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Diagnostics
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Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment
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Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment

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

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 18178

Special Issue Editor

Prof. Dr. Anna Lubkowska

E-Mail Website
Guest Editor
Department of Functional Diagnostics and Physical Medicine, Faculty of Health Sciences, Pomeranian Medical University in Szczecin, Żołnierska 54, 71-210 Szczecin, Poland
Interests: metabolic diseases; thermoregulation; adaptive physiology; health and sport; rehabilitation; sports medicine; aging; thermal imaging

Special Issue Information

Dear Colleagues,

Metabolic diseases occur while abnormal biochemical reactions interfere with the body's metabolism. These disturbances can affect the proper breakdown of large molecules for energy, disrupt the efficient production of energy by cells, or cause problems with energy regulation.

The epidemiology of metabolic diseases is very diverse, and their increasing prevalence in the population is becoming problematic. The presence of various genes and their allelic variants responsible for the occurrence of disorders, e.g., at the level of enzymes involved in biochemical transformations or mitochondrial causes of neurodegenerative and myopathic disorders, makes research on metabolic diseases difficult both in terms of diagnostics and monitoring the effects of treatment. The wide variety of symptoms of these disorders also creates issues and extends the diagnostic process.

The increased risk of metabolic diseases is related to the occurrence of disorders of the nutritional state and unfavorable progressive changes in body composition. When analyzing metabolic diseases, new biomedical technologies using the basics of bioengineering, biotechnological, microbiological, and genetic sciences are a useful tool.

Modeling of human disease has been shown to be possible, inter alia, by the use of human pluripotent stem cells (hPSCs) in in vitro studies. Currently, increasing attention is also being paid to genome editing tools, thanks to which cells can be genetically modified, allowing for a detailed assessment of the genetic basis of certain diseases—including metabolic syndromes. However, therapy of metabolic diseases is difficult due to the inability to eliminate their causes, and treatment is mainly based on relieving the symptoms and slowing down the disease. Therapeutic management may include physical therapy, supplementation, dietary management, and symptomatic treatment.

This Special Issue will publish advancements and current trends in metabolic disease diagnosis, tools, and treatment. Research and review articles on the presented and related topics are appropriate for this special edition of Diagnostics.

Prof. Dr. Anna Lubkowska
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 disease: diagnostic tools, treatments
  • health risk
  • obesity and metabolic disorders
  • disease modeling
  • genetics
  • mitochondrial diseases
  • inherited metabolic disorders
  • lysosomal storage disorders
  • biochemical balance and metabolism
  • enzymes
  • chemistry screen
  • newborn screening

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Published Papers (6 papers)

