Review

Authors: M Altuna-Azkargorta, M Mendioroz-Iriarte

INTRODUCTION

Early diagnosis of Alzheimer disease (AD) through the use of biomarkers could assist in the implementation and monitoring of early therapeutic interventions, and has the potential to significantly modify the course of the disease.

DEVELOPMENT

The classic cerebrospinal fluid and approved structural and functional neuroimaging biomarkers are of limited clinical application given their invasive nature and/or high cost. The identification of more accessible and less costly biomarkers, such as blood biomarkers, would increase their use in clinical practice. We review the available published evidence on the main blood biochemical biomarkers potentially useful for diagnosing AD.

CONCLUSIONS

Blood biomarkers are more cost- and time-effective than CSF biomarkers. However, immediate applicability in clinical practice is relatively unlikely. The main limitations come from the difficulty of measuring and standardising thresholds between different laboratories and the failure to replicate results. Of all the molecules studied, apoptosis and neurodegeneration biomarkers and the biomarker panels obtained through "omics" approaches, such as isolated or combined metabolomics, offer the most promising results.

Topics: Alzheimer Disease; Biomarkers; Early Diagnosis; Humans; Metabolomics

PubMed: 34752348
DOI: 10.1016/j.nrleng.2018.03.006

Review

Authors: Itziar Astigarraga, Luis I Gonzalez-Granado, Luis M Allende...

Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a disorder with high mortality, typically recognised at paediatric age. Without proper treatment, HLH can be fatal. The risk of a rapid progression to multi-organ failure and central nervous system involvement leading to long-term sequelae, are the most feared consequences of a diagnostic delay. Therefore, HLH is a medical emergency that paediatricians should be able to identify in a patient with fever and progressive worsening of general condition. The application of the HLH diagnostic criteria, which include clinical and analytical data (as well as a bone marrow aspirate), and the search for a trigger (infectious, oncological, rheumatological, or metabolic). These are decisive for the establishment of a targeted treatment, which aims at neutralising the trigger and reducing the hyper-inflammation. The most relevant data for general paediatricians are presented in this review, including the physiopathology, diagnosis, and treatment of this serious disease.

Topics: Child; Early Diagnosis; Humans; Lymphohistiocytosis, Hemophagocytic

PubMed: 29871839
DOI: 10.1016/j.anpedi.2018.05.003

National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: IIa. The 2020 Clinical Implementation and Early Diagnosis Working Group Report.

Authors: Carrie L Kitko, Joseph Pidala, Hélène M Schoemans...

Recognition of the earliest signs and symptoms of chronic graft-versus-host disease (GVHD) that lead to severe manifestations remains a challenge. The standardization provided by the National Institutes of Health (NIH) 2005 and 2014 consensus projects has helped improve diagnostic accuracy and severity scoring for clinical trials, but utilization of these tools in routine clinical practice is variable. Additionally, when patients meet the NIH diagnostic criteria, many already have significant morbidity and possibly irreversible organ damage. The goals of this early diagnosis project are 2-fold. First, we provide consensus recommendations regarding implementation of the current NIH diagnostic guidelines into routine transplant care, outside of clinical trials, aiming to enhance early clinical recognition of chronic GVHD. Second, we propose directions for future research efforts to enable discovery of new, early laboratory as well as clinical indicators of chronic GVHD, both globally and for highly morbid organ-specific manifestations. Identification of early features of chronic GVHD that have high positive predictive value for progression to more severe manifestations of the disease could potentially allow for future pre-emptive clinical trials.

Topics: Chronic Disease; Consensus; Early Diagnosis; Graft vs Host Disease; Humans; National Institutes of Health (U.S.); United States

PubMed: 33839317
DOI: 10.1016/j.jtct.2021.03.033

Authors: Giancarlo Logroscino, Daniele Urso, Rodolfo Savica...

The field of neurodegenerative diseases is a major challenge faced by public health and is still in need of robust preventive measures and disease-modifying treatments. Population-based studies can offer the framework in the context of primary and secondary prevention of neurodegenerative diseases. The epidemiology of neurodegenerative disorders in the last decades has focused on descriptive studies mainly based on the use of clinical criteria. However, clinical definition is basically insufficient both to well-characterize different phenotypes and to make an early diagnosis. Descriptive epidemiology needs a new framework to update the area of neurodegenerative research, based on the advancement of both clinical and biological diagnostic criteria and the urgency for an early diagnosis of the disease. In here, we address the present and future of population-based studies in neurodegenerative disorders and discuss the shift of paradigms in the diagnosis of disease and disease definition. We further debate the changes in biomarker implementation models and type of biomarkers used in population-based studies. Descriptive epidemiology of neurodegenerative disorders is rapidly evolving. These implementations will improve the future design and outcome of population-based studies and policy-making in public health intervention.

