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1.
Artículo en Inglés | MEDLINE | ID: mdl-38775911

RESUMEN

OBJECTIVES: To report the diagnostic accuracy of cell-free DNA (cfDNA) in maternal blood in detecting chromosomal anomalies in twin pregnancies. METHODS: Medline, Embase and Cochrane databases were searched. The inclusion criteria were twin pregnancies undergoing cfDNA screening for Trisomies 13, 18, 21, monosomy X0 and other sex chromosomal anomalies (SCA). The index test was represented by a positive results of cfDNA test. The reference standard was represented by the karyotype results (obtained either pre or postnatally) or, in case of negative cfDNA result, by a normal neonatal phenotype. The quality of the studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies (QUADAS-2). Summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR+ and LR-) and diagnostic odds ratio (DOR), with the corresponding 95% Confidence Intervals (95% CI), were computed using the bivariate random-effects model. RESULTS: Thirty-five studies were included. cfDNA had an overall high accuracy in detecting Trisomy 21 in twin pregnancies with a sensitivity of 98.8% (95% CI 96.5-100), a specificity of 100% (95% CI 99.9-100). Sensitivity and specificity were of 94.9% (95% CI 75.6-99.1) and 100 (95% CI 99.9-100) for Trisomy 18, and 84.6% (95% C% 54.6-98.1) and 100% (95% CI 99.9-100) for Trisomy 13 . We could not compute the diagnostic accuracy of cfDNA in detecting monosomy X0 in twins, while cfDNA had a sensitivity of 100% (95% CI 71.5-100) and a specificity of 99.8% (95% CI 99.7-99.9) in detecting other SCA (11 cases). The accuracy of cfDNA in detecting Trisomy 21, 18 and 13 was similar in dichorionic and monochorionic twin pregnancies. CONCLUSION: cfDNA has a high diagnostic accuracy in detecting Trisomy 18 and 21 in twin pregnancies, irrespective of chorionicity. Accuracy in the detection of Trisomy 13 and SCA was limited by the small number of affected cases and the difficulties in the confirmation of false negative cases in case of SCA and requires confirmation in larger studies. This article is protected by copyright. All rights reserved.

2.
J Endocrinol Invest ; 44(1): 49-61, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32335856

RESUMEN

PURPOSE: Gestational diabetes mellitus (GDM) is the most common metabolic disorder in pregnancy, with increasing prevalence worldwide and still unclear pathogenic mechanisms. Extracellular vesicles (EVs) are emerging as potential biomarkers of disease-specific pathways in metabolic disorders, but their potential role in GDM is not fully understood. Therefore, the main aim of this study was to evaluate the link between EVs and hyperglycaemia during pregnancy. METHODS: We assessed 50 GDM women and 50 controls at the third trimester of pregnancy in whom we collected demographic characteristics and clinical and anthropometric parameters. In addition, the circulating total EVs (tEVs) and their subpopulations were assessed using flow cytometry. RESULTS: The levels of tEVs and EVs subtypes, expressed as median and interquartile range, were not significantly different between two groups; however, adipocyte-derived EVs (aEVs) concentration, expressed as percentage, was higher in controls than in GDM women (p = 0.045). In addition, a significant correlation was observed between aEVs (%) and third trimester total cholesterol (p = 0.022) within the GDM group. Furthermore, a significant correlation between endothelial-derived EVs (eEVs) and platelet-derived EVs (pEVs) within both groups was found, as well as a significant relation between aEVs and pEVs. CONCLUSIONS: These data, although preliminary, represent the starting point for further studies to determine the role of circulating EVs in GDM.


Asunto(s)
Biomarcadores/metabolismo , Índice de Masa Corporal , Diabetes Gestacional/fisiopatología , Vesículas Extracelulares/patología , Hiperglucemia/epidemiología , Adulto , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Hiperglucemia/metabolismo , Hiperglucemia/patología , Italia/epidemiología , Embarazo , Tercer Trimestre del Embarazo , Pronóstico
3.
Pharmacogenomics J ; 17(2): 186-191, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-26902538

