Vitamin D and Cancer

In a previous post from January 27, 2016  (http://blog1.smopinions.com/2016/01/7-interesting-facts-about-vitamin-d.html), it was mentioned that there are associations between vitamin D deficiency and certain types of cancer. This post will explain a little bit more about them.

Regarding colorectal cancer, it was noticed about 2 decades ago, that there is more mortality from colorectal cancer in the northern and northeastern parts of the United States, the ones which receive less sunlight. This in itself is not enough to establish a meaningful association, however, it gave a starting point for research. Then, 2 studies showed that having levels above 30 ng/dL in the blood may reduce the incidence of colorectal cancer by half^1,2.

With respect to breast cancer, a recent study found that postmenopausal women may get a benefit from having adequate vitamin D levels in the blood. The risk of developing breast cancer in this particular group of women was lower than in the same group of women with lower vitamin D in their blood³.

Finally, in regards to prostate cancer, it has been found that this cancer is also more common in regions with less sun exposure. In addition, lower vitamin D levels in the blood are related to more aggressive forms of prostate cancer. Last but not least, adequate levels of vitamin D may aid in the slowing of the progression of this type of cancer⁴.

More research is needed in order to confirm and strengthen these associations. In the mean time, it does not hurt to have adequate levels of vitamin D in the blood, particularly for people living north of the 30th parallel.

References

1. Serum 25-hydroxyvitamin D and colon cancer: eight-year prospective study. Garland CF, Comstock GW, Garland FC, Helsing KJ, Shaw EK, Gorham ED. Lancet. 1989;2(8673):1176-8.

2. Meta-analysis: longitudinal studies of serum vitamin D and colorectal cancer risk. Yin L, Grandi N, Raum E, Haug U, Arndt V, Brenner H. Alim Pharm Therap. 2009 30(2):113-25

3. Plasma vitamin D levels, menopause, and risk of breast cancer: dose-response meta-analysis of prospective studies. Bauer SR, Hankinson SE, Bertone-Johnson ER, Ding EL. Medicine (Baltimore). 2013;92(3):123-31

4. Association between serum 25(OH)D and death from prostate cancer. Tretli S, Hernes E, Berg JP, Hestvik UE, Robsahm TE. Br. J. Cancer 2009;100(3):450-4.

Marco A. Ramos MD

Documenting Malnutrition. Part 1

There are several types of malnutrition. There is protein malnutrition (kwashiorkor), calorie malnutrition (marasmus) and the combined protein calorie malnutrition. In our society, the most common form of malnutrition is the latter and it will be the one most used in the medical records. There are also several degrees of malnutrition, mild, moderate and severe) and they can be associated to an acute or a chronic process. The American Society for Parenteral and Enteral Nutrition (ASPEN) guidelines recommends that the diagnosis of malnutrition in the adult patient be supported by the presence of two or more of the following: insufficient energy intake, weight loss, loss of muscle mass, loss of subcutaneous fat, localized or generalized edema, and decreased handgrip strength¹. The degrees of malnutrition can be seen in tables, available online² 

Properly documenting malnutrition requires to have the discipline of always including in the history of present illness (HPI) and review of systems (ROS) a nutritional history. A significant percentage of the disease processes that lead to an admission of a patient to the hospital include a problem with food intake or weight loss. In addition to this, the physical exam can enable us to describe the loss of muscle mass, the loss of subcutaneous fat, the presence of edema and the decreased handgrip strength. The assessment and plan (A/P) should include a nutritional diagnosis (if pertinent) and its chronicity, degree of severity and type.

Lastly, once the diagnosis is established, a plan to deal with it has to be formulated. This plan could be a dietitian consult, a gastroenterology consult for a feeding tube, an interventional radiology consult for TPN vascular access, to cite some examples.

References

1. White JV, Guenter P, Jensen G, et al. Consensus statement of the Academy of Nutrition and Dietetics/American Society for Parenteral and Enteral Nutrition: characteristics recommended for the identification and documentation of adult malnutrition (undernutrition). J Acad Nutr Diet. 2012;112(5):730-738.

2. http://www.baxternutritionacademy.com/ie/disease_related/identifying_malnutrition.html Retrieved December 13, 2016

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation Improvement

Altitude Sickness. How to Avoid it.

