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Doctor insights on: Men2 And Fmtc Mutations

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Can CML cause cyclic thrombocytopenia , but normal WBC and RBC in adult male patient?

Can CML cause cyclic thrombocytopenia , but normal WBC and RBC in adult male patient?

CML cyclic thrombocytopenia: Yes, multiple variations exists on this topic. Recently, a number of patients has been reported who presented de novo with the acute blastic crisis of CML.4.9 This type of leukemia was confirmed by the presence of a Ph1 chromosome in bone marrow metaphases. These patients apparently never had the 3- to 4-year phase of overproduction of marrow myeloid elements which typifies the usual case of CML. These observations suggest that CML can manifest itself as a highly variable clinical picture. One extreme is represented by the patient who presents de novo with the blastic cell crisis, the other by the patient who shows a prolonged phase of leukocytosis periodically interrupted by a spontaneous or chemotherapeutic induced remission. The current patient, although presenting with an infrequently recognized stage of this disease, would suggest that the evolution of CML may be characterized by a chronic relapsing and spontaneously remitting course ...Read more

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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Is there a commercial test to look at the kras mutation?

Is there a commercial test to look at the kras mutation?

Yes, but...: Yes, but more context is needed, because blood tests for kras are applicable to noonan syndrome and cardiofaciocutaneous syndrome, and tumor tests for kras are relevant to treatment of metastatic colorectal cancer. ...Read more

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How exactly is galactisemia a genetic disorder/mutation?

How exactly is galactisemia a genetic disorder/mutation?

Galactosemia genetic: Galactosemia is a disease that affects how body processes a sugar called galactose which is present e.g. In dairy. It is an autosomal recessive condition which means that each parent is a carrier of a nonfunctional copy of a gene. Because their other copy of that gene is functional they don't have symptoms. If both parents pass on the nonfunctional copy to a child, the child will have galactosemia. ...Read more

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What's the normal range in percentage for cd3, cd4, cd8, cd5, cd19 and cd20 antigens in peripheral blood for female adults?

What's the normal range in percentage for cd3, cd4, cd8, cd5, cd19 and cd20 antigens in peripheral blood for female adults?

Why do you ask?: You are of course talking about percentages of either all white blood cells or of lymphocytes. This question does not arise in general clinical medicine, and if someone has offered this to you without a strong suspicion of immunodeficiency or leukemia, you need to insist on an explanation. And in such workups, the search is either for a mutant clone or a grave deficiency; percentages are moot. ...Read more

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How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

Not too much problem: In duhamel procedure, for aganglionic colon ( hirschsprung's disease) distal aganglionic colon is anatomosed to proximal ganglionic ( good ) colon side by side anastomosis excessive distal colon will be crushed, shold not be a problem to do endoscopy. ...Read more

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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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Ovarian cyst rupture a month ago.Gyno ordered ultrasound, CBC w diff w platelets, TSH 3rd gen, prolactin.What are these tests to determine?

Ovarian cyst rupture a month ago.Gyno ordered ultrasound, CBC w diff w platelets, TSH 3rd gen, prolactin.What are these tests to determine?

What symptoms: are you having? You should probably ask your doctor what he/she is looking for. TSH and PRL are hormones produced by the pituitary gland. Ovarian cysts are common and it would be unlikely that your doc ordered these tests because of the cyst. ...Read more

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3 early MCs no live birth. 32yrs. All tests normal autoimmune, antiphosopolipid, hormonal, karyotyping. Turner's in 1 fetus. Should we try again & how?

3 early MCs no live birth. 32yrs. All tests normal autoimmune, antiphosopolipid, hormonal, karyotyping. Turner's in 1 fetus. Should we try again & how?

Yes: Don't give up, get followed by infertility/hi risk obstetrics doctor, at one point a medical geneticist input might be needed. For genetic / chromosomal disorders PIGD, Pre- Implantation Genetic Diagnosis can be resorted to so as not implant an embryo with a known major genetic/chromosomal disease, good luck ...Read more

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Can you tell me in which region of the HIV genome does the m41l mutation takes place?

Can you tell me in which region of the HIV genome does the m41l mutation takes place?

See Below: This mutation is one that is involved in resistance of the HIV virus to certain types of anti HIV drugs. If you google this there is a lot of good information with gene maps, discussion of the drugs that the mutation causes resistance to etc. ...Read more

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What would b the cause of chronic high T cell counts, cd4, 5, 7, and 8. A T-cell beta gene rearrangement, elevated IGG, elevated LGL's, but normal CBC?