RESUMEN

In recent years, increasing interest has been devoted to the susceptibility gene polymorphisms in type 1 diabetes (T1D) as well as in other autoimmune diseases. Among these, a nucleotide polymorphism of the gene encoding for the protein tyrosine phosphatase non-receptor type 22 (PTPN22) has been associated with T1D in several studies. The aim of this study is to define the frequency of the C1858T polymorphism in the PTPN22 gene in a cohort of 113 Caucasian patients (58 males and 55 females) with T1D, and to assess a possible correlation with a group of clinically relevant variables: age at onset, gender, diabetes-related autoantibodies, residual ß-cell function and daily insulin requirement (IR) 6 months after diagnosis. Using a PCR-RFLP approach, we evidenced a 17.7% frequency of the PTPN22 C1858T polymorphism in diabetic patients, higher than the frequency showed in the general population. A statistically significant correlation between this polymorphism and higher levels of C-peptide at diagnosis and lower IR at 6 months from diagnosis was observed (P=0.001 and P=0.04). Moreover, 1858T variant carriers were more frequently positive for glutamic acid decarboxylase (GAD) autoantibodies at diagnosis than wild-type subjects (P=0.19). On the other hand, no significant difference regarding age at onset, gender distribution, insulinoma-associated 2 molecule (IA2) and islet cell antibodies (ICA) positivity was found. These findings, if adequately confirmed in the future and extended to larger samples, may characterize a subset of T1D patients with a defined genetic pattern, who may be eligible for trials aimed to preserve residual ß-cell function in the coming years.


Asunto(s)
Diabetes Mellitus Tipo 1/genética , Variantes Farmacogenómicas , Polimorfismo de Nucleótido Simple , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Adolescente , Factores de Edad , Autoanticuerpos/sangre , Biomarcadores/sangre , Glucemia/metabolismo , Péptido C/sangre , Niño , Preescolar , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/enzimología , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Glutamato Descarboxilasa/inmunología , Hemoglobina Glucada/metabolismo , Heterocigoto , Homocigoto , Humanos , Hipoglucemiantes/administración & dosificación , Insulina/administración & dosificación , Células Secretoras de Insulina/efectos de los fármacos , Células Secretoras de Insulina/inmunología , Células Secretoras de Insulina/metabolismo , Masculino , Farmacogenética , Fenotipo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento
4.
Hum Reprod ; 32(12): 2474-2484, 2017 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-29087515

RESUMEN

STUDY QUESTION: Is the phosphoinositol 1,3-kinase/protein kinase B (PI3K/AKT) pathway expression profile in cumulus cells (CCs) a potential marker of oocyte competence and predictive of pregnancy outcome? SUMMARY ANSWER: Eleven genes (AKT1, ARHGEF7, BCL2L1, CCND1, E2F1, HRAS, KCNH2, PIK3C2A, SHC1, SOS1 and SPP1) in the PI3K/AKT pathway were significantly down-regulated in CCs from oocytes that went on to produce a pregnancy compared to CCs associated with a negative outcome. WHAT IS KNOWN ALREADY: The PI3K/AKT pathway plays a pivotal role in the interdependence and continuous feedback between the oocyte and CCs. STUDY DESIGN SIZE, DURATION: The expression analysis of 92 transcripts in the PI3K/AKT pathway in CCs from patients with negative or positive pregnancy outcome, after single embryo transfer, was performed. Mouse CCs target gene expression was conducted to associate the expression profile of PI3K/AKT pathway to oocyte developmental profile. PARTICIPANTS/MATERIALS, SETTING, METHODS: Fifty-five good prognosis IVF patients who had been referred to IVF or intracytoplasmic sperm injection treatment for male-factor infertility or tubal disease were enroled. CCs from single cumulus-oocyte complexes (COCs) from 16 patients who underwent a single embryo transfer were analyzed. Twenty-five CD-1 mice were used to assess gene expression in CCs associated with oocytes with different competence in relation to hCG priming. A total 220 human COCs were collected. The RNA extracted from CCs of 16 selected patients was used to analyze PI3K/AKT pathway gene expression employing a 96-well custom TaqMan Array. Expression data of CCs associated to positive IVF outcome were compared to data from negative outcome samples. Mice were sacrificed after 9, 12, 15, 21 and 24 h post-hCG administration to obtain CCs from MII oocytes with different developmental competence. Akt1, Bcl2l2 and Shc1 expression were tested in the collected mouse CCs. In addition, the expression of upstream regulator ESR1, the gene encoding for the oestrogen receptor ERß, and the downstream effectors of the pathway FOXO1, FOXO3 and FOXO4 was evaluated in human and mouse samples. MAIN RESULTS AND THE ROLE OF CHANCE: Transcripts involved in the PI3K Signaling Pathway were selectively modulated according to the IVF/ICSI outcome of the oocyte. Eleven transcripts in this pathway were significantly down-regulated in all samples of CCs from oocytes with positive when compared those with a negative outcome. These outcomes were confirmed in mouse CCs associated with oocytes at different maturation stages. Expression data revealed that the down-regulation of ESR1 could be related to oocyte competence and is likely to be the driver of expression changes highlighted in the PI3K/AKT pathway. LIMITATIONS REASONS FOR CAUTION: Small sample size and retrospective design. WIDER IMPLICATIONS OF THE FINDINGS: The CCs expression profile of PI3K/AKT signaling genes, disclosed a specific CCs gene signature related to oocyte competence. It could be speculated that CCs associated with competent oocytes have completed their role in sustaining oocyte development and are influencing their fate in response to metabolic and hormonal changes by de-activating anti-apoptotic signals. STUDY FUNDING/COMPETING INTEREST(S): Supported by Merck Serono an affiliate of Merck KGaA, Darmstadt, Germany (research grant for the laboratory session; Merck KGaA reviewed the manuscript for medical accuracy only before journal submission. The authors are fully responsible for the content of this manuscript, and the views and opinions described in the publication reflect solely those of the authors). The authors declare no conflict of interest.


