The evidence landscape in precision medicine

2020 ◽  
Vol 12 (540) ◽  
pp. eaaw7745 ◽  
Author(s):  
Spencer Phillips Hey ◽  
Cory V. Gerlach ◽  
Garrett Dunlap ◽  
Vinay Prasad ◽  
Aaron S. Kesselheim

Precision medicine is beginning to make an impact on the treatment of different diseases, but there are still challenges that must be overcome, such as the complexity of interventions, the need for marker validation, and the level of evidence necessary to demonstrate effectiveness. In this Perspective, we describe how evidence landscapes can help to address these challenges.

2021 ◽  
Vol 22 (18) ◽  
pp. 9815
Author(s):  
Gladys G. Olivera ◽  
Andrea Urtasun ◽  
Luis Sendra ◽  
Salvador F. Aliño ◽  
Yania Yáñez ◽  
...  

Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the clinic, and how to distinguish them from the ones that still need validation to confirm their utility. Further aspects as relevant characteristics regarding ontogeny and future directions in the research will also be discussed.


2020 ◽  
Vol 125 (11) ◽  
pp. 1013-1023
Author(s):  
Antonio Esposito ◽  
Guglielmo Gallone ◽  
Anna Palmisano ◽  
Livia Marchitelli ◽  
Federica Catapano ◽  
...  

Abstract The purpose of this article is to provide an overview on the role of CT scan and MRI according to selected guidelines by the European Society of Cardiology (ESC) and the American College of Cardiology/American Heart Association (ACC/AHA). ESC and ACC/AHA guidelines were systematically reviewed for recommendations to CT and MRI use in specific cardiovascular (CV) clinical categories. All recommendations were collected in a dataset, including the class of recommendation, the level of evidence (LOE), the specific imaging technique, the clinical purpose of the recommendation and the recommending Society. Among the 43 included guidelines (ESC: n = 18, ACC/AHA: n = 25), 26 (60.4%) contained recommendations for CT scan or MRI (146 recommendations: 62 for CT and 84 for MRI). Class of recommendation IIa (32.9%) was the most represented, followed by I (28.1%), IIb (24%) and III (11.9%). MRI recommendations more frequently being of higher class (I: 36.9%, IIa: 29.8%, IIb: 21.4%, III: 11.9%) as compared to CT (I: 16.1%, IIa: 37.1%, IIb: 27.4%, III: 19.4%). Most of recommendation (55.5%) were based on expert opinion (LOE C). The use of cardiac CT and cardiac MR in the risk assessment, diagnosis, therapeutic and procedural planning is in continuous development, driven by an increasing need to evolve toward an imaging-guided precision medicine, combined with cost-effectiveness and healthcare sustainability. These developments must be accompanied by an increased availability of high-performance scanners in healthcare facilities and should emphasize the need of increasing the number of radiologists fully trained in cardiac imaging.


1990 ◽  
Vol 64 (04) ◽  
pp. 497-500 ◽  
Author(s):  
Martin H Prins ◽  
Jack Hirsh

SummaryWe evaluated the evidence in support of the suggestion that the risk of deep vein thrombosis after hip surgery is lower with regional than with general anesthesia. A literature search was performed to retrieve all articles which reported on the incidence of postoperative thrombosis in both fractured and elective hip surgery. Articles were included if the method of anesthesia used was reported and if they used mandatory venography. Based upon the quality of study design the level of evidence provided by a study was graded.In patients who did not receive prophylaxis there were high level studies in elective and fractured hip surgery. All studies showed a statistically significantly lower incidence of postoperative deep vein thrombosis with regional anesthesia (relative risk reductions of 46-55%). There were no direct comparative studies in patients who received prophylaxis. However, between study comparisons did not show even a trend towards to lower incidence of postoperative thrombosis with regional anesthesia.


