Publications by authors named "Catania A"

Purpose: To report a case of multifocal vitelliform lesions in a patient affected by metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the m.3243A>G variant.

Observations: A 37-year-old woman affected by MELAS was referred to our center for progressive vision deterioration.

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Communicating the scientific consensus that human-caused climate change is real increases climate change beliefs, worry and support for public action in the United States. In this preregistered experiment, we tested two scientific consensus messages, a classic message on the reality of human-caused climate change and an updated message additionally emphasizing scientific agreement that climate change is a crisis. Across online convenience samples from 27 countries (n = 10,527), the classic message substantially reduces misperceptions (d = 0.

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Sulfonamides are one of the oldest groups of antibacterial agents with a broad-spectrum, used as first line treatment in bacterial infections. Their widespread use produced a selective pressure on bacteria, as observed by the high incidence of sulfonamides resistance mainly in Gram negative bacteria isolated from animals. In this research, the presence of sulfonamide resistance genes (sul1, sul2, sul3, and sul4) in phenotypically resistant Escherichia coli isolates has been studied.

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Identified the role of the hatchery in astrovirus transmission.Sequenced the avian nephritis virus complete genome.Investigated tissue distribution of astrovirus from egg to chicks.

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Background: MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to produce cellular ATP through aerobic metabolism. Although classically associated with the NARP syndrome, recent evidence highlights an important role of MT-ATP6 pathogenic variants in complicated adult-onset ataxias.

Methods: We describe two unrelated patients with adult-onset cerebellar ataxia associated with severe optic atrophy and mild cognitive impairment.

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Background: Mild cognitive impairment (MCI) may evolve into dementia. Early recognition of possible evolution to Alzheimer's disease (AD) and dementia with Lewy Bodies (DLB) is of importance, but actual diagnostic criteria have some limitations. In this systematic review and meta-analysis, we aimed to find the most accurate markers that can discriminate patients with DLB versus AD, in MCI stage.

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The study of terroir, increasingly popular in scientific circles, remains a challenging field, particularly in terms of sensory analysis. This paper summarizes our own contribution to the field-an approach for tracing the typicity of wines by sensometrics, using the Malbec variety as a case study. This large-scale research fingerprinted 81 wines from 29 parcels from highly contrasting environments (varying climate, elevation, and soils), produced under standardized conditions in three consecutive vintages.

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Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% of patients, but we can neither predict nor understand the non-responders. Idebenone is reduced by the cytosolic NAD(P)H oxidoreductase I (NQO1) and directly shuttles electrons to respiratory complex III, bypassing complex I affected in LHON. We show here that two polymorphic variants drastically reduce NQO1 protein levels when homozygous or compound heterozygous.

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Introduction: Heterozygous GBA1 variants are among the most frequent genetic risk factors for Parkinson's disease (PD). Male sex is a risk factor in the development of PD but the sex prevalence of GBA1 carriers in PD patients remains debatable. Molecular analysis of the GBA1 gene is complicated by the presence of a highly homologous pseudogene GBAP1.

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Background: The assessment and management of adult dysphagia in South Africa is complex as appropriate intervention requires a balance of theoretical knowledge and critical thinking to ensure service delivery is appropriate within a resource-constrained health care system. Critical thinking involves the skilful evaluation of information to make informed decisions for effective assessment and intervention. It is imperative for Speech-Language Pathologists (SLPs) to cultivate these skills from an early stage in their careers.

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Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON is mostly defined by the identification of three pathogenic variants in the mitochondrial DNA. Idebenone is widely used to treat LHON patients, but only some of them are responders to treatment.

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Spatial attentional biases can be observed during the processing of linguistic material. For example, we previously reported that healthy subjects overestimate the semantic distance between word stimuli in the right vs. left space.

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Food processing lines represents a suitable environment for bacterial biofilm formation. One of the most common biofilm-forming genera in dairy processing plants is , which includes species that may have a negative impact on safety and/or quality of dairy products. In the current study, we evaluated the biofilm forming ability and molecular characteristics of dairy spp.

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Background: Cognitive dysfunctions after a brain stroke have a huge impact on patients' disability and activities of daily living. Prism adaptation (PA) is currently used in patients with right brain damage to improve lateralized spatial attentional deficits. Recent findings suggest that PA could also be useful for rehabilitation of other cognitive functions.

