Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
4.7
3.0
Journals
Diagnostics
Special Issues
Diagnosis, Biomarkers, and Treatment of Metabolic Disorders
share announcement

Diagnosis, Biomarkers, and Treatment of Metabolic Disorders

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 10989

Special Issue Editor

Dr. Elena-Raluca Nicoli

E-Mail Website
Guest Editor
Independent Researcher, Bucharest, Romania
Interests: lysosomal storage diseases; neurodegenerative diseases; genomics; genetic engineering; cancer biomarkers; metabolism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Diagnosis, Biomarkers, and Treatment of Metabolic Disorders is a Special Issue published in the Journal Diagnostics (ISSN 2075-4418) which is an international scholarly open-access journal. It publishes original research articles and comprehensive reviews, and there is no restriction on the maximum length of the papers. Our aim is to encourage healthcare professionals and scientists to publish their experimental, theoretical, and original research related to any aspects of metabolic diseases in humans or animal models in as much detail as possible. Full experimental and/or methodological details must be provided for research articles. This includes clinical, experimental, genetic, biochemical, methodological, theoretical, ethical, and counseling aspects.

The scope of this Special Issue includes as follows:

  • Metabolic diseases;
  • Treatment and therapies of metabolic diseases;
  • Diagnosis of metabolic diseases;
  • Biomarkers of metabolic diseases;
  • Inherited metabolic diseases;
  • Inborn errors of metabolism;
  • Neurodegeneration in metabolic diseases;
  • Lysosomal storage diseases;
  • Pathogenesis of metabolic diseases;
  • Artificial intelligence and machine learning in inherited metabolic diseases;
  • Functional genomics of metabolic diseases.

Welcome to submit your related work to the Special Issue.

Dr. Elena-Raluca Nicoli
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • metabolic disorders
  • diagnosis
  • treatment
  • biomarkers

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (5 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

13 pages, 708 KiB  
Article
Health and Liver Diagnostic Markers Influencing Glycemia in Subjects with Prediabetes: Preview Study
by Omar Ramos-Lopez, Diego Martinez-Urbistondo, Santiago Navas-Carretero, Ruixin Zhu, Maija Huttunen-Lenz, Gareth Stratton, Teodora Handjieva-Darlenska, Svetoslav Handjiev, Jouko Ensio Sundvall, Marta P. Silvestre, Elli Jalo, Kirsi H. Pietiläinen, Tanja C. Adam, Margriet Westerterp-Plantenga, Elizabeth Simpson, Ian MacDonald, Moira A. Taylor, Sally D. Poppitt, Wolfgang Schlicht, Jennie Brand-Miller, Mikael Fogelholm, Anne Raben and J. Alfredo Martinezadd Show full author list remove Hide full author list
Diagnostics 2024, 14(24), 2895; https://doi.org/10.3390/diagnostics14242895 - 23 Dec 2024
Viewed by 920
Abstract
Introduction: Glucose homeostasis may be dependent on liver conditions and influence health-related markers and quality of life (QoL) objective measurements. This study aimed to analyze the interactions of glycemia with liver and health status in a prediabetic population. Subjects and methods: This study [...] Read more.
Introduction: Glucose homeostasis may be dependent on liver conditions and influence health-related markers and quality of life (QoL) objective measurements. This study aimed to analyze the interactions of glycemia with liver and health status in a prediabetic population. Subjects and methods: This study included 2220 overweight/obese prediabetics from the multinational PREVIEW project. Anthropometrics; clinical, metabolic and other health-related markers; and QoL variables were analyzed. Univariate and multilinear-adjusted regression models were run to explain the interrelationships and effect modification between glycemia, health-related QoL (applying SF-12) and metabolic/liver health (using the HSI, a putative marker of fatty liver). Results: Relevant age/sex interactions were found concerning the levels of insulin, HOMA-IR, C peptide and transaminases in this prediabetic population. Multivariate models identified age, sex, glucose, WC and QoL as important predictors of HSI variability (adj. R value = 0.1393, p < 0.001), whereas the QoL status was statistically related to age, sex, HOMA-IR and HSI (adj. R value = 0.1130, p < 0.001) in this glycemia-impaired group. Furthermore, the QoL values declined with increased HSI scores, where a significant interaction was found (p = 0.011) when the data were analyzed when comparing lower glycemia vs. higher glycemia in prediabetics. Indeed, an effect modification was featured depending on the glycemia levels concerning the QoL and HSI worsening. Conclusion: Glycemia associations with the QoL status and liver metabolism markers were evidenced, with clinical implications for diabetes and liver disease precision management given the modification of the QoL outcomes depending on the liver status and glycemia concentrations. Notably, independent associations of circulating glucose with age, sex, adiposity, inflammation and C peptide levels were found. Full article
(This article belongs to the Special Issue Diagnosis, Biomarkers, and Treatment of Metabolic Disorders)
►▼ Show Figures