Asunto(s)
Células del Cúmulo/metabolismo , Regulación del Desarrollo de la Expresión Génica , Oocitos/citología , Fosfatidilinositol 3-Quinasas/genética , Proteínas Proto-Oncogénicas c-akt/genética , Adulto , Animales , Proliferación Celular , Supervivencia Celular , Regulación hacia Abajo , Femenino , Fertilización In Vitro , Perfilación de la Expresión Génica , Humanos , Ratones , Pronóstico , Transducción de Señal , Inyecciones de Esperma Intracitoplasmáticas
5.
Eur Rev Med Pharmacol Sci ; 28(6): 2627, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38567623

RESUMEN

Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 77-88-DOI: 10.26355/eurrev_202312_34692 After publication and following some post-publication concerns, the authors have applied the following corrections to the galley proof. The conflict of interest section has been amended as follows: K. Donato is employee at MAGI EUREGIO and MAGISNAT. G. Marceddu is employee at MAGI EUREGIO. M. Bertelli is president of MAGI EUREGIO, MAGISNAT, and MAGI's LAB. M.C. Medori, A. Macchia, S. Cecchin, C. Micheletti, K. Dhuli, G. Madeo, G. Bonetti are employees at MAGI's LAB. M. Bertelli, M.R. Ceccarini, and P. Chiurazzi are patent inventors (US20220362260A11). M. Bertelli, P.E. Maltese, G. Marceddu, and S. Cecchin are patent inventors (US20230173003A1). M. Bertelli, K. Dhuli, and P.E. Maltese are patent inventors (WO2022079498A1). M. Bertelli, K. Donato, M.C. Medori, M.R. Ceccarini, T. Beccari, P. Chiurazzi, C. Micheletti, K. Dhuli, G. Bonetti, G. Marceddu are patent applicants (Application Number: 18/466.879). The remaining authors have no conflict of interest to disclose. Since the current study shares the same NGS panel for the genetic analysis as the study cited in Ref. 5 (Ceccarini MR, Precone V, Manara E, Paolacci S, Maltese PE, Benfatti V, Dhuli K, Donato K, Guerri G, Marceddu G, Chiurazzi P, Dalla Ragione L, Beccari T, Bertelli M. A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa. Eat Weight Disord 2022; 27: 1869-1880), the authors amend the following sentence: "A subset comprising 163 genes from a dedicated Next-Generation Sequencing (NGS) panel was analyzed5" in "A subset comprising 163 genes from a dedicated Next-Generation Sequencing (NGS) panel, previously used in the study by Ceccarini et al5, was analyzed". The authors clarify that the analyzed patients of the two articles are completely independent. To clarify the data reported in Table II, the authors amend the following sentence: "Genetic variants identified in the AN population are reported in Table II." In "The genomic sequencing NGS was performed in all 135 patients recruited in the study. After obtaining the raw data, based on the ACMG guidelines (https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/Practice-Guidelines.aspx), the results were filtered, and Table II reports the variants considered Pathogenic (P), likely pathogenic (LP), and Variable with Uncertain Significance (VUS), 61 patients in total". Consequently, to improve clarity, the legend of Table II has been amended as follows: Genetic variants identified in 61 patients out of the total 135 patients analyzed by NGS. There are amendments to this paper. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/34692.

