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Emerging biomarkers in Gaucher disease.

Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from gluc … ts and neuropathy. Although the molecular basis of GD is relatively well understood, currently used biomarkers are nonspecific and inadequate for making finer distinctions between subtypes and in evaluating changes in disease status and guiding therapy. Thus, there is continued effort to investigate and identify potential biomarkers to improve GD diagnosis, …

Digital biomarkers in Parkinson's disease.

Digital biomarker (DB) assessments provide objective measures of daily life tasks and thus hold promise to improve diagnosis and monitoring of Parkinson's disease (PD) patients especially those with advanced stages. Data from DB studies can be used in advanced analytics such as Artificial Intelligence and Machine Learning to improve monitoring, treatment and outcomes. Although early development of inertial sensors as accelerometers and gyroscopes in smartphones provided encouraging results, the use of DB remains limited due to lack of standards, harmonization and consensus for analytical as we

Neuroimaging Biomarkers in Parkinson's Disease.

Idiopathic Parkinson's disease (PD) is a neurodegenerative disorder that affects multiple systems in the body and is characterized by a vari … or prevention and treatment development. Advanced multimodal neuroimaging techniques provide unique biomarkers that can further our understanding of PD at multiple levels ranging from neurotransmitters to neural networks. These neuroimaging biomarkers also have value in clinical application, for example, in the differential diagnosis of PD. As the field cont …

Soluble Biomarkers of Cerebrovascular Pathologies.

Vascular contributions to cognitive impairment and dementia (VCID) is an all-encompassing term that describes cognitive impairment due to cerebrovascular origins. With the advancement of imaging and pathological studies, we now understand that VCID is often comorbid with Alzheimer disease. While researchers in the Alzheimer disease field have been working for years to establish and test blood-based biomarkers for Alzheimer disease diagnosis, prognosis, clinical therapy discovery, and early detection, blood-based biomarkers for VCID are in their infancy and also face challenges. VCID is heterog…

Electrodiagnostic Biomarkers in Paraneoplastic Retinopathy.

OBJECTIVE: Paraneoplastic retinopathy (PNR) is a rapid-onset photoreceptor and post-photoreceptor dysfunction triggered by a cross-reaction between antigens expressed by the underlying tumour and retinal proteins. The present study aims to determine the electrodiagnostic biomarkers that support the diagnosis of PNR and evaluate the effect of treatment. METHODS: A retrospective observational case-controlled study including 25 patients with suspected PNR, of which 11 patients were diagnosed with PNR. The presence of PNR was confirmed based on clinical examination, supported by colour fundus pho…

Biomarkers for Managing Neurodegenerative Diseases.

Neurological disorders are the leading cause of cognitive and physical disability worldwide, affecting 15% of the global population. Due to the demographics of aging, the prevalence of neurological disorders, including neurodegenerative diseases, will double over the next two decades. Unfortunately, while available therapies provide symptomatic relief for cognitive and motor impairment, there is an urgent unmet need to develop disease-modifying therapies that slow the rate of pathological progression. In that context, biomarkers could identify at-risk and prodromal patients, monitor disease pr…

Advances in Alzheimer's Disease Biomarkers.

Alzheimer's disease (AD) is a neurodegenerative condition characterized by gradual onset and complex pathological mechanisms. Clinically, it presents with progressive cognitive decline and behavioral impairments, making it one of the most common causes of dementia. The intricacies of its pathogenesis are not fully understood, and current treatment options are limited, with diagnosis typically occurring at intermediate to advanced stages. The development of new biomarkers offers a crucial avenue for the early diagnosis of AD and improving patient outcomes. Several biomarkers with high specifici…

Molecular Biomarkers Affecting Moyamoya Disease.

Although the pathogenetic pathway of moyamoya disease (MMD) remains unknown, studies have indicated that variations in the RING finger prote … y also play critical roles in producing this disease. Identification of these circulating molecules biomarkers may be used for the early detection of this disease. In this chapter, how the hypothesized pathophysiology of these factors affect MMD and the interactive modulation between them are summarized.

Ovarian cancer extracellular vesicle biomarkers.

Ovarian cancer (OC) remains a significant women's health concern due to its high mortality rate and the challenges posed by late detection. Exploring novel biomarkers could lead to earlier, more specific diagnoses and improved survival rates for OC patients. This review focuses on biomarkers associated with extracellular vesicles (EVs) found in various proximal fluids, including urine, ascites, utero-tubal lavage fluid of OC patients. We highlight these proximal fluids as rich sources of potential biomarkers. The review explains the roles of EV biomarkers in ovarian cancer progression and disc…

Biomarkers in acute kidney injury.

Acute kidney injury (AKI) is a multifactorial syndrome with a high risk of short- and long-term complications as well as increased health care costs. The traditional biomarkers of AKI, serum creatinine and urine output, have important limitations. The discovery of new functional and damage/stress biomarkers has enabled a more precise delineation of the aetiology, pathophysiology, site, mechanisms, and severity of injury. This has allowed earlier diagnosis, better prognostication, and the identification of AKI sub-phenotypes. In this review, we summarize the roles and challenges of these new bi…

Multiomic biomarkers after cardiac arrest.

