Search Results (9)

Biopsychosocial factors, including family history, influence the development of breast cancer. Malignancies in women with a family history of breast cancer may be detectable based on DNA methylation and microRNA. Objectives: The present study extended an integrative analysis of DNA methylation and microRNA to identify genes associated with biopsychosocial factors. Methods: We identified 3060 healthy women from the Taiwan Biobank and included 32 blood plasma samples for analysis of biopsychosocial factors and epigenetic changes. GEO databases and bioinformatics approaches were used for the identification and validation of potential genes. Results: Our integrative analysis revealed GNPDA1 and SLC25A16 as potential genes. Age, a family history of cancer, and alcohol consumption were associated with GNPDA1 and SLC25A16 based on the current data set and the GEO data set. GNPDA1 and SLC25A16 exhibited significant expression in breast cancer tissues based on UALCAN analysis, where they were overexpressed and underexpressed, respectively. Through a MethSurv analysis, GNPDA1 hypomethylation and SLC25A16 hypermethylation were associated with poor prognoses in terms of overall survival in breast cancer. Moreover, through a MetaCore functional enrichment analysis, GNPDA1 and SLC25A16 were associated with the BRCA1, BRCA2, and pro-oncogenic actions of the androgen receptor in breast cancer. Further, GNPDA1 and SLC25A16 were enriched in known targets of approved cancer drugs as potential genes associated with breast cancer. Conclusions: These two genes might serve as biomarkers for the early detection of breast cancer, especially for women with a family history of breast cancer. Full article

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2–5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS: PAX3, MITF, EDNRB, EDN3, SOX10, KITLG, and SNAI2. This study investigates the genetic causes of WS in three familial cases. Whole-exome sequencing (WES) was performed to identify single nucleotide variants (SNVs). Copy number variants (CNVs) were analyzed from the WES raw data and through multiplex ligation-dependent probe amplification (MLPA). The study identified one pathogenic SNV and two novel CNVs, corresponding to type I and type II WS patterns in the three families. The SNV, a nonsense variant (c.1198C>T p.Arg400*), was found in MITF and segregated in the affected father. The two CNVs were a deletion of exon 5 in PAX3 in a family with two affected members and a large novel deletion comprising seven genes, including SOX10, in a family with three affected members. These findings confirmed a WS diagnosis through genetic testing. The study emphasizes the importance of integrating multiple genetic testing approaches for accurate and reliable diagnosis, highlighting their role in improving patient management and providing tailored genetic counseling. Full article

Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disease characterized by extensive arterial calcification in infancy, with clinical manifestations such as arterial stenoses and heart failure. The ENPP1 inactivation mutation has been identified as a potential defect in most of the cases of GACI, while mutations in ABCC6 are demonstrated in patients who are genotyped as pseudoxanthoma elasticum and only limited cases of GACI are reported. Whole-exome sequencing was applied for the detection of pathogenic variants. Copy-number variants of pathogenic genes were also evaluated through a bioinformatic process and were further validated by real-time quantitative PCR. In this report, we described the clinical information and treatment of a patient with extensive arterial calcification. We have identified the underlying cause as biallelic mutations in ABCC6 (NM_00117: exon30, c.4223_4227dupAGCTC p.(Leu1410Serfs*56)) and a unique exonic deletion that spans from the first to the fourth exons of ABCC6 (chr16:16313388-16330869)). This discovery was made by utilizing a combined genetic testing approach. With the review of previously reported GACI patients with ABCC6 mutation, our work contributed to enriching the mutation spectrum of GACI and providing further information on this rare form of inherited disorder. Full article

Alcoholic liver disease (ALD) is a significant global health concern associated with excessive alcohol consumption. ALD encompasses various liver conditions with complex pathogenesis and progression influenced by environmental, genetic, and epigenetic factors. Alcoholic cirrhosis of the liver (ALC) is particularly prevalent among socially disadvantaged individuals, and current pharmacotherapy options provide limited treatment. This study aims to explore the potential benefits of radio electric asymmetric conveyer (REAC) technology and its tissue optimization reparative treatment (TO-RPR) in managing ALC. The liver possesses remarkable regenerative capabilities closely tied to its bioelectrical properties. REAC TO-RPR is a novel biotechnological therapeutic approach that aims to enhance and expedite reparative processes in injured tissues by restoring disrupted cellular endogenous bioelectric fields. This study seeks to optimize understanding of REAC TO-RPR’s impact on liver function and clinical outcomes in ALC patients. By investigating the mechanisms underlying liver’s reparative abilities and evaluating the efficacy of REAC TO-RPR, this research aims to address the urgent need for improved interventions in managing ALC. The findings hold potential for developing innovative treatment approaches, improving patient outcomes, and reducing the societal and individual burden associated with ALC. Full article