6.
Eur Rev Med Pharmacol Sci ; 28(6): 2628, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38567624

RESUMEN

Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 89-99-DOI: 10.26355/eurrev_202312_34693 After publication and following some post-publication concerns, the authors have applied the following corrections to the galley proof. -       The conflict of interest section has been amended as follows: M.C. Medori and D. Malacarne are employees at MAGI'S LAB. K. Donato is employee at MAGI EUREGIO and MAGISNAT. M. Bertelli is president of MAGI EUREGIO, MAGISNAT, and MAGI's LAB. E. Borghetti is president at AERSAFE srl. C. Zuccato is researcher at AERSAFE srl. E. Borghetti is patent inventor (IT202100021344A1, IT202100020330A1, WO2021260537A1, WO2022259165A1). M. Bertelli is patent inventor (US20220362260A1, US20230173003A1, WO2022079498A1). D. Malacarne is patent inventor (WO2022079498A1; US20230173003A1). S. Michelini is patent inventor (US20220362260A1). M. Bertelli, S. Michelini, and K. Donato are patent applicants (Application Number: 18/516,241). M. Bertelli and K. Donato are patent applicants (Application Number: 18/466.879). M. Bertelli, K. Donato, and S. Michelini are patent applicants (Application Number: 63/495,155). The remaining authors have no conflict of interest to disclose. There are amendments to this paper. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/34693.

7.
Clin Ter ; 174(Suppl 2(6)): 37-45, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994747

RESUMEN

Abstract: Lung cancer is a complex disease, with a wide range of genetic alterations and clinical presentations. Understanding the natural and clinical history of the disease is crucial for developing effective diagnostic and treatment strategies. Omics approaches, such as genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools for understanding the molecular mechanisms underlying lung cancer and for identifying novel biomarkers and therapeutic targets. These approaches enable researchers to examine the entire genome, transcriptome, proteome, or metabolome of a cell or tissue, providing a comprehensive view of the biological processes involved in lung cancer development and progression. Targeted therapies that address specific genetic mutations and pathways hold promise for improving the diagnosis and treatment of this disease.


Asunto(s)
Neoplasias Pulmonares , Medicina de Precisión , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/terapia , Genómica , Proteómica , Metabolómica
8.
Clin Ter ; 174(Suppl 2(6)): 68-76, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994750

RESUMEN

Background: Sarcomas are a relatively rare but diverse group of cancers that typically develop in the mesenchymal cells of bones and soft tissues. Occurring in more than 70 subtypes, sarcomas have broad histological presentations, posing significant challenges of prognosis and treatment. Modern multi-omics studies, which include genomics, proteomics, metabolomics, and micro-biomics, are vital to understand the underlying mechanisms of sarcoma development and progression, identify molecular biomarkers for early detection, develop personalized treatment plans, and discover drug resistance mechanisms in sarcomas to upsurge the survival rate. Aim: This study aims to highlight the genetic risk factors responsible for sarcoma-genesis, and to present a comprehensive review of multi-omics studies about sarcoma. Methods: Extensive literature research was undertaken using reliable and authentic medical journals, e-books, and online cancer research databases. Mendelian inheritance in man database (OMIM) was explored to study particular genes and their loci that are responsible to cause various sarcomas. Result: This in-depth research led to the finding out that omics studies provide a more comprehensive understanding of underlying molecular mechanisms of sarcomas. Through genomics, we can reveal genetic alterations that predispose to sarcoma, like mutation in TP53, NF1, and so on. Pharmacogenomics enable us to find molecular targets for specific drugs. Whereas, proteomic and metabolomic studies provide insights into the biological pathways involved in sarcoma development and progression. Conclusion: Future advancements in omics sciences for sarcoma are on the cutting-edge of defining precision treatment plans and improved resilience of sarcoma patients.


Asunto(s)
Proteómica , Sarcoma , Humanos , Medicina de Precisión , Genómica , Sarcoma/tratamiento farmacológico , Sarcoma/genética , Biomarcadores
9.
Clin Ter ; 174(Suppl 2(6)): 11-20, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994744

RESUMEN

Background: Thyroid cancer, a heterogeneous disease originating from the thyroid gland, stands as the predominant endocrine malignan-cy worldwide. Despite advances in diagnosis and treatment, some patients still experience recurrence and mortality, which highlights the need for more personalized approaches to treatment. Omics sciences, encompassing genomics, transcriptomics, proteomics, and metabolomics, offer a high-throughput and impartial methodology for investigating the molecular signatures of thyroid cancer. Methods: In the course of this review, we have adopted a focu-sed research strategy, meticulously selecting the most pertinent and emblematic articles related to the topic. Our methodology included a systematic examination of the scientific literature to guarantee a thorough and precise synthesis of the existing sources. Results: These techniques enable the identification of molecular markers that can aid in diagnosis, prognosis, and treatment selection. As an illustration, through genomics studies, numerous genetic alterations commonly discovered in thyroid cancer have been identified, such as mutations in the BRAF and RAS genes. Through transcriptomics studies, distinctively expressed genes in thyroid cancer have been uncovered, playing roles in diverse biological processes, including cell proliferation, invasion, and metastasis. These genes can serve as potential targets for novel therapies. Proteomics studies have unveiled differentially expressed proteins intricately involved in thyroid cancer pathogenesis, presenting promising biomarkers for early detection and disease progression monitoring. Metabolomics studies have identified alterations in metabolic pathways linked to thyroid cancer, offering promising avenues for potential therapeutic targets. Conclusions: Precision medicine in thyroid cancer involves the integration of omics sciences with clinical data to develop personalized treatment plans for patients. Employing targeted therapies guided by molecular markers has exhibited promising outcomes in enhancing the prognosis of thyroid cancer patients. Notably, those with advanced hyroid cancer carrying BRAF mutations have displayed substantial responses to specific targeted therapies, such as vemurafenib and dabrafenib.


