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Doctor insights on: 19911 A>G Mutation Analysis

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Protein, ur(mg/24 h) - (0-150 mg/24 hr) 324 h protein, total urine - (0-84 mg/gcr) 161 h creatinine clearance - (85.0 - 125.0) 140.6 h creatinine, ur(mg/h) - (41.7 - 83.3) 84.2 h.. My kidneys okay?

Protein, ur(mg/24 h) - (0-150 mg/24 hr) 324 h protein, total urine - (0-84 mg/gcr) 161 h creatinine clearance - (85.0 - 125.0) 140.6 h creatinine, ur(mg/h) - (41.7 - 83.3)  84.2 h.. My kidneys okay?

May not be okay...: Based on one set of test, a definitive conclusion can not be drawn. In fact, a good history, physical exam, serial tests in conjunction with other related tests are required to deduce a conclusion and give a reasonable advice. But, for sure, you need a close follow-up by a related professional such as pcp or nephrologist. Best. ...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


Dr. Liawaty Ho Dr. Ho
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CML 10/12. Gleevec .5 log at 6 mths. Sprycel (dasatinib) .5 log at 6 mths. Stem cell transplant 4/14. 7/14 Blast crisis - 65% blast BM + Aspergillus F lung Help?

Dr. Liawaty Ho Dr. Ho
1 doctor agreed:
CML 10/12. Gleevec .5 log at 6 mths. Sprycel (dasatinib) .5 log at 6 mths. Stem cell transplant 4/14.  7/14 Blast crisis - 65% blast BM + Aspergillus F lung Help?

Difficult case: it is a complicated case obviously. first and foremost the infection has to be treated. i would suggest you to follow up with ID and oncologist very closely. importantly is to check if there is certain mutation like T315i mutation as this mutation is resistant to gleevec, sprycel, tasigna (nilotinib) - and should be treated with ponatinib or aurora kinase inhibitor etc. discuss with oncologist. God bless ...Read more

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Blood: creatinine 1.80; GFR 41. Follow-up labs 48 hrs later: creatinine 1.50; GFR 53. Imm% - 1.8; imm count - .16. Wbc normal. No symptoms. 46-w-male?

Blood: creatinine 1.80; GFR 41. Follow-up  labs 48 hrs later: creatinine 1.50; GFR 53. Imm% - 1.8; imm count - .16. Wbc normal. No symptoms. 46-w-male?

Kidney down briefly?: Both are a bit high for a man in his mid-40s especially if your bodybuilding days are over. Might you have been recovering from a subclinical bout of Ibuprofen nephropathy? It's very common and causes partial renal shutdown. Drink plenty of water if you use nsaids nad consider a follow at your next regular appointment. ...Read more

Dr. Liawaty Ho Dr. Ho
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My dad 70 yrs has macrocytic anemia. Hemoglobin 9.5, hematocrit 28. Hematologist gave maltofer pill a day. In a month hemoglobin 10 hematocrit 30?

Dr. Liawaty Ho Dr. Ho
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My dad 70 yrs has macrocytic anemia. Hemoglobin 9.5, hematocrit 28. Hematologist gave maltofer pill a day. In a month hemoglobin 10 hematocrit 30?

What is the question: Please rephrase your question to get a better answer. Please discuss in detail with his hematologist. The fact that hematologist gave the iron- means that your hematologist thinks there is a component of iron deficiency. So, continue iron and f/u with your md. However, it does not fit exactly with macrocytosis. Other work up still needs to be done to see explanation for macrocytosis. ...Read more

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My father in law had his prostate removed a little over 1yr. Blood test: hemoglobin 9.8 iron 27 hct 31 MCV 71 RBC 4.4 mchc 31 MCH 22 RDW 19.6. Help?

My father in law had his prostate removed a little over 1yr. Blood test: hemoglobin 9.8 iron 27 hct 31 MCV 71 RBC 4.4 mchc 31 MCH 22 RDW 19.6. Help?

Iron deficiency: These lab results are highly suggestive of ferropenic anemia(iron deficiency) more at http://www.Nlm.Nih.Gov/medlineplus/ency/article/000584.Htm talk to his physician for more details about these results and previous prostate pathology. ...Read more

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Are the WBC results 15.6, 14.4, 11.4, 13.5, 12.7, 16.7, 14.4 13.3, 12.4, 15.3, 13.9, 14.4 & 17.8 slightly, moderately or highly elevated in general?

