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26 result(s) for "Massini, Giulia"
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Nutritional Strategies to Prevent Muscle Loss and Sarcopenia in Chronic Kidney Disease: What Do We Currently Know?
Loss of muscle mass is an extremely frequent complication in patients with chronic kidney disease (CKD). The etiology of muscle loss in CKD is multifactorial and may depend on kidney disease itself, dialysis, the typical chronic low-grade inflammation present in patients with chronic kidney disease, but also metabolic acidosis, insulin resistance, vitamin D deficiency, hormonal imbalances, amino acid loss during dialysis, and reduced dietary intake. All these conditions together increase protein degradation, decrease protein synthesis, and lead to negative protein balance. Aging further exacerbates sarcopenia in CKD patients. Nutritional therapy, such as protein restriction, aims to manage uremic toxins and slow down the progression of CKD. Low-protein diets (LPDs) and very low-protein diets (VLPDs) supplemented with amino acids or ketoacids are commonly prescribed. Energy intake is crucial, with a higher intake associated with maintaining a neutral or positive nitrogen balance. Adequate nutritional and dietary support are fundamental in preventing nutritional inadequacies and, consequently, muscle wasting, which can occur in CKD patients. This review explores the causes of muscle loss in CKD and how it can be influenced by nutritional strategies aimed at improving muscle mass and muscle strength.
Using Artificial Neural Network Models (ANNs) to Identify Patients with Idiopathic Normal Pressure Hydrocephalus (INPH) and Alzheimer Dementia (AD): Clinical Psychological Features and Differential Diagnosis
Background and Objectives: Patients with idiopathic normal pressure hydrocephalus (INPH) present similar symptoms as other diseases, such as dementia (AD). However, while dementia is not reversible, INPH dementia can be treated through neurosurgery. This study aims to assess the Rorschach method as a valid tool to identify INPH patients. Materials and Methods: The perception characteristics of a small sample of patients (n = 19) were observed through the Rorschach Inblok test. Artificial neural network (ANN) models allowed us to analyze the correlations between patients’ cognitive functions and perception characteristics. Results: The results obtained revealed significant insights about the independent traits in patients’ patterns of response with INPH and AD. In performing the test, patients with INPH and AD concentrated more on the cards displayed and what they perceived, while other patients concentrated on reactions related to the image proposed. Conclusions: The Rorschach test is a valid predictor tool to identify INPH patients who could successfully be treated with neurosurgery. Hence, this methodology has potential in differential diagnosis applied to a clinical context.
Diagnosis of Familial Hypercholesterolemia in Children: From Clinical Features Through Gene Variants to Polygenic Score
Background: Early diagnosis of familial hypercholesterolemia (FH) is crucial to improve long-term outcomes. FH diagnosis relies on elevated low-density lipoprotein cholesterol (LDL-C) levels, familial clinical characteristics, and identification of pathogenic variants in FH-related genes. Secondary factors, such as overweight and obesity, are known to influence lipid profiles in the general population. More recently, polygenic risk scores based on single-nucleotide polymorphisms (SNPs) have been proposed as additional determinants of LDL-C levels. Methods: We enrolled 214 pediatric subjects with LDL-C levels ≥95th percentile (after 6 months of dietary intervention) and with at least one parent with LDL-C levels ≥ 95th percentile. All participants underwent biochemical and auxological assessment and genetic testing for FH. In a subgroup of 60 subjects, LDL-C polygenic scores based on 6- and 12-SNPs were calculated. Results: Pathogenic variants confirming heterozygous FH were identified in 190 subjects (variant-positive, V+); 17 were variant-negative (V−), yielding a mutation detection rate of 91.8%. An additional seven patients carrying variants of uncertain significance were excluded from the primary analysis. LDL-C was modestly higher in V+ than V− subjects using both Friedewald (212 vs. 188 mg/dL; p = 0.035) and Martin–Hopkins formulas (208 vs. 187 mg/dL; p = 0.041), while the other main clinical and laboratory parameters were similar. In V+, LDL-C was higher in subjects with null variants, compared to those with defective variants. Body mass index (BMI SDS) was inversely correlated with HDL-C (p < 0.001), and obesity (BMI z-score > 2 SDS) was associated with lower HDL-C and higher LDL-C, non-HDL-C, and ApoB. With regard to the polygenic scores, 12- and 6-SNP scores showed overlap between V+ and V−, and published cut-offs did not discriminate lipid severity in our population; however, in V+ subjects, the 12-SNP score acted as a phenotype modifier, being independently associated with higher LDL-C and non-HDL-C levels after adjustment for age, sex, and BMI SDS. Conclusions: In children selected by LDL-C ≥ 95th percentile, together with autosomal dominant familial hypercholesterolemia, genetic confirmation of FH is achieved in the vast majority of cases. Variant type (null vs. defective), BMI, and polygenic background contribute to phenotypic heterogeneity, supporting the need to address other factors alongside genetic diagnosis. Further validation is needed before polygenic scores can be implemented in routine clinical practice.
