Overview of latest articles and publications on gene therapy in PubMed, including Human Gene Therapy, Journal of Molecular Medicine and Journal of Gene Medicine. PubMed is a service of the US National Library of Medicine that includes over 18 million citations from MEDLINE and other life science journals.

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• Artificial intelligence for personalized nanomedicine; from material selection to patient outcomes Sun, 08 Dec 2024 06:00:00 -0500
  Applying artificial intelligence (AI) to nanomedicine has greatly increased the production of specially engineered nanoscale materials for tailored medicine, marking a significant advancement in healthcare. With the use of AI, researchers can search through massive databases and find nano-properties that support a range of therapeutic objectives, eventually producing safer, customized nanomaterials. AI analyzes patient data, including clinical and genetic information, to predict results for...


• Obstructive hypertrophic cardiomyopathy: from genetic insights to a multimodal therapeutic approach with mavacamten, aficamten, and beyond Sat, 07 Dec 2024 06:00:00 -0500
  CONCLUSIONS: The introduction of cardiac myosin inhibitors heralds a new era in the management of oHCM. By directly targeting the molecular mechanisms underpinning the disease, these novel therapies offer improved symptom relief and functional outcomes. Ongoing research into the genetic basis of HCM and the development of targeted treatments holds promise for further enhancing patient care. Future studies should continue to refine these therapeutic strategies and explore their long-term benefits...


• Molecular testing of gastrointestinal tumours - current status and future prospects Sat, 07 Dec 2024 06:00:00 -0500
  In addition to the histological diagnosis, grade and stage, predictive testing plays a crucial role in gastrointestinal tumours today. This is mainly used to identify molecular targets for modern cancer therapy. In esophageal and gastric cancers, HER2 expression and amplification, mismatch repair (MMR) system protein deficiency and PD-L1 expression are tested routinely. In colorectal cancer, it is namely detection of RAS (KRAS and NRAS) and BRAF mutations, as well as the assessment of...


• Ambulatory care of patients with arteriopathies: Overview for vascular medicine advanced practice providers Sat, 07 Dec 2024 06:00:00 -0500
  Arteriopathies are a group of vascular disorders that encompass arterial dissection, aneurysm, and tortuosity that may or may not have an identifiable cause. Given the varied clinical presentations and underlying disorders of patients with arteriopathies, clinicians must develop a wide range of tools to care for these patients, including a focused history, physical examination, diagnostic imaging, medical and surgical therapies, genetic testing, and education. The vascular medicine clinic is one...


• Burden of disease scenarios by state in the USA, 2022-50: a forecasting analysis for the Global Burden of Disease Study 2021 Sat, 07 Dec 2024 06:00:00 -0500
  BACKGROUND: The capacity to anticipate future health issues is important for both policy makers and practitioners in the USA, as such insights can facilitate effective planning, investment, and implementation strategies. Forecasting trends in disease and injury burden is not only crucial for policy makers but also garners substantial interest from the general populace and leads to a better-informed public. Through the integration of new data sources, the refinement of methodologies, and the...


• New drugs for treating dyslipidemias. From small molecules to small interfering RNAs Sat, 07 Dec 2024 06:00:00 -0500
  Despite the various therapeutic tools available, many patients do not achieve therapeutic goals, and cardiovascular diseases remain a significant cause of death in our setting. Furthermore, even in patients who manage to reduce their LDL-C levels to the recommended targets, cardiovascular events continue to occur. The therapeutic challenge and the persistent risk have led to active research into new drugs targeting novel therapeutic pathways in the field of lipoprotein metabolism disorders. The...


• Reactive oxygen species: Janus-faced molecules in the era of modern cancer therapy Sat, 07 Dec 2024 06:00:00 -0500
  Oxidative stress, that is, an unbalanced increase in reactive oxygen species (ROS), contributes to tumor-induced immune suppression and limits the efficacy of immunotherapy. Cancer cells have inherently increased ROS production, intracellularly through metabolic perturbations and extracellularly through activation of NADPH oxidases, which promotes cancer progression. Further increased ROS production or impaired antioxidant systems, induced, for example, by chemotherapy or radiotherapy, can...


