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Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack of one or more enzymes involved in the synthesis or degradation of glycogen and are characterized by deposits or abnormal types of glycogen in tissues. Their frequency is very low and they are considered rare diseases. Except for X-linked type IX, the different types are inherited in an autosomal recessive pattern. In this study we reviewed the literature from 1977 to 2020 concerning GSDs, biomarkers, and metabolic imbalances in the symptoms of some GSDs. Most of the reported studies were performed with very few patients. Classification of emerging biomarkers between different types of diseases (hepatics GSDs, McArdle and PDs and other possible biomarkers) was done for better understanding. Calprotectin for hepatics GSDs and urinary glucose tetrasaccharide for Pompe disease have been approved for clinical use, and most of the markers mentioned in this review only need clinical validation, as a final step for their routine use. Most of the possible biomarkers are implied in hepatocellular adenomas, cardiomyopathies, in malfunction of skeletal muscle, in growth retardation, neutropenia, osteopenia and bowel inflammation. However, a few markers have lost interest due to a great variability of results, which is the case of biotinidase, actin alpha 2, smooth muscle, aorta and fibroblast growth factor receptor 4. This is the first review published on emerging biomarkers with a potential application to GSDs.

Psoriasis is a common chronic inflammatory multisystemic disease with a complex pathogenesis consisting of genetic, immunological, and environmental components. It is associated with a number of comorbidities, including diabetes, metabolic syndrome, obesity, and myocardial infarction. In addition, the severity of psoriasis seems to be related to the severity of obesity. Patients with higher levels of obesity show poorer response to systemic treatments of psoriasis. Several studies have demonstrated that white adipose tissue is a crucial site of the formation of proinflammatory adipokines such as leptin, adiponectin, and resistin and classical cytokines such as interleukin- (IL-) 6 and tumour necrosis factor- α . In psoriasis, due to the proliferation of Th1, Th17, and Th22 cells, IL-22, among others, is produced in addition to the abovementioned cytokines. With respect to leptin and resistin, both of these adipokines are present in high levels in obese persons with psoriasis. Further, the plasma levels of leptin and resistin are related to the severity of psoriasis. These results strongly suggest that obesity, through proinflammatory pathways, is a predisposing factor to the development of psoriasis and that obesity aggravates existing psoriasis. Different inflammatory biomarkers link psoriasis and obesity. In this paper, the most important ones are described.

Psychiatric evaluation presents a significant challenge because it conceptually integrates the input from multiple psychopathological approaches. Recent technological advances in the study of protein structure, function, and interactions have provided a breakthrough in the diagnosis and treatment of mood disorders (MD), and have identified novel biomarkers to be used as indicators of normal and disease states or response to drug treatment. The investigation of biomarkers for psychiatric disorders, such as enzymes (catechol-O-methyl transferase and monoamine oxidases) or neurotransmitters (dopamine, serotonin, norepinephrine) and their receptors, particularly their involvement in neuroendocrine activity, brain structure, and function, and response to psychotropic drugs, should facilitate the diagnosis of MD. In clinical settings, prognostic biomarkers may be revealed by analyzing serum, saliva, and/or the cerebrospinal fluid, which should promote timely diagnosis and personalized treatment. The mechanisms underlying the activity of most currently used drugs are based on the functional regulation of proteins, including receptors, enzymes, and metabolic factors. In this study, we analyzed recent advances in the identification of biomarkers for MD, which could be used for the timely diagnosis, treatment stratification, and prediction of clinical outcomes.

Abstract Melanoma has a high mortality rate and metastatic melanoma is highly resistant to conventional therapies. “Omics” fields such as proteomics and microRNA and exosome studies have provided new knowledge to complement the information generated by genomic studies. This work aimed to review the current status of biomarker discovery for melanoma through multi-“omics” platforms. A few sets of novel microRNAs and proteins are described, some of them with important implications in suppressing melanoma at different stages. Upregulation of genes involved in angiogenesis, immunosuppressive factors, modification of stroma, capture of melanoma cells in lymph nodes and factors responsible for tumour cell recruitment have been identified in exosomes, among molecules with other functions. A remarkable series of proteins involved in epithelial-mesenchymal/mesenchymal-epithelial transitions, inflammation, motility, proliferation and progression processes, centrosome amplification, aneuploidy, inhibition of CD8 + effector T-cells, and metastasis in general were identified. Genomic and protein-protein interactions or metabolome levels were not analysed. Proteomics tools such as Orbitrap shotgun mass spectrometry or deep mining proteomic analysis utilizing high-resolution reversed phase nanoseparation in combination with mass spectrometry are also discussed. The application of these tools together with bioinformatics approaches applied to the clinical setting will enable the implementation of personalized medicine in the near future. Graphical abstract Image 1 Highlights • An updated review on melanoma biomarkers discovered via “omics” platforms is presented. • This work is focused on microRNA, exosomes and proteome levels. • Several sets of new diagnostic, prognostic and therapeutics targets are emerging lately and some of them are being validated. • Preventive and personalized medicine as the medicine of the future [ABSTRACT FROM AUTHOR]