Somatic Mosaicism in a Patient with Gaucher Disease Type 2: Implication for Genetic Counseling and Therapeutic Decision-Making

2000 ◽  
Vol 26 (6) ◽  
pp. 611-612 ◽  
Author(s):  
Mirella Filocamo ◽  
Gloria Bonuccelli ◽  
Raffaella Mazzotti ◽  
Fabio Corsolini ◽  
Marina Stroppiano ◽  
...  
Haemophilia ◽  
2016 ◽  
Vol 22 (5) ◽  
pp. e439-e443 ◽  
Author(s):  
L. Rugeri ◽  
M. Fretigny ◽  
Y. Dargaud ◽  
C. Nougier ◽  
C. Vinciguerra

2017 ◽  
Vol 13 (02) ◽  
pp. 51 ◽  
Author(s):  
Sanjay Kalra ◽  
Yashdeep Gupta ◽  
◽  

‘B eta-cell failure’ is a frequently used term to describe the structural and functional inability of the cells to fulfil their metabolic responsibility. This editorial reviews the anatomy and physiology of the beta cell, and describes factors which regulate this. The authors focus on semantics, comparing the phrases ‘beta-cell failure’, ‘functional mass’, and ‘beta-cell insufficiency’. They suggest the use of ‘beta-cell insufficiency’, with descriptors such as ‘partial’ and ‘complete’, or ‘reversible’ and ‘irreversible’, to convey betacell dysfunction in type 2 diabetes. A three-phase taxonomic structure: beta-cell sufficiency, partial/reversible beta-cell insufficiency and complete/irreversible beta-cell insufficiency, is proposed as a tool to understand pathophysiology and facilitate therapeutic decision-making.


1995 ◽  
Vol 11 (3) ◽  
pp. 384-390 ◽  
Author(s):  
Jerry Avorn

AbstractThere is an informational void about Pharmaceuticals in the training of most doctors, despite the importance of the prescription in medical care. The writing of the prescription is the final common pathway in therapeutic decision making, which involves such diverse forces and disciplines as anthropology, decision science, health economics, ethics, and politics, as well as pharmacology and clinical medicine. Programs to improve the precision and cost-effectiveness of doctors' prescribing must consider all of these factors if pharmacotherapeutics are to be used optimally.


2013 ◽  
pp. 179-191
Author(s):  
Shalini Shenoy ◽  
Reinhold Munker ◽  
Kerry Atkinson

2013 ◽  
pp. 159-164
Author(s):  
Reinhold Munker ◽  
Vishwas Sakhalkar ◽  
Hillard M. Lazarus ◽  
Kerry Atkinson

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