Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

Enhancing Cognition in Older Adults with Mild Cognitive Impairment through High-Intensity Functional Training: A Single-Blind Randomized Controlled Trial.

Physical exercise is a very promising non-pharmacological approach to prevent or reduce the cognitive decline that occurs in people aged 60 years or older. The objective of this study was to determine the effect of a high-intensity intervallic functional training (HIFT) program on cognitive functions in an elderly Colombian population with mild cognitive impairment. A controlled clinical trial was developed with a sample of 132 men and women aged >65 years, linked to geriatric care institutions, which were systematically blind randomized. The intervention group (IG) received a 3-month HIFT program (n = 64) and the control group (CG) (n = 68) received general physical activity recommendations and practiced manual activities. The outcome variables addressed cognition (MoCA), attention (TMTA), executive functions (TMTB), verbal fluency (VFAT test), processing speed (Digit Symbol Substitution Test-DSST), selective attention and concentration (d2 test). After the analysis, improvement was found in the IG with significant differences with respect to the CG in the level of cognitive impairment (MoCA), attention (TMTA), verbal fluency and concentration (p < 0.001). Executive functions (TMTB) showed differences in both groups, being slightly higher in the IG (p = 0.037). However, no statistically significant results were found for selective attention (p = 0.55) or processing speed (p = 0.24). The multiple analysis of covariance (MANCOVA) showed the influence of the education level on all cognition assessments (p = 0.026); when adjusting for sociodemographic variables, the influence of the intervention remained significant (p < 0.001). This study empirically validates that the implementation of a HIFT program has a positive effect on cognitive functions in elderly people with mild cognitive impairment. Therefore, professionals specialized in the care of this population could consider including functional training programs as an essential part of their therapeutic approaches. The distinctive features of this program, such as its emphasis on functional training and high intensity, appear to be relevant for stimulating cognitive health in the geriatric population.

Effects of High-Intensity Functional Training (HIFT) on the Functional Capacity, Frailty, and Physical Condition of Older Adults with Mild Cognitive Impairment: A Blind Randomized Controlled Clinical Trial.

Physical exercise has been established as an intervention in the integral approach for the physical, functional, and social health of older adults. The objective of this study was to determine the effects of a high-intensity functional training (HIFT) program on the physical condition and functional capacity of an elderly Colombian population with mild cognitive impairment. This research corresponds to a blind randomized controlled clinical trial. A total of 169 men and women aged over 65 years were evaluated and distributed in two groups: the experimental group that received a 12-week HIFT intervention (n = 82) and the control group (n = 87) that received general recommendations on the benefits of physical exercise. The outcome variables included physical condition, assessed using the Senior Fitness battery (SNB); Fried's frailty phenotype was applied, and gait and balance were assessed using the Tinetti scale. For the functional variables, activities of daily living, instrumental activities of daily living, and advanced activities of daily living were evaluated. All variables were measured pre- and post-intervention. Statistically significant improvements were observed in the IG for gait stability and balance (p < 0.001), as well as for independence in activities of daily living (p = 0.003), and instrumental and advanced activities (p < 0.001). Likewise, greater functionality was found when assessed with the SNB (p < 0.001), except for upper limb strength. The frailty classification did not show changes post-intervention (p = 0.170) nor in the group x time interaction. MANCOVA analysis showed that regardless of gender, health level, age, BMI, cognition, and health level, the HIFT intervention produced better results in functional capacity, balance, and gait (F = 0.173, p < 0.001, Wilks' λ = 88.231).

Effects of Myofascial Release Using Finding-Oriented Manual Therapy Combined with Foam Roller on Physical Performance in University Athletes. A Randomized Controlled Study.

Sport is a science of constant reinvention that is always searching for strategies to improve performance. Objective: This study seeks to compare the effects of myofascial release with Findings-Oriented Orthopedic Manual Therapy (OMT) combined with Foam Roller (FR), versus FR by itself, on the physical performance of university athletes. A randomized controlled study was conducted with a total of twenty-nine university athletes, measuring Range of Motion (ROM), jump height and flight time, strength and dynamic flexibility using Goniometer pro, CMJ protocol in OptoGait, 1 Repetition Maximum (1RM) and Mean Propulsive Velocity (MPV) and the Sit and Reach (V) test, correspondingly. This study was registered at clinicaltrials.gov prior to the initial measurement of the participants under the code NCT05347303. Through a univariate analysis, together with an analysis of independent groups with ANOVA and an analysis of covariance, it was evidenced that OMT combined with FR generated more and better effects in all the evaluated ROM, jump height and flight time, RM and VMP tests. Finally, it was found that OMT combined with FR is better when it is desired to improve ROM, muscle power, strength and flexibility, while FR alone only improves dynamic flexibility.