Post-Polio Syndrome (PPS) is a chronic condition characterized by the emergence of new symptoms and functional decline in individuals who previously had polio. Despite advances in medical understanding, management of PPS remains challenging. This study aimed to evaluate the use of neurobiological modulation treatments using Radio Electric Asymmetric Conveyer (REAC) technology on fatigue and muscle strength. An open-label study was conducted with 17 patients submitted to four neuromodulation protocols: Neuro Postural Optimization (NPO), Neuro Psycho Physical Optimization (NPPO), Neuro Psycho Physical Optimization—Cervico Brachial (NPPO-CB), and Neuromuscular Optimization (NMO). The Time Up and Go (TUG) test, Handgrip Strength Test, and Revised Piper Fatigue Scale (RPFS) were used to assess participants’ fatigue and muscle strength, being applied at the beginning and end of each protocol. The results obtained from the improvement in strength, physical endurance, and particularly the RPFS behavioral dimension, affective dimension, and psychological sensory dimension, through the utilization of REAC neurobiological modulation treatments, highlight this correlation. These results suggest that these treatments could be considered as a potential therapeutic approach for PPS. Full article

Parkinson’s disease is a neurological disorder that affects both motor and non-motor functions, including depression, anxiety, and cognitive decline. Currently, it remains a challenge to distinguish the correlation between these aspects and their impact on one another. To try to clarify these reciprocal influences, in this study we have used specific radio electric asymmetric conveyer (REAC) technology neuromodulation treatments for behavioral mood disorders and adjustment disorders. In particular, we employed the neuro-postural optimization (NPO) and neuro-psycho-physical optimization (NPPOs) treatments. The study enrolled randomly 50 subjects of both genders previously diagnosed with Parkinson’s disease for at least six months. Prior to and following REAC NPO and NPPOs treatments, we assessed the subjects using functional dysmetria (FD) evaluation, five times sit to stand test (FTSST) for postural stability, and the 12-item Short-Form Health Survey (SF-12) for quality of life (QLF) evaluation. The positive results produced by the REAC NPO and NPPOs neuromodulation treatments, specific for mood and adaptation disorders, on dysfunctional motor disorders, and quality of life confirm how the non-motor components can condition the symptomatology of Parkinsonian motor symptoms. These results also highlight the usefulness of REAC NPO and NPPOs treatments in improving the overall quality of life of these patients. Full article

Fibromyalgia syndrome (FS) is a disorder characterized by widespread musculoskeletal pain and psychopathological symptoms, often associated with central pain modulation failure and dysfunctional adaptive responses to environmental stress. The Radio Electric Asymmetric Conveyer (REAC) technology is a neuromodulation technology. The aim of this study was to evaluate the effects of some REAC treatments on psychomotor responses and quality of life in 37 patients with FS. Tests were conducted before and after a single session of Neuro Postural Optimization and after a cycle of 18 sessions of Neuro Psycho Physical Optimization (NPPO), using evaluation of the functional dysmetria (FD) phenomenon, Sitting and Standing (SS), Time Up and Go (TUG) tests for motor evaluation, Fibromyalgia Impact Questionnaire (FIQ) for quality of life. The data were statistically analyzed, and the results showed a statistically significant improvement in motor response and quality of life parameters, including pain, as well as reduced FD measures in all participants. The study concludes that the neurobiological balance established by the REAC therapeutic protocols NPO and NPPO improved the dysfunctional adaptive state caused by environmental and exposomal stress in FS patients, leading to an improvement in psychomotor responses and quality of life. The findings suggest that REAC treatments could be an effective approach for FS patients, reducing the excessive use of analgesic drugs and improving daily activities. Full article

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. Non-invasive neuromodulation techniques, such as radioelectric asymmetric conveyer (REAC) technology, have gained attention for their potential to improve the endogenous bioelectric activity (EBA) and neurobiological processes underlying ASD. Neuro Postural Optimization (NPO) and Neuro Psycho Physical Optimization (NPPO) treatments are non-invasive and painless neuromodulation treatments that utilize REAC technology and have shown promising results in improving the symptoms of ASD. This study aimed to evaluate the effects of NPO and NPPO treatments on functional abilities in children and adolescents with ASD using the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT). The study consisted of 27 children and adolescents with ASD who underwent a single session of NPO followed by 18 sessions of NPPO treatment over a period of one week. The results showed significant improvements in the children’s and adolescents’ functional abilities across all domains of the PEDI-CAT. These findings suggest that NPO and NPPO may be effective treatments for improving functional abilities in children and adolescents with ASD. Full article

Background: Chronic post-herpetic neuralgia (CPHN) is a symptomatic condition that afflicts adults and elderly individuals. The chronicity of this symptomatology can be conditioned by the epigenetic modifications induced by the virus on the processes of neurotransmission and sensitivity to pain. The aim of this study is to investigate whether manipulating endogenous bioelectrical activity (EBA), responsible for neurotransmission processes and contributing to the induction of epigenetic modifications, can alleviate pain symptoms. Methods: This manipulation was carried out with the antalgic neuromodulation (ANM) treatment of radioelectric asymmetric conveyer (REAC) technology. Pain assessment before and after treatment was performed using a numerical analog scale (NAS) and a simple descriptive scale (SDS). Results: The results of the analysis showed an over four-point decrease in NAS scale score and over one point decrease in SDS scale score, with a statistical significance for both tests of p < 0.005. Conclusions: The results obtained in this study demonstrate how REAC ANM manipulation of EBA can lead to improvement in epigenetically conditioned symptoms such as CPHN. These results should prompt further research to expand knowledge and ensure optimized therapeutic outcomes. Full article