Friday, April 11, 2014

Predictive testing for inherited prion disease: report of 22 years experience

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

 


 


 


 


 


 


 


 


 


 


 

 
Wednesday, April 2, 2014

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

No comments:

Post a Comment