Asunto(s)
Medicina de Precisión , Neoplasias de la Tiroides , Humanos , Proteínas Proto-Oncogénicas B-raf , Genómica/métodos , Proteómica/métodos , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/terapia , Biomarcadores
10.
Clin Ter ; 174(Suppl 2(6)): 21-28, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994745

RESUMEN

Background: Cancer, a potentially fatal condition, is one of the leading causes of death worldwide. Among males aged 20 to 35, the most common cancer in healthy individuals is testicular cancer, accounting for 1% to 2% of all cancers in men. Methods: Throughout this review, we have employed a targeted research approach, carefully handpicking the most representative and relevant articles on the subject. Our methodology involved a systematic review of the scientific literature to ensure a comprehensive and accurate overview of the available sources. Results: The onset and spread of testicular cancer are significantly influenced by genetic changes, including mutations in oncogenes, tu-mor suppressor genes, and DNA repair genes. As a result of identifying these specific genetic mutations in cancers, targeted medications have been developed to disrupt the signaling pathways affected by these genetic changes. To improve the diagnosis and treatment of this disease, it is crucial to understand its natural and clinical histories. Conclusions: In order to comprehend cancer better and to discover new biomarkers and therapeutic targets, oncologists are increasingly employing omics methods, such as genomics, transcriptomics, proteomics, and metabolomics. Targeted medications that focus on specific genetic pathways and mutations hold promise for advancing the diagnosis and management of this disease.


Asunto(s)
Neoplasias Testiculares , Humanos , Masculino , Neoplasias Testiculares/genética , Neoplasias Testiculares/terapia , Medicina de Precisión , Genómica/métodos , Proteómica/métodos
11.
Clin Ter ; 174(Suppl 2(6)): 1-10, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994743

RESUMEN

Abstract: This comprehensive review explores the potential of omics sciences - such as genomics, transcriptomics, proteomics, and metabolomics - in advancing the diagnosis and therapy of urothelial carcinoma (UC), a prevalent and heterogeneous cancer affecting the urinary tract. The article emphasizes the significant advancements in understanding the molecular mechanisms underlying UC development and progression, obtained through the application of omics approa-ches. Genomic studies have identified recurrent genetic alterations in UC, while transcriptomic analyses have revealed distinct gene expression profiles associated with different UC subtypes. Proteomic investigations have recognized protein biomarkers with diagnostic and prognostic potential, and metabolomic profiling has found metabolic alterations that are specific to UC. The integration of multi-omics data holds promises in refining UC subtyping, identifying therapeutic targets, and predicting treatment response. However, challenges like the standardization of omics technologies, validation of biomarkers, and ethical considerations need to be addressed to successfully translate these findings into clinical practice. Omics sciences offer tremendous potential in revolutionizing the diagnosis and therapy of UC, enabling more precise diagnostic methods, prognostic evaluations, and personalized treatment selection for UC patients. Future research efforts should focus on overcoming these challenges and translating omics discoveries into meaningful clinical applications to improve outcomes for UC patients.


Asunto(s)
Carcinoma de Células Transicionales , Neoplasias de la Vejiga Urinaria , Humanos , Proteómica/métodos , Medicina de Precisión , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/terapia , Biomarcadores
12.
Eur Rev Med Pharmacol Sci ; 27(6 Suppl): 89-99, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-38112950

RESUMEN

The prosperity of our planet relies on the cardinal concept of sustainable development. The dietary choices of humans play a pivotal role in creating a peaceful and contented world. In this context, the Mediterranean diet (MD) has emerged as a valuable approach to accomplishing such progress, wherein the rights of all living beings are equally honored. This review aims to analyze the significance of a plant-based diet, particularly the Mediterranean diet, in attaining sustainable development goals. A comprehensive search of the literature was conducted to gather the most reliable and published scientific evidence from books and papers. Within this research endeavor, specific Sustainable Development Goals (SDGs) are individually addressed in relation to the adoption of the Mediterranean diet as a foundational nutritional paradigm. Our research findings underscore the immense importance of the MD and advocate for its worldwide implementation to accomplish sustainable development objectives. The MD emerges as the most suitable dietary option for fostering sustainability and tranquility in our world. It is crucial to prioritize the global implementation of the MD to genuinely achieve sustainable development.


