doctorguest

In all likelihood, medication sensitivities and tolerance are the result of a specific genotype. Pharmacogenetics is the field that is currently exploring the relationship between medication sensitivity and response and an individual's genetic makeup. I was told by the colleagues in the field that in the future we may see specific drugs and doses tailored for the specific groups of people. This would be a remarkable advancement in medicine because medications will be individualized according to the patient's genotype rather than "one drug fits all" model that is in place currently and is obviously not working.

Diagnosis of multiple sclerosis is made based on clinical, MRI and other test (LP, for example) findings, and in some cases, MS can be difficult to diagnose. There are distinct characteristics of lesions on MRI that suggest MS diagnosis as opposed to many other diagnoses, including "non-specific". Some healthy people have MR hyperintensities for an unknown reason, and in those cases, these are called "unidentified bright objects" or UBOs (kind of like UFOs). By itself, these hyperintensities do not constitute a diagnosis of MS, which requires having attacks of neurologic deficits that can be assessed objectively by a neurologist. Many times general radiologists interpret MRI of the brain as "possible demyelinating disease" when they see several nonspecific lesions. This interpretation by no means qualifies for a diagnosis of MS. A neuro-radiologist should be better able to look at these lesions and determine whether they are suggestive of MS lesions. I have seen many women overidiagnosed with MS based on the incorrect reading of their MRs by the general radiologists. If you live in the area where there is a neurologist specializing in MS, you may get a definitive answer from them. You can obtain the list of MS physicians through the MS Society. Regarding the need for LP, the decision is between you and your neurologist, but I would not hesitate to seek a second opinion from a neurologist specializing in MS before proceeding with LP.

What you need is a thorough urologic evaluation, including the urodynamic study. Medications, including those that have anticholinergic properties, can cause urinary retention, but overall, a qualified urologist needs to evaluate your case in order to properly diagnose and treat, if necessary. Often, urologists are used to deal with male urologic problems, and thus, some unfortunately can either be dismissive or ignorant about women's issues. Specialists, such as urogynecologists, are trained specifically to deal with women's urologic problems, so they would be able to help you more than a urologist.

Balance problems may be caused by numerous disorders, including those of the middle ear. It is very important to decipher whether your daughter's problems are due to vertigo, lightheadedness, sensory disturbance, or loss of postural reflexes. Only doctors specializing in balance disorders would be able to differentiate among the many causes of her gait problem, and I think that pediatric neurologists and ENT physicians would be the specialists most helpful for this. Good luck!

If you have seen a urologist, he/she would have done a bladder ultrasound. Do you have enough urine in the bladder and just not feeling the need to go? Or do you actually produce little urine to begin with? If you don't produce urine after drinking about 2 L per day, it would be a completely different problem, not involving the bladder. Keeping a journal of your fluid intake and urine output is a very good idea and would be very helpful to a doctor. Every time you urinate, you should measure how much and write it down. You should then calculate how much fluid you took compared to how much volume you have urinated per 24 hrs. This should give you an idea about your body's fluid balance.

Chrissy, As others have said, POTS can probably cause problems with attention and concentration, rather than the actual IQ decline, during a bad flare-up. However, a brain is like a muscle - it has to be exercised on a regular basis or else, your cognitive abilities and skills will decline. If you haven't completed high school education, I urge you to enroll in an on-line program to do so. You absolutely need to read, study and take tests to challenge yourself cognitively. It may be very difficult at first, but you need to struggle through it to build a higher level of cognitive function. You are still very young, and your brain is capable of things that an older brain is not. Set goals for yourself, challenge yourself, and it would be extremely beneficial not only for your cognitive abilities, but for your overall mental health. Good luck!

Have you eaten chocolate within the past few days? Did you have an allergic response then? I doubt that developing a reaction to hot chocolate would translate into allergy to all chocolate-containing products. This would be a disaster, you right . Cocoa powder may contain preservatives or other additives that you may have been allergic to. Finally, drinking hot liquids can cause vasomotor reaction - i.e. vasodilation from heat activates mast cells and can cause allergic-like reaction with itching, redness, etc. Hope you can still enjoy chocolate!

Definitely, Paxil can cause weight gain, but so can Florinef.

