scholarly journals Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness

iScience ◽  
2020 ◽  
Vol 23 (11) ◽  
pp. 101667
Author(s):  
Gabriel Velez ◽  
Vinit B. Mahajan
2014 ◽  
Vol 13 (5) ◽  
pp. 175
Author(s):  
A.D. Urbina Lima ◽  
A.B. Albano Del Pozo ◽  
J.J. Colombo Stenstrom ◽  
J. Murillo Mirat ◽  
A. Pijierro Amador ◽  
...  

2018 ◽  
Vol 123 (4) ◽  
pp. 488-494 ◽  
Author(s):  
Paul Harmatz ◽  
Chester B. Whitley ◽  
Raymond Y. Wang ◽  
Mislen Bauer ◽  
Wenjie Song ◽  
...  

2020 ◽  
Vol 21 (1) ◽  
pp. 351-372 ◽  
Author(s):  
Taila Hartley ◽  
Gabrielle Lemire ◽  
Kristin D. Kernohan ◽  
Heather E. Howley ◽  
David R. Adams ◽  
...  

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.


2013 ◽  
Vol 119 (6) ◽  
pp. 1474-1489 ◽  
Author(s):  
Karsten Bartels ◽  
Jörn Karhausen ◽  
Eric T. Clambey ◽  
Almut Grenz ◽  
Holger K. Eltzschig

Abstract Despite the fact that a surgical procedure may have been performed for the appropriate indication and in a technically perfect manner, patients are threatened by perioperative organ injury. For example, stroke, myocardial infarction, acute respiratory distress syndrome, acute kidney injury, or acute gut injury are among the most common causes for morbidity and mortality in surgical patients. In the current review, the authors discuss the pathogenesis of perioperative organ injury, and provide select examples for novel treatment concepts that have emerged over the past decade. Indeed, the authors are of the opinion that research to provide mechanistic insight into acute organ injury and identification of novel therapeutic approaches for the prevention or treatment of perioperative organ injury represent the most important opportunity to improve outcomes of anesthesia and surgery.


Sign in / Sign up

Export Citation Format

Share Document