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.

Piceid Octanoate Protects Retinal Cells against Oxidative Damage by Regulating the Sirtuin 1/Poly-ADP-Ribose Polymerase 1 Axis In Vitro and in rd10 Mice.

Retinitis pigmentosa is a common cause of inherited blindness in adults, which in many cases is associated with an increase in the formation of reactive oxygen species (ROS) that induces DNA damage, triggering Poly-ADP-Ribose Polymerase 1 (PARP1) activation and leading to parthanatos-mediated cell death. Previous studies have shown that resveratrol (RSV) is a promising molecule that can mitigate PARP1 overactivity, but its low bioavailability is a limitation for medical use. This study examined the impact of a synthesized new acylated RSV prodrug, piceid octanoate (PIC-OCT), in the 661W cell line against HO oxidative stress and in rd10 mice.

Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study.

Introduction: Up to 73% of individuals with autism spectrum disorder (ASD) and intellectual disability (ID) currently have prescriptions for psychotropic drugs. This is explained by a higher prevalence of medical and psychiatric chronic comorbidities, which favors polypharmacy, increasing the probability of the appearance of adverse events (AEs). These could be a preventable cause of harm to patients with ASD and an unnecessary waste of healthcare resources.

Effect of Black Garlic Consumption on Endothelial Function and Lipid Profile: A Before-and-After Study in Hypercholesterolemic and Non-Hypercholesterolemic Subjects.

Background: Black garlic is obtained from raw garlic ( L.), by a fermentation process, under humidity and heat treatment, showing a high concentration of organosulfur compounds, which have been related to benefits in the prevention or delay of cardiovascular diseases (CVDs). The objective of the research was to evaluate whether long-term consumption of black garlic improves endothelial function and lipid profile in subjects with hypercholesterolemia.

Self-Reported Medication Adherence Measured with Morisky Scales in Rare Disease Patients: A Systematic Review and Meta-Analysis.

Background: The visibility of Rare Diseases is a new challenge for society. These diseases are numerous, heterogeneous in nature and distribution, characterized by a high mortality rate but low prevalence, and usually presenting a severe evolution. Adherence to medication studies in rare diseases are uncommon, due to treatment scarcity.

Antioxidant Activity in Extracts from Family: Cardamom, Turmeric, and Ginger.

An increase in life expectancy leads to a greater impact of chronic non-communicable diseases. This is even more remarkable in elder populations, to whom these become main determinants of health status, affecting mental and physical health, quality of life, and autonomy. Disease appearance is closely related to the levels of cellular oxidation, pointing out the importance of including foods in one's diet that can prevent oxidative stress.

Ability of a Polyphenol-Rich Nutraceutical to Reduce Central Nervous System Lipid Peroxidation by Analysis of Oxylipins in Urine: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial.

Isoprostanes (IsoPs) are lipid peroxidation biomarkers that reveal the oxidative status of the organism without specifying which organs or tissues it occurs in. Similar compounds have recently been identified that can assess central nervous system (CNS) lipid peroxidation status, usually oxidated by reactive oxygen species. These compounds are the neuroprostanes (NeuroPs) derived from eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) and the F-dihomo-isoprotanes derived from adrenic acid (AdA).

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability.

Study of the Drivers of Inappropriate Use of Antibiotics in Community Pharmacy: Request for Antibiotics Without a Prescription, Degree of Adherence to Treatment and Correct Recycling of Leftover Treatment.

Introduction: The WHO considered antibiotic resistance as 1 of the 10 greatest threats to global health in 2019. The inappropriate and indiscriminate use of antibiotics, together with the lack of new therapeutic alternatives, may eradicate their effectiveness in the closest future.

Objective: The general objective is to analyze the different causes attributable to patients, providers and pharmacists that could be drivers of irrational use of antibiotics, and responsible for the appearance of bacterial resistance, in community pharmacies.

Effect of Ginger on Inflammatory Diseases.

Ulcerative colitis, Crohn's disease, rheumatoid arthritis, psoriasis, and lupus erythematosus are some of common inflammatory diseases. These affections are highly disabling and share signals such as inflammatory sequences and immune dysregulation. The use of foods with anti-inflammatory properties such as ginger () could improve the quality of life of these patients.

Role of caregivers on medication adherence management in polymedicated patients with Alzheimer's disease or other types of dementia.

Background: Alzheimer's disease (AD) and other dementia patients may have severe difficulties to ensure medication adherence due to their generally advanced age, polymedicated and multi-pathological situations as well as certain degree of cognitive impairment. Thus, the role of patient caregivers becomes crucial to warrantee treatment compliance.