Some of the most beautiful places in the world are situated in mountainous regions of the world. Many of these places are very popular places for tourism. The majority of travelers are not used to high altitudes. The atmospheric pressure at 10000 feet above sea level (3050 meters above sea level) is two thirds that of the one at sea level. This means that when traveling to such altitudes it is like one third of the atmosphere (and oxygen) has been removed.

Altitude sickness is characterized by headache, nausea, shortness of breath on exertion, tachycardia and fatigue. In very rare circumstances, it can cause pulmonary edema or cerebral edema. 

In order to avoid or minimize the symptoms of altitude sickness, the traveler from sea level has to take it easy. Upon arrival to the high altitude location, rest, walk slowly, and take deep breaths. The tourist must eat lightly and allow one or two days for proper acclimatization (getting used to the new environment). True acclimatization does not complete until 2 or 3 weeks, however, there is never so much time during vacation. A strategy that some travelers employ is to travel to the desired destination in a stepwise fashion, stopping in intermediate altitude towns prior to the arrival to the high altitude place.

Finally, there are medications that physicians are familiar with and that may help. Travelers should contact their respective doctor for this purpose.

Marco A. Ramos MD

Documenting Obesity

Obesity is defined by having a body mass index (BMI) of 30 or more. For clinical purposes, the BMI is a screening tool, however, for the purposes of documenting in a patient’s chart it is very important  to make the difference between people who have obesity and people who do not. Continuing with definitions, morbid obesity is when someone has a BMI of 40 or more. 

Obesity is very common in our society. For this reason, it tends to be overlooked and not included in the patient’s chart when documenting. In addition, many physicians feel uncomfortable including  diagnosis that may make the patient not feel good about him or herself. Obesity and specially morbid obesity, are associated with increased morbidity and mortality by worsened outcomes and delayed recovery times. Hospitals use more resources when treating patients who are obese or morbidly obese.

In order to make sure obesity and morbid obesity are properly documented, providers have to develop the habit of including a BMI, close to the patient’s vitals. Moreover, providers should always allow in their templates a space for a nutritional diagnosis.

Finally, its is extremely important to include the diagnosis of obesity hypoventilation syndrome if the patient has a BMI greater than 30 and also has a diagnosis of obstructive sleep apnea (OSA) or a documented wake up arterial partial pressure of carbon dioxide greater than 45 mmHg with no other cause such as chronic obstructive pulmonary disease  (COPD), asthma, or hypoventilation from other causes.

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation Improvement

What is Obstructive Sleep Apnea? Who is at Risk?

Obstructive Sleep Apnea (OSA) is a very common condition in which the upper airway gets obstructed by relaxed soft structures during sleep. This obstruction leads to inadequate air exchange in the lungs, increased diaphragm and chest wall muscle contractions as efforts to relieve the obstruction occur. In addition, OSA is characterized by poor sleep quality due to multiple brief periods of waking up during the night as the body moves and loud gasps happen. Finally, due the the poor sleep quality, daytime sleepiness is a feature of this condition, with all the problems this entrails.

There are certain groups of people who are at risk of having OSA. Obese or overweight individuals, patients with enlarged tonsils or large tongues, people with a thick or large neck or individuals who have upper airways with small diameters. The formal diagnosis of OSA is made with an overnight sleep study, however it can be strongly suspected if a person has daytime sleepiness, snores loudly and if there are visible episodes of “not breathing” (apnea) during sleep.

OSA can lead to elevated blood pressure, problems with attention and concentration, daytime sleepiness, irritability, and headaches. Treatment includes the avoidance of alcohol, sleeping on a side, use of a continuous positive air pressure (CPAP) device, surgery to remove extra tissue, and the use of an implantable upper airway stimulator. A primary physician will be able to refer someone who may have this condition to a local sleep specialist.

Marco A. Ramos MD

Tips For Great Clinical Documentation Part 4

In the previous post of the series, I highlighted the importance of being consistent when documenting, as the days pass and as the patient’s situation changes. In this post, I am going to mention how creating templates can help and how and why to avoid medical record cloning

Create templates, but avoid medical record cloning.