Asunto(s)
Dieta Mediterránea , Desarrollo Sostenible , Humanos
13.
Eur Rev Med Pharmacol Sci ; 27(6 Suppl): 77-88, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-38112957

RESUMEN

OBJECTIVE: Anorexia nervosa (AN) is a severe psychiatric disorder characterized by an intense fear of gaining weight, a relentless pursuit of thinness, and a distorted body image. Recent research highlights the substantial contribution of genetics to AN's etiology, with genes like BDNF, SLC6A4, and DRD2 implicated. However, a comprehensive genetic test for AN diagnosis is lacking. This study aims to elucidate the biological foundations of AN, examining variants in genes associated with syndromic forms, rare variants in AN patients, and candidate genes from GWAS studies, murine models, or established molecular pathways. MATERIALS AND METHODS: The study involved 135 AN patients from Italy, diagnosed based on DSM-V criteria. A specialized Next-Generation Sequencing panel targeting 163 genes was designed. Sequencing was performed on an Illumina MiSeq System, and variants were analyzed using bioinformatics tools. Data on clinical parameters, exercise habits, and AN types were collected. RESULTS: The AN cohort, predominantly female, exhibited diverse clinical characteristics. Our analysis identified gene variants associated with syndromic forms of AN, such as STRA6, NF1, MAT1A, and ABCC6. Variants were also found in known AN-related genes (CD36, DRD4, GCKR, GHRL, GRIN3B, GPR55, LEPR) and in other 16 candidate genes (A2M, AEBP1, ABHD4, ACBD7, CNTNAP, GFRAL, GRIN2D, LIPE, LMNA, NMU, PDE3B, POMC, RYR1, TNXB, TYK2, VPS13B), highlighting the complexity of AN's genetic landscape. The endocannabinoid and dopamine pathways play crucial roles. Skeletal muscle-related genes and appetite-regulating hormones also revealed potential connections. Adipogenesis-related genes suggest AN's association with subcutaneous adipose tissue deficiency. CONCLUSIONS: This study provides comprehensive insights into the genetic underpinnings of AN, emphasizing the importance of multiple pathways. The identified variants contribute.


Asunto(s)
Anorexia Nerviosa , Humanos , Femenino , Animales , Ratones , Masculino , Anorexia Nerviosa/diagnóstico , Anorexia Nerviosa/genética , Anorexia Nerviosa/psicología , Estudio de Asociación del Genoma Completo , Italia , Carboxipeptidasas , Proteínas Represoras/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Receptores de Cannabinoides/genética
14.
Eur Rev Med Pharmacol Sci ; 27(6 Suppl): 100-113, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38112951

RESUMEN

The UN Sustainable Development Goals (SDGs) strive to eliminate poverty, preserve the planet, and promote shared prosperity through sustainable and inclusive means by 2030. This requires the implementation of a diverse set of strategies to overcome challenges and foster synergies among different SDG targets, facilitating the achievement of these ambitious goals. The aim of this review is to highlight the world's progress toward SDGs with the utilization of biotechnological advancements, including targets, strategies, synergies, and challenges. We scrutinized published research articles in peer-reviewed journals, UN reports, and scientific books that were relevant to the current topic. We identified some major challenges faced by the countries, especially developing ones, in the way of sustainable progress. These include inadequate governance, fragile states, armed conflicts, rising inequality, limited economic progress, climate change, environmental degradation, and food insecurity. Biotechnological advancements contribute to sustainable resource management, environmental conservation, and ecosystem restoration. Collaboration among countries and organizations is crucial for sharing knowledge and providing technical and financial assistance to developing nations.


Asunto(s)
Biotecnología , Desarrollo Sostenible , Salud Global , Objetivos , Naciones Unidas
15.
Clin Ter ; 174(Suppl 2(6)): 29-36, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994746

RESUMEN

Background: This article provides an overview of the application of omics sciences in melanoma research. The name omics sciences refers to the large-scale analysis of biological molecules like DNA, RNA, proteins, and metabolites. Methods: In the course of this review, we have adopted a focu-sed research strategy, meticulously selecting the most pertinent and emblematic articles related to the topic. Our methodology included a systematic examination of the scientific literature to guarantee a thorough and precise synthesis of the existing sources. Results: With the advent of high-throughput technologies, omics have become an essential tool for understanding the complexity of melanoma. In this article, we discuss the different omics approaches used in melanoma research, including genomics, transcriptomics, proteomics, and metabolomics. We also highlight the major findings and insights gained from these studies, including the identification of new therapeutic targets and the development of biomarkers for diagnosis and prognosis. Finally, we discuss the challenges and future directions in omics-based melanoma research, including the integration of multiple omics data and the development of personalized medicine approaches. Conclusions: Overall, this article emphasizes the importance of omics science in advancing our understanding of melanoma and its potential for improving patient outcomes.