As others have said, high vitamin B12 level is not generally thought of as particularly concerning, although I've always wondered about the cause when I saw these elevated levels in my patients. One way to explore this further would be to order a vitamin B12 cascade, which includes methymalonic acid and homocysteine. Another, more in-depth way, is to analyze B12 level in the red blood cells directly. Do you have any other abnormalities in your blood work, like anemia for example? Do you take a multivitamin? Do you supplement your diet with any nutritional drinks/shakes/bars that may be high in B12? Have you been treated with erythropoietin?

Mestinon can absolutely cause bradycardia. This med may not be appropriate for your mom. As to what else is available depends on what type of symptoms the doctors are trying to address. If it's neuropathic pain, there is one path. If it's fainting and orthostatic hypotension, there is another. I am glad that the pacemaker was avoided - it would have been a shame to have a pacemaker for bradycardia induced by Mestinon.

Hi Michelle, Sorry you're dealing with yet another migraine. These can be scary especially when accompanied by other neuro symptoms. Do you actually have weakness on the right side? True hemiplegic migraine involves weakness on one side that can be objectively noted by an examiner. If it's not hemiplegic, then the neuro symptoms are likely due to migraine without aura - that is if you didn't have these symptoms preceding the headache because if you did, it would actually constitute migraine with aura. Anyway, if you're getting even more confused by this, don't feel bad - the migraine classification system is not simple. In terms of what to do, one option is to call your PCP. Some outpatient offices are equipped to administer IV meds in office so that you could avoid ER. There is also an option of an urgent care where you get IV meds. From what I recall, you have multiple allergies to medications, so perhaps experimenting with new medications at home at the time of an acute headache may not be the best option. How many hours has it been with this headache? If it's migraine without aura, it's unlikely to cause any harm to you if left untreated, other than the discomfort of pain and suffering of course. If it's migraine with aura, and the aura itself is lasting more than 24 hours, then it's treated a little more aggressively than migraine without aura. It's reassuring that this type of headache is similar to what you've experienced before. Anyway, this became longer than I intended, but I'd recommend if by tomorrow the headache is not gone, definitely call your PCP, just to be on the safe side. If the pain gets worse overnight, ER may be in order. Hope you feel better!

There are good medications that can help, and the dose of these will probably be very low. Dry eyes is not a reason not to try these. As a pre-teen, he is probably very self-conscious about the problem, so I would encourage you to try the medications. These may include antihistamines, like benadryl, anticholinergics, like nortryptiline or any other that your pediatrician thinks is appropriate for your son. I am sure the medication will make a great difference. Good luck!

Estimated GFRs are not all that accurate. If your BUN and creatinine are normal, I wouldn't worry about the "estimated" GFR because it is not your true GFR, but an approximation based on a formula. I am sure your doctor will reassure your further when you see him.

I am certified in performing lumbar puncture and have done a number of them, both in an inpatient and outpatient settings. There is really no true correlation between laying flat after the procedure and getting the spinal headache. When performed in a doctor's office, the patient can get up, get dressed and leave shortly after the procedure is completed. We do instruct patients to "take it easy, not to do any heavy lifting and not to shower on that day." The facts are that the size and type of needle used can affect the risk of spinal headache, but some people will get it anyway, regardless of what needle is used, whether you lay flat afterward, etc. In my personal experience, young women who have headaches seem to get the spinal headache more often, but that's just my unofficial observation . Staying hydrated before and after LP is very important. Good luck with the procedure!

Hope you're doing better, Nina. One other thought is that often people who have mild trauma, especially to the dominant hand, may not remember having it. Traumatic arthritis/synovitis can be a possibility if you, for example, twisted or stretched your fingers as in opening a can or a bottle.

Hi Adria, Easy bruising has many causes, including a clotting disorder, low platelet count (thrombocytopenia), other blood disorders, connective tissue and autoimmune syndromes, vasculitis, and medication side effects. Also, people with liver dysfunction may have abnormalities in clotting factors, which can cause easy bruising. You mentioned that your liver enzymes have been elevated. Have you had a recent complete blood count done? If your routine blood counts are normal, there are other blood tests that a doctor can do to further investigate the cause. Finally, herbal supplements and some vitamins can have a blood thinning effect. Besides your doctor, you may want to discuss whether you are taking anything that may be the culprit with a PharmD. Good luck!

I have read this physician's proposal regarding fibromyalgia and ANS, and I agree with almost all of his statements. His weakest point was in the treatment section mentioning holistic approach, but not providing any details/explanation. Thanks for posting the link.

