Article European Journal of Human Genetics , (9 April 2014) |
doi:10.1038/ejhg.2014.42
Predictive testing for inherited prion disease: report of 22 years
experience
Jane Owen, Jon Beck, Tracy Campbell, Gary Adamson, Michele Gorham,
Andrew Thompson, Sarah Smithson, Elizabeth Rosser, Peter Rudge, John Collinge
and Simon Mead
Abstract
The inherited prion diseases (IPD) are a group of untreatable
neurodegenerative diseases that segregate as autosomal dominant traits.
Mutations in the prion protein gene (PRNP) were first found to be causal of IPD
in 1989, before the molecular genetic characterisation of any other
neurodegenerative disease. Predictive testing for IPD has subsequently been
carried out at a single UK clinical and research centre for 22 years. We have
analysed the uptake, consequences and factors influencing the decision for
predictive testing over this period. In all, 104 predictive tests were done on
individuals at 50% risk, compared with 135 positive diagnostic tests. Using
genealogies from clinical records, we estimated that 23% of those at 50% risk
have completed testing. There was no gender bias, and unsurprisingly, there was
a slight excess of normal results because some patients were already partly
through the risk period because of their age. An unexpectedly large number of
patients developed symptoms shortly after predictive testing, suggesting that
undisclosed early symptoms of disease may prompt some patients to come forward
for predictive testing. Fifteen per cent of predictive tests were done >10
years after molecular diagnosis in a proband. A strong determinant of the timing
of testing in these patients was a second diagnosis in the family. IPD may
generate infectious prions that might be transmitted by surgical procedures;
however, we found no evidence that public health information influenced
decisions about predictive testing.
>>> Inherited Prion Disease IPD may generate infectious prions
that might be transmitted by surgical procedures; <<<
yep, that’s why I already hypothesized. see here ;
Friday, January 10, 2014
vpspr, sgss, sffi, TSE, an iatrogenic by-product of gss, ffi, familial type
prion disease, what it ???
Greetings Friends, Neighbors, and Colleagues,
vpspr, sgss, sffi, TSE, an iatrogenic by-product of gss, ffi, familial type
prion disease, what it ???
Confucius is confused again.
I was just sitting and thinking about why there is no genetic link to some
of these TSE prion sGSS, sFFi, and it’s really been working on my brain, and
then it hit me today.
what if, vpspr, sgss, sffi, TSE prion disease, was a by-product from
iatrogenic gss, ffi, familial type prion disease ???
it could explain the cases of no genetic link to the gss, ffi, familial
type prion disease, to the family.
sporadic and familial is a red herring, in my opinion, and underestimation
is spot on, due to the crude prehistoric diagnostic procedures and criteria and
definition of a prion disease.
I say again, what if, iatrogenic, what if, with all these neurological
disorders, with a common denominator that is increasingly showing up in the
picture, called the prion.
I urge all scientist to come together here, with this as the utmost of
importance about all these neurological disease that are increasingly showing up
as a prion mechanism, to put on the front burners, the IATROGENIC aspect and the
potential of transmission there from, with diseases/disease??? in question.
by definition, could they be a Transmissible Spongiform Encephalopathy TSE
prion type disease, and if so, what are the iatrogenic chances of transmission?
this is very important, and should be at the forefront of research, and if
proven, could be a monumental breakthrough in science and battle against the
spreading of these disease/diseases.
the US National Library of Medicine National Institutes of Health pub-med
site, a quick search of the word SPORADIC will give you a hit of 40,747. of
those, there are a plethora of disease listed under sporadic. sporadic simply
means (UNKNOWN).
the US National Library of Medicine National Institutes of Health pub-med
site, a quick search of the word FAMILIAL will give you a hit of 921,815. of
those, there are a plethora of disease listed under familial.
again, sporadic and familial is a red herring, in my opinion.
also, in my opinion, when you start have disease such as sporadic Fatal
Familial Insomnia, (and or sporadic GSS, or the VPSPr type prion disease), and
there is NO familial genetic linkage to the family of the diseased, I have
serious questions there as to a familial type disease, and thus, being defined
as such.
Wednesday, November 09, 2011
Case report Sporadic fatal insomnia in a young woman: A diagnostic
challenge: Case Report TEXAS
IATROGENIC
all iatrogenic cjd is, is sporadic CJD, until route and source of the
iatrogenic event that took place, is detected, documented, placed in the
academic domain as fact, and recorded, which happens very seldom due to a lot of
factors, besides the incubation period, and that be mainly industry. kind of
like asbestos and tobacco and the industry there from, they knew in the early
1900’s that they both were killing, and they both had long incubation, and
somebody chose not to do anything about if for decades and decades. kind of like
what we have here with the TSE prion disease. $$$
> In 12 of 15 hospitals with neurosurgical incidents, a decision was
made to notify patients of their potential exposure.
