Biomarker Insights

The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time. Changes in biomarkers provide insight into disease progression and may reveal biologic, physiologic, or pharmacologic phenomena occurring prior to clinical detection. Efforts to identify biomarkers for SMA, a genetic motor neuron disease characterized by motor neuron degeneration and weakness, have culminated in a number of putative molecular and physiologic markers that evaluate biological media (eg, blood and cerebrospinal fluid [CSF]) or nervous system function. Such biomarkers include SMN2 copy number, SMN mRNA and protein levels, neurofilament proteins (NFs), plasma protein analytes, creatine kinase (CK) and creatinine (Crn), and various electrophysiology and imaging measures. SMN2 copy number inversely correlates with disease severity and is the best predictor of clinical outcome in untreated individuals. SMN mRNA and protein are commonly measured in the blood or CSF of patients receiving SMA therapies, particularly those aimed at increasing SMN protein expression, and provide insight into current disease state. NFs have proven to be robust prognostic, disease progression, and pharmacodynamic markers for SMA infants undergoing treatment, but less so for adolescents and adults. Select plasma proteins are altered in SMA individuals and may track response to therapy. CK and Crn from blood correlate with motor function and disease severity status and are useful for predicting which individuals will respond to therapy. Electrophysiology measures comprise the most reliable means for monitoring motor function throughout disease course and are sensitive enough to detect neuromuscular changes before overt clinical manifestation, making them robust predictive and pharmacodynamic biomarkers. Finally, magnetic resonance imaging and muscle ultrasonography are non-invasive techniques for studying muscle structure and physiology and are useful diagnostic tools, but cannot reliably track disease progression. Importantly, biomarkers can provide information about the underlying mechanisms of disease as well as reveal subclinical disease progression, allowing for more appropriate timing and dosing of therapy for individuals with SMA. Recent therapeutic advancements in SMA have shown promising results, though there is still a great need to identify and understand the impact of biomarkers in modulating disease onset and progression.

Megan G Pino

Kelly A Rich

Stephen J Kolb

Biomark�Insights

Update on Biomarkers in Spinal Muscular Atrophy

脊髓性肌萎缩症生物标志物的最新进展

Damage to hair follicles following exposure to toxic chemotherapeutics can cause substantial hair loss, commonly known as chemotherapy-induced alopecia (CIA). Preventive therapies remain limited; however, recent advances in the use of scalp cooling technologies have proved successful in preventing or reducing hair loss in some patients. Further improvements in scalp cooling efficacy and/or development of novel treatments to prevent chemotherapy-induced hair loss are required. To achieve this, post-chemotherapy assessment of hair follicle damage markers, with and without scalp cooling, would provide invaluable mechanistic and prognostic information. At present, the availability of such data is extremely limited. This article describes the potential utility of a combination of biomarkers in assessing drug-induced alopecia and the protective potential of existing or new treatments. A greater understanding of the precise mechanisms of anti-CIA therapies through biomarker analysis would enhance the rationale, use, and development of such treatments.

Iain S Haslam

Eleanor Smart

Chemotherapy-Induced Hair Loss: The Use of Biomarkers for Predicting Alopecic Severity and Treatment Efficacy

化疗引起的脱发：利用生物标志物预测脱发严重程度及治疗效果

Background: Rheumatoid arthritis (RA) is complicated with interstitial lung disease (ILD). Gastroesophageal reflux disease is prevented by Helicobacter pylori infection and is a predisposing factor for idiopathic pulmonary fibrosis. However, the prevalence of H. pylori infection in RA patients with ILD has not been sufficiently investigated. Objective: In this study, we analyzed anti- H. pylori antibodies in RA patients with ILD. Design: Case-control observational study Methods: Anti- H. pylori antibodies were analyzed in the sera of RA patients using a commercially available enzyme-linked immunosorbent assay kit. Results: The positivity of anti- H. pylori antibodies in RA with ILD ( n = 30 [18.0%], P = .0227), usual interstitial pneumonia ( n = 10 [14.3%], P = .0212), and airway disease ( n = 30 [18.0%], P = .0227) was significantly lower than that of RA without chronic lung disease ( n = 78 [27.5%]). The positivity of anti- H. pylori antibodies was also lower in RA with chronic lung disease ( n = 68 [18.2%], P = .0059). Multiple logistic regression analyses showed that the presence of anti- H. pylori antibodies was independently and protectively associated with chronic lung disease in RA. Conclusion: The seroprevalence of H. pylori was lower in RA with ILD. H. pylori infection prevented ILD in patients with RA by protecting them from gastroesophageal reflux disease.