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Research

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18 pages, 2363 KiB  
Article
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study
by Mohamed El Sayed, Pieter G. Postema, Mareen Datema, Laura van Dussen, Jan A. Kors, Cato C. ter Haar, Hidde Bleijendaal, Henrike Galenkamp, Bert-Jan H. van den Born, Carla E. M. Hollak and Mirjam Langeveld
Diagnostics 2023, 13(3), 354; https://doi.org/10.3390/diagnostics13030354 - 18 Jan 2023
Cited by 3 | Viewed by 2607
Abstract
Background: Fabry disease (FD) is an X-linked, lysosomal storage disorder leading to severe cardiomyopathy in a significant proportion of patients. To identify ECG markers that reflect early cardiac involvement and disease progression, we conducted a long term retrospective study in a large cohort [...] Read more.
Background: Fabry disease (FD) is an X-linked, lysosomal storage disorder leading to severe cardiomyopathy in a significant proportion of patients. To identify ECG markers that reflect early cardiac involvement and disease progression, we conducted a long term retrospective study in a large cohort of FD patients. Methods: A total of 1995 ECGs from 133 patients with classical FD (64% females, 80% treated with enzyme replacement therapy), spanning 20 years of follow-up, were compared to ECGs from 3893 apparently healthy individuals. Generalized linear mixed models were used to evaluate the effect of age, FD and sex on: P-wave duration, PR-interval, QRS-duration, QTc, Cornell index, spatial QRS-T angle and frontal QRS-axis. Regression slopes and absolute values for each parameter were compared between FD patients and control subjects. Results: At a younger age (<40 years), the Cornell index was higher and frontal QRS-axis more negative in FD patients compared to controls (p < 0.05). For the other ECG parameters, the rate of change, more than the absolute value, was greater in FD patients compared to controls (p < 0.05). From the fifth decade (men) or sixth (women) onwards, absolute values for P-wave duration, QRS-duration, QTc and spatial QRS-T angle were longer and higher in FD patients compared to control subjects. Conclusions: ECG abnormalities indicative of FD are age and sex dependent. Tracking the rate of change in ECG parameters could be a good way to detect disease progression, guiding treatment initiation. Moreover, monitoring ECG changes in FD can be used to evaluate the effectiveness of treatment. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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11 pages, 772 KiB  
Article
Association of Handgrip Strength with Diabetes Mellitus in Korean Adults According to Sex
by Sung-Bum Lee, Ji-Eun Moon and Jong-Koo Kim
Diagnostics 2022, 12(8), 1874; https://doi.org/10.3390/diagnostics12081874 - 2 Aug 2022
Cited by 4 | Viewed by 1901
Abstract
Diabetes mellitus (DM) is known to lead to many diseases such as cardiovascular disease and chronic kidney diseases. Therefore, it is essential to find diagnostic tools to prevent DM. This study aimed to find the association between handgrip strength and the prevalence of [...] Read more.
Diabetes mellitus (DM) is known to lead to many diseases such as cardiovascular disease and chronic kidney diseases. Therefore, it is essential to find diagnostic tools to prevent DM. This study aimed to find the association between handgrip strength and the prevalence of diabetes mellitus (DM) in Korean adults with respect to sex and menopause. A total of 26,536 participants (12,247 men, 6977 premenopausal women, and 7312 postmenopausal women) aged >19 years were recruited. The study population was divided into quartiles of relative handgrip strength. Logistic regression was used to analyse the association between relative handgrip strength and the prevalence of DM. Compared with the lowest quartile, the odds ratio (95% confidence interval (CI)) the prevalence of DM for the fourth quartile (Q4) was 0.57 (0.43–0.75) after adjusting for confounding factors in men; 0.33 (0.14–0.75), premenopausal women; and 0.82 (0.63–1.07), postmenopausal women. The prevalence of DM decreased as relative handgrip strength increased. This inverse association was more significant in men and premenopausal women than that in postmenopausal women. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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12 pages, 1204 KiB  
Article
Effective Prevention and Management Tools for Metabolic Syndrome Based on Digital Health-Based Lifestyle Interventions Using Healthcare Devices
by Jung-Hun Lee, Kang-Hyun Lee, Hee-Jin Kim, Hyun Youk and Hee-Young Lee
Diagnostics 2022, 12(7), 1730; https://doi.org/10.3390/diagnostics12071730 - 16 Jul 2022
Cited by 8 | Viewed by 3338
Abstract
Digital health-based lifestyle interventions (e.g., mobile applications, short messaging service, wearable devices, social media, and interactive websites) are widely used to manage metabolic syndrome (MetS). This study aimed to confirm the utility of self-care for prevention or management of MetS. We recruited 106 [...] Read more.
Digital health-based lifestyle interventions (e.g., mobile applications, short messaging service, wearable devices, social media, and interactive websites) are widely used to manage metabolic syndrome (MetS). This study aimed to confirm the utility of self-care for prevention or management of MetS. We recruited 106 participants with one or more MetS risk factors from December 2019 to September 2020. Participants were provided five healthcare devices and applications. Characteristics were compared at baseline and follow-up to examine changes in risk factors, engagement, persistence, and physical activity (analyzed through device use frequency and lifestyle interventions performed). Participants with 1–2 MetS risk factors showed statistically significant reductions in waist circumference (WC) and blood pressure (BP). Participants with ≥3 MetS risk factors showed statistically significant reductions in risk factors including weight, body mass index, WC, BP, and fasting blood sugar (FBS). The prevention and improvement groups used more healthcare devices than the other groups. Smartwatch was the most frequently used device (5 times/week), and physical activity logged more than 7000 steps/week. WC, BP, and FBS of the improvement group were reduced by more than 40%. Based on engagement, persistence, and physical activity, digital health-based lifestyle interventions could be helpful for MetS prevention and management. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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Review