Asunto(s)
Melanoma , Medicina de Precisión , Humanos , Genómica/métodos , Proteómica/métodos , Biomarcadores , Melanoma/genética , Melanoma/terapia
16.
Clin Ter ; 174(Suppl 2(6)): 95-103, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994753

RESUMEN

Abstract: In the last decade, Prostate Cancer (PCa) has emerged as the second most prevalent and serious medical condition, and is considered one of the leading factors contributing to global mortality rates. Several factors (genetic as well as environmental) contribute to its development and seriousness. Since the disease is usually asymptomatic at early stages, it is typically misdiagnosed or over-diagnosed by the diagnostic procedures currently in use, leading to improper treatment. Effective biomarkers and diagnostic techniques are desperately needed in clinical settings for better management of PCa patients. Studies integrating omics sciences have shown that the accuracy and dependability of diagnostic and prognostic evaluations have increased because of the use of omics data; also, the treatment plans using omics can be facilitated by personalized medicine. The present review emphasizes innovative multi-omics methodologies, encompassing proteomics, genomics, microbiomics, metabolomics, and transcriptomics, with the aim of comprehending the molecular alterations that trigger and contribute to PCa. The review shows how early genomic and transcriptomic research has made it possible to identify PCa-related genes that are controlled by tumor-relevant signaling pathways. Proteomic and metabolomic analyses have recently been integrated, advancing our understanding of the complex mechanisms at play, the multiple levels of regulation, and how they interact. By applying the omics approach, new vulnerabilities may be discovered, and customized treatments with improved efficacy will soon be accessible.


Asunto(s)
Neoplasias de la Próstata , Proteómica , Humanos , Masculino , Proteómica/métodos , Medicina de Precisión , Genómica/métodos , Neoplasias de la Próstata/diagnóstico , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/terapia , Biomarcadores
17.
Clin Ter ; 174(Suppl 2(6)): 46-54, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994748

RESUMEN

Abstract: In the last decade, renal carcinoma has become more prevalent in European and North American regions. Kidney tumors are usually categorized based on histological features, with renal cell carcinoma being the most common subtype in adults. Despite conventional diagnostic and therapeutic strategies, a rise in cancer incidence and recurrence necessitates a fresh approach to diagnosing and treating kidney cancer. This review focuses on novel multi-omics approaches, such as genomics, transcriptomics, proteomics, metabolomics, and microbiomics, to better understand the molecular and clinical features of renal cell carcinoma. Studies integrating omics sciences have shown early promise in enhancing prognostic and therapeutic outcomes for various kidney cancer subtypes and providing insight into fundamental pathophysiological mechanisms occurring at different molecular levels. This review highlights the importance of utilizing omics sciences as a revolutionary concept in diagnostics and therapeutics and the clinical implications of renal cell carcinoma. Finally, the review presents the most recent findings from large-scale multi-omics studies on renal cell carcinoma and its associations with patient subtyping and drug development.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/terapia , Medicina de Precisión , Genómica , Proteómica , Neoplasias Renales/genética , Neoplasias Renales/terapia
18.
Clin Ter ; 174(Suppl 2(6)): 77-84, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994751