A Pattern Recognition Analysis of Vessel Trajectories
The automatic identification system (AIS) facilitates the monitoring of ship movements and provides essential input parameters for traffic safety. Previous studies have employed AIS data to detect behavioral anomalies and classify vessel types using supervised and unsupervised algorithms, including deep learning techniques. The approach proposed in this work focuses on the recognition of vessel types through the “Take One Class at a Time” (TOCAT) classification strategy. This approach pivots on a collection of adaptive models rather than a single intricate algorithm. Using radar data, these models are trained by taking into account aspects such as identifiers, position, velocity, and heading. However, it purposefully excludes positional data to counteract the inconsistencies stemming from route variations and irregular sampling frequencies. Using the given data, we achieved a mean accuracy of 83% on a 6-class classification task.
Anaerobic Digestion and Removal of Sulfamethoxazole, Enrofloxacin, Ciprofloxacin and Their Antibiotic Resistance Genes in a Full-Scale Biogas Plant
Anaerobic digestion is one of the best ways to re-use animal manure and agricultural residues, through the production of combustible biogas and digestate. However, the use of antibiotics for preventing and treating animal diseases and, consequently, their residual concentrations in manure, could introduce them into anaerobic digesters. If the digestate is applied as a soil fertilizer, antibiotic residues and/or their corresponding antibiotic resistance genes (ARGs) could reach soil ecosystems. This work investigated three common soil emerging contaminants, i.e., sulfamethoxazole (SMX), ciprofloxacin (CIP), enrofloxacin (ENR), their ARGs sul1, sul2, qnrS, qepA, aac-(6′)-Ib-cr and the mobile genetic element intI1, for one year in a full scale anaerobic plant. Six samplings were performed in line with the 45-day hydraulic retention time (HRT) of the anaerobic plant, by collecting input and output samples. The overall results show both antibiotics and ARGs decreased during the anaerobic digestion process. In particular, SMX was degraded by up to 100%, ENR up to 84% and CIP up to 92%, depending on the sampling time. In a similar way, all ARGs declined significantly (up to 80%) in the digestate samples. This work shows how anaerobic digestion can be a promising practice for lowering antibiotic residues and ARGs in soil.
Bioaugmentation Strategies for Enhancing Methane Production from Shrimp Processing Waste through Anaerobic Digestion
Bioaugmentation strategies were tested to improve energetic valorization of shrimp processing waste (SPW) by anaerobic digestion (AD). A fermenting bacteria pool (F210) obtained from coastal lake sediments and two strains of anaerobic fungi (AF), Orpynomyces sp. and Neocallimastix sp., commonly found as components of microbial community of AD plants, were used with the aim of improving the fermentative and hydrolytic phases of AD, respectively. The experiment was carried out by testing single bioaugmentation at an SPW concentration of 6.5 gVS L−1 and combined bioaugmentation at three SPW concentrations (6.5, 9.7 and 13.0 gVS L−1, respectively), in batch mode and mesophilic conditions. Cumulative CH4 productions were higher in the combined bioaugmentation tests and increased in line with SPW concentration. The F210 played a key role in enhancing CH4 production while no effect was attributable to the addition of AFs. The CH4 content (%) in the biogas increased with substrate concentrations, with average values of 67, 70, and 73%, respectively. Microbial community abundance increased in line with the SPW concentration and the acetoclastic Methanosarcina predominated within the methanogen Archaea guild in the combined bioaugmentation test (in all cases > 65%).