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Grenache wines from the Central Coast of California were subjected to different alcoholic fermentation temperature regimes (Cold, Cold/Hot, Hot) and cap management protocols, namely, punch down (PD), or no punch down (No PD), to determine the effect of these practices on the color, aroma, and the retronasal and mouthfeel sensory characteristics of the resulting wines. Descriptive analysis ( = 8, line scale rating 0-15) results indicated that the combination of a hot fermentation temperature and no punch downs led to a significantly higher intensity in perceived color saturation (7.89) and purple hue (8.

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Cataract surgery is the most frequently performed surgical procedure in the elderly in Western countries and patients' expectations for postoperative outcomes are very high.Dry eye disease (DED) is a common multifactorial symptomatic disease of the ocular surface with a complex etiopathogenesis and a prevalence significantly increasing with age.Cataract surgery and DED have a complex relationship, which needs to be acknowledged, understood, and properly managed, as suggested by daily clinical experience and growing scientific evidence.

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An investigation into the only representative of the genus Papilio on the island of Lampedusa, the largest island of the Pelagian group, was conducted as part of a broader Mediterranean-wide study on the machaon complex. Over a three-year period, adults, larvae and ova were collected for further research during field visits, while an in-house breeding programme involving wild-collected gravid females was initiated with a view to examine an adequately sized series of specimens. A total of 38 adults, including 23 male specimens, >150 ova, 233 larvae, and 220 pupae were examined.

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This tribute to Howard Rachlin speculates about scholarly work that might have been. It explores how behavioral data might bear on philosophical issues, with examples that might be called case studies in experimental philosophy. In 1964, an issue of the Proceedings of the American Philosophical Society served a similar function.

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Rachlin's interpretations of self-control depend on the short-term versus the long-term consequences of behavior. Sometimes these effects support each other (typing an abstract produces a written product now and is later read by others). Sometimes they conflict (procrastination now is incompatible with finishing the abstract by deadline).

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Article Synopsis
  • LETM1 is a gene that encodes a protein in the inner mitochondrial membrane involved in regulating mitochondrial volume and ion balance, and its dysfunction is linked to various mitochondrial diseases.
  • Research has discovered 18 individuals from 11 families with rare LETM1 mutations, showing severe symptoms mostly beginning in infancy, such as developmental delays, hearing loss, and neurodegeneration.
  • Further studies in human cells and yeast have shown that these LETM1 mutations can lead to impaired potassium efflux and dysfunctional mitochondria, contributing to the observed neurological issues and other health problems.
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Bonarda, the second red grape variety in Argentina, produces high yields per hectare generating, in several cases, low quality wines. Microwave-assisted extraction (MW) is a novel extraction technique for winemaking, widely applied in other foods. Stems addition (S) during vinification can be a sustainable technology for phenolic and aroma contribution without additional cost.

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Article Synopsis
  • Increased expression of the uPA system is linked to tumor growth and poor prognosis in several cancers, including thyroid carcinomas, making it a potential target for treatment.
  • WX-340, a specific uPA inhibitor, was tested on aggressive thyroid cancer cells and showed reduced cell adhesion and invasion but increased uPA receptor levels.
  • Despite its effects on cell behavior, WX-340 did not significantly lower tumor growth in animal models, suggesting that targeting uPA might not be enough for effective therapy.
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Endonuclease G (ENDOG) is a nuclear-encoded mitochondrial-localized nuclease. Although its precise biological function remains unclear, its proximity to mitochondrial DNA (mtDNA) makes it an excellent candidate to participate in mtDNA replication, metabolism and maintenance. Indeed, several roles for ENDOG have been hypothesized, including maturation of RNA primers during mtDNA replication, splicing of polycistronic transcripts and mtDNA repair.

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Background: During the last two years, COVID-19 affected older people with dementia or mild cognitive impairment (MCI), but conflicting and sparse results are still present. The objective of this study was to investigate the frequency and type of changes in functional, cognitive and behavioral and psychological symptoms of dementia (BPSD), and caregiver's stress during the period of quarantine in 2020 in patients affected by dementia/MCI living in Palermo, Sicily.

Methods: Outpatients affected by MCI/dementia were evaluated before and after COVID-19 quarantine.

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Processed cheese is a commercial product characterized by high microbiological stability and extended shelf life obtained through the application of severe heat treatment. However, spore-forming bacteria can survive through thermal processes. Among them, microorganisms belonging to genus have been reported.

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