Are the WBC results 15.6, 14.4, 11.4, 13.5, 12.7, 16.7, 14.4 13.3, 12.4, 15.3, 13.9, 14.4 & 17.8 slightly, moderately or highly elevated in general?

Blood tests: There are a few diseases that leap out from blood tests. Most of the time, however, blood tests don't tell the doctor much on their own. These results fall into the second group. Good health to you. It is reassuring that the results do not consistently keep rising. ...Read more

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Wbc 13.2 RBC 4.73 hemoglobin 10.2 hematocrit 33.8 mvc 72 MCH 21.6 mchc 30.2 RDW 16.2 platelets 816, 000.Thoughts?Should i be worried with the platelets

Wbc 13.2 RBC 4.73 hemoglobin 10.2 hematocrit 33.8 mvc 72 MCH 21.6 mchc 30.2 RDW 16.2 platelets 816, 000.Thoughts?Should i be worried with the platelets

Probably reactive: You are anemic and the numbers are suspicious for iron deficiency. If you are a healthy 34 year-old who menstruates regularly, you could easily be low in iron. The plaelet count is very high, but is likely reacting to the low iron and should come down if it is replaced. The elevated white cells (WBC) is not as easy to understand. Inflamation, infection, other? Could use more info. Good luck. ...Read more

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Chloride 94.9 L, Anion Gap 16.1 H, AST 58 H, Immature Granulocytes ABS 0.01 H,Ketones urine SMALL NEG. A, specific gravity urine <1.005 L. ?

Chloride 94.9 L, Anion Gap 16.1 H, AST 58 H, Immature Granulocytes ABS 0.01 H,Ketones urine SMALL NEG. A, specific gravity urine <1.005 L. ?

Plan: It's not clear what you want to know. To explain your abnormalities we need to know your primary condition. Your doctor who know your clinical symptoms and your previous results should explain it to you. ...Read more

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Blood work showed lymph's @ 16.9% with reference range of 20.0 - 50.0. Platelet count was 65 with reference range150-400 thou/u. What could this mean?

Blood work showed lymph's @ 16.9% with reference range of 20.0 - 50.0. Platelet count was 65 with reference range150-400 thou/u. What could this mean?

Need more info: All laboratory results need to be interpreted in the clinical context and the doctor who ordered the tests is usually in the best position to do that. Having said that, if your absolute lymphocyte count is low then along with the low platelet count it suggests a problem with production in the bone marrow. It would be prudent to consult a hematologist. ...Read more

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Normocyt, WNL RDW, anemia-hgb 13, rbc 4.3. PO Fe for 1 yr w/ no improvement. Fe 58, ferritin 15, TIBC 347. Asymptomatic. Thoughts on IV iron?

Normocyt, WNL RDW, anemia-hgb 13, rbc 4.3. PO Fe for 1 yr w/ no improvement. Fe 58, ferritin 15, TIBC 347. Asymptomatic. Thoughts on IV iron?

Too aggressive: With the numbers you're presenting I'm not sure who put the idea of doing IV iron into your thought process. Hb-13 for age 74 isn't far off of expected norms for age. If you want to do SOMETHING check thyroids, serum zinc, serum magnesium, & serum Vitamin D. Eat more spinach, beans, dried fruit, seafood, & poultry. Questions? www.healthtap.com/drsaghafi Use Key Code: PDXFNR to make appointment. ...Read more

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Bloodpresure was 190/109 @ 6am 8:30am 153/93 @10am 167/ 128 what could be causing this swing in presure? Normal BP 120-138/ 60-84

Bloodpresure was 190/109 @ 6am 8:30am 153/93 @10am 167/ 128 what could be
 causing this swing in presure? Normal BP 120-138/ 60-84

Hello. : Hello. I don't know the cause for your blood pressure fluctuations. You wrote in an hour ago. If you blood pressure was taken correctly and is 167/128, please be evaluated at the er. Your diastolic (lower) blood pressure is dangerously high. ...Read more

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Today my doctor prescribe a infertility medicns i.E tinidazole , l_methylfolate, chymoral forte, third generation cephalosporin.Is that good medicn?

Today my doctor prescribe a infertility medicns i.E tinidazole , l_methylfolate, chymoral forte, third generation cephalosporin.Is that good  medicn?

