Non-communicable chronic diseases (NCDs) are most commonly characterized by age-related loss of homeostasis and/or by cumulative exposures to environmental factors, which lead to low-grade sustained generation of reactive oxygen species (ROS), chronic inflammation and metabolic imbalance. Nuclear factor erythroid 2-like 2 (NRF2) is a basic leucine-zipper transcription factor that regulates the cellular redox homeostasis. NRF2 controls the expression of more than 250 human genes that share in their regulatory regions a cis-acting enhancer termed the antioxidant response element (ARE).
View Article and Find Full Text PDFBackground: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a heterogeneous entity with either a monophasic or relapsing course. Well-established predictors of relapsing disease are lacking.
Objective: Identifying predictors of relapsing MOGAD, particularly at disease onset.
In the skin, melanin is synthesized by melanocytes within melanosomes and transferred to keratinocytes. After being phagocytosed by keratinocytes, melanin polarizes to supranuclear caps that protect against the genotoxic effects of UVR. We provide evidence that melanin-containing phagosomes undergo a canonical maturation process, with the sequential acquisition of early and late endosomal markers.
View Article and Find Full Text PDFPurpose: Inguinal hernias are highly prevalent worldwide and its surgical repair is one of the most common procedures in general surgery. The broad use of mesh has decreased the recurrence rates of inguinal hernia to acceptable levels, thus centering the attention on Quality of Life as a pivotal postoperative outcome. Carolinas Comfort Scale is a well-studied questionnaire designed to identify Quality of Life changes following hernia repair with mesh techniques.
View Article and Find Full Text PDFObjectives: The objective of this long-term retrospective study was to evaluate the fracture rate and the risk factors associated with the fracture of 3.3 mm narrow diameter implants (NDIs).
Materials And Methods: A total of 524 records of patients rehabilitated with 3.
Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy causing progressive vision loss due to mutations in the gene, leading to Rab escort protein 1 loss of function. CHM disease is characterized by a progressive degeneration of the choroid, the retinal pigment epithelium (RPE), and the retina. The RPE is a monolayer of polarized cells that supports photoreceptors, providing nutrients, growth factors, and ions, and removes retinal metabolism waste products, having a central role in CHM pathogenesis.
View Article and Find Full Text PDFThe retinal pigment epithelium (RPE) is an essential component of the retina that plays multiple roles required to support visual function. These include light onset- and circadian rhythm-dependent tasks, such as daily phagocytosis of photoreceptor outer segments. Mitochondria provide energy to the highly specialized and energy-dependent RPE.
View Article and Find Full Text PDFFront Ophthalmol (Lausanne)
September 2023
Inherited retinal diseases (IRDs) encompass a diverse group of genetic disorders that lead to progressive visual impairment and blindness. Over the years, considerable strides have been made in understanding the underlying molecular mechanisms of IRDs, laying the foundation for novel therapeutic interventions. Gene therapy has emerged as a compelling approach for treating IRDs, with notable advancements achieved through targeted gene augmentation.
View Article and Find Full Text PDFInherited retinal diseases (IRDs) stem from genetic mutations that result in vision impairment. Gene therapy shows promising therapeutic potential, exemplified by the encouraging initial results with voretigene neparvovec. Nevertheless, the associated costs impede widespread access, particularly in low-to-middle income countries.
View Article and Find Full Text PDFThe cement sector is the second largest contributor to anthropogenic CO emissions, and several efforts have been made to reduce its environmental impact. One alternative that has gained interest in recent years involves the use of municipal solid waste incineration (MSWI) bottom ash (BA) as clinker/cement replacement. This paper studies the application of MSWI BA in three different ways: (i) aggregate (0 to 100 / %), (ii) partial binder substitute (0 to 30 / %), and (iii) filler (5 / %).
View Article and Find Full Text PDFBackground: Psychiatric comorbidities are highly frequent in people with epilepsy and were found to be markers of poorer prognosis. These comorbidities increase the use of healthcare resources, including emergency department visits and inpatient care. Despite this, there is little information on healthcare utilization associated with a wide range of comorbid mental disorders in people with epilepsy (PWE).
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
August 2023
Purpose: To model the in vivo effects of chloroquine on the retinal pigment epithelium in experimentally tractable cell culture systems and determine the effects of mild chloroquine treatment on lysosome function and turnover.
