), social jet lag, circadian misalignment

There are two ways, says Rush University’s Eastman. One is through symptomatic relief by using such stimulants as coffee and caffeine pills to stay awake during the night, then taking sedatives to sleep in the morning. The other way is to shift the body’s circadian clock so that it better tolerates working at night and sleeping during the day.

Eastman and her team are exploring the latter approach. “The circadian clock is very stubborn and hard to push around,” she says.

Previous research has established that you can delay the circadian clock by about one or two hours per day. To determine that, researchers measure the body’s circadian rhythm by monitoring “dim-light melatonin onset,” or the time at which the pineal gland begins to secrete melatonin, which is triggered by the circadian clock. Normally, it kicks in a couple hours before people are ready to sleep. “It’s an output that’s a way of seeing what the circadian clock is doing,” Eastman says. “It’s a very good marker of the phase of the time of the clock.”

By exposing experimental subjects to intermittent bright light during their night shifts and having them wear sunglasses on their way home and sleeping in very dark bedrooms, Eastman and her team have found that within about a week, they can shift someone’s circadian rhythm to align perfectly with working a night shift and sleeping during the day.

Through WebMD.com it points out March 2010 the following:   In terms of lifestyle, working odd hours leads to some obvious problems. People who do shift work tend to have sleep disturbances and sleep loss. They might feel isolated, since their jobs cut them off from their friends and families. They might find it harder to exercise regularly, and may be prone to eat junk food out of a handy vending machine, says Scheer.

Including in this note, I myself, being a RN 35 years basically, who has worked all shifts (mostly 12 hr shifts than driving home and for the past 4.5 years a 2 hr drive to and back to the hospital) disagree with this statement in that preventing junk food and of course exercise in your week you need discipline in obtaining right foods, exercise and habits.  It is a challenge with no question but can be obtained if the right mind is set to it.

As WebMD points out, “The long-term effects of shift work are harder to measure. But researchers have found compelling connections between shift workers and an increased risk of serious health conditions and diseases.”.  It really depends on what where you prior to going into night shift, is it 12 hr shifts or 8 hr shifts or part time or perdiem.  It messes up the circadium cycle but you can bounce back depending on often you work night shift. ”

Remember, I point out night shift is not 3 to 11 pm but 11pm and on till am in long hours.  Since many don’t fall asleep till after 10pm and on.  Another major ingredient I would like to point out is, what is your medically history? Is this a worker with no medical history/in shape/ and great health habits? What is your age? Is this worker someone who is with diabetes?, cardiac disease?, overweight? etc…  We need to look at the whole picture always!

Scheer backs my statement up with the following: “”There is strong evidence that shift work is related to a number of serious health conditions, like cardiovascular disease, diabetes, and obesity,” says Frank Scheer PhD,. “These differences we’re seeing can’t just be explained by lifestyle or socioeconomic status.”

Scheer in Web MD states “It’s important to keep the risks in perspective. Even if performing shift work is a risk factor for some diseases, it’s only one of many — just like not getting enough sleep or eating too many sweets. If you’re in good health to begin with, the overall risks to any given person performing shift work remain low.  Scheer states he cautions that the implications of the study, which was published in the Proceedings of the National Academy of Sciences in 2009, are limited. A small laboratory experiment can’t fully reflect what’s happening to actual shift workers. It’s also possible that some of these health effects might improve as people get used to shift work. On the other hand, it’s also possible that these effects would just worsen over time. For now, we don’t know.

Keep in mind the things listed in books, internet and etc… are all based on experiments with including theory/principle based on knowing how the anatomy and physiology of the body works under stress or not stressed and how the body is taken care of by that individual is a major role in the turn out of night shift working.

QUOTE FOR TUESDAY:

“National Foot Health Awareness Month is observed in April to raise critical awareness regarding our foot health. Understanding the value of healthy feet is essential. Below, our experts share important tips, tricks and fascinating facts on one of the most important parts of our body–our feet!