Purpose: To assess the factors associated to patients and caregivers on medication adherence of patients with AD and other types of dementia as well as the degree of caregiver satisfaction with respect to treatment.

Anti-Inflammatory and Antioxidant Capacity of a Fruit and Vegetable-Based Nutraceutical Measured by Urinary Oxylipin Concentration in a Healthy Population: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial.

Oxylipins, lipid biomarkers of inflammation are considered the gold standard method to evaluate the inflammatory and antioxidant status. The aim of the present study was to investigate whether the administration of a polyphenolic extract shot in the form of a nutraceutical was able to reduce inflammation, measured in urine markers. Ninety-two participants (45 males, 47 females, age 34 ± 11 years, weight 73.

Mesoporous Silica-Based Nanoparticles as Non-Viral Gene Delivery Platform for Treating Retinitis Pigmentosa.

Background: Gene therapy is a therapeutic possibility for retinitis pigmentosa (RP), in which therapeutic transgenes are currently delivered to the retina by adeno-associated viral vectors (AAVs). Although their safety and efficacy have been demonstrated in both clinical and preclinical settings, AAVs present some technical handicaps, such as limited cargo capacity and possible immunogenicity in repetitive doses. The development of alternative, non-viral delivery platforms like nanoparticles is of great interest to extend the application of gene therapy for RP.

Potential Role of Ginger ( Roscoe) in the Prevention of Neurodegenerative Diseases.

Ginger is composed of multiple bioactive compounds, including 6-gingerol, 6-shogaol, 10-gingerol, gingerdiones, gingerdiols, paradols, 6-dehydrogingerols, 5-acetoxy-6-gingerol, 3,5-diacetoxy-6-gingerdiol, and 12-gingerol, that contribute to its recognized biological activities. Among them, the major active compounds are 6-shogaol and 6-gingerol. Scientific evidence supports the beneficial properties of ginger, including antioxidant and anti-inflammatory capacities and in contrast, a specific and less studied bioactivity is the possible neuroprotective effect.

Nanofibrous Matrix of Defined Composition Sustains Human Induced Pluripotent Stem Cell Culture.

Human induced pluripotent stem cells (hiPSCs) represent the most promising biological material for regenerative medicine applications. In this work, a 3D solid nanofibrous matrix of defined composition (Colamigel-S) consisting of 97 wt % gelatin, 2.6 wt % atelocollagen, and 0.

Biocompatibility Study of a Commercial Printed Circuit Board for Biomedical Applications: Lab-on-PCB for Organotypic Retina Cultures.

Printed circuit board (PCB) technology is well known, reliable, and low-cost, and its application to biomedicine, which implies the integration of microfluidics and electronics, has led to Lab-on-PCB. However, the biocompatibility of the involved materials has to be examined if they are in contact with biological elements. In this paper, the solder mask (PSR-2000 CD02G/CA-25 CD01, Taiyo Ink (Suzhou) Co.

Biological effects of stevia, sucralose and sucrose in citrus-maqui juices on overweight subjects.

: In the last few years there has been emerging interest in substituting added sugars from juices with other sweeteners to make them healthier. But their long-term effects have been poorly evaluated. The aim of this study is to evaluate the effect of the addition of stevia, sucralose and sucrose (control) to maqui-citrus beverages on antioxidant and inflammatory status.

Effects of a Fruit and Vegetable-Based Nutraceutical on Biomarkers of Inflammation and Oxidative Status in the Plasma of a Healthy Population: A Placebo-Controlled, Double-Blind, and Randomized Clinical Trial.

There is scientific evidence of the positive effect of polyphenols from plant foods on inflammation and oxidative status. The aim of the present study was to investigate whether treatment with a high-polyphenolic nutraceutical reduces the plasmatic concentration of certain oxidative and inflammatory biomarkers in a healthy population. One hundred and eight subjects were selected and stratified by sex in the intervention group ( = 53) and the placebo group ( = 55).

Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish.

Sight depends on the tight cooperation between photoreceptors and pigmented cells, which derive from common progenitors through the bifurcation of a single gene regulatory network into the neural retina (NR) and retinal-pigmented epithelium (RPE) programs. Although genetic studies have identified upstream nodes controlling these networks, their regulatory logic remains poorly investigated. Here, we characterize transcriptome dynamics and chromatin accessibility in segregating NR/RPE populations in zebrafish.

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating this degenerative disease.