Methods: Effects of low-dose chloroquine treatment on lysosomal function and accessibility to newly endocytosed cargo were investigated in primary and embryonic stem cell-derived RPE cells and ARPE19 cells using fluorescence and electron microscopy of fluorescent and gold-labeled probes. Lysosomal protein expression and accumulation were measured by quantitative PCR and Western blotting.
Skin pigmentation ensures efficient photoprotection and relies on the pigment melanin, which is produced by epidermal melanocytes and transferred to surrounding keratinocytes. While the molecular mechanisms of melanin synthesis and transport in melanocytes are now well characterized, much less is known about melanin transfer and processing within keratinocytes. Over the past few decades, distinct models have been proposed to explain how melanin transfer occurs at the cellular and molecular levels.
View Article and Find Full Text PDFPurpose: Intermediate age-related macular degeneration (iAMD) is a risk factor for progression to advanced stages, but rates of progression vary between individuals. Predicting individual risk is advantageous for programing timely and effective treatment and for patient stratification into future clinical trials.
Methods: We conducted a prospective and noninterventional study following patients with iAMD for 24 months.
Previously, we found that age-dependent accumulation of beta-amyloid is not sufficient to cause synaptic decline. Late-endocytic organelles (LEOs) may be driving synaptic decline as lysosomes (Lys) are a target of cellular aging and relevant for synapses. We found that LAMP1-positive LEOs increased in size and number and accumulated near synapses in aged neurons and brains.
View Article and Find Full Text PDFParkinson's Disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide for which there are only symptomatic therapies. Small molecules able to target key pathological processes in PD have emerged as interesting options for modifying disease progression. We have previously shown that a (poly)phenol-enriched fraction (PEF) of Corema album L.
View Article and Find Full Text PDFIntroduction: The goal of this study was to assess the impact of COVID-19 on Portuguese dental students on their depression, anxiety, temporomandibular dysfunction, academic degree, and oral behaviors.
Methods: The target of this population study was to enroll third-, fourth-, and fifth-year students of the Integrated Master's degree in Dental Medicine at the Universidade Católica Portuguesa-Faculty of Dental Medicine (Viseu, Portugal) in the academic year 2021-2022. Temporomandibular disorders (TMD) symptoms, oral behaviors, anxiety, and depression were assessed using validated questionnaires.
Alpha-synuclein (aSyn) plays a central role in Parkinson's disease (PD) and has been extensively studied in the brain. This protein is part of the synuclein family, which is also composed of beta-synuclein (bSyn) and gamma-synuclein (gSyn). In addition to its neurotoxic role, synucleins have important functions in the nervous system, modulating synaptic transmission.
View Article and Find Full Text PDFSlaker grits (SG) and biomass fly ash (BFA), two waste streams generated in the pulp and paper industry, are commonly disposed of in landfills, a practice with a high economic and environmental burden. In this work, their individual valorization as fillers in a commercial screed mortar formulation was evaluated in order to achieve a more sustainable management practice. The waste streams were characterized in terms of true density, particle size and morphology, and chemical and mineralogical composition.
View Article and Find Full Text PDFFly ash (FA) and exhausted bed sands (sands wastes) that are generated in biomass burners for energy production are two of the wastes generated in the pulp and paper industry. The worldwide production of FA biomass is estimated at 10 million tons/year and is expected to increase. In this context, the present work aims to develop one-part alkali-activated materials with biomass FA (0-100 wt.
View Article and Find Full Text PDFObjectives: To explore the features of black hyperpigmentation in macular telangiectasia (MacTel) type 2 and correlate these findings with the characteristics of hyperpigmented epiretinal membranes (ERMs) using multimodal imaging.
Methods: A case series of three patients with MacTel type 2 and hyperpigmented ERMs imaged with colour fundus photography, fluorescein angiography (FA), spectral-domain optical coherence tomography (OCT) and swept-source OCT angiography. Registration of different types of imaging was done using ImageJ v1.
Skin pigmentation is imparted by melanin and is crucial for photoprotection against UVR. Melanin is synthesized and packaged into melanosomes within melanocytes and is then transferred to keratinocytes (KCs). Although the molecular players involved in melanogenesis have been extensively studied, those underlying melanin transfer remain unclear.
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