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Doctor insights on: Npm Mutation Analysis

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter , DNA mutation (mthfr, a1at ...) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Ana positive 160 with lambda bj protein in urine (total 2 gm/day). Diabetic ckd r/o myeloma. Creatinine 1.5-2.6 variable. Hem unaware of lcdd. Steps?

Ana positive 160 with lambda bj protein in urine (total 2 gm/day). Diabetic ckd r/o myeloma. Creatinine 1.5-2.6 variable. Hem unaware of lcdd. Steps?

Multiple myeloma: Multiple myeloma diagnosis needs more information, need the hemoglobin level, calcium level, need serum immunoglobulin level and urine BJ protein of course. Some times you may need a bone marrow biopsy for the confirmation of the diagnosis. You need to see an Oncologist/Hematologist ...Read more

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Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Interesting question: When I searched for lp40331, I found it to be the part no. for a John Deere T-shirt. The leprosy susceptibility genetic loci are fascinating, however. Armauer Hanson discovered Mycobacterium leprae in Bergen, Norway in 1873. Genetic susceptibility to leprosy was long suspected by epidemiologists, and now confirmed, explaining why many family or tribe members are resistant. See OMIM.org %609888 ...Read more

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Fatigue studies (CFS?): Merit of mitochondrial tests e.g. ATP-ATP, ANT/AAC, Mg-ATP, mito. O2 util., Zn/Cu-SOD, Mn-SOD, GSHPx? Any viable treatments?

Fatigue studies (CFS?): Merit of mitochondrial tests e.g. ATP-ATP, ANT/AAC, Mg-ATP, mito. O2 util., Zn/Cu-SOD, Mn-SOD, GSHPx? Any viable treatments?

No proven Rx: CFS remains a puzzling problem and there is no specific test to pinpoint the cause. I have a feeling that your tests were ordered by someone not in traditional medicine . There are many ways people with CFS may obtain relief but supplements (if that doctor wants to sell you some ) are not likely to offer proven benefits. . ...Read more

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Semen analysis color-geyirish-white /time-35 min volume-1.0ml /count-122ml/million/ pus cells- plenty/ motility-85% /morphology-normal please help me?

Semen analysis color-geyirish-white /time-35 min
volume-1.0ml /count-122ml/million/ pus cells-
plenty/ motility-85% /morphology-normal please help me?

Semen analysis: What do you need help with? Why was the semen analysis done? Except for the volume that is low, your sperm count seems normal. White cells may or may not be an indication of infection. If you have no symptoms, there may be nothing to worry about. ...Read more

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Urine chemistry. MA RANDOM URINE 4.7H ref rng<1.9 mg/dl Comments. =1= results is expressed in ug microalbumim/mg creatine help interpret this.

Urine chemistry. MA RANDOM URINE 4.7H ref rng<1.9 mg/dl  Comments. =1= results is expressed in ug microalbumim/mg creatine help interpret this.

Kidney function: Microalbumin is a test used to measure the progression of kidney damage in patients who are at risk. Ex. Patients with diabetes, high blood pressure. In patients with normal kidneys, albumin is kept inside the body. If its found in the urine, it means the kidney is damaged and can't hold the albumin in. Taking meds like advil and ibuprofen hurt your kidneys as well. Keep your pressure controlled ...Read more

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My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

Not cessarily: The urinalysis should be repeated first, if microscopic hematuria( blood in urine) persist, a sonogram or cat scan may be needed to for further evaluation, kidney stone can cause blood in urine, may need to a see a urologist for further evaluation if urinalysis remain abnormal. ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

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How do a gene mutation and a chromosomal mutation differ?

How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

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What does this mean:cerebral spinal fluid analysis: glucose 3.3 mmol/l, chlorides 92.3 mmol/l, protein 0.66 g/l, cytosis 208 (10^6)/l lymphocytes90%?

What does this mean:cerebral spinal fluid analysis: glucose 3.3 mmol/l, chlorides 92.3 mmol/l, protein 0.66 g/l, cytosis 208 (10^6)/l  lymphocytes90%?

Consistent with...: ...Meningitis; glucose in CSF should be at or above 2/3 of blood glucose, and 90% lymphocytes differential is suggestive of, but not diagnostic for, viral meningitis. Until cultures come back (2-3 days) must be treated as bacterial. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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A patient with serum creatinine 1.3 and his 24 hours urine routine specifies that albumin releases with his urine. should he take renolog tablets?

A patient with serum creatinine 1.3 and his 24 hours urine routine specifies that albumin releases with his urine. should he take renolog tablets?

I doubt it: How does he FEEL? "Renolog" is a mix of amino acids that's being pushed in India for everybody suspected of having anything going on with the kidneys. Creatinine of 1.3 is anything but kidney failure; when I was lifting weights daily, mine ran 1.7 to 1.8 from high muscle mass. Is he diabetic? Albumin in the urine is usually harmless orthostatic protinuria. I'd get at least a second opinion. ...Read more

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My father's (aged 70 with diabetes) lab tests reveal creatinine of 4.21, bun of 39, serum k is 4, 3+ protein in urine. Can dialysis be avoided?

My father's (aged 70 with diabetes) lab tests reveal creatinine of 4.21, bun of 39, serum k is 4, 3+ protein in urine. Can dialysis be avoided?

For some time yes!: Ask your doctor the eGFR or CrCl (creatinine Clearance) of your father,i.e. the rough estimation of his kidney function. The elective initiation of dialysis is planned when that number drops below 15cc/min, to improve survival and general sense of well being. Otherwise in the absence of complications(high potassium, etc), controlling diabetes and hypertension can delay but not prevent the dialysis ...Read more

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