Author(s):  
J. Terrence Jose Jerome

Abstract Background The natural history of scaphoid nonunion is the development of degenerative arthritis. A lot of information is still unclear about this progression. The purpose of this study is to analyze patients with scaphoid nonunions who had not received any kind of treatment and to assess the functional outcome. Materials and Methods This is a retrospective study that analyzed the patients with chronic scaphoid nonunions between 2009 and 2019. None of the patients received any treatment. The age at the time of injury, examination, pattern of fracture, types of scaphoid nonunion, symptoms, and duration of nonunion were noted. Diagnosis was confirmed by radiographs, computed tomography (CT) scan, and magnetic resonance imaging (MRI). Scapholunate and radiolunate angles were recorded. Pain score, modified mayo wrist score, grip strength, range of movement, and the functional outcome of these scaphoid nonunions were analyzed. A statistical correlation between the scaphoid nonunion presentations and the functional outcome was assessed. Results The mean age of the patients was 62 years (range: 35–82 years.). There were 17 male and 3 female patients. There were 9 waist and 11 proximal pole scaphoid nonunions. The mean duration of scaphoid nonunion was 34 years (range: 10–62 years). None of the patients had avascular necrosis (AVN) of the proximal scaphoid. The age at examination, gender, side of injury, fracture pattern (waist/proximal pole), fracture displacement ≤ 1 mm or > 1 mm, nonunion duration, and radiographic arthritic parameters had no significant impact on the functional outcome. Conclusions Untreated chronic scaphoid nonunion leads to the development of degenerative arthritis over a period of years, which is still unpredictable. Most of the patients become aware of the nonunion following a precedent injury or other reasons. Most of the patients have fair/good functional outcome despite reduced range of movements and grip strength. Many do not favor surgical intervention in the course of nonunion. Chronic nonunions open a lot of unanswered questions. Clinical relevance There have been numerous studies on the treatment aspects of scaphoid nonunion, with little knowledge about certain people with nonunion who did not have any kind of treatment. The demographics, clinical findings, and radiological parameters do confirm the progression of these nonunion to arthritis, but most of them had fair-to-good outcome throughout their life. It opens our thinking about the real need of treatment in such nonunions and raises numerous questions about the disease. Level of evidence This is a Level IV study.


Author(s):  
Tomoyuki Kato ◽  
Taku Suzuki ◽  
Makoto Kameyama ◽  
Masato Okazaki ◽  
Yasushi Morisawa ◽  
...  

Abstract Background Previous study demonstrated that distal radioulnar joint (DRUJ) plays a biomechanical role in extension and flexion of the wrist and suggested that fixation of the DRUJ could lead to loss of motion of the wrist. Little is known about the pre- and postoperative range of motion (ROM) after the Sauvé–Kapandji (S-K) and Darrach procedures without tendon rupture. To understand the accurate ROM of the wrist after the S-K and Darrach procedures, enrollment of patients without subcutaneous extensor tendon rupture is needed. Purpose This study aimed to investigate the pre- and postoperative ROM after the S-K and Darrach procedures without subcutaneous extensor tendon rupture in patients with rheumatoid arthritis (RA) and osteoarthritis (OA). Methods This retrospective study included 36 patients who underwent the S-K procedure and 10 patients who underwent the Darrach procedure for distal radioulnar joint disorders without extensor tendon rupture. Pre- and postoperative ROMs after the S-K and Darrach procedures were assessed 1 year after the surgery. Results In the S-K procedure, the mean postoperative ROM of the wrist flexion (40 degrees) was significantly lower than the mean preoperative ROM (49 degrees). In wrist extension, there were no significant differences between the mean preoperative ROM (51 degrees) and postoperative ROM (51 degrees). In the Darrach procedure, the mean postoperative ROM of the wrist flexion and extension increased compared with the mean preoperative ROM; however, there were no significant differences. Conclusion In the S-K procedure, preoperative ROM of the wrist flexion decreased postoperatively. This study provides information about the accurate ROM after the S-K and Darrach procedures. Level of Evidence This is a Level IV, therapeutic study.


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