Clinical Profile, Systemic Association, Treatment and Visual Outcome of Patients with Scleritis in an Eye Care Center in Mexico City.

AIMS: To describe demographic and clinical characteristics as well as etiologies and visual outcomes of patients with scleritis. METHODS: This is a descriptive, observational and retrospective study. We reviewed the electronic health records of patients with diagnosis of scleritis, who presented at the Institute of Ophthalmology Conde de Valenciana from January 2009 to December 2019. RESULTS: The cohort consisted of 162 patients with mean follow-up of 33.7 months. Mean age of scleritis presentation was 53.8 years. The most common type of scleritis was anterior nodular in 67 patients (41.3%). Most cases were idiopathic (52.4%). Visual outcomes were worse in anterior necrotizing scleritis. The most used drugs were oral NSAIDs and corticosteroids. CONCLUSION: The visual outcome in most patients is favorable, however it depends on scleritis type and etiology, with worse prognosis in anterior necrotizing scleritis forms and associated with autoimmune or systemic diseases.

Against the Odds: Hybrid Zones between Mangrove Killifish Species with Different Mating Systems.

Different mating systems are expected to affect the extent and direction of hybridization. Due to the different levels of sexual conflict, the weak inbreeder/strong outbreeder (WISO) hypothesis predicts that gametes from self-incompatible (SI) species should outcompete gametes from self-compatible (SC) ones. However, other factors such as timing of selfing and unilateral incompatibilities may also play a role on the direction of hybridization. In addition, differential mating opportunities provided by different mating systems are also expected to affect the direction of introgression in hybrid zones involving outcrossers and selfers. Here, we explored these hypotheses with a unique case of recent hybridization between two mangrove killifish species with different mating systems, Kryptolebias ocellatus (obligately outcrossing) and K. hermaphroditus (predominantly self-fertilizing) in two hybrid zones in southeast Brazil. Hybridization rates were relatively high (~20%), representing the first example of natural hybridization between species with different mating systems in vertebrates. All F1 individuals were sired by the selfing species. Backcrossing was small, but mostly asymmetrical with the SI parental species, suggesting pattern commonly observed in plant hybrid zones with different mating systems. Our findings shed light on how contrasting mating systems may affect the direction and extent of gene flow between sympatric species, ultimately affecting the evolution and maintenance of hybrid zones.

High hydrostatic pressure treatments trigger de novo carotenoid biosynthesis in papaya fruit (Carica papaya cv. Maradol).

High hydrostatic pressure (HHP) processing is a non-thermal technology reported to increase desirable metabolites in plant foods. This work evaluated changes in carotenoid accumulation in fresh-cut papaya fruit as affected by HHP treatment (50-400 MPa for 3-60 min) and during subsequent storage at 4 °C; simultaneously, transcriptional activities of carotenoid biosynthetic genes and oxidative stress markers were evaluated. LC-MS analyses revealed that HHP treatment increased carotenoid precursors and carotenes contents following processing and storage: lycopene levels increased up to 11-fold compared to the non-treated samples, and H2O2 and lipid peroxidation were concomitantly increased. qRT-PCR of intact RNA showed that the amount of phytoene desaturase transcripts increased after HHP treatment, and that they were correlated with carotene accumulation. This is the first study to show that HHP treatment triggers de novo carotenoid biosynthesis, which is regulated at the transcriptional level, possibly by inducing oxidative stress signaling in fruit tissue.

Seasonal Variation in Vitamin D in Association with Age, Inflammatory Cytokines, Anthropometric Parameters, and Lifestyle Factors in Older Adults.

Vitamin D deficiency is present even in sunny regions. Ageing decreases pre-vitamin D production in the skin and is associated with altered cytokine profile. We performed a multivariate analysis considering lifestyle factors, anthropometric, and inflammatory markers according to seasonal variation in Mexican healthy older adults. The same cohort was followed during 12 months. Vitamin D deficiency/insufficiency was found in 91.3% of the subjects despite living in appropriate latitude (25°40'0″N). 25(OH)D levels remained below <30 ng/mL through all seasons. Vitamin D deficiency did not correlate to sun exposure or dietary intake. Gender was the strongest associated factor, explaining a variance of 20%. Waist circumference (WC) greater than 88 cm was a risk factor for vitamin D deficiency. Age (>74 years) combined with WC (>88 cm) and BMI (>32.7) showed a high probability (90%) of vitamin D deficiency. Remarkably, an increase in one centimeter in WC decreased 25(OH)D by 0.176 ng/mL, while an increase in one point BMI decreased 25(OH)D by 0.534 ng/mL. A cutoff point of 74 years of age determined probability of vitamin D hipovitaminosis. Vitamin D deficiency was correlated with TNF-α serum levels, possibly increasing the susceptibility of older adults to a proinflammatory state and its related diseases.

