diagnostic strategies
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Author(s):  
Weronika Kraczkowska ◽  
Lucyna Stachowiak ◽  
Andrzej Pławski ◽  
Paweł Piotr Jagodziński

Abstract microRNAs are non-coding molecules, approximately 22 nucleotides in length, that regulate various cellular processes. A growing body of evidence has suggested that their dysregulated expression is involved in the pathogenesis of diverse diseases, including diabetes mellitus type 2 (DM2). Early onset of this chronic and complex metabolic disorder is frequently undiagnosed, leading to the development of severe diabetic complications. Notably, DM2 prevalence is rising globally and an increasing number of articles demonstrate that DM2 susceptibility, development, and progression differ between males and females. Therefore, this paper discusses the role of microRNAs as a source of novel diagnostic biomarkers for DM2 and aims to underline the importance of sex disparity in biomarkers research. Taking into account an urgent need for the development of sex-specific diagnostic strategies in DM2, recent results have shown that circulating miRNAs are promising candidates for sex-biased biomarkers.


2022 ◽  
Vol 16 ◽  
pp. 117954682110657
Author(s):  
Joseph Assad ◽  
Giuseppe Femia ◽  
Patrick Pender ◽  
Tamer Badie ◽  
Rohan Rajaratnam

Takotsubo Syndrome (TTS) is a condition of transient left ventricular dysfunction that is typically triggered by emotional or physical stress. Since first described in Japan in 1990, it has increasingly been recognised in clinical practice, accounting for up to 2% of Acute Coronary Syndrome (ACS) presentations. In fact, the clinical presentation can be indistinguishable from a myocardial infarction. Although current evidence suggests a catecholamine induced myocardial stunning, the pathophysiological mechanisms remain unknown. Interestingly, it is more common in woman, particularly those who are post-menopausal. This review aims to summarise the current research and provide an overview of the diagnostic strategies and treatment options.


2022 ◽  
pp. 297-317
Author(s):  
Mathew Leonardi ◽  
Jodie Avery ◽  
Mary Louise Hull

Author(s):  
Dalia Morales-Arráez ◽  
Federica Benítez-Zafra ◽  
Felicitas Díaz-Flores ◽  
María Jesús Medina-Alonso ◽  
Luz Goretti Santiago ◽  
...  

2021 ◽  
Vol 72 (2) ◽  
pp. 171-197
Author(s):  
FAISAL ALOTAIBI

Abstract The epidemic of COVID-19 spread quickly through China and engulfed all of the countries across the globe. Several advances have been made in understanding the novel coronavirus’s pathophysiology and in the development of newer diagnostics with pinpoint accuracy. Several newer therapeutic methods have either been accepted or are awaiting acceptance. In many countries, vaccination programs have been rolled out. Despite all these efforts, coronavirus still exists, though with lesser propensity. Multiple new forms of the novel coronavirus unexpectedly appeared in various areas of the world, undermining previously existing diagnosis and care protocols. This article highlights our understanding of the novel coronavirus’s symptoms in brief, pathogenesis, diagnostics, and therapeutic strategies to contain COVID-19. The clinical findings, including serological, radiological, and other advanced diagnostic strategies, contributed much to control the disease. To date, supportive interventions have been used in tandem with potent antiviral therapies such as remdesivir, lopinavir/ritonavir, or corticosteroids with a level of trust in the care of COVID-19 patients. However, in several areas of the world, vaccination initiatives took place; the vaccines’ safety and efficacy to control the outbreak is yet to be identified. This review concludes that improvement in therapies and diagnostics for COVID-19 must continually be explored as new variants constantly emerge.


2021 ◽  
Author(s):  
Milou A.M. Stals ◽  
Toshihiko Takada ◽  
Noémie Kraaijpoel ◽  
Nick van Es ◽  
Harry R. Büller ◽  
...  

Author(s):  
Monica Neagu ◽  
Carolina Constantin ◽  
Mihaela Surcel

The current COVID-19 pandemic has triggered an accelerated pace in all research domains, including reliable diagnostics methodology. Molecular diagnostics of the virus and its presence in biological samples relies on the RT-PCR method, the most used and validated worldwide. Nonconventional tests with improved parameters that are in the development stages will be presented, such as droplet digital PCR or CRISPR-based assays. These molecular tests were followed by rapid antigen testing along with the development of antibody tests, whether based on ELISA platform or on a chemiluminescent microparticle immunoassay. Less-conventional methods of testing antibodies (e.g., lateral flow immunoassay) are presented as well. Left somewhere in the backstage of COVID-19 research, immune cells and, furthermore, immune memory cells, are gaining the spotlight, more so in the vaccination context. Recently, methodologies using flow-cytometry evaluate circulating immune cells in infected/recovered patients. The appearance of new virus variants has triggered a surge for tests improvement. As the pandemic has entered an ongoing or postvaccination era, all methodologies that are used to monitor public health focus on diagnostic strategies and this review points out where gaps should be filled in both clinical and research settings.


2021 ◽  
Author(s):  
Elizabeth Wan ◽  
Daniela Iancu ◽  
Emma Ashton ◽  
Keith Siew ◽  
Barian Mohidin ◽  
...  

Background: Distinguishing patients with the inherited salt-losing tubulopathies (SLT), Gitelman or Bartter syndrome (GS or BS) from wildtype (WT) patients who purge is difficult. We decided to identify clinical/biochemical characteristics which correctly classify SLT. Methods: 66 patients with possible SLT were recruited to a prospective observational cohort study at the UCL Renal Tubular Clinic (London). 31 datapoints were recorded on each patient. All patients were genotyped for pathogenic mutations in genes which cause SLT; 39 patients had pathogenic variants in genes causing SLT. We obtained similar datasets from cohorts in Taipei and Kobe; the combined dataset comprised 419 patients, 291 had genetically confirmed SLT. London and Taipei datasets were combined to train machine learning (ML) algorithms. These were then tested on the Kobe dataset to determine the best biochemical predictors of genetic confirmation of SLT. Results: Single biochemical variables (e.g. plasma renin) were significantly, but inconsistently different between SLT and WT, in the London and combined cohorts. A decision table algorithm using serum bicarbonate and urinary sodium excretion (FENa) achieved a classification accuracy of 74%. A simpler algorithm based on the FECl achieved a classification accuracy of 61%. This was superior to all of the single biochemical variables identified previously.


JAMA ◽  
2021 ◽  
Vol 326 (21) ◽  
pp. 2135
Author(s):  
Marcel Levi ◽  
Nick van Es

2021 ◽  
Vol 31 (06) ◽  
pp. 472-481
Author(s):  
Charlotte Bendixen ◽  
Erwin Brosens ◽  
Wendy Kay Chung

AbstractCongenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.


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