Not fertility meds: The medications you are describing are several antibiotics, vitamins and enzymes. None of these are infertility medications. If you are not sure why he/she prescribed them, you should ask your doctor what they are for. ...Read more

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According to atp-iii guidelines hdl-c >59 mg/dl is considered a negative risk factor for chd. What does this mean?

According to atp-iii guidelines hdl-c >59 mg/dl is considered a negative risk factor for chd.  What does this mean?

It's good: It means that it's a positive marker, that if your HDL is that high it's a move away from coronary artery disease. So it's a good thing. Exercise and certain essential oils can get your hdl's up. ...Read more

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Dear Doctor, 43 y/o, male. RBC count was 4.45 million / mm3 in July and Dec. Other CBC tests are normal. Any clinical significance or concern ?

Dear Doctor,

43 y/o, male. RBC count was 4.45 million / mm3 in July and Dec. Other CBC tests are normal. Any clinical significance or concern ?

Normal can vary. : Your number of red cells can fluctuate based on various things including fluid intake. If hemoglobin and cell volumes are still normal there is little worry in these slight deviation from normal. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

Your doctor: Will be able to analyse the genetic result in combination with your symptoms and physical examination to determine your diagnosis ...Read more

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Thyroseq v2 was mutations NOT detected but analysis limited due to low amount of thyroid epithelial cells.So this test was useless?

Totally: B"sd absolutely right - genetic studies should only be done on an appropriate tissue specimen. To my knowlege, specimens are screened for adequacy before such testing. If the biopsy was indicated in the first place then it must be repeated - usually after an appropriate interval to allow the "needled" tissue to heal. ...Read more

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Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

PossibleOtherVariant: Although your 1&2 UGT1A1 Gene analysis is normal.This variant account for 50%of alleles in many populations.However several allallelic polymorphic variants of this region occur.The most common of which results from adding another dinucleotide repeat TA to the promotor region resulting in A(TA7)AA .So there are other variants in people from south east asia,East Asians and pacific islanders ...Read more

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Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it thank

Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it
thank

Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...Read more

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What is the definition or description of: mutation?

What is the definition or description of: mutation?

Mutation is a change: 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 by mobile genetic elements. ...Read more

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How would mutations have both positive and negative impacts?

Good and bad effects: Mutations are genetic changes that can eliminate a problem, cause a problem or introduce a new solution to the environment. Since most mutations create problems, they have achieved a bad name. But most evolutionary change comes about from the effects of new mutations. ...Read more

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What's a blood mutation?

What's a blood mutation?

Clarify: Blood does not mutate. Genes mutate. A genetic mutation (germline as inherited, somatic as in a neoplastic growth) might affect the blood. Someone who knows their subject won't use the term "blood mutation." perhaps there is a misunderstanding. ...Read more

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How can mutations create new traits?

New protein: Most mutations are problematic and create difficulty or are eliminate with normal bodily defenses. Rarely a mutation makes a new protein which has a useful function manifested as a change in the body or metabolism which confers and advantage and will therefore likely survive to the next generation. ...Read more

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Could gamma radiation cause mutation?

Could gamma radiation cause mutation?

Yes: In llow doses where the dna is not destroyed may cause mutations in dna and effect the nature of the organism that has received the radiation or induce a malignant transformation. ...Read more

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What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info. http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis ...Read more

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How are sunburns and mutations related?

How are sunburns and mutations related?

Sunburns and mutatio: The ultraviolet light from the sun can affect the DNA in the skin cells. ...Read more

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What type of mutation causes hemophilia?

What type of mutation causes hemophilia?

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix. ...Read more

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How do cell mutations happen in fetuses?

How do cell mutations happen in fetuses?

At conception.: At conception the maternal egg or the paternal sperm cell may carry mutations that are passed on to the fetus. ...Read more

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Could hemophilia occur due to a mutation?

Could hemophilia occur due to a mutation?

Yes, a gene mutation: Hemophilia "a" is a hereditary bleeding disorder where there is a deficiency in clotting factor viii (factor viii is needed for blood clotting). It is inherited on the x-chromosome (sex-linked). Men only have 1 "x", so if their "x" is mutated, they will have the disease. Women have 2 "x's", so they can have 1 mutated "x" and 1 normal "x", and be a carrier of the disease, with mild or no symptoms. ...Read more

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What type of mutation causes thalassemia?

What type of mutation causes thalassemia?

Hemoglobin: formation is affected in thalassemia. Mutation in one or both of the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia. ...Read more

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...Read more

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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more