SO, X number of patients, from 3 hospitals, where
''exposure to potentially CJD-contaminated instruments ''
took place on these patients, the final decision NOT to tell those folks
about the potential exposure to the CJD TSE prion
insane, thus, the TSE prion agent continues to spread. ...
please see further comments here ;
snip...see full text ;
Friday, January 10, 2014
*** vpspr, sgss, sffi, TSE, an iatrogenic by-product of gss, ffi, familial
type prion disease, what it ???
also see ;
Sunday, April 06, 2014
*** SPORADIC CJD and the potential for zoonotic transmission there from,
either directly or indirectly via friendly fire iatrogenic mode, evidence to
date
Tuesday, April 01, 2014
*** Questions linger in U.S. CJD cases 2005, and still do in 2014
*** our results raise the possibility that CJD cases classified as VV1 may
include cases caused by iatrogenic transmission of sCJD-MM1 prions or food-borne
infection by type 1 prions from animals, e.g., chronic wasting disease prions in
cervid. In fact, two CJD-VV1 patients who hunted deer or consumed venison have
been reported (40, 41). The results of the present study emphasize the need for
traceback studies and careful re-examination of the biochemical properties of
sCJD-VV1 prions. ***
Thursday, January 2, 2014
*** CWD TSE Prion in cervids to hTGmice, Heidenhain Variant
Creutzfeldt-Jacob Disease MM1 genotype, and iatrogenic CJD ??? ***
Tuesday, March 11, 2014
Science and Technology Committee Oral evidence: Blood, tissue and organ
screening, HC 990 Wednesday 5 March 2014 SPORADIC CJD
Actually, it is nearer 2 per million per year of the population will
develop sporadic CJD, but your lifetime risk of developing sporadic CJD is about
1 in 30,000. So that has not really changed. When people talk about 1 per
million, often they interpret that as thinking it is incredibly rare. They think
they have a 1-in-a-million chance of developing this disease. You haven’t.
You’ve got about a 1-in-30,000 chance of developing it.
Friday, August 16, 2013
Creutzfeldt-Jakob disease (CJD) biannual update August 2013 U.K. and
Contaminated blood products induce a highly atypical prion disease devoid of
PrPres in primates
Sunday, January 19, 2014
National Prion Disease Pathology Surveillance Center Cases Examined1 as of
January 8, 2014
Sunday, August 09, 2009
CJD...Straight talk with...James Ironside...and...Terry Singeltary... 2009
CJD QUESTIONNAIRE USA
FDA TSEAC CIRCUS AND TRAVELING ROAD SHOW ON THE TSE PRION DISEASE
From: CBER OCOD Consumer Account Sent: Wednesday, February 05, 2014 9:29 AM
To: mailto:flounder9@verizon.net Subject: RE: 8720 FW: Blood, tissue and organ
screening SINGELTARY SUBMISSION
Dear Mr. Singeltary:
Thank you for your recent inquiry to the Center for Biologics Evaluation
and Research (CBER). CBER, one of seven centers within the Food and Drug
Administration (FDA), is responsible for the regulation of many
biologically-derived products, including blood intended for transfusion, blood
components and derivatives, vaccines, allergenic extracts, and cell, tissue and
gene therapy products. We hope the following information will be helpful.
Currently, there are no TSEAC meetings on the schedule for 2014, but that
does not mean there aren’t going to be any meetings this year. You can sign up
for notifications of Advisory Committee meetings at the following website: http://www.fda.gov/AdvisoryCommittees/Calendar/default.htm.
Alternatively, you can check the Advisory Committee Calendar posted on the same
page.
Additional information is also available through the OC-Advisory Committee
Oversight and Management Staff. For your convenience, I have copied their
contact information below: OC-Advisory Committee Oversight and Management Staff
Food and Drug Administration10903 New Hampshire Avenue
WO32 - 5129
Silver Spring, MD 20993-0002
Phone: 301-443-0572
Phone: 1-800-741-8138
We hope this information has been helpful.
Sincerely,
Hope Anderson Consumer Safety Officer Consumer Affairs Branch Division of
Communication and Consumer Affairs Center for Biologics Evaluation and Research
U.S. Food and Drug Administration Follow us on Twitter: http://www.twitter.com/fdacber This
informal communication represents my best judgment at this time. It does not
constitute an advisory opinion in accordance with 21 CFR 10.85, and does not
necessarily represent the formal position of FDA or otherwise obligate the
agency to the views expressed.
From: Terry S. Singeltary Sr. [mailto:flounder9@verizon.net]
Sent: Thursday, January 30, 2014 11:05 AM
To: CBER OCOD Consumer Account
Cc: Emery, Bryan (CBER); Monser, Martha; mmturner@gwu.edu;
pschwartz@choc.org; parisi.joseph@mayo.edu; bcaughey@nih.gov;
patrick.bosque@dhha.org; APPLEBB@ccf.org
Subject: Fw: Blood, tissue and organ screening SINGELTARY SUBMISSION
Greetings FDA TSEAC et al,
I am concerned about recent revelations with TSE prion science, disturbing
new risk factors, and the fact I see no upcoming TSEAC meetings about these risk
factors.
could you please tell me when the next TSEAC meeting will be, and if there
will be any in 2014, and if you will addressing any of these new risk factors
???