Figure 1

11 pages, 1516 KiB  
Article
Glucose and Lipid Metabolism Disorders in Adults with Spinal Muscular Atrophy Type 3
by Marija Miletić, Zorica Stević, Svetlana Vujović, Jelena Rakočević, Ana Tomić, Milina Tančić Gajić, Miloš Stojanović, Aleksa Palibrk and Miloš Žarković
Diagnostics 2024, 14(18), 2078; https://doi.org/10.3390/diagnostics14182078 - 19 Sep 2024
Cited by 4 | Viewed by 1711
Abstract
Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there is increasing evidence of metabolic abnormalities in SMA patients, such as altered fatty acid metabolism, impaired [...] Read more.
Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there is increasing evidence of metabolic abnormalities in SMA patients, such as altered fatty acid metabolism, impaired glucose tolerance, and defects in the functioning of muscle mitochondria. Given that data in the literature are scarce regarding this subject, the purpose of this study was to estimate the prevalence of glucose and lipid metabolism disorders in adult patients with SMA type 3. Methods: We conducted a cross-sectional study of 23 adult patients with SMA type 3 who underwent a comprehensive evaluation, including a physical examination, biochemical analysis, and an oral glucose tolerance test during 2020–2023. Results: At least one lipid abnormality was observed in 60.8% of patients. All four lipid parameters were atypical in 4.3% of patients, three lipid parameters were abnormal in 21.7% of patients, and two lipid parameters were altered in 8.7% patients. A total of 91.3% of SMA3 patients met the HOMA-IR criteria for insulin resistance, with 30.43% having impaired glucose tolerance. None of the patients met the criteria for a diagnosis of overt DM2. Conclusions: The prevalence of dyslipidemia and altered glucose metabolism in our study sets apart the adult population with SMA3 from the general population, confirming a significant interplay between muscle, liver, and adipose tissue. Ensuring metabolic care for aging patients with SMA 3 is crucial, as they are vulnerable to metabolic derangements and cardiovascular risks. Full article
(This article belongs to the Special Issue Diagnosis, Biomarkers, and Treatment of Metabolic Disorders)
►▼ Show Figures

Figure 1

13 pages, 925 KiB  
Article
Impact of Obesity on Target Organ Damage in Patients with Metabolic Syndrome
by Svetlana Kostić, Ivan Tasić, Nikola Stojanović, Jelena Rakočević, Marina Deljanin Ilić, Dragan Đorđević, Viktor Stoičkov and Isidora Tasić
Diagnostics 2024, 14(14), 1569; https://doi.org/10.3390/diagnostics14141569 - 19 Jul 2024
Cited by 1 | Viewed by 1555
Abstract
Background: Metabolic syndrome (MetSy) is characterized by the presence of obesity, hypertension, altered glucose metabolism, and/or increased non-HDL cholesterol. This study aimed at elucidating the association between obesity with subclinical target organ damage and biochemical parameters included in MetSy pathogenesis. Methods: This study [...] Read more.
Background: Metabolic syndrome (MetSy) is characterized by the presence of obesity, hypertension, altered glucose metabolism, and/or increased non-HDL cholesterol. This study aimed at elucidating the association between obesity with subclinical target organ damage and biochemical parameters included in MetSy pathogenesis. Methods: This study included 130 apparently healthy subjects. Plasma levels of oxidized-LDL-cholesterol (ox-LDL-Chol), nitric oxide (NO) metabolites, inducible NO synthase (iNOS), and plasminogen activator inhibitor-1 (PAI-1) were measured. Non-invasive assessment of liver disease included fatty liver index (FLI) and nonalcoholic fatty liver disease (NAFLD) fibrosis score. Carotid artery plaques were assessed by color Doppler imaging. Results: A total of 65 patients with MetSy were included in the MetSy group, while 65 without MetSy entered the control group. Ox-LDL-Chol levels were higher in the MetSy group compared to the control group, regardless of obesity. Levels of NO metabolites were similar in obese and non-obese patients with MetSy, but lower than in the control group. Obese patients with MetSy had higher iNOS values compared to non-obese ones, with similar PAI-1 levels. NAFLD was present in all obese patients with MetSy compared to 70% of non-obese subjects. Hypertension, higher values of waist-to-hip ratio, PAI-1, and remnant cholesterol were associated with NAFLD. Finding of asymptomatic carotid plaques was associated with patients’ age, hypertension, and higher waist-to-hip ratio. Conclusion: MetSy and obesity significantly alter the levels of NO metabolites, iNOS, ox-LDL-Chol, and PAI-1. High prevalence of NAFLD in obese patients with MetSy requires active screening and treatment of potential risk factors. Full article
(This article belongs to the Special Issue Diagnosis, Biomarkers, and Treatment of Metabolic Disorders)
►▼ Show Figures