Avocado fruit maturation and ripening: dynamics of aliphatic acetogenins and lipidomic profiles from mesocarp, idioblasts and seed.

BACKGROUND: Avocado fruit contains aliphatic acetogenins (oft-acetylated, odd-chain fatty alcohols) with promising bioactivities for both medical and food industries. However, we have scarce knowledge about their metabolism. The present work aimed to study changes in acetogenin profiles from mesocarp, lipid-containing idioblasts, and seeds from 'Hass' cultivar during fruit development, germination, and three harvesting years. An untargeted LC-MS based lipidomic analysis was also conducted to profile the lipidome of avocado fruit in each tissue. RESULTS: The targeted analysis showed that acetogenin profiles and contents remained unchanged in avocado mesocarp during maturation and postharvest ripening, germination, and different harvesting years. However, a shift in the acetogenin profile distribution, accompanied with a sharp increase in concentration, was observed in seed during early maturation. Untargeted lipidomics showed that this shift was accompanied with remodeling of glycerolipids: TAGs and DAGs decreased during fruit growing in seed. Remarkably, the majority of the lipidome in mature seed was composed by acetogenins; we suggest that this tissue is able to synthesize them independently from mesocarp. On the other hand, lipid-containing idioblasts accumulated almost the entire acetogenin pool measured in the whole mesocarp, while only having 4% of the total fatty acids. The lipidome of this cell type changed the most when the fruit was ripening after harvesting, TAGs decreased while odd-chain DAGs increased. Notably, idioblast lipidome was more diverse than that from mesocarp. CONCLUSIONS: Evidence shown here suggests that idioblasts are the main site of acetogenin biosynthesis in avocado mesocarp. This work unveiled the prevalence of aliphatic acetogenins in the avocado fruit lipidome and evidenced TAGs as initial donors of the acetogenin backbones in its biosynthesis. It also sets evidence for acetogenins being included in future works aimed at characterizing the avocado seed, as they are a main component of their lipidome.

Association of Irisin Plasma Levels with Anthropometric Parameters in Children with Underweight, Normal Weight, Overweight, and Obesity.

The correlations between irisin levels, physical activity, and anthropometric measurements have been extensively described in adults with considerable controversy, but little evidence about these relationships has been found in children. The objective of this study is to correlate the plasma levels of irisin in underweight, normal weight, overweight, and obese children with anthropometric parameters and physical activity levels. A cross-sample of 40 children was divided into the following groups on the basis of body mass index (BMI) percentile. The correlations of plasma irisin levels with physical activity, anthropometric, and metabolic measurements were determined. Plasma irisin levels (ng/mL) were lower for the underweight group (164.2 ± 5.95) than for the normal weight and obese groups (182.8 ± 5.58; p < 0.05). Irisin levels correlated positively with BMI percentile (0.387), waist circumference (0.373), and fat-free mass (0.353; p < 0.05), but not with body muscle mass (-0.027). After a multiple linear regression analysis, only BMI percentile (0.564; p < 0.008) showed a positive correlation with irisin. Our results indicated no association with metabolic parameters. A negative correlation with physical activity was observed. Interrelationships among body components might influence irisin levels in children.

GridMass: a fast two-dimensional feature detection method for LC/MS.

One of the initial and critical procedures for the analysis of metabolomics data using liquid chromatography and mass spectrometry is feature detection. Feature detection is the process to detect boundaries of the mass surface from raw data. It consists of detected abundances arranged in a two-dimensional (2D) matrix of mass/charge and elution time. MZmine 2 is one of the leading software environments that provide a full analysis pipeline for these data. However, the feature detection algorithms provided in MZmine 2 are based mainly on the analysis of one-dimension at a time. We propose GridMass, an efficient algorithm for 2D feature detection. The algorithm is based on landing probes across the chromatographic space that are moved to find local maxima providing accurate boundary estimations. We tested GridMass on a controlled marker experiment, on plasma samples, on plant fruits, and in a proteome sample. Compared with other algorithms, GridMass is faster and may achieve comparable or better sensitivity and specificity. As a proof of concept, GridMass has been implemented in Java under the MZmine 2 environment and is available at http://www.bioinformatica.mty.itesm.mx/GridMass and MASSyPup. It has also been submitted to the MZmine 2 developing community.