RESUMEN

Abstract: Glioblastoma is a highly aggressive and malignant type of brain cancer with a poor prognosis, despite current treatment options of surgery, radiation therapy, and chemotherapy. These treatments have limitations due to the aggressive nature of the cancer and the difficulty in completely removing the tumor without damaging healthy brain tissue. Personalized medicine, using genomic profiling to tailor treatment to the patient's specific tumor, and immunotherapy have shown promise in clinical trials. The blood-brain barrier also poses a challenge in delivering treatments to the brain, and researchers are exploring various approaches to bypass it. More effective, personalized treatment approaches are needed to improve outcomes for glioblastoma patients. This tumor is studied using genomics, transcriptomics, and proteomics techniques, to better understand its underlying molecular mechanisms. Recent studies have used these techniques to identify potential therapeutic targets, molecular subtypes, and heterogeneity of tumor cells. Advancements in omics sciences have improved our understanding of glioblastoma biology, and precision medicine approaches have impli-cations for more accurate diagnoses, improved treatment outcomes, and personalized preventive care. Precision medicine can match patients with drugs that target specific genetic mutations, improve clinical trials, and identify individuals at higher risk for certain diseases. Precision medicine, which involves customizing medical treatment based on an individual's genetic makeup, lifestyle, and environmental factors, has shown promise in improving treatment outcomes for glioblastoma patients. Identifying biomarkers is essential for patient stratification and treatment selection in precision medicine approaches for glioblastoma, and several biomarkers have shown promise in predicting patient response to treatment. Targeted therapies are a key component of precision medicine approaches in glioblastoma, but there is still a need to improve their effectiveness. Technical challenges, such as sample quality and availability, and challenges in analyzing and interpreting large amounts of data remain significant obstacles in omics sciences and precision medicine for glioblastoma. The clinical implementation of precision medicine in glioblastoma treatment faces challenges related to patient selection, drug development, and clinical trial design, as well as ethical and legal considerations related to patient privacy, informed consent, and access to expensive treatments.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/terapia , Glioblastoma/tratamiento farmacológico , Medicina de Precisión , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/terapia , Proteómica/métodos , Biomarcadores
19.
Clin Ter ; 174(Suppl 2(6)): 55-67, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994749

RESUMEN

Abstract: Colon cancer presents a complex pathophysiological landscape, which poses a significant challenge to the precise prediction of patient prognosis and treatment response. However, the emergence of omics sciences such as genomics, transcriptomics, proteomics, and metabolomics has provided powerful tools to identify molecular alterations and pathways involved in colon cancer development and progression. To address the lack of literature exploring the intersection of omics sciences, precision medicine, and colon cancer, we conducted a comprehensive search in ScienceDirect and PubMed databases. We included systematic reviews, reviews, case studies, clinical studies, and randomized controlled trials that were published between 2015-2023. To refine our search, we excluded abstracts and non-English studies. This review provides a comprehensive summary of the current understanding of the latest developments in precision medicine and omics sciences in the context of colon cancer. Studies have identified molecular subtypes of colon cancer based on genomic and transcrip-tomic profiles, which have implications for prognosis and treatment selection. Furthermore, precision medicine (which involves tailoring treatments, based on the unique molecular characteristics of each patient's tumor) has shown promise in improving outcomes for colon cancer patients. Omics sciences and precision medicine hold great promise for identifying new therapeutic targets and developing more effective treatments for colon cancer. Although not strictly designed as a systematic review, this review provides a readily accessible and up-to-date summary of the latest developments in the field, highlighting the challenges and opportunities for future research.


Asunto(s)
Neoplasias del Colon , Medicina de Precisión , Humanos , Neoplasias del Colon/genética , Neoplasias del Colon/terapia , Genómica , Pronóstico , Proteómica
20.
Clin Ter ; 174(Suppl 2(6)): 104-118, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37994754

RESUMEN

Background: Human breast carcinoma is a complex disease, affecting 1 in 8 women worldwide. The seriousness of the disease increases when the definite cause of the disease remains obscure, thus making prognosis challenging. Researchers are emphasizing on adapting more advanced and targeted therapeutic approaches to address the multifaceted impacts of the disease. Hence, modern multi-omics systems have gained popularity among clinicians, as they offer insights into the genomic, pharmacogenomic, metabolomic, and microbiomic factors, thus allowing researchers to develop targeted and personalized approaches for breast cancer prevention and early detection, and eventually improving patient outcomes. Aim: The primary focus of this study is to elucidate, through the integration of multi-omics research findings, the inherent molecular origins of diverse subtypes of breast cancer and to evaluate the effectiveness of these findings in reducing breast cancer-related mortalities. Methods: Thorough investigation was conducted by reviewing reputable and authoritative medical journals, e-books, and online databases dedicated to cancer research. The Mendelian inheritance in man database (OMIM) was used to scrutinize specific genes and their respective loci associated with the development of different types of breast cancer. Results: Our present research revealed the holistic picture of sundry molecular, genomic, pharmacogenomic, metabolomic, and microbiomic features of breast cancer. Such findings, like genetic alterations in highly penetrant genes, plus metabolomic and microbiomic signatures of breast cancer, unveil valuable insights and show great potential for multi-omics research in breast oncology. Conclusion: Further research in omics sciences pertaining to breast cancer are at the forefront of shaping precise treatment and bolstering patient survival.


Asunto(s)
Neoplasias de la Mama , Neoplasias Ováricas , Femenino , Humanos , Medicina de Precisión , Genómica , Neoplasias de la Mama/genética , Neoplasias de la Mama/terapia , Pronóstico , Neoplasias Ováricas/genética , Neoplasias Ováricas/terapia
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