• Chitosan nanoparticles loaded with metformin and digoxin synergistically inhibit MCF-7 breast cancer cells through suppression of NOTCH-1 and HIF-1alpha gene expression Sat, 07 Dec 2024 06:00:00 -0500
  This study investigated the potential anticancer efficacy of co-treating the MCF-7 breast cancer cell line with chitosan nanoparticles (Cs NPs) loaded with metformin (Met) and digoxin (Dig). The Cs NPs had a size range of 90.6-148.7 nm and a zeta potential of +11.7 to +11.9 mV, indicating a positive surface charge. Notably, the Cs NPs demonstrated high encapsulation efficiencies, with values of 90.97 ± 5.14 % for Met and 92.12 ± 3.81 % for Dig, indicating effective loading of both drugs. The...


• Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy Sat, 07 Dec 2024 06:00:00 -0500
  Parkinson's disease is a progressive neurodegenerative disorder that predominantly affects motor function due to the loss of dopaminergic neurons in the substantia nigra. It presents significant challenges, impacting millions worldwide with symptoms such as tremors, rigidity, bradykinesia, and postural instability, leading to decreased quality of life and increased morbidity. The pathogenesis of Parkinson's disease is multifaceted, involving complex interactions between genetic susceptibility,...


• Ankylosing spondylitis: From pathogenesis to therapy Sat, 07 Dec 2024 06:00:00 -0500
  Ankylosing spondylitis (AS) is an autoimmune rheumatic disease that primarily affects the axial joints, with its etiology complex and still not fully understood. The unknown pathogenesis of AS limits the development of treatment strategies, so keeping up-to-date with the current research on AS can help in searching for potential therapeutic targets. In addition to the classic HLA-B27 genetic susceptibility and Th17-related inflammatory signals, increasing research is focusing on the influence of...


• Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency Sat, 07 Dec 2024 06:00:00 -0500
  Though it has no catalytic activity toward GM2 ganglioside, the GM2 activator protein (GM2A) is essential for ganglioside hydrolysis by facilitating the action of lysosomal ß-N-acetylhexosaminidase. GM2A deficiency results in death in early childhood due to rapid central nervous system deterioration similar to the related GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease. This manuscript further characterizes a feline model of GM2A deficiency with a focus on clinical and biochemical...


• Protocol for chemogenetic activation of basal ganglia D1-MSNs and behavioral assessments in a primate Parkinson's disease model Sat, 07 Dec 2024 06:00:00 -0500
  A circuit-based gene therapy strategy for Parkinson's disease (PD) has been shown to significantly reverse core symptoms in both murine and primate PD models. Here, we present a comprehensive workflow to specifically manipulate dopamine receptor D(1)-expressing medium spiny neurons by retrograde adeno-associated virus (AAV) transduction and chemogenetic activation using a designer toolkit. We describe steps for AAV injections and PD primate model induction. We then detail behavioral measurements...


• Gut microbiota profiles of patients with idiopathic pulmonary fibrosis Sat, 07 Dec 2024 06:00:00 -0500
  Purpose/Aim: Idiopathic pulmonary fibrosis (IPF) is the most common idiopathic interstitial pneumonia. Multiple genetic factors, environmental exposures, micro-aspirations secondary to gastroesophageal reflux, age, sex, smoking habit, and infections contribute to its etiology; consequently, its pathogenesis remains unclear. The homeostasis of gut microbiota, including bacteria, archaea, and fungi, can influence the functions of both the intestine and remote organs. There are still many unknowns...