Cardiac arrest is a sudden cessation of heart function, leading to an abrupt loss of blood flow and oxygen to vital organs. This life-threatening emergency requires immediate medical intervention and can lead to severe neurological injury or death. Methods and biomarkers to predict neurological outcome are available but lack accuracy. Such methods would allow personalizing healthcare and help clinical decisions. Extensive research has been conducted to identify prognostic omic biomarkers of cardiac arrest. With the emergence of technologies allowing to combine different levels of omics data, a…

Noninvasive biomarkers for lupus nephritis.

Lupus nephritis (LN) is one of the most severe clinical manifestations of systemic lupus erythematosus (SLE). Notably, the clinical manifestations of LN are not always consistent with the histopathological findings. Therefore, the diagnosis and activity monitoring of this disease are challenging and largely depend on invasive renal biopsy. Renal biopsy has side effects and is associated with the risk of bleeding and infection. There is a growing interest in the development of novel noninvasive biomarkers for LN. In this review, we summarize most of the LN biomarkers discovered so far by correl…

Novel Biomarkers of Bone Metabolism.

Bone represents a metabolically active tissue subject to continuous remodeling orchestrated by the dynamic interplay between osteoblasts and … hways between the two processes. Certain molecules emerging from these shared pathways can serve as biomarkers for bone and mineral metabolism. Detecting and evaluating these alterations early is crucial, requiring the identification of biomarkers that are reliable for early intervention. While traditional biomarkers for bone remodeling and vascular calcific …

Fluid Biomarkers in Dementia Diagnosis.

OBJECTIVE: This article familiarizes neurologists with the currently available CSF and plasma biomarkers for the diagnosis of dementia and diagnosis-dependent treatment decisions. LATEST DEVELOPMENTS: For Alzheimer disease, the recent US Food and Drug Administration (FDA) approval of monoclonal antibody therapy has increased the urgency of confirming the pathologic diagnosis with biomarkers before initiating therapy. The new availability of disease-modifying therapies also highlights the need for biomarkers to monitor efficacy over time. Both of these needs have been partially addressed by th…

Белые мозги повреждают биомаркеры.

Белая материя (WM), представляющая почти половину массы человеческого мозга, имеет решающее значение для быстрой передачи нейронных сигналов по различным областям мозга, оказывая значительное влияние на когнитивные процессы, такие как обучение, память и решение проблем. Целостность WM необходима для функции мозга, и его повреждение, которое может быть вызвано такими заболеваниями, как множественный склероз (MS), инсульт и травма мозга, приводит к серьезным неврологическим расстройствам и когнитивному упадку. Главная цель этой книги состоит в том, чтобы обсудить клиническое значение жидких биом

Совпадение в аннотации оригинала
White matter (WM), constituting nearly half of the human brain's mass, is pivotal for the rapid transmission of neural signals across differ … ecline. The primary objective of this book chapter is to discuss the clinical significance of fluid biomarkers in assessing WM damage within the central nervous system (CNS). It explores the biological underpinnings and pathological changes in WM due to various neurological conditions and details how alterations can be detected and quantified through fluid b …

Imaging biomarkers of leukaemic choroidopathy.

PURPOSE: To longitudinally investigate choroidal and choriocapillaris perfusion metrics and the number of choroidal hyperreflective foci (HRF) in patients with acute leukaemia (AL) before and after disease remission and to correlate these metrics with systemic parameters during active disease. METHODS: Prospective, longitudinal study of 26 eyes of 14 AL patients. All patients underwent optical coherence tomography (OCT) and OCT-angiography (OCTA) in the acute phase. Subfoveal choroidal thickness (CT), total, luminal and stromal choroidal area (TCA, LCA, SCA), choroidal vascularity index (CVI)

Serological Biomarkers of Chronic Migraine.

PURPOSE OF REVIEW: Chronic migraine (CM) is a chronic form of migraine that differs from episodic migraine (EM) in terms of prevalence, comorbidities, response to treatment, and biomarkers. The aim of this review was to summarize the recent findings on serological biomarkers of CM. RECENT FINDINGS: Neuronal, inflammatory, and vascular markers have been investigated to assess their diagnostic and prognostic ability and treatment effectiveness. Several markers showed significant alterations according to disease status and treatment response in CM. Calcitonin gene-related peptide (CGRP), glutama…

Saliva biomarkers in oral disease.

Saliva is a versatile biofluid that contains a wide variety of biomarkers reflecting both physiologic and pathophysiologic states. Saliva collection is noninvasive and highly applicable for tests requiring serial sampling. Furthermore, advances in test accuracy, sensitivity and precision for saliva has improved diagnostic performance as well as the identification of novel markers especially in oral disease processes. These include dental caries, periodontitis, oral squamous cell carcinoma (OSCC) and Sjögren's syndrome (SS). Numerous growth factors, enzymes, interleukins and cytokines have been…