Doctor insights on:
I Know This Dude Who Has Mixed Connective Tissue Disease What Is That
Lupus/scleroderma: Mixed connective tissue disease (mctd) is an autoimmune disease that usually has features of lupus and scleroderma. Many people have raynaud's (fingers change color) and puffy fingers, and a positive ANA with a more specific test called "rnp" and may also have rashes, arthritis, or inflammation in other organs. It is treated a lot like lupus. Seeing a rheumatologist is helpful. ...Read more
The body is composed of tissue that are classically described as beiing derived from three basic embyonic layers known as the endoderm, mesoderm and ectoderm that then differentiate into the structures that compose the body such as skin, soft tissues, bone, muscle, organs, etc. Stem cells are not differentiated and have the potential to ...Read more
I've been diagnosed with pots and a connective tissue disorder. The cardiologist said this could explain years of problems and pain. A geneticist is next.This has been so difficult. What does it mean?
Need to seek causes: Pots & connective tissue disorder are syndromes that may partly explain your problems but the deeper question is what is the underlying cause of these. Western medicine doesn't know, but a holistic doctor can explore issues like adrenal fatigue, heavy metal toxicity, food allergies, nutrient deficiencies & chronic infections that may lead to your problems being cured rather than treating symptoms. ...Read moreSee 2 more doctor answers
I have been reading online and have read that when the rnp is the only antibody that is positive that this indicated mixed connective tissue disease?
Labs can confuse.: The labs are just a fraction of what needed to get you better. Your history and physical exam will determine your treatment. Looking for which labs will delay and confuse. You need to develop a few paragraphs of all your issues and sit down with your doctor to put the pieces together. Began a wellness program and add in magnesium and acupuncture. ...Read more
Some, including Dr's think just because a person has Reynaud's, they have Scleroderma. I hear this is untrue?
Yes it is untrue: Raynaud's can be present in an isolated form, called Raynaud's disease then. OR it can be a part of another connective tissue syndrome, such as Scleroderma, and then its called Raynaud's phenomenon. In other words, not all patients with Raynaud's have Scleroderma. See a good rheumatologist to manage your disease. ...Read more
My aunt was just diagnosed with MS and she is 33 or 34. How likely is this disease hereditary? I don't know of anybody else ever having this?
Multifactorial: Ms is not a genetic disorder, but does affect folks who are genetically susceptible, if specific environmental triggers are present. We are aware or prior ebstein-barr viral infections, low vitamin d, latitude prevalences, smoking risks, etc. You are not at any especial risk statistically due to your aunt's issues, indeed your risk is well under 0.5%. ...Read moreSee 1 more doctor answer
Cancer staging and what it means i was diagnosed as a T4 cancer patient, and have yet to be given a clear definition of that phrase. Can anyone answer this? Thank you
Where did tay-sach originated from? From what organism or plant do people get this disease? I know this is a genetic disease but how did it become a genetic disease?
Human : Human genetic diseases arise because of mutations in the genetic information carried in the reproductive cells (eggs and sperm or the cells that make them). Genetic information is stored in the complex molecule called dna, which has properties that allow it to be copied, kind of like the way a computer disk can be copied. Dna contains information packed into functional units called genes, which behave like individual computer programs, and often create proteins that contribute to the machinery of the cells that make up our bodies. Just like the way the information on a computer disk can become corrupted when it is stored over time (imagine a cd or dvd exposed to sun, scratches, or dust) or when it is being copied, the information stored in dna can be corrupted either when stored or when copied. This is called a mutation. Some mutations can produce machinery that doesn't work at all, and some mutations produce machinery with properties that are different than those of the original gene. Tay sachs disease (also called hexosaminidase a deficiency) is caused by a mutation in the hexa gene that makes the machine (or enzyme) called hexosaminidase a. When it is not mutated, this enzyme helps to break down complicated sugar-like molecules in human cells. The mutation that causes tay sachs disease makes a non-working enzyme. The sugar-like molecules build up in cells, and lead to serious problems. (children with tay sachs disease may die by the age of 4.) every human cell has two copies of just about every gene. One copy is from the father, and one copy is from the mother. If you get a mutated hexa gene from one parent, and a normal hexa gene from the other parent, the normal gene will make working hexosasminidase a, and you will be able to break down those sugars... So you won't die... So you may live to pass your genes on to your children. When parent passes on genes to a child, only one of the two copies is passed. (if this didn't happen, then each generation would have twice as many genes as their parents.) so, a parent with one good copy and one bad copy of a gene, has about a 50:50 chance of passing the bad gene on to a child. To get tay sachs disease, a child has to get two bad copies of the hexa gene. One from each parent. ...Read moreSee 1 more doctor answer
PBC in dudes: 90% of pbc patients are female. Age ranges 20-80, but typically patients are 40-60. The disease is world-wide, & affects asians, caucasians, jews, african. Family clustering is common in sisters, twins, daughters, mothers. While environmental factors can't be ignored, a strong immunogenetic background for pbc that runs in families is suggested. Early sxs: fatigue, itching before jaundice, RUQ pain. ...Read more
Is sle a serious type of disease? Recently my sister was diagnosed with this disease, but the biopsy is yet to be conduct.
