Let's talk about MTHFR!

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The term MTHFR stands for methylenetetrahydrofolate reductase.MTHFR is one of the more famous snp's. It is needed to make the brain chemicals of serotonin(mood😔), norepinephrine (attention👀), dopamine (pleasure💜), melatonin (sleep💤) and acetylcholine (memory🤓). It is also responsible for recycling homocysteine back to methionine.

This gene variants, can be fairly common. In North America, Europe, and Australia, about 8% to 20% of the population have 2 MTHFR C677T mutations, that is, they are homozygous. I actually carry two of these which makes me a “homozygous” and likely, inherited one from my mom and one from my dad. Probably my brothers have a variant also but I have done my own genomics a while back when I first started using medical genomics in my medical practice.

The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps your body process folate. Your body needs folate to make DNA and modify proteins.A gene variant is a change in a DNA sequence that is different from the expected DNA sequence. The most common variant in the MTHFR gene is MTHFR C677T. The other well known one, is the MTHFR A1298C.While other variants exist, these two are the best-studied changes in the MTHFR gene.

MTHFR variants affects how your body processes folate. Gene variants are common and normal. Genetic variation is what makes us all unique, whether in terms of hair colour, skin colour or even the shape of our faces.Genetic variation can also explain some differences in disease susceptibility and how people react to certain drugs or medications.

The MTHFR C677T variant is more common in some races and ethnicities than in others. Hispanic individuals are more likely than non-Hispanic whites and non-Hispanic blacks to have it. Conditions of the MTHFR gene mutation vary from person to person and from variant to variant.

MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages, and neural tube defects. Some studies also suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease. The MTHFR A1298C mutations are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia, and mood-related problems. This does not mean, you will have these conditions but may be more susceptible for these.

How do we treat the MTHFR gene mutation?

Having an MTHFR variant doesn’t mean you need medical treatment. By making certain lifestyle modifications, can be enough to address this gene, such as:

  • Lifestyle changes like following an anti-inflammatory lifestyle and diet as well as focusing in more green leafy vegetables is recommended.

  • Avoid smoking, staying active and doing regular physical activity

  • Vitamin B supplements and methylfolate are most commonly prescribed by doctors to treat MTHFR mutation and perhaps certain other vitamins if we see a benefit or need for these.

  • Treatments for any disease caused by the MTHFR mutation (e.g., for depression the use of antidepressants) may be prescribed. It could just mean you need to take methylfolate (more active form) and a vitamin B supplement.

    When i began taking methylfolate and active forms of B vitamins (had checked my levels first also), had noticed a marked improvement on my mood, obtaining better sleep and lessening my monthly migraines.

    People with this gene variant can have different symptoms or manifestations or may not have any symptoms at all. The MTHFR mutation does not affect everyone in the same way. If you don’t know if you have the MTHFR variant, a simple test to check is homocysteine levels in your blood and a quick way to treat and address this is by supplementing with folate.

    If you need personalized healthcare I am accepting new patients at Resilient Health, here in Austin, TX.

    Get in touch with me to learn more:


Check Your Boobies! It is Breast Cancer awareness Month

Check Your Boobies! It is Breast Cancer awareness Month

It’s Breast Cancer Awareness Month!

We are halfway through the month of October. Time to enjoy some of the fall weather here in Texas, Pumpkin carvings, Halloween decorations, costumes and “trick or treating”. It is my favorite time of the year. Not sure if we will do much of “Trick or treat” this year with Covid but we put up our Halloween decorations and our kids enjoy this each year. But one thing that is important to me, as a physician is creating awareness this month, for Breast Cancer.

Are you a Coffee lover or not?

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Ⓘ ⓣⓡⓤⓛⓨ ⓛⓞⓥⓔ ⓜⓨ ☕ ⓒⓞⓕⓕⓔⓔ! Actually, my genomics test showed i am a "fast metabolizer" for coffee which means i can handle several cups in a day but I only do 1 to 2 cups at the most these days.During my residency training I would even drink it cold without sugar or creamer and could spend the entire day working, without any food but had to have my coffee. I grew up in a culture where coffee was part of our everyday life and wasn’t until i went to medical school, my love and passion for coffee started. I would honestly say was drinking way too much coffee then. Not very healthy or ideal but when you need to study extra hours each day and be awake late preparing for an exam or when i was doing my calls which had quite a lot of sleepless nights in my residency, needed to have coffee to get my day going and keep working. Would drink several cups of just plain black coffee.
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Did you know there is a specific SNP (pronounced snip) that is called "Coffee Snp"? SNP stands for single nucleotide polymorphism. A SNP is a substitution of a single nucleotide at a specific position in the genome, that is present in a sufficiently large fraction of the population.SNPs may help predict an individual's response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases.
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The CYP1A2 gene codes for the CYP1A2 enzyme, which is responsible for caffeine metabolism in the liver. A particular single nucleotide polymorphism (SNP) in this gene is a major contributory factor in determining how quickly a person metabolises caffeine. People who have the C allele of this SNP are classed as being “slow” caffeine metabolizers whereas those who don’t are classed as “fast” caffeine metabolizers. Many times we have read or heard about the benefits in drinking coffee but also people may be susceptible in having side effects or have a predisposition in suffering with heart conditions due to the amount of coffee they drink. This particularly can be a problem for those who metabolize coffee more slowly. There has been studies showing people at risk for hypertension (high blood pressure) and even suffering with a MI (heart attack) having this variant and drinking too much coffee. For them, is best to limit coffee to 1 cup (or less) of coffee per day.


