The Genetics of Inflammatory Bowel Disease
AbstractThe genetic background of inflammatory bowel disease, both Crohn ’s disease and ulcerative colitis, has been known for more than 2 decades. In the last 20 years, genome-wide association studies have dramatically increased our knowledge on the genetics of inflammatory bowel disease with more than 200 risk genes having been identified. Paralleling this increasin g knowledge, the armamentarium of inflammatory bowel disease medications has been growing constantly. With more available therapeutic options, treatment decisions become more complex, with still many patients experiencing a debilitating disease course and ...
Source: Molecular Diagnosis and Therapy - October 17, 2023 Category: Molecular Biology Source Type: research
Predictive Ability of Serum Amino Acid Levels to Differentiate Fibromyalgia Patients from Healthy Subjects
ConclusionsOur results show an imbalance in serum levels of most AAs in patients with fibromyalgia, which suggest a metabolic disturbance. The determination of serum levels of these AAs may aid in the diagnosis of fibromyalgia, in combination with clinical data of the patient. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 16, 2023 Category: Molecular Biology Source Type: research
MicroRNAs Function in Dental Stem Cells as a Promising Biomarker and Therapeutic Target for Dental Diseases
AbstractUndifferentiated, highly proliferative, clonogenic, and self-renewing dental stem cells have paved the way for novel approaches to mending cleft palates, rebuilding lost jawbone and periodontal tissue, and, most significantly, recreating lost teeth. New treatment techniques may be guided by a better understanding of these cells and their potential in terms of the specificity of the regenerative response. MicroRNAs have been recognized as an essential component in stem cell biology due to their role as epigenetic regulators of the processes that determine stem cell destiny. MicroRNAs have been proven to be crucial...
Source: Molecular Diagnosis and Therapy - September 29, 2023 Category: Molecular Biology Source Type: research
Steps to Improve Precision Medicine in Epilepsy
AbstractPrecision medicine is an old concept, but it is not widely applied across human health conditions as yet. Numerous attempts have been made to apply precision medicine in epilepsy, this has been based on a better understanding of aetiological mechanisms and deconstructing disease into multiple biological subsets. The scope of precision medicine is to provide effective strategies for treating individual patients with specific agent(s) that are likely to work best based on the causal biological make-up. We provide an overview of the main applications of precision medicine in epilepsy, including the current limit...
Source: Molecular Diagnosis and Therapy - September 27, 2023 Category: Molecular Biology Source Type: research
Oxidative Stress and Potential Antioxidant Therapies in Vitiligo: A Narrative Review
AbstractVitiligo is a chronic skin disorder characterised by the loss of melanocytes and subsequent skin depigmentation. Although many theories have been proposed in the literature, none alone explains the pathogenesis of vitiligo. Oxidative stress has been identified as a potential factor in the pathogenesis of vitiligo. A growing body of evidence suggests that antioxidant therapies may offer a promising approach to managing this condition. This review summarises the potential mechanisms of oxidative stress and the types of melanocyte death in vitiligo. We also provide a brief overview of the most commonly studied antioxi...
Source: Molecular Diagnosis and Therapy - September 22, 2023 Category: Molecular Biology Source Type: research
Cell Therapy of Severe Ischemia in People with Diabetic Foot Ulcers —Do We Have Enough Evidence?
AbstractThis current opinion article critically evaluates the efficacy of autologous cell therapy (ACT) for chronic limb-threatening ischemia (CLTI), especially in people with diabetes who are not candidates for standard revascularization. This treatment approach has been used in ‘no-option’ CLTI in the last two decades and more than 1700 patients have received ACT worldwide. Here we analyze the level of published evidence of ACT as well as our experience with this treatment method. Many studies have shown that ACT is safe and an effective method for patients with the mo st severe lower limb ischemia. However, some tri...