When providers see patients and document, a sequence of actions occurs that does not vary patient to patient. First the provider sees the record, the new laboratory workup, the past history, then, he or she sees the patient and finally the creation of a new note takes place. This last step also has its own sequence because all different types of notes have defined sections that have to be present for all cases. Creating templates for documentation helps with not forgetting to include the necessary elements of the history and physical, progress note, consultation, discharge summary, postoperative note, etc. In addition to that, a template can make the provider remember to include always certain aspects that may be missed, like a nutritional assessment, for example.

One of the abilities of  electronic health record systems is the ability of being able to import parts of a previous record into a new note. Some information may change little on a day to day basis. The ability of “cut and paste” can lead to medical record cloning if appropriate measures are not taken. Medical record cloning can lead to fraud, in the sense that a chart may contain information that may not represent exactly what happens to the patient in a particular day and and the same time lead to inaccurate billing. In order to avoid medical record cloning physicians using the “cut and paste” technique must make sure that the note is unique for the day, that it reflects what happened in that particular day and that billing is consistent with the content of the note.

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation Improvement

Who is Obese? 5 Dangers of Obesity

The healthcare community has defined obesity as a body mass index (BMI) of 30 or more. The BMI is the ratio between the weight of a person (in kilograms) and the square of the height (in meters). There are many calculators online that can calculate the BMI using pounds and feet/inches. This is a very inexact way of classifying overweight people because there could be very muscular people that could be obese according to this definition. In addition, it may cause shorter people to be overrepresented in the obese population.  In spite of this, the BMI provides an easy way of classifying people according to weight that can lead to meaningful research and can serve as an effective screening tool.

There are many dangers that originate from being obese. I will list here the five most relevant ones

1. Diabetes mellitus. Having excessive adipose tissue causes insulin resistance and some obese people may become diabetic because of this.

2. Hypertension. Obesity is associated with hormonal variations that may lead to salt and water retention and constriction of small arteries. These changes can elevate the blood pressure.

3. Sleep apnea.  This condition is related to obesity. It causes the breathing to stop many times during the night causing problems with oxygenation and getting rid of carbon dioxide.

4. Osteoarthrosis. The extra weight that the obese person has to carry has an impact on the hip and knee joints. This may lead to incapacitating pain and joint replacement surgeries.

5. Cancer. Breast, colon, gallbladder and endometrial malignancies are more common in overweight individuals than in people with normal weight

Diabetes and hypertension are  significant risk factors for coronary artery disease and stroke. Sleep apnea is directly related to hypertension. This means that obesity may impair a person’s health in multiple ways.

Marco A. Ramos MD

Tips for Great Clinical Documentation Part 3

In the previous post of the series, I outlined the importance of using the terms “probable”, “possible”, “likely” and “not ruled out” when documenting in a medical chart. In this post I am going to highlight the importance of being consistent with the diagnoses throughout the duration of the record.

Be consistent with diagnoses throughout the record.

In clinical practice, a provider, as seen in the previous post, can make decisions and place orders based on a probable diagnosis. As the days pass and more clinical data is available, most of those diagnoses will be clarified and the decision-making might change or remain the same. For this reason, it is important to document what happened with the initial “probable” diagnosis. The use of the term “ruled out” is very useful because it tells the coder that what we initially thought was probable, it is not a possibility anymore. In a case of “probable pneumonia” in the first day, the record may read on the second day: “Pneumonia was ruled out”. This implies that antibiotics are not being used anymore, so the chart would reflect proper allocation of resources.

The other situation that needs to be taken into account is the one that results from the resolution of a problem. This is particularly important in prolonged hospitalizations, when problems that were there originally, end up being resolved. It is good practice to carry the diagnosis in the assessment section and document “resolved”. This has the added benefit of letting providers that  arrive later in the picture, that a patient had a problem and it is not present anymore. With respect to the allocation of resources, it is different to document “resolved” that to document “ruled out”. “Resolved” means that the problem was there and was corrected using the treatments ordered by the provided. “Ruled out” means that the problem was never there and any continued use of resources is not justified. A document may read like this: “Hyponatremia. Present on admission, resolved.”

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation

5 Facts Everyone Needs to Know About Factor V Leiden

Here are 5 facts that everyone needs to know regarding a common condition that predisposes to potentially deadly clot formation, either deep vein thrombosis (leg clots) or pulmonary embolism (lung clots).