I was happy to know I can keep drinking my coffee without worrying about it affecting my blood pressure or making me too anxious or restless. Do you enjoy coffee as much as i do? or you cannot have one sip of it or if you do, gets your heart racing and become restless. It can be in your genes the reason why!

Some few studies to checkout!


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482684/
https://pubmed.ncbi.nlm.nih.gov/16522833/
https://pubmed.ncbi.nlm.nih.gov/19451835/


A love story for this "Cinco de Mayo"

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I am going to be somewhat personal today and write about my family, in particular, about my parents because thanks to them, I am where I am and I have achieved goals and dreams that I once thought unobtainable.

Today is May 5th. On a day like today, 53 years ago my parents got married in the First Cathedral of the Americas (first one in the new world, circa 1541). They had met through a mutual friend and fallen in love on a beach in the Dominican Republic, back in 1966. My father was on vacation on the island as he was finishing his specialty (he is a cardiologist) in Spain. My mother had graduated from UASD medical school and was starting her medical residency. Love letters were sent for an entire year, until when he returned to the Republic, they married, on May 5th, 1967.

Since then they have had their ups and downs like any other marriage but without a doubt, their love has overcome many barriers, obstacles and passed many difficulties in the beginning, trying to forge a better future for both them and their three children.

They had humble beginnings, having to live in part with one of their parents, my maternal grandmother, in a small place that my mother only told me the many hardships they encountered. Even with her first pregnancy, she still worked until the end seeing patients and the day she was ready to give birth, they took a public transportation to the hospital and received their long-awaited first-born. That year 1969 their first son was born, Ronaldo Pichardo. They did not own a vehicle, so through public transportation they mobilized in the city of Santo Domingo. Two years later my brother Asdrubal Pichardo, was born.

My parents are both doctors and I can only imagine how hard they had to work to sustain us and give us a better tomorrow. A Herculean task. Both gave consultations, classes at the university, being on duty and rounds until long hours of the nights. They had devotion (and still have it) to their trade.

When things were going well, then they built the house of their dreams and I was already in my mother's womb. So I arrived in the "golden" times or their better times since they were well established and had some recognition in my country as outstanding and respectable professionals in their respective specialties. And yes, they already had their own vehicle.

The truth is that I am very grateful to have the parents I have. Dedicated, loving, sacrificing for their children. They taught me to value many things in life and what matters. I also think that my brothers agree with me as they are men of good, hardworking and successful in their respective careers and have a beautiful, unified family. Not everything is perfect and we have had our differences throughout the years but what family does not have one! I could continue writing about their love and life story.

I love them and I really miss them. Happy anniversary💜.

With love and eternally grateful,

Your daughter,

Gabriela Pichardo-Lafontaine

Mental Health support during the Covid-19

I know many of us are suffering with some degree of stress or anxiety. Even people suffering with depression. Either is what we are seeing each day through social media (which can be overwhelming) or the fear of having the actual virus after seeing people been very sick or even dying due to this virus. But not all news is bad. There are some uplifting and positive stories of people helping each other and coming together during such an important time.

The World Health Organization put out a list of Considerations to Support Mental Health in the times of COVID-19, with one recommendation being:

The sudden and near-constant stream of news reports about an outbreak can cause anyone to feel worried. Get the facts; not rumors and misinformation. Gather information at regular intervals from the WHO website and local health authority platforms in order to help you distinguish facts from rumors. Facts can help to minimize fears.

For some, following this may be somewhat challenging, because the news is everywhere and specially when most of us are following guidelines in staying at home and practicing social distancing. We are either using our phones, computer or TV to just have a glimpse of what is going on in the “outside world”. Some are completely isolated. I personally don’t like to use the word “isolation” since thanks to social media, we are still able to maintain some connections and communication through online portal or doing virtual meetings which has helped for most of us, to stay connected. We cannot get rid of the news or social media but we can certainly moderate it and have better control over it. This is certainly a new lifestyle we have all adopted and uncertain how long will last, thou several states are starting to re-open in hopes we can have some sense of “normalcy” of what our lives used to be, pre-covid era. Soon to be determined if this was done too early or not. For now, we can consider doing few things to help for our own mental health and also to help others who may need some extra support and care.