Step Into April On A Good Foot With These Tips and Tricks 

  • Inspect your feet regularly and pay attention to changes in color, texture or appearance.
  • Maintain good foot hygiene, including washing and drying between the toes.
  • Hydrate the skin. Southern California weather and open shoes can cause rapid loss of moisture from the skin and may result in cracking or the formation of fissures. It is helpful to replace the moisture content by using lotions or creams on a regular basis.
  • Don’t ignore foot pain. Symptoms that increase or do not resolve within a reasonable period of time need to be evaluated by your podiatric physician.”

Feet First Foot Care Specialists LLC-conservative and surgical foot care – posted: Mar. 31, 2023-Dr. A. Mucinska

(https://www.feetfirst-footcare.com/staff)

Foot Health Awareness Month – Tips for happy healthy feet!

 

10000 steps=5 miles

April is National Foot Health Awareness Month and research shows that approximately 20 percent of Americans experience at least one foot problem each year. These issues can be the result of an underlying health problem such as obesity, diabetes, or peripheral neuropathy.

Today Dr. Amanda Bartell and Dr. Andrew Bartell of North Florida Foot & Ankle Center in Jacksonville, FL, Southside, and Duval County are sharing their tips for happy, healthy feet!

  • Examine your feet each day, using a mirror – if needed – to inspect the bottom of your feet for cracks, peeling, injuries or dry skin. This is particularly important if you have diabetes to avoid a non-healing wound.
  • Wear shoes in public areas where your feet can be scratched or cut, leading to infection, athlete’s foot or plantar warts.
  • Replace the shoes you wear to exercise every six months or 500 miles to avoid heal and foot pain when the inside of the shoe begins to lose support.
  • Stretch your ankles, lower legs and feet daily and before any activity to avoid injury.
  • Thoroughly dry your feet and between your toes after bathing to reduce the risk of fungal infections. Follow up by applying a good moisturizer.
  • Don’t leave polish on nails all the time as it can lead to fungal toenails.
  • Apply sunscreen on ankles and between toes to avoid sunburn and guard against skin cancer.
  • There is a good chance you will not wear the same size in shoes your entire life, so have them measured on a regular basis.
  • Maintain a healthy weight because extra weight puts pressure on the feet, often causing heel or foot pain, circulatory problems, arthritis, and stress fractures.
  • Try to wear shoes with good support and a low heel and use custom orthotics to provide proper arch support.

QUOTE FOR MONDAY:

“A good laugh has great short-term effects. When you start to laugh, it doesn’t just lighten your load mentally, it actually induces physical changes in your body.

Laughter or humor in short term changes it does this to the body:

  • Stimulate many organs. Laughter enhances your intake of oxygen-rich air, stimulates your heart, lungs and muscles, and increases the endorphins that are released by your brain.
  • Activate and relieve your stress response. A rollicking laugh fires up and then cools down your stress response, and it can increase and then decrease your heart rate and blood pressure. The result? A good, relaxed feeling.
  • Soothe tension.Laughter can also stimulate circulation and aid muscle relaxation, both of which can help reduce some of the physical symptoms of stress.

Laughter or humor in Long Term Effects it does this to the body:

  • Improve your immune system. Negative thoughts manifest into chemical reactions that can affect your body by bringing more stress into your system and decreasing your immunity. By contrast, positive thoughts can actually release neuropeptides that help fight stress and potentially more-serious illnesses.
  • Relieve pain. Laughter may ease pain by causing the body to produce its own natural painkillers.
  • Increase personal satisfaction. Laughter can also make it easier to cope with difficult situations. It also helps you connect with other people.
  • Improve your mood. Many people experience depression, sometimes due to chronic illnesses. Laughter can help lessen your stress, depression and anxiety and may make you feel happier. It can also improve your self-esteem.”

MAYO CLINIC (https://www.mayoclinic.org/healthy-lifestyle/stress-management/in-depth/stress-relief/art-20044456)

National Humor Month – Laughter, Health and how it helps our lives.