Shomi Oka

Takashi Higuchi

Hiroshi Furukawa

Kota Shimada

Akira Okamoto

Misuzu Fujimori

Atsushi Hashimoto

Akiko Komiya

Koichiro Saisho

Norie Yoshikawa

Masao Katayama

Toshihiro Matsui

Naoshi Fukui

Kiyoshi Migita

Shigeto Tohma

<i>Helicobacter pylori</i> Seroprevalence in Rheumatoid Arthritis Patients with Interstitial Lung Disease

类风湿性关节炎合并间质性肺病患者中<i>幽门螺杆菌</i>的血清流行率

Despite infection and sepsis being a major public health challenge, early detection and timely management are often hindered by several factors. These includes the similarity of clinical presentations between infectious and non-infectious conditisons, as well as limitations of current diagnostic methods such as lengthy turnaround times and low sensitivity. Consequently, there is increasing interest in identifying biomarkers that can quickly and accurately differentiate bacterial sepsis from other inflammatory processes, whether infectious or non-infectious. Procalcitonin has emerged as one of the most extensively studied and utilized biomarkers in managing infection and sepsis, especially within the framework of antibiotic stewardship. This review aims to examine the role of Procalcitonin in guiding antibiotic stewardship. It explores the production and release of procalcitonin and its relevance in the context of infection and sepsis. The discussion focus on the clinical and economic impacts of using procalcitonin to guide the initiation and discontinuation of antibiotics in managing these conditions.

Girum Tesfaye Kiya

Elsah Tegene Asefa

Gemeda Abebe

Zeleke Mekonnen

Procalcitonin Guided Antibiotic Stewardship

降钙素原指导的抗生素管理

Background: Acute mesenteric venous thrombosis (MVT) is rarely suspected as primary diagnosis in emergency departments and still carries an in-hospital mortality rate of above 20%. Objectives: The aim of this study was to find differences in clinical and laboratory markers between patients with acute MVT and a control group of suspected but confirmed as not having any type of acute mesenteric ischaemia (AMI). Design: Data was retrieved from the AMESI (Acute MESenteric Ischaemia) study. This international, multicenter prospective case-control study from 32 sites collected data on patients with suspected AMI during a 10-month period. Methods: Independent factors associated with acute MVT were evaluated in a multivariable logistic regression analysis and expressed as odds ratios (OR) with 95% confidence intervals (CI). Results: D-dimer was not significantly higher in MVT (n = 73) compared to non-AMI (n = 287) patients (median 7.0 mg/L vs 4.5 mg/L, P = .092). After entering BMI, atherosclerotic disease, history of venous thromboembolism, CRP, and D-dimer as covariates in a multi-variable logistic regression analysis, absence of atherosclerotic disease (OR 0.096, 95% CI 0.011-0.84; P = .034) and elevated D-dimer (OR 2.59/one SD increment, 95% CI 1.07-6.28; P = .034) were associated with MVT. The discriminative ability of D-dimer for MVT as assessed by area under the curve in the receiver operating characteristics analysis was 0.63 (95% CI 0.49-0.78). Conclusion: Elevated D-dimer was associated with MVT, but the discriminative ability of D-dimer was poor. There is an urgent need to find a more accurate plasma biomarker for this condition. TRIAL REGISTRATION: NCT05218863 (registered 19.01.2022).

Stefan Acosta

Annika Reintam Blaser

Alexandre Nuzzo

Yasmin Soltanzadeh-Naderi

Joel Starkopf

Alastair Forbes

Marko Murruste

Kadri Tamme

Anna-Liisa Voomets

Merli Koitmäe

Miklosh Bala

Zsolt Bodnar

Dumitru Casian

Zaza Demetrashvili

Alan Biloslavo

Virginia Dúran Muñoz-Cruzado

Benjamin Hess

Karri Kase

Mikhail Kirov

Matthias Lindner

Cecilia I Loudet

Dimitrios Damaskos

Martin Björck

D-Dimer in Acute Mesenteric Venous Thrombosis: A Prospective Case-Control International Multicenter Study

急性肠系膜静脉血栓形成中的D-二聚体：一项前瞻性病例对照国际多中心研究

Bladder cancer is one of the most frequently diagnosed cancers in men. While cystectomy remains the primary treatment, advances in radiotherapy and chemotherapy have highlighted the value of bladder-preserving strategies, which can also enhance patients’ quality of life. Despise these advances, around 20% of patients may still require salvage cystectomy due to tumor radioresistance. This underscores the need to develop radiosensitivity predictive assays. Radiotherapy acts by inducing DNA damage, primarily through DNA double-strand breaks, which can significantly affect treatment outcomes if left unrepaired. In addition to activating DNA repair pathways, the response to radiation also involves the tumor microenvironment, cell death pathways, immune responses and different types of cell death and proliferation receptors. In recent years, personalized medicine, which tailors treatments to individual patients, has gained increasing attention in cancer care. The development of chemo- and radiosensitivity predictive assays has become a key focus of cancer research. Despite the potential impact of such assays on bladder cancer treatment, there is still no reliable test that can help clinicians and informs patients in choosing the best treatment. This review aims to highlight studies that attempted to characterize bladder cancer radiosensitivity and to discuss the potential biomarkers that could be used to develop bladder cancer radiosensitivity predictive assays.