Some useful tips and advice to follow:

·        Keep yourself informed, through reputable and reliable sources: your national and local authorities. Follow your national TV and radio. For us, here in Austin, a good source to check is the Austin Public health department and also the Texas Department of State Health Services

Other reliable, online sources:

- The CDC

-John Hopkins Coronavirus Resource center

-The World Health Organization

It is important to minimize how much you watch, read or listen to the news that makes you feel anxious or distressed. Set yourself a time of the day to do so, either 30 mins to an hour once a day or twice a day, if needed.

·        Keep regular contact with people close to you by telephone and online channels. Colleagues, friends, family. We need this connection. Perhaps they need it more than us even.

·        Help others if you are able to, supporting your local community who may need it and also support health care workers who are in the frontlines and in direct contact each day with the Covid-19.

·        Have a schedule, a routine. Same as you where doing before this started. If not, then make a new one. Get up and go to bed similar times each day, keep up with your personal hygiene, eat healthy meals at regular times, exercise regularly and even go outside to soak some vitamin “sunshine” and be on the move. There is so much benefit of this for your immune system. Some people may find themselves drinking more alcohol than they should or quitting alcohol and smoking habit much difficult during these times. Try to avoid using alcohol and drugs as a way of dealing with fear, anxiety and boredom. It is not easy but seek for help if struggling with this.

·        If facing with boredom due to having excess time at home then maybe is a good time to consider doing a new hobby or activity: be creative. This can be writing, learning a new language, learning a new musical instrument or even a new dance, like salsa. Whatever attracts you and can inspire you to do. Luckily, we do have some businesses and classes going online or doing these offerings virtually, and this may be a way to support others, that have lost their jobs or are trying to make some form of living and struggling financially. Every little help they can get, counts.

For people out there that have been struggling with mental health and this unfortunate event has created for their symptoms to flare up or worsened their condition, please stay in touch with your doctor or health care provider. Continue with your medication(s) if taking any. Get the support you need and stay in touch with your loved ones. You can consider to learn or practice some mindfulness meditation which may aid you in times of stress and anxiety. There are several apps like headspace, insight timer and calm just to name a few, that have some great tools specially for the beginners. There are online resources and even YouTube videos for some guided-meditations. Take action and don't let the feelings and emotions take over you and dictate your life.

As you see there are lots of things that we can do to look after our own mental health. Hope this can help someone and share with others. It always help also to see positive and good news online. Here’s a personal favorite website to get some good updates and news during this pandemic.

Be well and stay safe my friends!

Stress Awareness Month

Month of April is considered the "Stress Awareness Month". I have felt this past month and now with the start of April to be such a long month, full of stress, anxiety and uncertainties, with everything going on. We see a lot of people going through severe anxiety and stress (myself included) with what's going on in the world either stress with their health, finances, family and stress about getting sick or not with the #covid19.
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The thing about stress is, a little bit of it isn’t necessarily a bad thing, but too much of it can be detrimental to our emotional and physical health. Learning to find that healthy balance is the best way to live a productive, happy life.
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Here are some great ways to keep your mind clear and de-stress if you find yourself getting too overwhelmed.

1-Exercise. You’ve probably heard this one before, and even though it’s probably not exactly what you want to do when you’re feeling stressed (because laying on the couch and watching movies sounds more appealing), exercising gets endorphins pumping through your brain, which triggers a happy feeling. Exercise lowers your body’s stress hormones like cortisol, and releases chemicals that make you feel more at peace.

2-The use of certain supplements and herbs can help for your stress. Natural remedies like lemon balm (one of my favorites), omega-3 fatty acids, ashwagandha, green tea, kava and even essential oils like lavender, which the scent can be soothing and help you calm down.

3- Reduced your Caffeine intake. Excess caffeine, either in drinks or supplements can make you feel jittery and affect your stress and anxiety.

4-Practice meditation: One of the most effective ways to deal with stress is to learn how to silence the mind. Meditation is one of the most popular methods of achieving this quiet.

5- Have a good laugh. Haven't your heard the saying: Laughter is the best medicine.Spend time laughing with friends and family.