Source: Molecular Diagnosis and Therapy - September 22, 2023 Category: Molecular Biology Source Type: research
Optimizing CAR-T Therapy for Glioblastoma
AbstractChimeric antigen receptor T-cell therapies have transformed the management of hematologic malignancies but have not yet demonstrated consistent efficacy in solid tumors. Glioblastoma is the most common primary malignant brain tumor in adults and remains a major unmet medical need. Attempts at harnessing the potential of chimeric antigen receptor T-cell therapy for glioblastoma have resulted in glimpses of promise but have been met with substantial challenges. In this focused review, we discuss current and future strategies being developed to optimize chimeric antigen receptor T cells for efficacy in patients with g...
Source: Molecular Diagnosis and Therapy - September 12, 2023 Category: Molecular Biology Source Type: research
Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes
ConclusionsNIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 9, 2023 Category: Molecular Biology Source Type: research
Equecabtagene Autoleucel: First Approval
This article summarizes the milestones in the development of equecabtagene autoleucel leading to this first approval in patients with RRMM who have progressed after multiple lines of therapy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 2, 2023 Category: Molecular Biology Source Type: research
Personalized Cancer Monitoring Assay for the Detection of ctDNA in Patients with Solid Tumors
ConclusionsThe Invitae Personalized Cancer Monitoring assay, featuring a flexible patient-specific panel design with 18 –50 variants, demonstrated high sensitivity and specificity for detecting ctDNA at variant allele frequencies as low as 0.008%. This assay may support patient prognostic stratification, provide real-time data on therapy responses, and enable early detection of residual/recurrent disease. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 26, 2023 Category: Molecular Biology Source Type: research
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC
ConclusionsOur study mapped the multiomics of copy number variation, methylation and mRNA level changes in tumor and normal tissues of clear cell renal cell carcinoma with VHL syndrome, which provides a solid foundation for the mechanistic study, biomarker screening, and therapeutic target discovery of clear cell renal cell carcinoma. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 16, 2023 Category: Molecular Biology Source Type: research
Application of Nanopore Sequencing in the Diagnosis and Treatment of Pulmonary Infections
We examined the emergence and advancements of nanopore sequencing as a significant player in this field. We illustrate the challenges faced in diagnosing mixed infection s and further scrutinize the use of nanopore sequencing in the identification of single pathogens, including viruses (with a focus on its use in epidemiology, outbreak investigation, and viral resistance), bacteria (emphasizing 16S targeted sequencing, rare bacterial lung infections, and antimicrobi al resistance studies), fungi (employing internal transcribed spacer sequencing), tuberculosis, and atypical pathogens. Furthermore, we discuss the role of nan...
Source: Molecular Diagnosis and Therapy - August 11, 2023 Category: Molecular Biology Source Type: research
Single-Cell Sequencing in Neurodegenerative Disorders
AbstractNeurodegenerative disorders are typically characterized by late onset progressive damage to specific (sub)populations of cells of the nervous system that are essential for mobility, coordination, strength, sensation, and cognition. Addressing this selective cellular vulnerability has become feasible with the emergence of single-cell-omics technologies, which now represent the state-of-the-art approach to profile heterogeneity of complex tissues including human post-mortem brain at unprecedented resolution. In this review, we briefly recapitulate the experimental workflow of single-cell RNA sequencing and summarize ...
Source: Molecular Diagnosis and Therapy - August 8, 2023 Category: Molecular Biology Source Type: research
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
ConclusionThis work, representing a comprehensive genetic study, expanded theCYP21A2 variants spectrum of Italian patients with 21OHD and could be helpful in prenatal diagnosis and genetic counseling. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 7, 2023 Category: Molecular Biology Source Type: research
Multicenter Performance Evaluation of the Revogene ® GBS DS Real-Time PCR Assay for Group B Streptococcus Detection During Labor
ConclusionThe easy-to-use Revogene® GBS DS assay provides a valuable tool for the detection of GBS colonization at the beginning of labor. The sensitivity and turn-around time are adequate. The high number of invalid results needs to be addressed before the Revogene® GBS DS test can be expected to replace the current screening-based approach. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 20, 2023 Category: Molecular Biology Source Type: research