What would b the cause of chronic high T cell counts, cd4, 5, 7, and 8. A T-cell beta gene rearrangement, elevated IGG, elevated LGL's, but normal CBC?

Reason for doing it: What was the reason you got this done. In all patients we don't do T cell count, Immunoglobulin level estimation etc. What were your symptoms. Based on your answerc an give a better explanation. In any patient we do CBC- complete blood count with differential count.Only in people with suspected immunodeficiencies/hematological problems-dyscrasias is the term we use, detailed Tcell,B cell ,Ig done ...Read more

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Heterozygous for MTHFR, have high Protein C & Fact, VIII. Taking 3mg methylfolate for 3 mo, homocysteine normal . Reason to follow up w. hematologist?

Heterozygous for MTHFR, have high Protein C & Fact, VIII. Taking 3mg methylfolate for 3 mo, homocysteine normal . Reason to follow up w. hematologist?

No: Forgive my frankness. Most of us pathologists do not believe in this MTHFR screening being promoted by a lab to physicians worried about liability. A majority of folks test "abnormal" and are then offered questionable vitamin supplements. Reference ranges arbitrarily put several percent of healthies outside; high protein C and factor VIII are not worrisome especially if you feel well. ...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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Smoke/alco free 15 months. New labs show high ldh + lipase; borderline low amylase + globulin. Already ruled out ibd, celiac, mono, hep, hiv, tb, lupus, ra. July ct=normal liver/kidneys/panc. Cancer?

Smoke/alco free 15 months. New labs show high ldh + lipase; borderline low amylase + globulin. Already ruled out ibd, celiac, mono, hep, hiv, tb, lupus, ra. July ct=normal liver/kidneys/panc. Cancer?

MRCP: Looks like you have pancreatitis, but if you have not had alcohol, need mrcp to see if there any pancreatic duct abnormalities. Need more info, were you drinking before and did you have multiple pancreatits before? Mrcp followed by eus would help. Ercp may be needed once acute episode is resolved, or if you find any stricture in the duct. ...Read more

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Dr. Liawaty Ho Dr. Ho
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I have three blood relatives (brother, father, uncle) who all had different types of cancer. Will cancer gene test work for me?

Dr. Liawaty Ho Dr. Ho
1 doctor agreed:
I have three blood relatives (brother, father, uncle) who all had different types of cancer. Will cancer gene test work for me?

Genetic test: You should talk to your brother or father or uncle ( if possible-off course) - regarding genetic testing. The one (s) who is/are affected with the cancer- would be the one (s) who should consider to have genetic testing. If any particular genetic mutation is positive then you probably would need to consider about getting the genetic testing for yourself. ...Read more

Dr. John Chiu Dr. Chiu
5 doctors agreed:
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Flow cytometry shows 53% cd4+30 dual and absolute count of 2,425. Also found some cd4+25 dual 3% absolute count 137. Is this normal? Sign of disease?

Dr. John Chiu Dr. Chiu
5 doctors agreed:
Flow cytometry shows 53% cd4+30 dual and absolute count of 2,425. Also found some cd4+25 dual 3% absolute count 137. Is this normal? Sign of disease?

What's the tests for: Since there is no single blood test which provides a diagnosis and flow cytometry is a dynamic process, what was your doctor trying to look for? What were the indications? Were the CD4 CD25 + or -? ...Read more

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I've had abnormal and worsening labs for 4yrs w/ increasing ANA to 1:640, homo pattern & antiphospholipid antibody, now all labs are perfect;how/why?

I've had abnormal and worsening labs for 4yrs w/ increasing ANA to 1:640, homo pattern & antiphospholipid antibody, now all labs are perfect;how/why?

Bad lab: A neg. Test when others are positive may be a lab error. These tests are difficult to perform and some of the lab methods are poor quality. Whether the test is negative or positive has no meaning if you have no symptoms. Don't get hung up on a lab result. There are many people who have had positive tests like yours with no illness. The more important issue is do you have any signs of disease. ...Read more

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Have low platelet, splenomegaly,high LDH, B2M and C-reactive protein, normal marrow, cytometry and pet scan,normal WBC, possible CML? fish ?PCR need?

Have low platelet, splenomegaly,high LDH, B2M and C-reactive protein, normal marrow, cytometry and pet scan,normal WBC, possible CML?  fish ?PCR need?

Autoimmune: Sounds like the good news is cancer had been ruled out. The tests and physical problems you listed can have many causes. Infections especially viral, are a cause. Medications or environmental exposures are possible. Autoimmune diseases are also a big possibility. Your next step should be a rheumatologist. ...Read more