Publications by authors named "Mariana Palma"

The use of carbohydrates in animal feed is a way to save protein in the diet. This study evaluated the effect of protein/starch ratio on the performance, hepatic metabolism, and body composition of juvenile tambaqui (Colossoma macropomum). Six isoenergetic experimental diets were formulated containing three levels of digestible protein (P: 230, 260 and 290 g kg ) and two levels of starch (S: 180 and 280 g kg ): P23S18, P23S28, P26S18, P26S28, P29S18 and P29S28.

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Black soldier fly (Hermetia illucens) larvae are used to upcycle biowaste into insect biomass for animal feed. Previous research on black soldier fly has explored the assimilation of dietary fatty acids (FAs), but endogenous FA synthesis and modification remain comparatively unexplored. This study presents a 1H/2H-NMR methodology for measuring lipid synthesis in black soldier fly larvae using diluted deuterated water (2H2O) as a stable isotopic tracer delivered through the feeding media.

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This longitudinal study aimed to analyze the influence of physical activity (PA) on the relationship between body adiposity and cardiac autonomic modulation (CAM) in women survivors of breast cancer. We collected body adiposity through electrical bioimpedance considering body fat percentage (BFP), CAM through heart rate variability (considering RMSSD, SDNN, PNN50, LF (m2), HF (m2), SD1 indexes and SD1/SD2 ratio) and PA through a questionnaire in 64 participants (58.0 ± 9.

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Seasonal weight loss (SWL), is a major limitation to animal production. In the Canary Islands, there are two dairy goat breeds with different levels of tolerance to SWL: Majorera (tolerant) and Palmera (susceptible). Our team has studied the response of these breeds to SWL using different Omics tools.

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Background/purpose: A comprehensive review of the degree of disorder in all genes in the Retinal Information Network (RetNet) Database is implicated in inherited retinal diseases (IRDs). Their association with a missense variation was evaluated.

Methods: IRD genes from RetNet were included in this study.

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Background: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. We describe and expand the genotypic and phenotypic spectrum of this disease.

Materials And Methods: This is a retrospective, observational, case series of 11 patients with pericentral retinitis pigmentosa due to variants in HGSNAT gene without a syndromic diagnosis of MPSIIIC.

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Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (, , , , ) and of the unfolded protein response () have been related to ACHM cases, while and alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the and genes.

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Purpose: The purpose of this study was to evaluate rod-mediated function with two-color dark-adapted perimetry (2cDAP) in patients with RPE65-related retinopathy treated with voretigene neparvovec-rzyl.

Methods: Following dilation and dark adaptation, 2cDAP and FST were performed. The 2cDAP was measured on an Octopus 900 perimeter (Haag-Streit) with cyan (500 nm wavelength) and red (650 nm wavelength) stimuli.

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Although breast cancer treatments reduce mortality, their adverse effects can increase depression which impacts one's quality of life (QoL). Physical activity (PA) seems to improve the QoL of breast cancer survivors (BCS). However, an unanswered question is the influence of PA on the QoL in BCS with depressive symptoms.

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Background: X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype.

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Background: Breast cancer survivors frequently present cardiac autonomic dysfunction. Physical activity (PA) has been associated with better cardiac autonomic modulation (CAM) in breast cancer survivors.

Objective: This study aimed to analyze the association between CAM and PA levels performed in different domains (work and occupation, sport and exercise, and leisure time and commuting) in breast cancer survivors.

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In this study, we analysed the impact of dietary inclusion of Chlorella vulgaris and carbohydrases on general health, redox status, immune response, liver lipids and metabolites in weaned piglets. Forty-four male piglets were allocated into four diets: control (n = 11), CH (control diet with 5% CH, n = 10), CH+R (control diet with 5% CH plus 0.005% Rovabio Excel AP, n = 10), and CH+M (control diet with 5% CH plus 0.

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Purpose: To describe the clinical phenotype and molecular diagnosis of a patient with atypical presentation of enhanced S-cone syndrome.

Methods: This is a case report of a patient who underwent best-corrected visual acuity, slit-lamp exam, fundus examination, autofluorescence, optical coherence tomography, kinetic perimetry, and full-field electroretinography. Genetic testing was performed via next-generation sequencing.