 

EVER FEELING RUN DOWN?

Try laughing more. Some researchers think laughter just might be the best medicine, helping you feel better and putting that spring back in your step. “I believe that if people can get more laughter in their lives, they are a lot better off,” says Steve Wilson, MA, CSP, a psychologist and laugh therapist. “They might be healthier too.”

Recommended Related to Mind, Body, Spirit How to Get the Life You Want By Kristyn Kusek Lewis’s point of view she says:   You’ve been putting it off forever — that secret dream to start a business, write a book, run a marathon…. Whatever your desire, ignoring it means denying who you really are. And don’t you deserve better? Here, your no-excuses, no-regrets guide to answering the voice in your head that says, “I want more.” Ask yourself: Are you ready to finally tackle the burden or bad habit that’s been dragging you down? You’re many things—maybe a wife and mom, prized employee,… Read the How to Get the Life You Want article > > Yet researchers aren’t sure if it’s actually the act of laughing that makes people feel better. A good sense of humor, a positive attitude, and the support of friends and family might play a role, too.

“The definitive research into the potential health benefits of laughter just hasn’t been done yet,” says Robert R. Provine, professor of psychology and neuroscience at the University of Maryland, Baltimore County and author of Laughter: A Scientific Investigation. But while we don’t know for sure that laughter helps people feel better, it certainly isn’t hurting. Continue reading below…

Laughter Therapy: What Happens When We Laugh? We change physiologically when we laugh. We stretch muscles throughout our face and body, our pulse and blood pressure go up, and we breathe faster, sending more oxygen to our tissues. People who believe in the benefits of laughter say it can be like a mild workout — and may offer some of the same advantages as a workout. “The effects of laughter and exercise are very similar,” says Wilson. “Combining laughter and movement, like waving your arms, is a great way to boost your heart rate.”

One pioneer in laughter research, William Fry, claimed it took ten minutes on a rowing machine for his heart rate to reach the level it would after just one minute of hearty laughter. And laughter appears to burn calories, too.

Maciej Buchowski, a researcher from Vanderbilt University, conducted a small study in which he measured the amount of calories expended in laughing. It turned out that 10-15 minutes of laughter burned 50 calories. While the results are intriguing, don’t be too hasty in ditching that treadmill. One piece of chocolate has about 50 calories; at the rate of 50 calories per hour, losing one pound would require about 12 hours of concentrated laughter!

Laughter’s Effects on the Body In the last few decades, researchers have studied laughter’s effects on the body and turned up some potentially interesting information on how it affects us:

