De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Comparing carbon agronomic footprint and sequestration in Central American coffee agroforestry systems and assessing trade-offs with economic returns.

Agricultural systems are both emitters of greenhouse gases and have the potential to sequester carbon, especially agroforestry systems. Coffee agroforestry systems offer a wide range of intensities of use of agricultural inputs and densities and management of shade trees. We assessed the agronomic carbon footprint (up to farm gate) and modelled the carbon sequestration of a range of coffee agroforestry systems across 180 farms in Costa Rica and Guatemala.

Patients with dementia: prevalence and type of drug-drug interactions.

Background: Patients with Alzheimer's disease (AD) and other dementias are more frequently exposed to polymedication, mainly due to the presence of comorbidities, are particularly vulnerable to drug-related problems, and present greater risk of adverse effects due to drug-drug interactions (DDIs).

Purpose: To assess the prevalence of clinically relevant interactions in dementia patients using a routine database, we describe the most frequent interactions and risk factors associated with them to facilitate specific interventions and programs to prevent and minimize them.

Methods: An observational, descriptive, and cross-sectional study that included patients with AD and other types of dementia (n = 100, 64% female) was conducted to identify potential DDI in their treatment using the Lexi-Interact/Lexicomp database.

A Descriptive Review of the Antioxidant Effects and Mechanisms of Action of Berberine and Silymarin.

Oxidative stress is a key factor in the development of chronic diseases such as type 2 diabetes, cardiovascular diseases, and liver disorders. Antioxidant therapies that target oxidative damage show significant promise in preventing and treating these conditions. Berberine, an alkaloid derived from various plants in the family, enhances cellular defenses against oxidative stress through several mechanisms.

A Survey of Preferences for Ceramic Materials on Tooth-Supported Crowns Among Dental Practitioners in Chile.

Purpose: To evaluate the preferences of dental practitioners for tooth-supported crowns dental ceramics by means of an online survey and to assess the influence of age, gender, years of experience, and dental specialty on those preferences. Materials and Methods: An anonymous questionnaire was delivered online through Google Surveys, targeting 796 dentists. It contained 17 dichotomous, closed questions with two sections.