• Human papillomavirus E6 alters Toll-like receptor 9 transcripts and chemotherapy responses in breast cancer cells in vitro Sat, 07 Dec 2024 06:00:00 -0500
  CONCLUSION: HPV16 may influence breast cancer cell TLR9 transcription and chemotherapy responses and could thereby affect breast cancer prognosis. These results suggest that HPV may have a previously unrecognized role in breast cancer pathophysiology and warrant further studies on the topic.


• Cognitive and ataxic adverse events following entrectinib treatment in NTRK1 fusion gene-positive intrahepatic cholangiocarcinoma: a case report Sat, 07 Dec 2024 06:00:00 -0500
  We report the rare case of severe cognitive disorder and ataxia caused by entrectinib in a patient with NTRK1 fusion gene-positive intrahepatic cholangiocarcinoma. The case was a 56-year-old woman after nine courses of GCS therapy. The patient experienced grade 1 muscle weakness on day 4 and grade 3, cognitive disorder on day 7 after receiving entrectinib, which led to hospitalization. The symptoms were reversible and tended to improve after withdrawal of entrectinib. It is crucial to increase...


• DNA hypermethylation of tumor suppressor genes among oral squamous cell carcinoma patients: a prominent diagnostic biomarker Sat, 07 Dec 2024 06:00:00 -0500
  Oral Squamous Cell Carcinoma is a globally revealing form of oral malignancy. Epigenetics, which studies genetic modifications in gene expression without altering the sequence of DNA, is crucial for understanding OSCC. Key epigenetic modifications such as histone modifications, DNA methylation, and microRNA regulation play significant roles in Oral carcinoma. Aberrant methylation of DNA of tumor suppressor genes which leads to their inactivation, promoting cancer development, and specific...


• Clinical relevance of feto-maternal microchimerism in (hematopoietic stem cell) transplantation Sat, 07 Dec 2024 06:00:00 -0500
  Toleration of a semi-allogeneic fetus in the mother's uterus as well as tolerance after allogeneic hematopoietic stem cell transplantation (HSCT) appear to share some immunologic concepts. The existence of microchimeric cells, and the original idea of a bidirectional cell trafficking between mother and child during pregnancy have been known for decades. Today, origins and mechanisms of persistence of microchimeric cells are intensively being elucidated. Both, the translation of the phenomenon of...


• CRISPR-Cas9 screening identified novel subtypes of cutaneous melanoma based on essential cancer genes Sat, 07 Dec 2024 06:00:00 -0500
  Our primary objective was to identify genes critical for cutaneous melanoma (CM) and related typing, based on essential genes, to generate novel insights for clinical management and immunotherapy of patients with CM. We analyzed RNA sequencing (RNA-seq) data from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx), and sequencing data of 29 CM cell line from Cancer Cell Line Encyclopedia (CCLE) databases. Combined with DepMap database, 406 CM essential cancer genes were finally...


• Neonatal Chronic Granulomatous Disease With Septic Arthritis and Osteomyelitis: Diagnostic and Therapeutic Challenge With Literature Review Sat, 07 Dec 2024 06:00:00 -0500
  This case report underlines the diagnostic and therapeutic dilemmas in a 19-day-old neonate who had presented with features suggestive of chronic granulomatous disease (CGD). The baby had a history of fever, lethargy, and masses on the skin, for which an extensive diagnostic workup was needed to rule out infective etiology given no improvement with initial empiric therapy. Laboratory investigations, including imaging and genetic studies, confirmed the diagnosis of CGD. In addition to the very...


• Cell-Specific Control of Mammalian Gene Expression Using DNA Repair Inducible Ribozyme Switches Sat, 07 Dec 2024 06:00:00 -0500
  The ability to control gene expression is vital for elucidating gene functions and developing next-generation therapeutics. Current techniques are challenged by the lack of cell-specific control designs or immunogenicity risk from foreign proteins. We develop a DNA repair inducible ribozyme switch that enables cell-specific control of gene expression in cells and in vivo. This strategy designs plasmids with a DNA lesion (8-oxoG and O6-MeG) site-specifically installed within the ribozyme encoding...