  • Blood flow – Researchers at the University of Maryland studied the effects on blood vessels when people were shown either comedies or dramas. After the screening, the blood vessels of the group who watched the comedy behaved normally — expanding and contracting easily. But the blood vessels in people who watched the drama tended to tense up, restricting blood flow.
  • Immune response – Increased stress is associated with decreased immune system response, says Provine. Some studies have shown that the ability to use humor may raise the level of infection-fighting antibodies in the body and boost the levels of immune cells, as well.
  • Blood sugar levels – One study of 19 people with diabetes looked at the effects of laughter on blood sugar levels. After eating, the group attended a tedious lecture. On the next day, the group ate the same meal and then watched a comedy. After the comedy, the group had lower blood sugar levels than they did after the lecture.
  • Relaxation and sleep – The focus on the benefits of laughter really began with Norman Cousin’s memoir, Anatomy of an Illness. Cousins, who was diagnosed with ankylosing spondylitis, a painful spine condition, found that a diet of comedies, like Marx Brothers films and episodes of Candid Camera, helped him feel better. He said that ten minutes of laughter allowed him two hours of pain-free sleep.
  • Humor is infectious – The sound of roaring laughter is far more contagious than any cough, sniffle, or sneeze. When laughter is shared, it binds people together and increases happiness and intimacy. Laughter also triggers healthy physical changes in the body. Humor and laughter strengthen your immune system, boost your energy, diminish pain, and protect you from the damaging effects of stress. Best of all, this priceless medicine is fun, free, and easy to use.  Laughter is strong medicine for mind and body.
  • Laughter – is a powerful antidote to stress, pain, and conflict. Nothing works faster or more dependably to bring your mind and body back into balance than a good laugh. Humor lightens your burdens, inspires hopes, connects you to others, and keeps you grounded, focused, and alert.  With so much power to heal and renew, the ability to laugh easily and frequently is a tremendous resource for surmounting problems, enhancing your relationships, and supporting both physical and emotional health.
  • Laughter – is good for your health.
  • Laughter – relaxes the whole body. A good, hearty laugh relieves physical tension and stress, leaving your muscles relaxed for up to 45 minutes after.
  • Laughter boosts the immune system – Laughter decreases stress hormones and increases immune cells and infection-fighting antibodies, thus improving your resistance to disease.
  • Laughter triggers the release of endorphins, the body’s natural feel-good chemicals.  Endorphins promote an overall sense of well-being and can even temporarily relieve pain.
  • Laughter protects the heart – Laughter improves the function of blood vessels and increases blood flow, which can help protect you against a heart attack and other cardiovascular problems.

REFERENCES: 1.) Melinda Smith, M.A., and Jeanne Segal, Ph.D. Last updated: April 2014.  HELPGUIDE.ORG 2)  By R. Morgan Griffin   WebMD Feature  Reviewed by Michael W. Smith, MD

QUOTE FOR THE WEEKEND:

“You don’t have to face infertility alone. Find someone to talk to who understands through our support groups, online community, and HelpLine.  We can help you find reproductive endocrinologists, urologists, mental health therapists, and other family building professionals.We help you understand and advocate for insurance coverage and for legislation that improves access to all family building options.”

Resolve – The National Fertility Association (https://resolve.org/)

Infertility Week Awareness 4/21-4/27

If you and your partner are struggling to have a baby, you’re not alone. In the United States, 10% to 15% of couples are infertile. Infertility is defined as not being able to get pregnant despite having frequent, unprotected sex for at least a year for most couples.

Infertility may result from an issue with either you or your partner, or a combination of factors that prevent pregnancy. Fortunately, there are many safe and effective therapies that significantly improve your chances of getting pregnant.

The main symptom of infertility is not getting pregnant. There may be no other obvious symptoms. Sometimes, women with infertility may have irregular or absent menstrual periods. In some cases, men with infertility may have some signs of hormonal problems, such as changes in hair growth or sexual function.

Most couples will eventually conceive, with or without treatment.

Risk Factors to being prone to this diagnose:

Age. Women’s fertility gradually declines with age, especially in the mid-30s, and it drops rapidly after age 37.

Tobacco use. Smoking tobacco or marijuana by either partner may reduce the likelihood of pregnancy.

Alcohol use. For women, there’s no safe level of alcohol use during conception or pregnancy. Alcohol use may contribute to infertility. With men it can decrease sperm count.

Being overweight. Among American women, an inactive lifestyle and being overweight may increase the risk of infertility. Sperm count for men can be affected by low sperm count.

Being underweight. Women at risk of fertility problems include those with eating disorders, such as anorexia or bulimia.

Exercise issues. A lack of exercise contributes to obesity, which increases the risk of infertility. Less often, ovulation problems may be associated with frequent strenuous, intense exercise in women who are not overweight.