Has anyone ever heard of conversion disorder and what exactly is and is something you could grow out of answers asap?
A complex problem: Conversion disorder(cd) is a psychiatric disorder that mimics neurologic disease. Usually the symptoms prevent the person from performing some problematic activity that they have at least mixed feelings about. The cd often goes away when the demand for the activity goes away. One does not grow out of it, but one can grow from learning about it. ...Read more
Can you tell me if a disease is genetic, does that mean that everyone with that disease is related?
No,it is from a gene: No, it means that the cause of the disease is from a gene. Sometimes, however, there are spontaneous mutations in the gene. Certain conditions, such as neurofibromatosis, have a very high spontaneous mutation rate, so there will be no family history of the disease prior to the affected patient. Because it is an autosomal dominant disease, any child will have a 50% chance of having the disease. ...Read more
I just found out that one of my good friends has chron's disease. Is it considered a terminal disease?
Cancer Specialist: I have been told by a friend that a biopsy can determine the stage of cancer. I say this is incorrect-only surgery does it. Hmm?
Staging: In most cancers, there is a pathological staging as well as staging determined by the extent of spread. The initial pathological staging can usually be done by biopsy while the surgery is needed to determine the extent of spread outside of the primary tumour. So, in fact you are both right. ...Read more
MCTD!: Mixed connective tissue disease a much milder disease than the cousins it may share features with: sly, sjogren's, scleroderma. It is characterized by find the "rnp" antibody, in the absence of the sm-antibody. Usually treated with plaquenyl. May have milder sjogren's, raynauds than other diseases, may cause joint pain, but no damage. We treat the sx that dominate and vary between pts with mctd. ...Read more
What is connective tissue disorder and is it something I should have my PCP check me for? My PT is suspicious of it b/c of hyper-mobile joints
Here's the facts: "Connective tissue disorder" is an archaic term for a group of systemic illnesses including lupus, scleroderma, dermatomyositis and maybe rheumatoid arthritis. Neither has anything to do with hyper-mobile joints, which are more likely caused by mild variants of Ehlers-Danlos or simply genetic hyperextensible joints ("double-jointed"), an autosomal dominant probem with no need to treat. ...Read moreSee 1 more doctor answer
Doctor thinks I have a rare autoimmune disease that isn't usually detected in testing? She is referring me to a rheumatologist? What might it be?
I don't know: as you didn't mention specifics, even though we won't be able to diagnose online. Rheumatologist would have more detailed history and physical exam, may order some tests, or may rule it out completely, good luck ...Read more
My dad has very bad polymyalgia rheumatic disease. I have undiff connective tissue disease (current dx) , do you think autoimmune is in our genes?
Likely: Having a family history of autoimmune disease make it more likely that a person will develop one or more autoimmune processes. It is by no means a certainty. But the odds increase. As such, unexplained symptoms such as fevers, weight loss, rashes, joint pains, swelling, liver or kidney symptoms should be evaluated by your physician with possible referral to a rheumatologist or immunologist. ...Read moreSee 1 more doctor answer
Brain dysfunction: Encephalopathy is a general term that refers to any disturbance in brain function such as level of conciousness, attention, or orientation to time, place or person. It is often used to describe a patient who is disoriented, confused, drowsy, or agitated. This may be due to process in the brain (e.g. Stroke, tumor, hemorrhage, infection, etc) or outside the brain (e.g. Liver or renal disease, etc). ...Read moreSee 1 more doctor answer
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