Thank You,
kind regards,
terry
From: CBER OCOD Consumer Account
Sent: Friday, January 13, 2012 3:14 PM
To: mailto:flounder9@verizon.net
Subject: RE: 5043 FW: TSEAC
Dear Mr. Singeltary:
Thank you for your recent inquiry to the Center for Biologics Evaluation
and Research (CBER). CBER, one of seven centers within the Food and Drug
Administration (FDA), is responsible for the regulation of many
biologically-derived products, including blood intended for transfusion, blood
components and derivatives, vaccines, allergenic extracts, and cell, tissue and
gene therapy products. We hope the following information will be helpful.
*** There are no TSEAC meetings on the schedule yet for 2012, but that does
not mean there aren’t going to be any meetings this year. You can sign up for
notifications of Advisory Committee meetings at the following website: http://www.fda.gov/AdvisoryCommittees/Calendar/default.htm.
Alternatively, you can check the Advisory Committee Calendar posted on the same
page.
On July 29, 2011, FDA published a Public Notice requesting that any
consumer organizations interested in participating in the selection of voting
and/or nonvoting consumer representatives to serve on its advisory committees or
panels, notify FDA in writing. A copy of this Notice is available at the
following web address: http://www.gpo.gov/fdsys/pkg/FR-2011-07-29/html/2011-19066.htm.
Additional information is also available through the OC-Advisory Committee
Oversight and Management Staff. For your convenience, I have copied their
contact information below: OC-Advisory Committee Oversight and Management Staff
Food and Drug Administration 10903 New Hampshire Avenue
WO32 - 5129
Silver Spring, MD 20993-0002
Phone: 301-443-0572
Phone: 1-800-741-8138
We hope this information has been helpful.
Sincerely,
Jill Burkoff
Consumer Safety Officer Consumer Affairs Branch Division of Communication
and Consumer Affairs Center for Biologics Evaluation and Research US Food and
Drug Administration
This communication is consistent with 21 CFR 10.85 (k) and constitutes an
informal communication that represents my best judgment at this time but does
not constitute an advisory opinion, does not necessarily represent the formal
position of FDA, and does not bind or otherwise obligate or commit the agency to
the views expressed.
‘FDA TRAVELING ROAD SHOW’, OR what I call the FDA TRAVELING THREE RING
CIRCUS I.E. FDA, USDA, CDC.
(8:30 a.m.)
CHAIRMAN BROWN: My name is Dr. Paul Brown. Welcome to the FDA traveling
road show. We are asked yet once more by the FDA to consider a question of
theoretical risk in the absence of sufficient knowledge on which to base any
firm conclusion.
The issue before us today is that of excluding categories of American blood
donors who have either visited or resided for longer periods of time in Great
Britain. The issue is sufficiently delicate, as you see that we have been moved
outside the Beltway.
(Laughter.)
TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES ADVISORY COMMITTEE MEETING
Thursday, June 2, 1999
CHAIRMAN BROWN: My name is Dr. Paul Brown. Welcome to the FDA traveling
road show. We are asked yet once more by the FDA to consider a question of
theoretical risk in the absence of sufficient knowledge on which to base any
firm conclusion. The issue before us today is that of excluding categories of
American blood donors who have either visited or resided for longer periods of
time in Great Britain. The issue is sufficiently delicate, as you see that we
have been moved outside the Beltway. (Laughter.)snip... "Dr. Alan Williams is
employed by the American Red Cross, Holland Labs,and is Scientific Adviser for
the Florida Blood Services and Canadian Blood Services. In addition, he has
financial interests in firms that could be affected by the general discussions.
"Dr. Richard Race has financial interests in firms that could be affected by the
general discussions and is a public health science researcher. "In the event
that the discussions involve specific products or specific firms for which FDA
participants have a financial interest, the participants are aware of the need
to exclude themselves from such involvement. And their exclusion will be noted
for the public record. A copy of the waivers is available by written request
under the Freedom of Information Act. "With respect to all other meeting
participants, we ask in the interest of fairness that they address any current
or previous financial involvement with any firm whose product they may wish to
comment upon." So ends the reading of the conflict of interest statement. Dr.
Brown, I turn the meeting over to you.snip...
CJD VOICE
Do prions cause Parkinson disease?: The evidence accumulates (pages 331–333)
http://betaamyloidcjd.blogspot.com/2014/04/do-prions-cause-parkinson-disease.html
Saturday, January 16, 2010
Evidence For CJD TSE Transmission Via Endoscopes 1-24-3 re-Singeltary to
Bramble et al
Evidence For CJD/TSE Transmission Via Endoscopes
From Terry S. Singletary, Sr flounder@wt.net 1-24-3
U.S.A. 50 STATE BSE MAD COW CONFERENCE CALL Jan. 9, 2001
kind regards, terry
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