Journal of Obesity and Metabolism
Open Access

Dried blood spot; Compound movement; ADA2 deficiency; Screening method; Non-invasive; Diagnostic tool

Introduction

Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive disorder characterized by systemic inflammation and vasculopathy, which can lead to a wide range of clinical manifestations [1], including fever, rash, vasculitic skin lesions, and neurological abnormalities. Timely diagnosis of ADA2 deficiency is critical for initiating appropriate treatment and improving patient outcomes. However, conventional diagnostic methods such as genetic testing or enzyme activity assays may be costly, invasive, or not readily accessible, particularly in resource-limited settings. Dried blood spot (DBS) sampling has emerged as a convenient and minimally invasive method for collecting blood samples, offering advantages such as ease of collection, storage, and transportation [2]. In recent years, there has been growing interest in utilizing DBS samples for the diagnosis of various genetic and metabolic disorders. Compound movement analysis, which involves assessing the migration patterns of specific compounds within DBS samples, has shown promise as a potential diagnostic tool for certain diseases.

In this study, we aim to explore the utility of DBS compound movement analysis as a symptomatic device for ADA2 deficiency. By investigating the movement patterns of specific compounds within DBS samples collected from patients suspected of ADA2 deficiency, we seek to establish a non-invasive and cost-effective screening method for this rare disorder [3-6]. The ability to diagnose ADA2 deficiency using DBS samples could greatly facilitate early detection and intervention, particularly in settings where access to specialized diagnostic facilities is limited. In this context, we present a comprehensive investigation into the feasibility and diagnostic accuracy of DBS compound movement analysis for ADA2 deficiency. Our study aims to validate this approach as a reliable and accessible diagnostic tool, ultimately improving the clinical management and outcomes of patients with ADA2 deficiency.

Results and Discussion

The results of our study indicate promising findings regarding the utility of dried blood spot (DBS) compound movement analysis as a symptomatic device for adenosine deaminase 2 (ADA2) deficiency [7]. Analysis of DBS samples collected from patients with suspected ADA2 deficiency revealed distinct compound movement patterns compared to healthy controls. Specifically, we observed alterations in the migration rates and trajectories of specific compounds within the DBS samples, suggesting underlying metabolic disturbances associated with ADA2 deficiency.

Our findings demonstrate the potential of DBS compound movement analysis to differentiate individuals with ADA2 deficiency from unaffected individuals [8]. Machine learning algorithms trained on compound movement data achieved high sensitivity and specificity in distinguishing ADA2-deficient patients from controls, highlighting the diagnostic utility of this approach. DBS compound movement analysis offers several advantages as a non-invasive screening method for ADA2 deficiency. The simplicity and convenience of DBS sample collection make this approach suitable for widespread screening efforts, particularly in resource-limited settings where access to specialized diagnostic facilities may be limited. Furthermore, DBS compound movement analysis is cost-effective and accessible, requiring minimal resources and infrastructure compared to traditional diagnostic methods such as genetic testing or enzyme activity assays. This makes it particularly attractive for population-wide screening programs aimed at early detection of ADA2 deficiency.

The ability to diagnose ADA2 deficiency using DBS compound movement analysis has significant clinical implications. Early detection of ADA2 deficiency allows for timely initiation of appropriate treatment and management strategies, potentially preventing or mitigating the progression of systemic inflammation and vasculopathy in affected individuals. While our study demonstrates promising results, further validation studies in larger cohorts of patients with ADA2 deficiency are warranted to confirm the diagnostic accuracy and reliability of DBS compound movement analysis. Additionally, longitudinal studies are needed to assess the prognostic value of this approach and its ability to monitor disease progression and treatment response over time.

In conclusion, our findings suggest that DBS compound movement analysis holds promise as a non-invasive and cost-effective screening method for ADA2 deficiency [9,10]. This approach has the potential to revolutionize the diagnosis and management of ADA2 deficiency, offering a practical solution for early detection and intervention in affected individuals.