Figure 1

12 pages, 2566 KiB  
Article
Diagnostic Accuracy of the Triglyceride–Glucose Index (TyG), TyG Body Mass Index, and TyG Waist Circumference Index for Liver Steatosis Detection
by Alejandra Mijangos-Trejo, Raúl Gómez-Mendoza, Martha Helena Ramos-Ostos, Graciela Castro-Narro, Misael Uribe, Eva Juárez-Hernández and Iván López-Méndez
Diagnostics 2024, 14(7), 762; https://doi.org/10.3390/diagnostics14070762 - 3 Apr 2024
Cited by 5 | Viewed by 2383
Abstract
Background: The triglyceride–glucose index (TyG) and a combination of body mass index (BMI) and waist circumference (WC) have been proposed as predictive scores for liver steatosis (LS). The aim of this study was to determine the diagnostic accuracy of these indices compared with [...] Read more.
Background: The triglyceride–glucose index (TyG) and a combination of body mass index (BMI) and waist circumference (WC) have been proposed as predictive scores for liver steatosis (LS). The aim of this study was to determine the diagnostic accuracy of these indices compared with controlled attenuation parameters (CAPs) and other predictive scores of LS. Methods: A retrospective analysis of patients who attended a check-up unit in 2021 was performed. LS was determined by CAP. Anthropometric and biochemical parameters for calculating TyG, TyG-BMI, TyG-WC, fatty liver index, and hepatic steatosis index were obtained. ROC curve was used to establish the best cut-off point of each TyG index for LS detection. The accuracy was determined for all patients, as well as for overweight and diabetic patients. Results: Medical records of 855 patients with a median age of 48 [IQR, 44–54] years and a BMI of 25.7 [IQR 23.4–28.1] kg/m2 were included. According to CAP, LS prevalence was 31.8% (n = 272). TyG-BMI and TyG-WC show better AUCs compared with CAP (0.82, 0.81), FLI (0.96, both), and HSI (0.93, 0.85). For diabetic patients, TyG-WC shows an AUC of 0.70. Meanwhile, TyG-BMI shows better accuracy (0.75) compared with CAP. Conclusions: TyG-BMI and TyG-WC showed a superior predictive accuracy for detecting LS compared with the TyG index. Full article
(This article belongs to the Special Issue Diagnosis, Biomarkers, and Treatment of Metabolic Disorders)
►▼ Show Figures

Figure 1

Review

Jump to: Research

21 pages, 1370 KiB  
Review
The Interlinking Metabolic Association between Type 2 Diabetes Mellitus and Cancer: Molecular Mechanisms and Therapeutic Insights
by Abutaleb Asiri, Ali Al Qarni and Ahmed Bakillah
Diagnostics 2024, 14(19), 2132; https://doi.org/10.3390/diagnostics14192132 - 25 Sep 2024
Cited by 3 | Viewed by 3634
Abstract
Type 2 diabetes mellitus (T2DM) and cancer share common risk factors including obesity, inflammation, hyperglycemia, and hyperinsulinemia. High insulin levels activate the PI3K/Akt/mTOR signaling pathway promoting cancer cell growth, survival, proliferation, metastasis, and anti-apoptosis. The inhibition of the PI3K/Akt/mTOR signaling pathway for cancer [...] Read more.
Type 2 diabetes mellitus (T2DM) and cancer share common risk factors including obesity, inflammation, hyperglycemia, and hyperinsulinemia. High insulin levels activate the PI3K/Akt/mTOR signaling pathway promoting cancer cell growth, survival, proliferation, metastasis, and anti-apoptosis. The inhibition of the PI3K/Akt/mTOR signaling pathway for cancer remains a promising therapy; however, drug resistance poses a major problem in clinical settings resulting in limited efficacy of agents; thus, combination treatments with therapeutic inhibitors may solve the resistance to such agents. Understanding the metabolic link between diabetes and cancer can assist in improving the therapeutic strategies used for the management of cancer patients with diabetes and vice versa. This review provides an overview of shared molecular mechanisms between diabetes and cancer as well as discusses established and emerging therapeutic anti-cancer agents targeting the PI3K/Akt/mTOR pathway in cancer management. Full article
(This article belongs to the Special Issue Diagnosis, Biomarkers, and Treatment of Metabolic Disorders)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-5
Back to TopTop