Archive for May, 2011

Curemark Completes Enrollment of Phase III Autism Trial

http://www.curemark.com/news/2011/03/21/curemark-completes-enrollment-of-phase-iii-autism-trials/ http://www.curemark.com/disease-targets/autism/

May 8, 2011 · PTENLife · No Comments
Tags: ,  · Posted in: Autism, Treatment

The Power of a Teacher

Tommy and his swim coach: http://www.ryerecord.com/Rye%20Record%20Website%2005.06.11/Big%20Strokes.htm

May 8, 2011 · PTENLife · 3 Comments
Tags: ,  · Posted in: Autism, Treatment

Simple Quiz Speeds Diagnosis of Autism in Infants

http://online.wsj.com/article/SB10001424052748703367004576289360947431574.html?mod=djemalertNEWS

May 1, 2011 · PTENLife · 2 Comments
Tags: , ,  · Posted in: Autism, PTEN Life, Screening

Benign Growths and Lesions

Dr Eng mentioned that in general certain benign growths and lesions should not be removed in patients with a PTEN mutation as they tend to regrow even larger (examples were lesions of the mouth, face and hands that have not been seen to become malignant).  Of course, these should be checked and followed by a doctor.  […]

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Growths and Lesions, Medical, PTEN Life, PTEN Mutation

Dural Arteriovenous Malformation in a Child with BRRS

http://www.ajnr.org/cgi/reprint/27/9/1927.pdf

May 1, 2011 · PTENLife · No Comments
Tags: , , ,  · Posted in: Arteriovenous Malformations, Medical, PTEN Life, PTEN Mutation

Lhermitte Duclos Disease and Multiple Hamartoma Syndrome

Lhermitte Duclos Disease is a rare tumor of the cerebellum that grows slowly. http://www.associatedcontent.com/article/2774918/lhermitteduclos_disease_pg2.html?cat=5

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Growths and Lesions, Medical, PTEN Life, PTEN Mutation

MIT Research: Multiple Genes Implicated in Autism in Mice

Massachusetts Institute of Technology looked at how mutations in PTEN and serotonin transporter genes together produce greater autism symptoms in mice. http://web.mit.edu/newsoffice/2009/autism-gene-0209.html

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Autism, PTEN Life, PTEN Mutation

Mutation of the KILLIN gene is responsible for Cowden like symptoms in people without PTEN mutation

http://www.cleveland.com/medical/index.ssf/2010/12/cleveland_clinic_researchers_h.html

May 1, 2011 · PTENLife · No Comments
Tags: ,  · Posted in: Growths and Lesions, Medical, PTEN Life

Researchers Create Scoring System for PTEN Mutation Testing

Led by Dr Charis Eng,  the study established more stringent diagnostic criteria as to who should undergo testing for PTEN mutation.  In addition, the study established that a higher diagnostic store correlates with lower PTEN proteins.  “ A higher diagnostic score correlates with lower PTEN protein, substantiating previous laboratory studies that show lower PTEN levels associate with […]

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Medical, PTEN Life, PTEN Mutation, Screening

Seaside Therapeutics is creating a new Autism drug treatment

Seaside Therapeutics Reports Positive Data from Phase 2 Study of STX209 in Autism Spectrum Disorders.  Study to Advance. http://www.seasidetherapeutics.com/sites/default/files/news_media-release_2010-09-09.pdf And reports advances in the treatment of Fragile X Syndrome. http://www.seasidetherapeutics.com/sites/default/files/Seaside_ACS_release_5_18_2011.pdf They have a pipeline summary of the drugs they are investigating for treatment of Autism and Fragile X. http://www.seasidetherapeutics.com/pipeline-overview

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Autism, PTEN Life, Treatment

Should Autistic Children be tested for the PTEN Mutation

http://www.associatedcontent.com/article/2991138/should_autistic_children_be_tested_pg2.html?cat=25

May 1, 2011 · PTENLife · No Comments
Tags: , , ,  · Posted in: Autism, PTEN Life, PTEN Mutation, Screening

The Dr Oz Show addresses the controversial topic of what causes autism

http://www.doctoroz.com/videos/what-causes-autism-pt-1?hs317=billboard_5

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Autism, Causes, PTEN Life

The Genetics of PTEN Mutations, Symptoms, Diagnosis and Cancer Screening Protocols

Information including, what is a PTEN mutation, what are the clinical symptoms, how is it diagnosed, how is it inherited, reproductive options for people with the mutation wishing not to pass it on, and cancer screening protocols. http://www.chop.edu/service/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html

May 1, 2011 · PTENLife · No Comments
Tags: , , , , ,  · Posted in: Autism, Macrocephaly, Medical, PTEN Life, PTEN Mutation, Screening

The Relationship between PTEN Mutation and Autism

With regard to the link between autism and PTEN mutation, I will do my best to explain my understanding. Current research indicates that about 20% of people with PTEN mutation have developmental delays and are on the autism spectrum, in varying degrees. Autism is a description of symptoms: communication delays, impaired social interaction and/or restricted and […]

May 1, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Autism, PTEN Life, PTEN Mutation