6-Visit your doctor :They're really in the best position to get your started on the path to a stress-free lifestyle. 👍😁

Stress Awareness Month has been an ongoing campaign of awareness and education since 1992.Stress Awareness Month is supported every year by the Stress Management Society. You can visit their website: www.stressawarenessmonth.com.
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HOW TO RAMP UP YOUR OWN IMMUNITY

By Gabriela Pichardo, MD

By Gabriela Pichardo, MD

The immune system is your body’s natural defense network--your internal protection against the outside world. Comprising white blood cells, bone marrow, lymph nodes, tonsils, adenoids, and the thymus, appendix and spleen, it recognizes and targets harmful agents, such as bacteria, viruses, fungi, toxins and even cancer cells. When it is weakened, you can become more susceptible to infection and disease. Unhealthy habits, from getting insufficient sleep to foregoing physical activity and not taking enough time to relax, can all wreak havoc on even the strongest immune system.

Fortunately, just as there are many different ways in which your immunity can become compromised, there are also countless integrative options for giving it a boost. We don't just need to worry about our immune system during cold or flu season or winter time. This should be year-round, because at any point you can become in contact with any pathogens specially if you are a healthcare worker, schoolteacher or travel quite a lot for business or pleasure. In addition to these strategies, you should never forget to wash your hands often. Best to use soap and water and if not able to, then using hand sanitizers with some alcohol content like more than 60% alcohol. The following are few things you can do (if not already doing so) to help ramp up or maintain your immune system in check:

1-      Making lifestyle changes: getting regular exercise and physical activity can strengthen your immune system by encouraging good circulation and according to new research, promoting a healthy thymus. A study done my UK researchers, found that thymuses of older cyclists who exercised regularly throughout their lives developed as many immune cells as those of young people. Thus, their immunity was as strong as that of men and women half their age. (Aging Cell, March 8, 2018). Aim for 30-45 minutes of moderate intensity activity such as brisk walking, most days of the week. However, avoid strenuous exercise at the onset of illness, let your body recover and resume once you are feeling better.

2-      Make time to rest: Inadequate rest can have negative effects on your immune system as well as your energy levels and mental alertness. Make sure you’re getting between seven and nine hours of sleep a night and that you also carve out downtime during the day.

3-      Manage your stress: Increased levels of stress hormones such as cortisol can weaken the immune system and dampen the body’s ability to heal itself. Try writing out your thoughts in a journal and practicing relaxation techniques such as meditation and visualization or guided-imagery.

4-      Look on the bright side: Expressing positive emotions, such as optimism, is associated with lowered production of cortisol, better immune function and reduced risk of chronic disease. The simple act of laughing may also lower stress levels and boost immunity.

5-      Improving your eating habits: Enjoy plenty of fresh, organic fruits and vegetables and aiming for all the colors of the rainbow. Try to follow an anti-inflammatory diet and lifestyle. Regular consumption of inflammation-moderating foods and herbs can help support a healthy immune system. Add spices to your meals, like cayenne pepper and turmeric. The both have anti-inflammatory effects. Minimize the use of sugar and alcohol, since both can impair the function of white blood cells and can negatively impact the immune system.

6-      Increase your probiotics intake and fiber as well: There’s evidence that without robust and diverse beneficial gut flora, the immune system can’t work properly. You can encourage friendly bacteria by consuming probiotic-rich food such as yogurt with active cultures, kefir, natural pickles, sauerkraut, miso and kimchi. The recommendations for fiber, is 29-38 grams per day of dietary fiber. A major function of the gut microbiota is to metabolize carbohydrates, specifically a type called microbiota-accessible carbohydrates, or MACs, found in fruits, vegetables, whole grains, and legumes. When your microbiota consumes MACs, compounds are released into your gut that assist your body in regulating the immune system and keeping pathogenic bacteria at bay.

7-      Use of supplements: Certain adaptogenic herbs can help mitigate the harmful effects of stress on the immune system. One of them is rhodiola and eleuthero. Eleuthero appears to be particularly effective in combating the common cold when taken in combination with the herb Andrographis and within 72 hrs of the first development of symptoms. Echinacea is another one that has the reputation for helping stimulate immune activity and boosting resistance against bacteria and viruses. Although evidence is mixed, several studies have found that people who begin taking echinacea as soon as they start to feel cold symptoms experience fewer or milder symptoms and recuperate faster than those who don’t. In terms for using these, best to consult and follow with your doctor, perhaps if he or she is familiar with the use of this herbs since they cannot be taken for long periods of time and also for monitoring any potential side effects and/or interactions with other drugs you are taking.

 

*Hope you find these recommendations helpful and hope you stay safe and have a good immunity to help you through these challenging times, since we are facing this current pandemic, with COVID-19.

New Blog!

Please check out this article i had written for the Natural Awakenings Magazine, here in Austin, TX.

I explain what integrative Medicine is and the different therapies and modalities that it offers.

Integrative medicine is an approach to care that puts the patient at the center and addresses the full range of physical, emotional, mental, social, spiritual and environmental influences that affects a person’s health. The patient and the clinician are partners in the healing journey and process. Integrative doctors take the time to help each patient figure out what is preventing them from achieving their best possible health”.