scholarly journals Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

2016 ◽  
Vol 18 (11) ◽  
pp. 1128-1135 ◽  
Author(s):  
Ines Garcia-Consuegra ◽  
Alberto Blázquez ◽  
Juan Carlos Rubio ◽  
Joaquín Arenas ◽  
Alfonsina Ballester-Lopez ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Mcardle Disease ◽  
Novel Method ◽  
Illegitimate Transcription

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

2016 ◽  
Vol 26 ◽  
pp. S198 ◽  
Author(s):  
A. Ballester-Lopez ◽  
A. Blazquez ◽  
J. Carlos Rubio ◽  
J. Arenas ◽  
A. Gonzalez-Quintana ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Mcardle Disease ◽  
Novel Method ◽  
Illegitimate Transcription

The removal and morphology of intact biofilms from implanted venous access devices

1995 ◽  
Vol 53 ◽  
pp. 1020-1021
Author(s):  
M.A. Gregory ◽  
G.P. Hadley
Keyword(s):  
Patient Selection ◽  
Surgical Oncology ◽  
Venous Access ◽  
Common Procedure ◽  
Indwelling Catheters ◽  
Careful Patient ◽  
Novel Method ◽  
The Subject ◽  
Vascular Catheters ◽  
Venous Access Devices

The insertion of implanted venous access systems for children undergoing prolonged courses of chemotherapy has become a common procedure in pediatric surgical oncology. While not permanently implanted, the devices are expected to remain functional until cure of the primary disease is assured. Despite careful patient selection and standardised insertion and access techniques, some devices fail. The most commonly encountered problems are colonisation of the device with bacteria and catheter occlusion. Both of these difficulties relate to the development of a biofilm within the port and catheter. The morphology and evolution of biofilms in indwelling vascular catheters is the subject of ongoing investigation. To date, however, such investigations have been confined to the examination of fragments of biofilm scraped or sonicated from sections of catheter. This report describes a novel method for the extraction of intact biofilms from indwelling catheters.15 children with Wilm’s tumour and who had received venous implants were studied. Catheters were removed because of infection (n=6) or electively at the end of chemotherapy.

Longitudinal Changes in Individual BrainAGE in Healthy Aging, Mild Cognitive Impairment, and Alzheimer’s Disease

GeroPsych ◽  
2012 ◽  
Vol 25 (4) ◽  
pp. 235-245 ◽  
Author(s):  
Katja Franke ◽  
Christian Gaser
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Healthy Aging ◽  
Brain Aging ◽  
Elderly Subjects ◽  
Additional Increase ◽  
Longitudinal Changes ◽  
Novel Method ◽  
The Brain

We recently proposed a novel method that aggregates the multidimensional aging pattern across the brain to a single value. This method proved to provide stable and reliable estimates of brain aging – even across different scanners. While investigating longitudinal changes in BrainAGE in about 400 elderly subjects, we discovered that patients with Alzheimer’s disease and subjects who had converted to AD within 3 years showed accelerated brain atrophy by +6 years at baseline. An additional increase in BrainAGE accumulated to a score of about +9 years during follow-up. Accelerated brain aging was related to prospective cognitive decline and disease severity. In conclusion, the BrainAGE framework indicates discrepancies in brain aging and could thus serve as an indicator for cognitive functioning in the future.

Increased enquiries for preimplantation genetic diagnosis (PGD)

2014 ◽  
Vol 74 (S 01) ◽  
Author(s):  
KJ Heiliger ◽  
D Gutknecht ◽  
C Adelfalk ◽  
A Eder ◽  
M Bals-Pratsch ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis
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