I hope the results are not used to withhold opiates from patients. I also take these studies with a grain of salt - yes, 'possibly' the opiates may not be effective in some patients with fibromyalgia - they did study only 17 patients! But this is not a reason not to prescribe it, in my opinion; it may actually help, and if used appropriately, would not be addictive. Lately, I've been seeing more and more studies being published on fibromyalgia, a disorder which is probably rooted in the autonomic dysfunction as well - though we don't have the actual proof of this yet. Some of their findings may also apply to POTS patients although one needs to be careful not to overinterpret these (note to self .

I haven't heard IVF being done under general anesthesia. Are you going in for implantation of the embryos on Tuesday? If so, then I am assuming you have tolerated the many drugs used before the actual IVF well. With POTS, tolerating all these drugs would be of primary concern. My friend could not tolerate the injections, and she is healthy! Good luck, and please, keep us posted on your progress - this is "an uncharted territory" for POTS patients as there is absolutely no literature on the topic that one can refer to.

Mary, You should push the button when you're having symptoms - not when you reach a certain heart rate. Your cardiologists are probably looking to correlate your symptoms with a possible abnormality in heart rhythm, rate or both. You can have a heart rate of 60 and a cardiac arrhythmia, so it's necessary to record when you're having shortness of breath. By definition, normal heart rate is between 60-100 bpm, so anything above that 'may' constitute tachycardia. Most cardiologists agree that a rate of >120 bpm is tachycardia. Keep in mind that these parameters are arbitrary; blood pressure, pulse pressure and symptoms are all important factors when considering if a heart rate is worrisome. Take care, drg

Fibromyalgia Study Provides Possible Explanation for Reduced Efficacy of Opioid Therapy Caroline Cassels Medscape Medical News 2007. ? 2007 Medscape October 3, 2007 ? A new study indicates individuals with fibromyalgia (FM) have decreased opioid-receptor?binding ability, a finding that may explain a long-held anecdotal observation that treatment with opiates has reduced efficacy in this patient population. Using positron emission tomography (PET), investigators at the University of Michigan Health System found that compared with healthy, matched controls, FM patients had reduced μ-opioid-receptor (MOR)?binding potential (BP) in the nucleus accumbens, the anterior cingulate, and the amygdala, areas of the brain known to play a role in pain modulation. "We found that patients with fibromyalgia have lower receptor availability, also known as binding potential, within 3 structures of the central nervous system. In practical terms, this may indicate that exogenous opiates would not be able to bind to these receptors and therefore would not be able to alleviate the chronic pain that is characteristic of this condition," Richard Harris, PhD, the study's first author, told Medscape Neurology & Neurosurgery. "I think this study gives us a little more information on what, mechanistically, is going on in the central nervous system of these patients. It looks as though the opioid system [of FM patients] is dysfunctional and not operating at the same level as it does in pain-free individuals. If the opioid system is dysfunctional, clinicians may want to reconsider using opioid therapy to treat fibromyalgia patients," Dr. Harris added. The study is published in the September 12 issue of the Journal of Neuroscience. Possible Mechanism According to Dr. Harris, previous research by his group has demonstrated that patients with FM and those with chronic low back pain have increased levels of endogenous opioids in their cerebral spinal fluid (CSF) compared with pain-free individuals. This result, he said, suggests that endogenous pain-management mechanisms in such individuals are activated. This would be consistent with the reduced MOR-receptor availability previously observed by Dr. Harris and colleagues. Part of a larger, ongoing study investigating the impact of acupuncture on FM, the current study sought to determine whether the previous observation of increased levels of endogenous opioids in the CSF of FM patients was associated with decreased MOR-receptor availability, possibly through receptor downregulation. Secondary end points included an investigation of the association of MOR availability with both the affective and sensory dimensions of clinical pain. In addition, researchers examined the relationship between depressive symptoms in FM patients and MOR BP. For the study, 17 right-handed female FM patients were examined with PET and compared with 17 right-handed, age- and sex-matched healthy controls. All analyses were performed using data acquired before acupuncture treatment. Patients were between the ages of 18 and 75 years and met the American College of Rheumatology criteria for the diagnosis of FM for at least 1 year, had pain more than 50% of the time, and were willing to forgo the introduction of any new medications or other treatment for the duration of the study. Depressive Symptoms Patients' clinical pain was assessed immediately before the PET scan using the Short Form of the McGill Pain Questionnaire (SFMPQ). Patients' depressive symptoms were also assessed using the Center of Epidemiological Studies-Depression Scale. PET imaging revealed FM patients had significant reductions in MOR BP compared with controls in the bilateral nucleus accumbens, the left amygdala, and the right dorsal anterior. In addition, researchers found that, among FM patients, MOR BP was negatively correlated with clinical pain ratings in the affective, but not the sensory, dimension of pain. "We looked specifically at the ratio between the affective and the sensory dimensions of pain and found that those people who have more of the affective dimension of pain, which is a measure of the unpleasantness of the pain sensation, have lower binding potential, mostly in the cingulate regions," he said. Finally, the study showed that patients with more depressive symptoms had greater reductions of MOR BP, particularly in the amygdala. Need for Alternate Therapies Dr. Harris said he was surprised to find reductions in receptor availability were local, rather than global. "Based on a previous study, where we found elevated opioid levels in the CSF, I anticipated we would see reductions in receptor availability throughout the brain. However, what we observed was reduced receptor binding limited to very discrete and focal brain regions," he said. To date, said Dr. Harris, there have been no randomized, controlled trials of exogenous opioids in FM. However, he added, the findings of the current study suggest the results of such a trial could be negative. Future research by his team will focus on gaining a better understanding of the pain mechanisms in FM as well as the development of alternative, potentially more effective, therapies for these patients. This research was supported by grants from the Department of the Army; the National Center for Research Resources, a component of the National Institutes of Health (NIH); and the NIH. Dr. Harris was supported by an NIH?National Center for Complementary and Alternative Medicine grant. J Neurosci. 2007;27:10000 -10006. Abstract