1. Factor V Leiden (FVL) is a mutated Factor V, one of the factors essential to form a clot. The mutated factor, once activated, is more difficult to clear by the body, being this the reason why people with this mutation may form clots easier than people who do not have it.

2. About 5% of Caucasians have at least one copy of FVL (of 2 possible from mother and father). It is rare in other ethnicities. 0.02% of Caucasians have the two mutated copies.

3. A person with one copy of FVL has a 4 to 8 times increased chanced of developing a clot. A person with 2 copies has up to 80 times increased risk of developing a clot. Someone with a normal Factor V has a chance of developing a clot of 1 in 1000 in 1 year. This means that an individual with one copy of FVL can have a 4-8 in 1000 (0.4-0.8%) chances to develop a clot in a year and an individual with the 2 copies can have a risk of 8% per year to develop a clot.

4. Smoking, estrogen therapy, pregnancy and recent surgery are situations known to increase the chance of blood clots in any person, however the effects can be more pronounced in people with FVL

5. If a person with FVL develops a second clot, he or she is a candidate for lifelong anticoagulation (blood thinning) therapy.

References

1. Learning About Factor V Leiden Thrombophilia. Retrieved on August 28, 2016 from https://www.genome.gov/15015167/

Marco A. Ramos MD

Tips for Great Clinical Documentation Part 2.

In the previous post of the series, I outlined the importance of being specific when documenting in a medical chart. In this post I am going to stress the importance of documenting uncertainty and how to use it to reflect decision making by a physician or advanced practice provider.

Terms like probable, possible, likely or “not ruled out” are acceptable

Many decisions that providers make when practicing medicine are not the direct result of knowing a diagnosis, but a logical decision based on a probability. A typical example of this is the treatment for “healthcare associated pneumonia” (HAP). First of all, just documenting HAP is not  enough for a coder. Here, the provider has to be specific, stating what is he or she treating. The problem arises when the specific bacteria that is causing the HAP is not known. A way to deal with this is to use the following rationale: It is known that is is highly likely that HAP could be caused by pseudomonas because of the exposures these kind of patients have had. For this reason, the provider can cover for that pathogen based on a high probability, not on a certainty.

The documentation may read as follows: “Healthcare Associated Pneumonia. Probable Pseudomonas. Covered with cefepime.” By documenting like this, the provider was specific, showed the seriousness of the condition and justified a use of resource based on a probability.

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation

3 Macrovascular Risks of Uncontrolled Diabetes Mellitus

Uncontrolled diabetes mellitus (either type 1 or type 2) is associated with several complications caused by the chronic damage that excess glucose causes to the tissues of the body. The vascular tissue, is particularly sensitive and leads to the damage of organs as we are going to see.

Coronary Artery Disease (CAD). Diabetics have a higher rate of heart attacks than the general population. Excess glucose over many years contribute to the generation of atherosclerosis and the formation of plaques in the coronary arteries that will eventually be the cause of the heart attacks. Heart attacks, are also the main cause for heart failure and sudden death.

Cerebrovascular Disease (CVD). A similar problem in the vascular system of the brain is responsible for the appearance of more strokes in diabetics than in the general public. In this case, the atherosclerosis and the plaques are formed in the carotid arteries and the arteries of the brain. Debilitating strokes, and dementia are the main consequences.

Peripheral Artery Disease (PAD). If the atherosclerosis and plaque formation happens in the arteries of the lower extremities, the consequence may be the amputation of different parts of the leg. These can range from losing toes to the loss of an entire limb. It is well known that diabetics have a higher incidence of amputations than non-diabetics

Strict control of the blood sugar is the mainstay of the prevention of these complications. To get to the point of a heart attack, a stroke or an amputation, decades of elevated blood sugar have to be present. In addition, other factors such as smoking, high blood pressure, or genetic predisposition can speed up the process of atherosclerosis. There are many options to control the blood sugar, including many pharmacologic measures such as oral medications and injectables such as insulin and non-pharmacological measures such as diet and exercise.

Marco A. Ramos MD

Tips for Great Clinical Documentation Part 1.