Charbel Feghaly

Rafka Challita

Hanine Bou Hadir

Tala Mobayed

Tarek Al Bitar

Mohammad Harbi

Hala Ghorayeb

Rana El-Hassan

Larry Bodgi

Bladder Cancer Treatments in the Age of Personalized Medicine: A Comprehensive Review of Potential Radiosensitivity Biomarkers

个性化医学时代膀胱癌治疗：潜在放射敏感性生物标志物的综合综述

Background: ATP7B (ATPase copper transporting beta gene) is constituted of 21 exons, and codes for a 1465 amino acid. The protein of ATP7B plays an key role of copper metabolism. Many previous reports indicated that mutations in ATP7B are well known to cause defective copper transporting copper-transporting ATPase 2 protein leading to the accumulation of copper, resulting the Wilson disease. Objectives: The meta-analysis was performed to comprehensive gain a thorough grasp of the spectrum of genetic variations. Design: A meta-analysis was conducted according to the guiding of PRISMA. aiming to assess the diversity and frequency of mutations in the ATP7B gene, with an emphasis on mutations located within specific exons. Data sources and methods: The dataset of detected mutations within their positions, types as well as nomenclature, were recorded from previous studies (spanning the year from 2013 to 2023). The analysis focused on exon-specific variations and their prevalence across different populations. Results: A total of 40 studies were enrolled into current data analysis. Our comprehensive study revealed a variety of mutations, most notably over 50% of single nucleotide changes described, distributed over the 21 exons of the gene. Focusing on the exon 8, itisplayed the most diversity of mutations, with 18 studies identifying 53 unique variants, the majority of which were missense mutations (81.13%). Additionally, the variations c.2333G&gt;A/T (p.R778Q/L), c.2305A&gt;G (p.M769V), c.2336G&gt;A (p.W779*), and c.2304dupC (p.M769HfsX26) are reported in many populations. The weighted mean of variants’ proportion was used to calculate the pooled estimate of these percentages, which were 14.19% for c.2333G&gt;A/T (p.R778Q/L), 2.70% for c.2305A&gt;G (p.M769V), 1.42% for c.2336G&gt;A (p.W779*), and 2.33% for c.2304dupC (p.M769HfsX26). Conclusion: This design demonstrate to identify the spectrum of ATP7B gene’s mutations, especially exon 8, offering important insights into the prevalence and significance of exon 8 mutations. Understanding the mutation in the ATP7B gene offers insights into the mechanisms behind WD and guides strategies for diagnosis and treatment.

Thuan Duc Lao

Thuy Ai Huyen Le

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease

ATP7B突变谱及与威尔逊病相关的种族差异的系统分析与见解

Abbreviation	Biomark�Insights
Journal Impact	3.40
Quartiles(Global)	MEDICINE, RESEARCH & EXPERIMENTAL(Q2)

ISSN	1177-2719
h-index	40

Publication Information	Publisher: Libertas Academica Ltd.，Publishing cycle: ，Journal Type: journal，Open Access Journals: Yes
Basic data	Year of publication: 2006，Proportion of original research papers: 75.00%，Self Citation Rate:0.00%， Gold OA Rate: 90.74%
Journal Fees	$2650Details
Average review cycle	网友分享经验：8 Weeks

Biomarker Insights

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Update on Biomarkers in Spinal Muscular Atrophy

Chemotherapy-Induced Hair Loss: The Use of Biomarkers for Predicting Alopecic Severity and Treatment Efficacy

Helicobacter pylori Seroprevalence in Rheumatoid Arthritis Patients with Interstitial Lung Disease

Procalcitonin Guided Antibiotic Stewardship

D-Dimer in Acute Mesenteric Venous Thrombosis: A Prospective Case-Control International Multicenter Study

Helicobacter pylori Seroprevalence in Rheumatoid Arthritis Patients with Interstitial Lung Disease

Procalcitonin Guided Antibiotic Stewardship

D-Dimer in Acute Mesenteric Venous Thrombosis: A Prospective Case-Control International Multicenter Study

Bladder Cancer Treatments in the Age of Personalized Medicine: A Comprehensive Review of Potential Radiosensitivity Biomarkers

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease