Originally posted by Pooka1
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Advanced Maternal Age Associated with AIS?
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Not just Axial Boiotech, ALL references including the SRS. You obviously misunderstood that one Weinstein reference.
All AIS is familial. It is perverse to deny it.
If you disagree please post several references like you state exist making a clear definitional distinction between
1. familial AIS, and
2. AIS
All AIS is familial and the consensus is it is polygeneic and multifactorial (meaning types of genetic inhertiance) as affected by environment (meaning things influencing the genetics).
That, my dear bunnies, is why that researcher stated simply, "It's all genetics." It's a succinct and accurate summary of the consensus which is not to be confused with correct.
If anyone can find a reference for a single researcher working on germ theory or anything non-genetic, I hope they post it.
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Originally posted by Pooka1 View PostHre is an abstract showing explicitly that:
familial AIS = AIS
(emphasis added)
http://journals.lww.com/spinejournal...tor_in.21.aspx
Spine:
1 September 2003 - Volume 28 - Issue 17 - pp 2025-2028
doi: 10.1097/01.BRS.0000083235.74593.49
Genetics
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Originally posted by Pooka1 View PostNote bolded section... all AIS is familial
http://scoliscore.com/Default.aspx?a...iosis-genetics
Adolescent Idiopathic Scoliosis (AIS)
"7. In adolescent scoliosis the age of the mother is significantly raised by comparison with the expected figure for the normal population."
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All the studies I have read make a distinction between familial scoliosis where other members of the family have scoliosis and idiopathic scoliosis where the person is unable to identify a single other person with scoliosis in their family lineage. Axial Biotech is the only group that doesn't. And funny thing, Axial Biotech deliberately studied familial scoliosis in order to determine the genetic tree of a group of familial cases of scoliosis from Utah that has a very homogeneous population with large families.
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Originally posted by mariaf View PostGreat points, Jess. Most of us are intelligent enough to realize that numbers can be skewed to obtain a desired effect (such as you mention here with regard to small numbers of participants that try to generalize larger populations).
Good science is hard to do.
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Originally posted by jrnyc View Postjust because a study was conducted doesn't make it valid...there are many flawed studies being pointed to as proving something...
and many unimpressive studies...and even more studies with small numbers of participants that try to generalize to larger populations...
jess
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AIS is familial
Note bolded section... all AIS is familial
http://scoliscore.com/Default.aspx?a...iosis-genetics
Adolescent Idiopathic Scoliosis (AIS)
Adolescent Idiopathic Scoliosis (AIS) is the most prevalent pediatric deformity, affecting 2-3% of the population.1-3 AIS is a disease found only in humans4 with no single known cause, making it a multi-factorial condition. A strong genetic link was long suspected in AIS due to anecdotal observations of inheritance patterns in AIS patients. It wasn’t until 1968, 15 years after Watson and Crick reported their discovery of DNA,5 that Wynne-Davies reported that AIS was indeed familial and suggested that it was caused by either dominant or multiple gene inheritance.6 This view was further supported by work performed by others over the next 40 years.7-13 Though 2 – 3% of the general population are diagnosed with AIS, only a very small percentage of those patients (1 – 4%) experience a curve progression requiring multi-level instrumentation and fusion.14 The ability to predict which curves will progress to the point of requiring surgery in patients presenting with a mild scoliotic curve (Cobb angle 10 – 25°), has remained a challenging problem for decades.
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From the SRS site:
http://www.srs.org/patients/adolesce...ook/causes.php
Idiopathic scoliosis frequently runs in families and there is a growing body of evidence that genetics plays a major role.
Now I wonder what that one Weinstein paper with the ratios is supposed to mean. It doesn't mean what you claim it means. Maybe he was saying there is a first degree relative in 1/4 to 1/3 of cases but that wouldn't rule out that the rest of the cases don't have have close relatives. They would have to obtain radiographs of all relatives, living and dead to make that claim. That didn't happen. I have never seen a claim that 66 - 75% of AIS was spontaneous mutations. If/when you find several references on that, then you will have established that. Not before.
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Hre is an abstract showing explicitly that:
familial AIS = AIS
(emphasis added)
http://journals.lww.com/spinejournal...tor_in.21.aspx
Spine:
1 September 2003 - Volume 28 - Issue 17 - pp 2025-2028
doi: 10.1097/01.BRS.0000083235.74593.49
Genetics
Allelic Variants of Human Melatonin 1A Receptor in Patients with Familial Adolescent Idiopathic Scoliosis
Morcuende, Jose A. MD, PhD*; Minhas, Raman PhD(c)†; Dolan, Lori PhD(c)*; Stevens, Jeff PhD*; Beck, John BS†; Wang, Kai PhD‡; Weinstein, Stuart L. MD*; Sheffield, Val MD, PhD†
Supplemental Author Material
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Abstract
Study Design. A genetic study of patients withfamilial adolescent idiopathic scoliosis
Objectives. The purpose of this study was to evaluate the evidence for linkage on chromosome 4q and determine whether mutations in the gene coding for melatonin receptor are present.
Summary of Background Data. Adolescent idiopathic scoliosis is the most common spine deformity arising during childhood, but its cause remains unknown.The fact that adolescent idiopathic scoliosis is often seen in several members of the same family strongly suggests a genetic factor.
Methods. Probands having clinically relevant idiopathic scoliosis (Cobb angle >30°) and their relatives were identified. Radiographic confirmation was required for a positive diagnosis. Linkage analysis was performed with 15 microsatellite markers of chromosome 4q spaced at approximately 10-cM resolution and 5 microsatellite markers surrounding the site for human melatonin receptor. The gene for human melatonin receptor was screened for mutations in the coding region using genomic DNA samples by single-strand conformational polymorphism analysis. Amplimers showing a band shift were reamplified and sequenced bidirectionally.
Results. There was no evidence for linkage at chromosome 4q in this study population. Twenty-nine individuals demonstrated aberrant single-strand conformation polymorphism band patterns, and sequence evaluation demonstrated six genetic polymorphisms for the gene for human melatonin receptor. These genetic variations were found in both affected and nonaffected individuals, and there was no correlation between gene variants and the phenotype for adolescent idiopathic scoliosis.
Conclusions. The results of this study demonstrated no evidence of linkage to chromosome 4q and no mutations in the coding region of the gene for human melatonin receptor. The identification of variants in the human melatonin receptor could provide a useful tool for testing the gene in the predisposition to various other melatonin-related disorders and for clarifying the role of melatonin in adolescent idiopathic scoliosis.
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Originally posted by Ballet Mom View Post
Familial scoliosis means that there are other cases of scoliosis in the family tree. Adolescent Idiopathic Scoliosis means they don't know what causes it.
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Originally posted by Ballet Mom View PostI'm saying that 2/3 - 3/4 of the cases are from people who know of no other family members with scoliosis in their family tree. Genetics, such as hyper-mobility of the joints, obviously plays a role. That doesn't mean a scoliosis gene is being passed down in non-familial cases of scoliosis. That's why they call it idiopathic.
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Originally posted by Pooka1 View PostWell they can start by not publishing so many uncontrolled studies. That will cut down the nonsense by a mile.
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