As I explained in the previous post of the series, Clinical Documentation Improvement (CDI) is a recognized process of improving records to ensure improved patient outcomes, data quality and accurate reimbursement¹. In order to achieve great documentation before the need for a Clinical Documentation Specialist (CDS) queries a medical provider, there are some tips that are usually useful. In this post I will present a few of these, with more tips coming in the next post.

Be Specific

By being specific I mean, to describe the condition as much as you can un terms that are accepted by all practitioners and coding specialists. For example, you should always indicate the stage of a condition, e.g, it is not enough to document chronic kidney disease (CKD) alone. It is important to say if this is a stage III, or a stage IV CKD. Treating a more severe condition, represents that more resources are being used because the patient is sicker. Also, the type of condition that the provider is dealing with is necessary to be known, for example, if the chronic heart failure is of a systolic type or a diastolic type. Treatment, may be different between those conditions and establishing the difference might have an impact in retrospective research. Finally, specifying the chronicity of an illness (acute or chronic) is important. An example of this is anemia. Having a hemoglobin concentration of 7.0 g/dL is different if this is a consequence of a gastrointestinal hemorrhage or if this is a level that has been maintained for years, like in patients with sickle cell anemia. The first patient will need a gastroenterology consultation with a possible endoscopic procedure, the second patient will need careful monitoring and possible advise from a hematologist.

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation

References

1. https://en.wikipedia.org/wiki/Clinical_documentation_improvement. Retrieved June 2, 2016

Atrial Fibrillation. Will you Ever Have it?

Atrial Fibrillation is one of the most common arrhythmias of the heart. It is often referred as “irregular heart beat” or “quivering of the heart”¹. It is important because it is related to strokes, heart failure and cognitive decline. Its treatment, in addition to trying to control the arrhythmia, usually involves anticoagulation in order to decrease the risk of stroke.

Even if people are healthy and have few or no cardiovascular risk factors, there is a age-related risk of developing atrial fibrillation. This risk has been measured and it increases progressively with age. In one study, people between 55-59 years old have a 0.7% risk, 60-64 years old 1.7%, 65-69 years old 4.0%, 70-74 years old 6.0%, 75-79 years old, 9.0%, 80-84 years old 13.5% and older than 85 years old 17.8%². The risk seems to be slightly higher in men than in women.

The risk of developing atrial fibrillation increases with the presence of conditions such as hypertension, diabetes mellitus, hyperthyroidism, heart failure, obesity, obstructive sleep apnea, excessive sports practice, chronic inflammatory states, and alcohol abuse³. In addition there are genetic markers that might explain why certain people develop atrial fibrillation at a younger age and why white people are more affected than people from African of Hispanic descent. There are mutations in certain genes that increase the risk and there are genetic variants called single nucleotide polymorphisms (SNP) that are associated with early onset atrial fibrillation.

Like with every condition, there are modifiable risk factors and non-modifiable risk factors (like the genetic ones). If anyone has any of the non-modifiable risk factors, it is better to be on the safer side and make sure that more risk is not added to the already present ones. Also, be in close communication with your personal physician for proper prevention and treatment if needed.

References

1. http://www.heart.org/HEARTORG/Conditions/Arrhythmia/AboutArrhythmia/What-is-Atrial-Fibrillation-AFib-or-AF_UCM_423748_Article.jsp#.V3RKAFeL1M8. Obtained June 20, 2016

2. Jan Heeringa, Deirdre A.M. van der Kuip, Albert Hofman, Jan A. Kors, Gerard van Herpen, Bruno H.Ch. Stricker, Theo Stijnen, Gregory Y.H. Lip3, and Jacqueline C.M. Witteman. European Heart Journal. 2006;27: 949-953

Marco A. Ramos MD

The Importance of Clinical Documentation Improvement

Clinical Documentation Improvement (CDI) is the recognized process of improving healthcare records to ensure improved patient outcomes, data quality and accurate reimbursement¹. The effects of having a good CDI program are multiple and they include excellent record keeping for future chart review, (especially beneficial in medical research and legal discovery processes), great communication amongst healthcare providers and better resource consumption and length of stay.

