Monday, April 18, 2016

Study - Patau Syndrome - Trisomy 13 survive longer with intensive treatment.


Tsukada, et al 2015 Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients . Cell Biochem Biophys. 2012 Jul; 63(3): 191–198. Published online 2012 Apr 10. doi: 10.1007/s12013-012-9355-0
The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.

Sunday, April 17, 2016

Patau Pataus - Edward Edwards - Down Downs - What is the correct Trisomy Syndrome name?

Trisomy Syndromes named after the Physician who described the genetic disorder. trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy
(an abnormal number of chromosomes). 
https://en.wikipedia.org/wiki/Trisomy
Trisomy 13 Patau Syndrome https://en.wikipedia.org/wiki/Klaus_Patau
Here the are correct terms for the trisomy 13, 18 and 21 Syndromes. Patau, Edwards and Down. Only Edwards has an S.
You'll see many switching these names up with and or without the S but the correct terms for these are - Patau Syndrome, Edwards Syndrome and Down Syndrome.

Saturday, April 9, 2016

Dr Martin Mc Caffrey, Clinical Professor Neonatal-Perinatal Medicine, speaking on Perinatal Hospice


Published on Mar 31, 2016
DR. MARTIN MCCAFFREY, USA Clinical Professor in Neonatal-Perinatal Medicine at UNC Chapel Hill & Director PQCNC speaking at the Perinatal Conference on 30 January 2016 in Dublin. 

A wonderful much needed presentation on the current issues which face newly diagnosed trisomy 13 and 18 families. Professionals who care for these children would benefit by taking the time to view this well put together presentation. Please share with your social networks, friends and medical providers. https://www.youtube.com/watch?v=9_wmI0UQLEo

Perinatal Hospice Palliative Medical Symptoms Treatment Trisomy 13 Prognosis life expectancy
Cardiac Surgery Survival - Research that Matters