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Archive for the ‘Medical’ Category

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations – NEW SCREENING RECOMMENDATIONS

SEE TABLE 4 WITH NEW SCREENING RECOMMENDATIONS  

February 6, 2012 · PTENLife · 6 Comments
Tags: , ,  · Posted in: Medical, PTEN Mutation, Screening

Mutation in PTEN Gene Can Cause Cancer and Autoimmune disease

http://www.sciencedaily.com/releases/1999/09/990927065349.htm

December 9, 2011 · PTENLife · One Comment
Tags: ,  · Posted in: Cancer, PTEN Mutation

PTEN Hamartoma Tumor Syndrome by Dr Charis Eng

http://www.ncbi.nlm.nih.gov/books/NBK1488/

November 11, 2011 · PTENLife · No Comments
Tags: , , ,  · Posted in: Cancer, PTEN Mutation

Autism Linked to Unusual Shape in Lungs

http://www.webmd.com/brain/autism/news/20111025/autism-linked-to-unusual-airway-shapes

November 11, 2011 · PTENLife · No Comments
Tags: ,  · Posted in: Autism, Medical, Respiratory Issues

NY Becomes 29th State to Adopt Autism Insurance Reform – From the Autism Speaks Blog

http://feedproxy.google.com/~r/AutismSpeaksBlog/~3/MDKRy9FW-zo/

November 11, 2011 · PTENLife · No Comments
Tags: ,  · Posted in: Autism, Medical

California Autism Twin Study Suggests Prenatal Risk Factors

http://www.autismspeaks.org/science/science-news/womb-environment

July 19, 2011 · PTENLife · No Comments
Tags: , ,  · Posted in: Autism, Causes, Medical

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

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

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 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

Meeting with Dr Charis Eng at the Cleveland Clinic

In the summer of 2010, we went to see Dr Charis Eng at the Cleveland Clinic. The National Institute of Health gave us her name when Tommy’s grandfather contacted them to see what else we could learn about Bannayan Riley Ruvalcaba Syndrome. Dr. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome. This was […]

April 30, 2011 · PTENLife · No Comments
Tags: , , , , ,  · Posted in: Congestion, Constipation, Lung Mucous Plugs, Medical, PTEN Life, PTEN Mutation, Respiratory Issues, Skin Rash, tonsillectomy