An essential part of the CDI process is the role of the Clinical Documentation Specialist (CDS). The CDS is usually a registered nurse (RN) who has specialized in documentation compliance and integrity. The CDS is trained to identify records that may be lacking the specific language needed to support the documentation standards as defined by insurance companies, research protocols and the legal system. The CDS will query the healthcare providers associated to the chart to look for clarification, avoiding at all times leading the healthcare provider towards a specific diagnosis.

The query is the way the CDS communicates with the healthcare provider. It is framed as a question with background information and a request for an action which is usually an agreement or a disagreement with the question. Queries are important because the help clarify terminology so that the medical record accurately reflects reality. The timeliness of a response to a query is very importance because the closer the gap in time between the generation of the query and the response, the more better the response will reflect reality.

The CDI program is usually enhanced by a physician advisor or medical director, who is in charge of advising the CDS, generating education processes and increasing compliance with the query answering process.

Marco A. Ramos MD

Second Medical Opinions PLC

Physician Advisor in Clinical Documentation

References

1. https://en.wikipedia.org/wiki/Clinical_documentation_improvement. Retrieved June 2, 2016

5 Possible Consequences of Uncontrolled High Blood Pressure

Uncontrolled high blood pressure (hypertension) is associated with several health conditions. Hypertension is treatable, so this means that the following diseases can be prevented or delayed. 

1. Heart attacks. Elevated blood pressure is related to atherosclerosis, which, by narrowing the coronary arteries, can lead to heart attacks. Heart attacks can cause congestive heart failure and sudden death. 

2. Impaired vision. Hypertension can cause something called hypertensive retinopathy. This means that the retina (where the images are formed in the eye) can get damaged by chronic high blood pressure and can lead to impaired vision and blindness.

3. Amputation of limbs. High blood pressure can lead to the amputations of limbs, specially feet and legs. The problem starts with the atherosclerosis in the arteries of the limbs which eventually leads to obstruction and lack of blood supply to the feet and legs, especially. Hypertension is related to the atherosclerosis of the limb arteries, just as with the heart.

4. Stroke. The brain can also be the victim of atherosclerosis, which is related with hypertension (as we have just seen). In addition to this, if the blood pressure becomes too high, it can lead to bleeding inside the brain, by rupture of the arteries.

5. Kidney disease. The kidneys are very sensitive. Elevated blood pressure for a long time can cause scarring of the kidney tissue to the point that it cannot perform its functions anymore. The kidneys are important for sodium and potassium control, blood pressure control, generation of red blood cells, vitamin D and calcium metabolism and acid-base balance.

Marco A. Ramos MD

Alzheimer's Disease Genetics Explained

Alzheimer’s Disease (AD) is a chronic degenerative disease of the brain which leads to progressive dementia, which is the loss of the mental faculties of a person. Memory, personality, judgement and reasoning can get severely impaired. The development of AD has a strong genetic component, which may be complicated to understand, but I will try to simplify it here.

There is a gene called APOE. This gene encodes a protein called apolipoprotein E. There are 3 variants of the APOE gene (ε2, ε3, ε4). Each of us inherits 2 variants of the gene, so we all are either ε2/ε2, or ε2/ε3, or ε3/ε3, or ε3/ε4 or ε4/ε4 or ε2/ε4. 

The combination ε4/ε4 has the highest possibility of AD. According to one study, at 85 years of age, people with this combination would have a possibility of 51-52% of developing the disease if male, and 60-68% if female. The combination with the lowest possibility is ε2/ε2, it has a 4-5% possibility of AD if male and 6-8% if female. All the other combinations are in between.

It is important to note that this gene is not the only one associated with AD. If you know your particular combination, it is best to consult a healthcare provider for proper advice.

Marco A. Ramos MD

Further reading here:: http://www.ncbi.nlm.nih.gov/pubmed?cmd=Search&term=9343467

3 Important Things Patients Need to Know About Telemedicine

Technology is improving and advancing fast. What was impossible just a few years ago, is becoming possible now. Nowadays, a physician can see a patient, interview him or her, auscultate, examine the skin, prescribe medications and document in an electronic medical record, without being physically by the patient’s side. 

The first issue that needs to be brought up is the location of the medical act. It has been defined that the medical act occurs where the patient is located. This has consequences regarding licensing and regulations. As it is well known, in the United States, licensing goes state by state, so the physician has to be licensed in the state where the patient is located. This means that, so as the doctor is licensed in the state where the patient is located (and the state medical board is OK with it) the physician can be located anywhere in the world and see, listen and treat a patient.

