Tatehaaning7639

Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder caused by defects in the genes involved in repairing DNA damaged by ultraviolet radiation. These defects lead to a propensity to develop skin cancer at early ages as a hallmark, and progressive neurological degeneration can be observed in around 25% of patients. Eight clinically heterogeneous groups have been identified so far (XPA to XPG and XPV). Xeroderma pigmentosum variant type (XPV) is associated with pathogenic variants in POLH on chromosome 6, and no neurological dysfunction has been seen in these cases. However, on the same chromosome, it has been shown that TREM2 is associated with some types of dementia, particularly in patients with a behavioral variant frontotemporal phenotype.

Gene mutational analysis was performed by whole-exome sequencing.

We report a case of a Caucasian woman with XP that developed behavioral and cognitive impairment at age 37. Whole-exome sequencing identified novel homozygous variants in POLH c.638C>G (p.Ser213*) and TREM2 c.154C>T (p.Arg52Cys), classifying the patient as XPV and suggesting that her frontotemporal dementia phenotype could be related to the variant in TREM2.

This paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early-onset dementia.

This paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early-onset dementia.Nowadays, nucleic acid therapy has become a promising way for the treatment of various malignant diseases. Cyclodextrin (CD)-based nucleic acid delivery systems have attracted widespread attention due to the favorable chemical structures and excellent biological properties of CD. Recently, a variety of CD-based nucleic acid delivery systems has been designed according to the different functions of CD for flexible gene therapies. In this review, the construction strategies and biomedical applications of CD-based nucleic acid delivery systems are mainly focused on. The review begins with an introduction to the synthesis and properties of simple CD-grafted polycations. Thereafter, CD-related supramolecular assemblies based on different guest components are discussed in detail. Finally, different CD-based organic/inorganic nanohybrids and their relevant functions are demonstrated. It is hoped that this brief review will motivate the delicate design of CD-based nucleic acid delivery systems for potential clinical applications.Glaucoma is an important cause of irreversible blindness, characterized by optic nerve anomalies. Increased intraocular pressure (IOP) and aging are major risk factors. Retinal ganglion cells and trabecular meshwork cells are certainly involved in the etiology of glaucoma. Glaucoma is usually a complex disease, and various genes and functions may contribute to its etiology. Among these may be genes that encode regulatory molecules. In this review, regulatory molecules including 18 transcription factors (TFs), 195 microRNAs (miRNAs), 106 long noncoding RNAs (lncRNAs), and two circular RNAs (circRNAs) that are reasonable candidates for having roles in glaucoma pathogenesis are described. The targets of the regulators are reported. Glaucoma-related features including apoptosis, stress responses, immune functions, ECM properties, IOP, and eye development are affected by the targeted genes. The targeted genes that are frequently targeted by multiple regulators most often affect apoptosis and the related features of cell death and cell survival. BCL2, CDKN1A, and TP53 are among the frequent targets of three types of glaucoma-relevant regulators, TFs, miRNAs, and lncRNAs. TP53 was itself identified as a glaucoma-relevant TF. Several of the glaucoma-relevant TFs are themselves among frequent targets of regulatory molecules, which is consistent with existence of a complex network involved in glaucoma pathogenesis.Near-infrared (NIR) light-responsive nanoparticles (NPs) of organic photosensitizers (PS) hold great promise as phototherapeutic agents for precision photoinduced cancer therapy. this website However, highly photostable PS nanoparticles with extraordinary photoconversion capacities are urgently desired to fully realize potent phototherapy. Here, NIR nonlinear organic chromophore nanoparticles (NOC-NPs) are shown as single-component PS for dually cooperative phototherapy. Upon 785 nm irradiation, excited NOC-NPs pass through intrinsic intramolecular charge transfer (ICT) channel to generate both abundant singlet oxygen and local hyperthermia, affording synergistic photodynamic therapy (PDT) and photothermal therapy (PTT) for tumor ablation. Furthermore, NOC-NPs exhibit dramatic photostability, enhanced cellular uptake, effective cytoplasmic translocation, as well as preferable tumor accumulation, further ensuring favorable in vivo singlet oxygen generation and hyperthermia for photoinduced tumor ablation. Thus, NOC-NPs may represent novel high-performance PS for synergistic photoinduced cancer therapy, providing new insights into the development of potent PS for clinical translation.People with cardiovascular disease (CVD) often contract coronavirus disease 2019 (COVID-19). However, the interaction between COVID-19 and CVD is unclear. In this systematic review, the available evidence for the crosstalk between COVID-19 and CVD and its treatment was analysed. A search was performed in the electronic databases MEDLINE and EMBASE. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infects human cells via angiotensin-converting enzyme 2. SARS-CoV-2 can cause CVD by inducing cytokine storms, creating an imbalance in the oxygen supply and demand and disrupting the renin-angiotensin-aldosterone system; SARS-CoV-2 infection can also lead to the development of CVD through the side effects of therapeutic drugs, psychological factors, and aggravation of underlying CVD. The most common CVDs caused by SARS-CoV-2 infection are acute myocardial injury, arrhythmia, and heart failure. Studies have found that there is an interaction between COVID-19 and CVD. Underlying CVD is associated with a high risk of mortality in patients with COVID-19.