427 research outputs found

    Pediatric glaucoma: current perspectives

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    Giorgio Marchini, Marco Toscani, Francesca Chemello Eye Clinic, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy Abstract: "Childhood glaucoma" is a heterogeneous group of severe pediatric conditions often associated with significant visual loss and characterized by elevated intraocular pressure (IOP) and optic-disk cupping. Successful IOP control is crucial but challenging and most often achieved surgically, with medical therapy playing a supportive role. There are many classifications of childhood glaucoma, but they can simply be divided into primary, in which a developmental abnormality of the anterior chamber angle only exists, and secondary, in which aqueous outflow is reduced due to independent mechanisms that secondarily impair the function of the filtration angle. The worldwide prevalence of childhood blindness ranges from 0.03% in high-income countries to 0.12% in undeveloped countries. The majority of cases do not have an identified genetic mutation and, where the mutation is known, the genes often account for only a small proportion of cases. Several pathogenetic mechanisms are known to contribute to the development of childhood glaucoma. Whatever the cause, it results in a reduced aqueous outflow at the level of the trabecular meshwork. Age of onset and magnitude of the elevated IOP largely determine the clinical manifestation the high variability of clinical manifestations. Glaucoma from any cause in a neonate and infant is characterized by the classic triad of epiphora, photophobia, and blepharospasm, and could be associated with eye enlargement (buphthalmos) and Haab striae. The eye examination, usually performed under general anesthesia, includes: tonometry, anterior-segment examination, gonioscopy, corneal diameter and axial length measurement, dilated fundoscopy with optic-nerve-head evaluation. Medical therapy, considering the high frequency of side effects, is generally used as temporizing IOP-lowering treatment before surgery or as adjuvant treatment postoperatively in case of partially successful procedures for refractory glaucomas. Surgery is the nodal point of the management of refractory childhood glaucoma, so it is crucial to opt for a forward-looking strategy to reach the target IOP and minimize the visual loss. Keywords: childhood glaucoma, congenital glaucoma, glaucoma surgical therapy, childhood visual los

    Finding of a living population of Panopea glycimeris (Von Born, 1778) (Bivalvia; Hiatellidae) in Eastern Sicily (Mediterranean Sea)

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    A consistent living population of Panopea glycimeris (von Born, 1778) was documented underwater along the eastern coast of Sicily. Twenty specimens were counted over an area of 1000 m(2), with an estimated total population of less than 300 individuals. The morphometric measurements of an adult specimen captured are provided. Proposals to adopt protection measures for this species are discussed

    Lipoprotein metabolism in familial hypercholesterolemia

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    Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular events. In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH phenotype as well as the most recent in vitro experimental approaches used to investigate molecular defects affecting the LDL receptor pathway. In addition, we review perturbations in the metabolism of lipoproteins other than LDL in FH, with a major focus on lipoprotein (a). Finally, we discuss the mode of action and efficacy of many of the currently approved hypocholesterolemic agents used to treat patients with FH, with a special emphasis on the treatment of phenotypically more severe forms of FH. © 2021 THE AUTHORS

    Muscle damage and repeated bout effect induced by enhanced eccentric squats

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    BACKGROUND: Muscle damage and repeated bout effect have been studied after pure eccentric-only exercise. The aim of this study was to evaluate muscle damage and repeated bout effect induced by enhanced eccentric squat exercise using flywheel device. METHODS: Thirteen healthy males volunteered for this study. Creatine kinase blood activity (CK), quadriceps isometric peak torque and muscle soreness were used as markers of muscle damage. The dependent parameters were measured at baseline, immediately after and each day up to 96 hours after the exercise session. The intervention consisted of 100 repetitions of enhanced eccentric squat exercise using flywheel device. The same protocol was repeated after 4 weeks. RESULTS: After the first bout, CK and muscle soreness were significantly greater (P<0.05) than baseline respectively up to 72 and 96 hours. Isometric peak torque was significantly lower (P<0.05) up to 72 hours. After the second bout, CK showed no significant increase (P>0.05), while isometric peak torque and muscle soreness returned to values similar to baseline after respectively 48 and 72 hours. All muscle damage markers were significantly lower after second compared to first bout. CONCLUSIONS: The enhanced eccentric exercise induced symptoms of muscle damage up to 96 hours. However, it provided muscle protection after the second bout, performed four weeks later. Although it was not eccentric-only exercise, the enhancement of eccentric phase provided muscle protection

    Helicobacter pylori Dampens HLA-II Expression on Macrophages via the Up-Regulation of miRNAs Targeting CIITA