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Article Synopsis
  • Loss of function variants in the ornithine aminotransferase gene lead to high levels of ornithine, causing gyrate atrophy, with past studies showing benefits of ornithine-lowering therapies mostly in younger patients but not well understood in adults with advanced disease.
  • A case report of a 51-year-old woman treated for four years with pyridoxine and a restricted arginine diet showed a 71% reduction in ornithine levels, correlating with stabilization of her visual fields and changes in retinal structure observed through optical coherence tomography (OCT).
  • The findings suggest that even in advanced gyrate atrophy, lowering ornithine levels can stabilize disease progression, and the change in EZ thickness on OCT
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Purpose: To report on the safety of the first 5 cohorts of a gene therapy trial using recombinant equine infectious anemia virus expressing ABCA4 (EIAV-ABCA4) in adults with Stargardt dystrophy due to mutations in ABCA4.

Design: Nonrandomized multicenter phase I/IIa clinical trial.

Methods: Patients received a subretinal injection of EIAVABCA4 in the worse-seeing eye at 3 dose levels and were followed for 3 years after treatment.

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Purpose: To determine whether dilation status has a clinically meaningful effect on sensitivity in normal subjects undergoing two-color dark-adapted perimetry, which can be useful to assess rod function.

Methods: A perimeter measured naturally and pharmacologically dilated scotopic sensitivities using a test grid consisting of 16 points across the horizontal meridian ranging from 60° temporal to 45° nasal using cyan (500 nm wavelength) or red (650 nm wavelength) stimuli. The primary outcome was average overall sensitivity based on dilation status, which was compared using a linear mixed effect model for each color stimuli.

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Background: To analyze the relationship between different physical activity (PA) domains and adiposity indicators in breast cancer survivors.

Methods: This is a cross-sectional study, composed of 115 breast cancer (BC) survivors. Measurements of weight, height, waist circumference (WC), and hip circumference were objectively collected, as well as the analysis of body fat percentage through bioelectrical impedance analysis.

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In the present study, two approaches were followed to evaluate the metabolic responses of tambaqui (Colossoma macropomum), a frugivorous species, to intraperitoneal (IP) administration of glucose (GLU) and fructose (FRU) in fed (FED) and 10-day fasted (FAST) fish. Glucose and fructose tolerance tests were performed to assess the carbohydrate utilization and complementary NMR-metabolomics analyses were done to elucidate the impacts of sugar mobilization on the metabolic profile of plasma, liver and muscle. Blood was sampled from FED groups at 0, 3, 6 and 24 h; and at 0 and 24 h from FAST groups.

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Objective: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in , which typically causes visual impairment in the late stage of disease. We present a pedigree with variable expressivity and the youngest case in the literature with visual impairment in early childhood.

Methods And Analysis: This is a retrospective, observational, case series describing multigenerational members of one family affected with ADVIRC.

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Purpose: This study aimed to analyze the longitudinal influence of sitting time (ST) on cardiac autonomic modulation (CAM) and resting heart rate (RHR) in a 12-month cohort of 67 breast cancer survivors.

Methods: CAM was assessed by heart rate variability with heart monitor which also assessed RHR, and ST was self-reported. The relationship between the variables was analyzed by the Pearson correlation and its magnitude by linear regression.

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The replacement of fishmeal in aquafeeds is essential to the sustainability of aquaculture. Besides the procurement of alternative protein sources, fish can also be selected for better performance on plant-based alternative diets. Rainbow trout () is one such species in which the strain ARS- has been selected for higher growth and enhanced utilization when fed soy-based diets.

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Objectives: Treatments for breast cancer (BC) can lead to physical and mental impairments which may affect quality of life (QoL). Physical activity (PA) is highly recommended for this population due to its protective effect against BC relapse and its ability to reduce the health impact of treatment. However, it is not clear whether the different domains of PA are associated with better QoL of BC survivors.

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Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in , and .Chart review evaluating demographic, clinical, imaging, and genetic findings of 19 patients from 18 families with a clinical diagnosis of retinal disease and confirmed disease-causing variants in , or .

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