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13 pages, 1083 KiB  
Review
Link between Insulin Resistance and Obesity—From Diagnosis to Treatment
by Jakub Gołacki, Małgorzata Matuszek and Beata Matyjaszek-Matuszek
Diagnostics 2022, 12(7), 1681; https://doi.org/10.3390/diagnostics12071681 - 10 Jul 2022
Cited by 18 | Viewed by 4831
Abstract
Insulin resistance (IR) has become a common health issue in medical practice. There are no detailed data on IR prevalence, but it is an increasing problem due to its close association with obesity. However, IR is not considered as a separate nosological entity [...] Read more.
Insulin resistance (IR) has become a common health issue in medical practice. There are no detailed data on IR prevalence, but it is an increasing problem due to its close association with obesity. However, IR is not considered as a separate nosological entity and the diagnostic criteria are not well defined, which leads to overdiagnosis of IR and an inappropriate approach. This review aims to summarize the available literature on IR pathophysiology, its relationship with obesity, as well as diagnostic methods, clinical presentation and treatment. Excessive energy intake results in cell overload that triggers mechanisms to protect cells from further energy accumulation by reducing insulin sensitivity. Additionally, hypertrophied adipocytes and macrophage infiltration causes local inflammation that may result in general inflammation that induces IR. The clinical picture varies from skin lesions (e.g., acanthosis nigricans) to metabolic disorders such as diabetes mellitus or metabolic-associated fatty liver disease. There are numerous IR laboratory markers with varying sensitivities and specificities. Nutrition changes and regular physical activity are crucial for IR management because a reduction in adipose tissue may reverse the inflammatory state and consequently reduce the severity of insulin resistance. In cases of obesity, anti-obesity medications can be used. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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Other

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20 pages, 664 KiB  
Systematic Review
The Significance of Dual-Energy X-ray Absorptiometry (DXA) Examination in Cushing’s Syndrome—A Systematic Review
by Aleksandra Radecka and Anna Lubkowska
Diagnostics 2023, 13(9), 1576; https://doi.org/10.3390/diagnostics13091576 - 28 Apr 2023
Cited by 5 | Viewed by 2374
Abstract
In recent years, the usefulness of dual-energy X-ray absorptiometry (DXA) as a valuable complementary method of assessing the content and distribution of adipose and lean tissue as well as bone mineral density and estimating the risk of fractures has been increasingly confirmed. The [...] Read more.
In recent years, the usefulness of dual-energy X-ray absorptiometry (DXA) as a valuable complementary method of assessing the content and distribution of adipose and lean tissue as well as bone mineral density and estimating the risk of fractures has been increasingly confirmed. The diagnosis and treatment of Cushing’s syndrome remain challenging, and monitoring the effects of treatment is often necessary. DXA tests offer a potential solution to many problems related to the availability of a quick, detailed, and reliable analysis of changes in the content and distribution of individual body composition components. The article discusses total body DXA scans (FMI, VAT, ALMI), lumbar spine scans (VFA, TBS), and osteoporosis scans (BMD, T-score, Z-score)—all are of potential interest in Cushing’s syndrome. The article discusses the use of the most important indicators obtained from a DXA test (FMI, VAT, ALMI, BMD, T-score, Z-score, VFA, TBS) and their clinical significance in Cushing’s syndrome was verified. The literature from the last decade was used for the study, available in MEDLINE, Web of Science, and ScienceDirect. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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6 pages, 2053 KiB  
Interesting Images
Ultrasound-Guided Radiofrequency Ablation for Primary Hyperparathyroidism Induced by Multiple Endocrine Neoplasia 1—A Case Report
by Zhenping Han, Tingting Li, Siyi Wang, Li Gao, Ying Hu, Yu Zhao and Jieping Yan
Diagnostics 2022, 12(10), 2553; https://doi.org/10.3390/diagnostics12102553 - 20 Oct 2022
Cited by 2 | Viewed by 1545
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by the occurrence of two or more endocrine gland tumors. Here, we show a case of a 52-year-old man diagnosed with MEN1 through gastrinoma, parathyroid adenoma and gene detection. The MEN1 patient’s case [...] Read more.
Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by the occurrence of two or more endocrine gland tumors. Here, we show a case of a 52-year-old man diagnosed with MEN1 through gastrinoma, parathyroid adenoma and gene detection. The MEN1 patient’s case was complicated with relapsed primary hyperparathyroidism (PHPT), and they received ultrasound-guided radiofrequency ablation (RFA). The patient had a remarkable recovery after RFA treatment for the relapsed PHPT. It might be an alternative treatment for MEN1 patients with poor conditions such as high surgical risk, unwillingness to choose parathyroid surgery or those unable to tolerate surgery. Individualized therapy significantly benefits the prognosis of MEN1 patients. Full article
(This article belongs to the Special Issue Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment)
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