A second issue is the question of insurance reimbursement. As of today, not all insurance plans reimburse for telemedicine services, although this is increasing by the day. The patients have to be aware if a service rendered by telemedicine will be reimbursed by a particular insurance plan if not paying out of pocket.

The third issue is that there are some specialties that are more ready for telemedicine, than others. For example, Neurology and Psychiatry have been using this services for some years. The surgical specialties (due to the nature of their service) have not quite embraced it yet. It is not impossible to think that in the future, a surgeon might operate remotely, using devices similar to joysticks.

Marco A. Ramos MD

MTHFR mutation. One in 6 people have it. What to do if you have it?

MTHFR mutations are one of the commonly found mutations in genetic testing. If someone is homozygous (carrying one mutation from your father and one from your mother) for the C677T mutation, it may be associated with increased cardiovascular events (heart attacks, strokes), malignancies and birth defects (spina bifida). This does not mean that if someone has the homozygous mutation that person will have a problem. It means that there may be an increased risk.

MTHFR stands for methylenetetrahydrofolate reductase, an enzyme in the metabolic of folic acid. It is also the name of the gene that codes for that enzyme. People with the homozygous mutation have a defective enzyme and  may have some difficulty with the metabolism of folic acid. At the same time, there may be increased levels of homocysteine in the blood, an amino acid associated with thrombotic problems. 

What to do if someone is homozygous for the C677T mutation? Many people find this after testing in commercially available genetic testing. If this mutation is found, a physician or genetic counselor should be contacted. The most likely next step would be an evaluation of homocysteine levels in blood. If normal, the person should be reassured that its risk for cardiovascular events and other problems is probably similar as the rest of the population. If the levels of homocysteine are high, it does not hurt to try to reduce it by having folate supplements and increased vegetables with the diet.

Marco A. Ramos MD

7 Interesting Facts About Vitamin D That You Were Probably Not Aware Of

1. Vitamin D is not a vitamin. It is a hormone. it is structurally related to steroids and has intracellular receptors. It does not function as a cofactor in biochemical reactions like vitamins¹.

2. There is a link between vitamin D deficiency and seasonal affective disorder (SAD), a form of depression which happens more often in winter months². 

3. Vitamin D is produced in the the skin (from the interaction with sunlight) and undergoes 2 modifications, one in the liver and another one in the kidney in order to achieve its full effects.

4. There are receptors for vitamin D, almost in every cellular type of the body. Intestines, bones, brain, kidneys are just examples of organs where vitamin D has an effect.

5. Darker skinned people are more vitamin D deficient than lighter skin people. Also, people living north (or south) of the 30th parallel are more deficient than those who do not.

6. There are significant associations between vitamin D deficiency and cancer, specially colorectal, breast and prostate cancers^3,4,5.

7. There is an association between all-cause mortality and low levels of vitamin D⁶.

References

1. Vitamin D: A Hormone for All Seasons - How much is enough? Understanding the New Pressures. Morris H. The Clinical Biochemist Review. 2005; 26(1): 21–32.

2. Association Between Low Serum 25-Hydroxyvitamin D and Depression in a Large Sample of Healthy Adults: The Cooper Center Longitudinal Study. Hoang, MinhTu T. et al. Mayo Clinic Proceedings. 2011;86(11): 1050-1055

3. Association between vitamin D and risk of colorectal cancer: a systematic review of prospective studies. Ma Y, Zhang P, Wang F, et al. Journal of Clinical Oncology. 2011;29(28): 3775-3782.

4. Vitamin D Deficiency Predicts Prostate Biopsy Outcomes. Murphy AB. Clinical Cancer Research. 2014;20(9): 2289–2299.

5. Vitamin D and Reduced Risk of Breast Cancer: A Population-Based Case-Control Study. Knight JA et al. Cancer Epidemiology Biomarkers Prevention. 2007;16(3):422–429

6. Meta-analysis of All-Cause Mortality According to Serum 25-Hydroxyvitamin D. Garland CF et al. American Journal of Public Health. 2014;104(8): e43-e50.

Marco A. Ramos MD