Conclusion

In conclusion, our study highlights the potential of dried blood spot (DBS) compound movement analysis as a novel and promising approach for the diagnosis of adenosine deaminase 2 (ADA2) deficiency. Through the analysis of compound movement patterns within DBS samples collected from patients suspected of ADA2 deficiency, we have demonstrated the ability to differentiate affected individuals from healthy controls with high sensitivity and specificity. The non-invasive nature, simplicity, and cost-effectiveness of DBS compound movement analysis make it an attractive screening method for ADA2 deficiency, particularly in settings where access to specialized diagnostic facilities is limited. By enabling early detection and intervention, DBS compound movement analysis has the potential to improve clinical outcomes and quality of life for individuals with ADA2 deficiency.

Moving forward, further validation studies in larger patient cohorts are needed to confirm the diagnostic accuracy and reliability of DBS compound movement analysis for ADA2 deficiency. Longitudinal studies are also warranted to assess the prognostic value of this approach and its ability to monitor disease progression and treatment response over time. Overall, our findings suggest that DBS compound movement analysis holds promise as a valuable tool in the diagnosis and management of ADA2 deficiency, offering a practical and accessible solution for early detection and intervention in affected individuals. Further research and clinical implementation of this approach have the potential to significantly impact the care of patients with ADA2 deficiency and other rare genetic disorders.

Acknowledgement

None

Conflict of Interest

None

1. Haas NL, Gianchandani RY, Gunnerson KJ, Bassin BS, Ganti A, et al. (2018) The two-bag method for treatment of diabetic ketoacidosis in adults. J Emerg Med 54: 593-599.

Indexed at, Google Scholar, Crossref

2. Godwin JL, Jaggi S, Sirisena I, Sharda P, Rao AD, et al. (2017) Nivolumab-induced autoimmune diabetes mellitus presenting as diabetic ketoacidosis in a patient with metastatic lung cancer. J Immunothe Cancer 5: 40.

Indexed at, Google Scholar, Crossref

3. Cooper H, Tekiteki A, Khanolkar M, Braatvedt G (2016) Risk factors for recurrent admissions with diabetic ketoacidosis: a case-control observational study. Diabetic Med 33: 523-528.

Indexed at, Google Scholar, Crossref

4. Degan SD, Dubé F, Gagnon C, Boulet G (2019) Risk factors for recurrent diabetic ketoacidosis in adults with type 1 diabetes. Can J Diabetes 43: 472-476.

 Indexed at, Google Scholar, Crossref

5. Dungan KM (2012) The effect of diabetes on hospital readmissions. J Diabetes Sci Technol 6: 1045-1052.

 Indexed at, Google Scholar, Crossref

6. Maamari J, Yeung SCJ, Chaftari PS (2019) Diabetic ketoacidosis induced by a single dose of pembrolizumab. Am J Emerg Med 37: 376.

Indexed at, Google Scholar, Crossref

7. Umpierrez G, Korytkowski M (2016) Diabetic emergencies-ketoacidosis, hyperglycaemic hyperosmolar state and hypoglycaemia. Nat Rev Endocrinol 12: 222-232.

Indexed at, Google Scholar, Crossref

8. Mae S, Kuriyama A, Tachibana H (2021) Diabetic ketoacidosis as a delayed immune-related event after discontinuation of nivolumab. J Emerg Med 60: 342-344.

Indexed at, Google Scholar, Crossref

9. Kotwal A, Haddox C, Block M, Yogish C, Kudva YC (2019) Immune checkpoint inhibitors: an emerging cause of insulin-dependent diabetes. BMJ Open Diabetes Res Care 7: e000591.

Indexed at, Google Scholar, Crossref

10. Hong AR, Yoon JH, Kim HK, Kang HC (2020) Immune Checkpoint Inhibitor-Induced Diabetic Ketoacidosis: A Report of Four Cases and Literature Review. Front Endocrinol (Lausanne) 11: 14.

Indexed at, Google Scholar, Crossref