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    Macrophages have a major role in infectious and inflammatory diseases, and the available data suggest that Helicobacter pylori persistence can be explained in part by the failure of the bacterium to be killed by professional phagocytes. Macrophages are cells ready to kill the engulfed pathogen, through oxygen-dependent and -independent mechanisms; however, their killing potential can be further augmented by the intervention of T helper (Th) cells upon the specific recognition of human leukocyte antigen (HLA)-II\u2013peptide complexes on the surface of the phagocytic cells. As it pertains to H. pylori, the bacterium is engulfed by macrophages, but it interferes with the phagosome maturation process leading to phagosomes with an altered degradative capacity, and to megasomes, wherein H. pylori resists killing. We recently showed that macrophages infected with H. pylori strongly reduce the expression of HLA-II molecules on the plasma membrane and this compromises the bacterial antigen presentation to Th lymphocytes. In this work, we demonstrate that H. pylori hampers HLA-II expression in macrophages, activated or non-activated by IFN-\u3b3, by down-regulating the expression of the class II major histocompatibility complex transactivator (CIITA), the \u201cmaster control factor\u201d for the expression of HLA class II genes. We provided evidence that this effect relies on the up-regulation of let-7f-5p, let-7i-5p, miR-146b-5p, and -185-5p targeting CIITA. MiRNA expression analysis performed on biopsies from H. pylori-infected patients confirmed the up-regulation of let-7i-5p, miR-146b-5p, and -185-5p in gastritis, in pre-invasive lesions, and in gastric cancer. Taken together, our results suggest that specific miRNAs may be directly involved in the H. pylori infection persistence and may contribute to confer the risk of developing gastric neoplasia in infected patients

    Efficacy of Utilization of All-Plant-Based and Commercial Low-Fishmeal Feeds in Two Divergently Selected Strains of Rainbow Trout (Oncorhynchus mykiss): Focus on Growth Performance, Whole-Body Proximate Composition, and Intestinal Microbiome

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    The present study aimed to investigate the growth performance, whole-body proximate composition, and intestinal microbiome of rainbow trout strains when selected and non-selected for weight gain on all-plant protein diets. A 2x2 factorial design was applied, where a selected (United States) and a non-selected (ITA) rainbow trout strain were fed using either an all-plant protein (PP) or a commercial low-FM diet (C). Diets were fed to five replicates of 20 (PP) or 25 (C) fish for 105 days. At the end of the trial, growth parameters were assessed, and whole fish (15 pools of three fish/diet) and gut samples (six fish/diet) were collected for whole-body proximate composition and gut microbiome analyses, respectively. Independent of the administered diet, the United States strain showed higher survival, final body weight, weight gain, and specific growth rate when compared to the ITA fish (p < 0.001). Furthermore, decreased whole-body ether extract content was identified in the PP-fed United States rainbow trout when compared to the ITA strain fed the same diet (p < 0.001). Gut microbiome analysis revealed the Cetobacterium probiotic-like genus as clearly associated with the United States rainbow trout, along with the up-regulation of the pathway involved in starch and sucrose metabolism. In summary, the overall improvement in growth performance and, to a lesser extent, whole-body proximate composition observed in the selected rainbow trout strain was accompanied by specific, positive modulation of the intestinal microbiome

    Effects of Tenebrio molitor larvae meal inclusion in rainbow trout feed: myogenesis-related gene expression and histomorphological features

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    The effects of Tenebrio molitor larvae meal (TM) dietary inclusion in rainbow trout diet were evaluated on muscular growth using gene expression and histomorphological features of liver, spleen, kidney, anterior and posterior gut through histopathological analyses. Two hundred fifty-two grow-out rainbow trout were fed four experimental diets containing increasing levels of TM: 0% (TM0), 5% (TM25), 10% (TM50), and 20% (TM100) corresponding to different levels of fish meal replacement (0, 25, 50, and 100%, respectively). Muscular growth was evaluated analysing the expression of various genes involved in different steps of myogenesis. Among the analysed genes, only MyoD expression resulted significantly higher in fish fed TM100 compared to fish fed TM0. The gut histomorphology was not affected by TM dietary inclusion and villus height differs from anterior and posterior segments regardless of the fed diet. Histopathological alterations were observed in all the sampled organs for all the dietary treatments; however, dietary TM inclusion did not influence either development or severity of the observed histopathological changes. The results obtained confirmed the safe utilisation of TM as an alternative protein source in rainbow trout diets and highlighted the necessity to deepen the studies of TM effect on the myogenesis process, especially at a molecular level.Highlights Rainbow trout can effectively be fed with a TM protein source. Total FM substitution by TM (TM100) decreased MyoD gene expression. Increasing TM dietary inclusion did not influence gut histomorphology
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