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Doctor insights on: Homozygous C677t Mutation

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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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My blood test results: total bilirubin: 1.41 h ast: 40 h alt: 100 h total alk phosphatase: 43 l serum total protein: 7.1 e.R. Said hepatitis?

My blood test results:
total bilirubin: 1.41 h
ast: 40 h
alt: 100 h
total alk phosphatase: 43 l
serum total protein: 7.1

e.R. Said hepatitis?

Let's try this...: I have only a little bit of the story you've shared. Perhaps it's time to see whether the ast and alt get back to normal after two weeks off alcohol and any not-totally-necessary meds you may be taking. If so, this is the start of a healthier life after alcohol. If not, the workup for virus infections, iron overload, wilson's, autoimmunity & need for exercise can begin. Good luck. ...Read more

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How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more

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What exactly is glycose 6 phosphate dehydrogenase?

What exactly is glycose 6 phosphate dehydrogenase?

Carbohydrate enzyme: Glucose 6 phosphate dehydrogenase deficiency (g6pd deficiency) is an inherited disorder found mostly in people with african, asian, or middle eastern ancestry. G6pd helps convert carbohydrates into a more useful form. Lack of this enzyme causes red blood cells to become fragile, resulting in the rbcs bursting when stressed. This leads to hemolytic anemia. Infection, drugs & some foods can trigger. ...Read more

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2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...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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WBC 11.3 high, RBC 5.03 High, MCV 81.1 Low, MCH 26.3 Low, NE% 85.1 High, LY% 9.5 low, Neut# 9.6 High, INR 1.080, PTT 37.5 High, Slight Hemolysis noted?

WBC 11.3 high, RBC 5.03 High, MCV 81.1 Low, MCH 26.3 Low, NE% 85.1 High, LY% 9.5 low, Neut# 9.6 High, INR 1.080, PTT 37.5 High, Slight Hemolysis noted?

Any symptoms?: 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, none of the results are a cause for concern. Why were the tests done? Generally it is better to treat the patient rather than laboratory numbers. For good health - Have a diet rich in fresh vegetables, fruits, whole grains, milk and milk products, nuts, beans, legumes, lentils and small amounts of lean meats. Avoid saturated fats. Exercise at least 150 minutes/week and increase the intensity of exercise gradually. Do not use tobacco, alcohol, weed or street drugs in any form. Practice safe sex. ...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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+ Antimitochondrial M2 antibodies w/ 4previous elevated ALP's. Most recent ALP normal. Still suggestive for PBC?

+ Antimitochondrial  M2 antibodies w/ 4previous elevated ALP's. Most recent ALP normal. Still suggestive for PBC?

No: The diagnosis of PBC is made through liver biopsy. The other best tool is the biliruben. Taken together they give a diagnosis and prognosis for survival. As you know PBC is though to be an auto immune disease. ...Read more

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Triglycerides 453 hi. Glucose 132H.Bun 26H. Hemoglobin 11.7 low. Hematocrit 37.5 L. Mchc 31.2 L. RDW 15.5 H. MICROALB CREAT 240 H. VitD 22 L. Father60 and Diabetic . Rest of Cbc and othere normal. What could this be?

Triglycerides 453 hi. Glucose 132H.Bun 26H. Hemoglobin 11.7 low. Hematocrit 37.5 L. Mchc 31.2 L. RDW 15.5 H. MICROALB CREAT 240 H. VitD 22 L. Father60 and Diabetic . Rest of Cbc and othere normal. What could this be?

Need good care: You need to be under the care of a competent physician who can keep your diabetes under control and find the cause of your anemia, which i suspect is due to iron deficiency from blood being lose somewhere. We can't solve it here. If you have a specific question, let us know. ...Read more

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K elevated suspect hemolysis of sample pres. Pat. No lab review the significant abnormalities the mild lower protein diet & mild monocytosis.Means ?

K elevated suspect hemolysis of sample pres. Pat. No lab review the significant abnormalities the mild lower protein diet & mild monocytosis.Means ?

Incomplete info: The information you provided is not readily understandable. Please note that all lab 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. ...Read more

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Male, 40yrs, 72kg, 5'7", ser cholstrl 214, triglycerds 387, HDL 36, LDL 98, vldl 77. Good diet, salt n sugar contrlod. What is causing prob?

Male, 40yrs, 72kg, 5'7", ser cholstrl 214, triglycerds 387, HDL 36, LDL 98, vldl 77. Good diet, salt n sugar contrlod. What is causing prob?

Bad Cholesterol: People who have poor lipid profiles despite having a good diet and regular exercise may have a family history of abnormal cholesterol. These patients tend to have a profound improvement with medication intervention. ...Read more

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41yo F, feeling crappy 6 weeks, onset of unexplained hives, labs 8/25/16 WBC 12.5 , RBC 5.36 Hgb 15.7 Hct 49.6 MCH 29.3 MCH 31.7 RDW 13.3 RDWSD 45.0?

41yo F, feeling crappy 6 weeks, onset of unexplained hives, labs 8/25/16
WBC 12.5 , RBC 5.36 Hgb 15.7 Hct 49.6 
MCH 29.3 MCH 31.7 RDW 13.3 RDWSD 45.0?

Need medical examina: You need to see a doctor for medical check up to find the cause of Hives. It may be an allergic reaction to a medication or any chemicals in your environment. Your WBC count is also high, but we need to know the differential count, a breakdown of WBC into its component cells. You may need to see an allergist if the hives do not go away in a few days. Specialized tests(complement levels) may help ...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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Is this trisomy 22 caused from one of the parents havinga genetic disorder?

Is this trisomy 22 caused from one of the parents havinga genetic disorder?

22 or 21 whatever ?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs.If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy.Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read more

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Can a patient stage 1 papillary thyroid cancer with BRAF mutation positive live more than 20 years ( she is 51 years old) ? Thank you very much!

Can a patient stage 1 papillary thyroid cancer with BRAF mutation positive live more than 20 years ( she is 51 years old) ? Thank you very much!

Yes: Papillary thyroid cancer is very common and some people do not even know they have it as small tumors may be found on autopsy when they die of something else. Generally tumors are graded by how ugly they look to the pathologist and how far they've spread. Your tumor has also been molecularly characterized. There are new treatment options available. Please discuss with your oncologist. ...Read more