Linda, While I understand the hesitancy to accept the kind of information that may seem counterintuitive to you, I would not question the existence of such a phenomenon that your doctor described to you. Trusting a doctor can be difficult, especially if you had bad experience in the past - which I know you and others have had, but it become futile to even go to a doctor if there is always doubt and disbelief about their response to your problems. I just hope that you can eventually find a doctor whom you CAN trust, so that both of you can work towards better managing your symptoms.

Hi Nina, Dealing with family members who don't understand is always difficult. I don't think that because you didn't test positive for this disorder means that you didn't get the validation of your medical problems. I have patients who don't fit into any diagnoses, and and in those cases, their diagnosis becomes a broad diagnostic category with the words like "undifferentiated", "unspecified" or "NOS - not otherwise specified" attached to it. If it would make your family understand better, you can always tell them that you have "an unspecified connective tissue disorder". This happens a lot in rheumatology and immunology when people don't fulfill diagnostic criteria for lupus, for example, but have some features of it nevertheless. The rheumatologist may choose to treat them for lupus, but can't call it lupus, so they come up with something like "an unspecified autoimmune syndrome", or "lupus-like syndrome", etc. Well, I hope these test results did not make you too upset. If it makes you feel any better, clinical genetics is a very new field in medicine and is in the "developing stages" - more than the autonomic disorders field. The geneticists probably didn't add anything in the process of their evaluation, but they didn't take anything away from your problems either, despite the questioned EDS diagnosis.

Melissa, I am glad the blood cultures are negative. Have you also had urine cultures to exclude UTI? I am sure your doctors are on top of it. Drug fevers are common - always bring "fun" for doctors to figure out whether the fever is due to an underlying infection or from the antibiotics that treat it. I hope the fevers are settling down, but please, do be cautious and do not hesitate to go to a hospital if they don't, even though I know you would love to avoid another hospitalization. Best wishes for a speedy resolution of fever , doctorguest

Hi Nina, It's understandable that it would be more definitive for you and your doctors to have a positive genetic testing result. However, not to have diagnostic tests match with a clinically suspected diagnosis is a common conundrum in medicine. Things just don't always add up when evaluating a patient with a complicated disorder. I would venture to say that because you tested negative for this specific mutation does not negate the clinical features of your disorder - that is that some kind of mutation in either collagen, fibroblasts or another component of the cellular matrix may be still present. Yet another possibility is that you may have fallen in the 10% of patients with this disorder whose genetic tests are negative. Do you know what were the reasons behind the geneticist refuting a diagnosis of EDS? This would be valuable to know with respect to whether he is certain that you don't have EDS or whether he is simply not sure if you have it. Therapeutically, I don't think that testing positive for this genetic disorder would have changed much for you, unless of course it involves the factor of having biological children. Essentially, you're still left with the same problems after the testing as before the testing, and this would have been the case even if you had tested positive. As you said, you're back to square one, and I hope you get better pain management as it seems to be a more pressing issue for you at the moment. Take care, doctorguest