When to take a trip to the doctor:

You probably don’t need to see your health care provider about infertility unless you have been trying regularly to get pregnant for at least one year. Women should talk with a care provider, the earlier the better, but if you haven’t yet go if you are:

  • age 35 or older and have been trying to conceive for six months or longer
  • over age 40
  • having irregular or absent periods or very painful periods
  • with known fertility problems
  • diagnosed with endometriosis or pelvic inflammatory disease
  • have had multiple miscarriages
  • have undergone treatment for cancer
  • have a history of endometriosis
  • have a history of fallopian tube damage or blockage
  • have a history of cancer and its treatment
  • history of pelvic adhesions

Men should talk to a health care provider if they have:

  • A low sperm count or other problems with sperm
  • A history of testicular, prostate or sexual problems
  • Undergone treatment for cancer
  • Small testicles or swelling in the scrotum
  • Others in your family with infertility problems

Know for many infertility can be treated with medicine, surgery, intrauterine insemination, or assisted reproductive technology.  So go to the doctor if you are having problems and they can give you direction.

 

 

 

QUOTE FOR FRIDAY:

“Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii) but with presence of thumbs. Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects) and kidney (renal) defects.”

NORD National Organization For Rare Diseases (https://rarediseases.org/rare-diseases/thrombocytopenia-absent-radius-syndrome/)

TAR Syndrome Month Awareness

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii) but with presence of thumbs.

Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects) and kidney (renal) defects. Affected individuals may be short for their age (short stature) and have cow’s milk intolerance.

Thrombocytopenia is congenital or develop within the first few weeks to months of life. Usually, platelet counts remain low during the first two years of life; then, they increase but do not normalize. Additional recurrent manifestations include: cardiac anomalies (atrial and/or ventricular septal defect, patent foramen ovale), gastro-intestinal involvement (cow’s milk allergy, increased susceptibility to gastro-enteritis), genitourinary anomalies (kidney agenesis or malrotation, horseshoe kidney, hydronephrosis, pyelectasis). Other rare manifestations include Mayer-Rokitansky-Kuster-Hauser syndrome, rib and vertebral anomalies, Langerhans cell histiocytosis, transient leukemoid reaction, acute myeloid or lymphoblastic leukemia. Cognitive development is usually normal.

The prevalence of thrombocytopenia-absent radius (TAR) syndrome is estimated at around 1/100,000-200,000 people.

Cause of TAR-Thrombocytopenia Absent Radius Syndrome:

TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by deletion and/or variants in the RBM8A gene.

TAR syndrome is caused by compound heterozygosity for a null (most often a 1q21.1 deletion including RBM8A) and a hypomorphic RBM8A allele.  It was demonstrated that Rbm8a is an essential neurogenesis regulator in embryonic cortical development.  Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell.

Diagnosing TAR-Thrombocytopenia Absent Radius Syndrome:

It has been reported that TAR syndrome can be accompanied by craniofacial, cardiac, digestive, urogenital, and psychiatric abnormalities, as well as by lactose intolerance(4). The diagnosis of TAR syndrome is based on ultrasound findings and fetal blood sampling by cordocentesis to determine the number of platelets.

Suggestive Findings. Thrombocytopenia absent radius (TAR) syndrome should be suspected in individuals with: Bilateral absence of the radii with the presence of both thumbs. Thrombocytopenia, usually <50 platelets/nL (normal range: 150-400 platelets/nL)

Management and Treatment of TAR-Thrombocytopenia Absent Radius Syndrome:

There is no curative treatment for TAR syndrome. Symptomatic treatment of manifestations and prevention of complications include: early detection of thrombocytopenia, prevention of bleeding and hemorrhage, platelet transfusions in case of severe thrombocytopenia, surgical interventions if required to manage cardiac, urinary or skeletal malformations, avoidance of cow’s milk.

Prognosis of TAR-Thrombocytopenia Absent Radius Syndrome:

Prognosis is variable and mainly conditioned by the severity of thrombocytopenia and its complications (intracranial, digestive hemorrhage). Cardiac defects, renal malformations, acute complications of cow’s milk intolerance, acute leukemia can also affect the prognosis.

If a patient survives the initial 2 years of life, life expectancy is normal, MedLinePlus.com states.

Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development. The severity of skeletal problems in TAR syndrome varies among affected individuals.