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Doctor insights on: Rett Syndrome Mutation Analysis

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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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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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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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Dr. Joshua Batt Dr. Batt
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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
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Wear a wrist brace at night
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Take pain medications as directed
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Use proper posture when performing tasks
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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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How can you tell a child has mild rett syndrome?

How can you tell a child has mild rett syndrome?

Genetic testing: RettĀ“s syndrome is a genetic disorder almost always affecting girls. Genetic testing as well as a very detailed exam can give you answers. Typically girls start off with normal development up until about 18 months, sometimes the first symptom is the arms and legs get floppy, and loss of hand movements that are purposeful. It afects the brain, cognition and breathing patterns amongst other things. ...Read more

Dr. Felix Toro Dr. Toro
<b>1</b> doctor agreed:
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Living with Asperger's Syndrome (Checklist)

Learn about your condition
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Listen, listen, listen
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Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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What are the odds of having another child with rett syndrome?

What are the odds of having another child with rett syndrome?

Very low: 99.5% of the time, there is just one child with rett syndrome in a family. This rare genetic condition occurs almost always in girls. It's caused by a mutation of the mecp2 gene on the x chromosome. The international rett syndrome foundation (http://www.Rettsyndrome.Org/) can be very helpful. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
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Reverse PCOS & problems with HFLC foods, study: http://goo.gl/JH8XBX
daily
Monitor your weight and review your diet daily.
daily
Blend exercises which make sense into your daily routine
daily
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Is there a conncection between rett syndrome and bald spots?

Is there a conncection between rett syndrome and bald spots?

Nice question: Rhett's syndrome is a pervasive developmental disorder peculiar to girls. Odd & purposeless hand motions such as excessive rubbing can lead to focal areas of hair loss. Trichtillomania (neurotic pulling out hair) requires purposeful fine motor coordinated action to pull hair. So rubbing is the way a rett child would lose hair patches. ...Read more

Dr. Seema Lalani
64 doctors shared insights

Rett Syndrome (Definition)

A rare genetic mutation affecting ...Read more