Topics: Humans; Neurodegenerative Diseases; Alzheimer Disease; Biomarkers; Early Diagnosis

PubMed: 35728570
DOI: 10.1159/000525639

Review

Authors: Lynett Erita Masiwa, Vanessa Moodley

BACKGROUND

Keratoconus (KC) is a corneal ectasia characterised by steepening corneal curvature, changes in refractive error and corneal thickness that result in visual impairment. Early signs of KC include displacement of the thinnest part of the cornea from the central position, changes in the corneal epithelial layer cell distribution, variations in the anterior corneal astigmatism/posterior corneal astigmatism relationship and a variation in corneal thickness. It is important that we review the corneal imaging methods for the diagnosis of preclinical KC.

METHOD

An online literature search was carried out on PubMed. Only publications detailing corneal assessment procedures were considered for this review and any publication on instruments that did not generate KC predictability indices were also excluded from the review. The 308 publications were reviewed.

DISCUSSION

Corneal assessment techniques, with the ability to characterise both the anterior and posterior corneal surfaces, are invaluable in the diagnosis of pre-clinical KC. Reflection based and elevation based corneal imaging systems should be used in conjunction with other assessments such as higher order aberration measuring systems to improve sensitivity and reliability in the diagnosis of pre-clinical KC. Ultra high resolution ultrasound can detect pre-clinical KC. The ability to asses both the epithelium and endothelium makes anterior surface optical coherence tomography a superior technique for pre-clinical KC diagnosis. There is a positive correlation between central corneal thickness and corneal hysteresis. Corneal biomechanics should be considered in conjunction with other corneal assessments in the diagnosis of pre-clinical KC.

Topics: Cornea; Corneal Topography; Early Diagnosis; Humans; Keratoconus; Reproducibility of Results

PubMed: 31917136
DOI: 10.1016/j.optom.2019.11.001

Authors: Denise Bousfield da Silva, Mara Albonei Dudeque Pianovski, Maria Tereza Fonseca da Costa...

Topics: Humans; Adolescent; Child; Early Detection of Cancer; Neoplasms

PubMed: 38865547
DOI: 10.1590/1806-9282.2024S128

Authors: Alphus Dan Wilson

This editorial provides an overview and summary of recent research articles published in journal, volumes 9 (2019) and 10 (2020), within the Special Issue "", which focused on recent sensors, biosensors, and clinical instruments developed for the noninvasive early detection and diagnosis of human, animal, and plant diseases or invasive pests. The six research articles included in this Special Issue provide examples of some of the latest electronic-nose (e-nose) and related volatile organic compound (VOC)-detection technologies, which are being tested and developed to improve the effectiveness and efficiency of innovative diagnostic methodologies for the early detection of particular diseases and pest infestations in living hosts, prior to symptom development.

Topics: Early Diagnosis; Electronic Nose; Humans; Monitoring, Physiologic; Volatile Organic Compounds

PubMed: 32640592
DOI: 10.3390/bios10070073

Authors: Heidi J Siddle, Stephen H Bradley, Anna M Anderson...

Topics: Humans; Arthritis, Rheumatoid; General Practice; Family Practice; Early Diagnosis

PubMed: 36997210
DOI: 10.3399/bjgp23X732321

Authors: Thomas H Marwick, David Kaye

Topics: Early Diagnosis; Echocardiography; Humans; Stroke Volume; Ventricular Dysfunction, Left; Ventricular Function, Left

PubMed: 27085446
DOI: 10.1016/j.jcmg.2016.01.016

Review

Authors: Nurulamin M Noor, Paula Sousa, Stéphane Paul...

Despite huge advances in understanding the molecular basis of IBD, clinical management has continued to rely on a "trial and error" approach. In addition, a therapeutic ceiling has emerged whereby even the most effective interventions are only beneficial for approximately 30% of patients. Consequently, several tools have been developed to aid stratification and guide treatment-decisions. We review the potential application for many of these precision medicine approaches, which are now almost within reach. We highlight the importance of early action (and avoiding inaction) to ensure the best outcomes for patients and how combining early action with precision tools will likely ensure the right treatment is delivered at the right time and place for each individual person living with IBD. The lack of clinical impact to date from precision medicine, despite much hype and investment, should be tempered with the knowledge that clinical translation can take a long time, and many promising breakthroughs might be ready for clinical implementation in the near future. We discuss some of the remaining challenges and barriers to overcome for clinical adoption. We also highlight that early recognition, early diagnosis, early stratification, and early intervention go hand in hand with precision medicine tools. It is the combination of these approaches that offer the greatest opportunity to finally deliver on the promise of precision medicine in IBD.

Topics: Early Diagnosis; Humans; Inflammatory Bowel Diseases; Precision Medicine

PubMed: 34480558
DOI: 10.1093/ibd/izab228