Anaerobic Digestion of Cattle Manure Contaminated with an Antibiotic Mixture: A Nature-Based Solution for Environmental Management
Anaerobic digestion (AD) is a waste-to-energy strategy that leverages natural microbiological processes. It is increasingly used in farms to treat manure, resulting in biogas for energy production and digestate as fertiliser. However, animal manure often contains antibiotic (AB) residues, raising concerns about their impact on AD efficiency and their potential spread through digestate use. This multidisciplinary study evaluated the effects of an AB mixture (enrofloxacin, ciprofloxacin and sulfamethoxazole) on CH4 production, microbial community (Fungi, Bacteria and Archaea) dynamics and antibiotic resistance gene (ARG) presence. The experiment used a cattle manure/digestate ratio of 1:35, typical of real digesters, with AB concentrations set at low (2.5 mg kg−1 each) and high (7.5 mg kg−1 each) levels. The ABs affected cumulative CH4 production (ranging from 5939 to 6464 mL) only at the highest concentration. After 51 days, sulfamethoxazole reached residual levels, while enrofloxacin and ciprofloxacin were only partially degraded (<50%), but ARGs were significantly reduced. The microbial community, particularly prokaryotes, exhibited resilience, maintaining efficient CH4 production. Overall findings strongly suggest that AD is an effective treatment for producing energy and good fertiliser, also reducing AB and ARG content as well as mitigating CH4 emissions into the atmosphere.
Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life
Background: The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available. Moreover, the application of diagnostic scores, useful in adults, is poorly applied in children. The aim of this study was to compare the reliability of criteria here applied with different scores, apart from genetic analysis, for FH diagnosis. The latter was then confirmed by genetic analysis. Methods: n. 180 hypercholesterolemic children (age 10.2 ± 4.6 years) showing LDL-C levels ≥95th percentile (age- and sex-related), the dominant inheritance pattern of hypercholesterolemia (including LDL-C ≥95th percentile in one parent), were considered potentially affected by FH and included in the study. The molecular analysis of the LDLR, APOB and PCSK9 genes was applied to verify the diagnostic accuracy. Biochemical and family history data were also retrospectively categorized according to European Atherosclerosis Society (EAS), Simon Broome Register (SBR), Pediatric group of the Italian LIPIGEN (LIPIGEN-FH-PED) and Dutch Lipid Clinic Network (DLCN) criteria. Detailed kindred biochemical and clinical assessments were extended to three generations. The lipid profile was detected by standard laboratory kits, and gene analysis was performed by traditional sequencing or Next-Generation Sequencing (NGS). Results: Among 180 hypercholesterolemic subjects, FH suspected based on the above criteria, 164/180 had the diagnosis confirmed, showing causative mutations. The mutation detection rate (MDR) was 91.1%. The scoring criteria proposed by the EAS, SBR and LIPIGEN-FH-PED (resulting in high probable, possible-defined and probable-defined, respectively) showed high sensitivity (~90%), low specificity (~6%) and high MDR (~91%). It is noteworthy that their application, as a discriminant for the execution of the molecular investigation, would lead to a loss of 9.1%, 9.8% and 9.1%, respectively, of FH-affected patients, as confirmed by the genetic analysis. DLCN criteria, for which LDL-C cut-offs are not specific for childhood, would lead to a loss of 53% of patients with mutations. Conclusions: In the pediatric population, the combination of LDL-C ≥95th percentile in the proband and the dominant inheritance pattern of hypercholesterolemia, with LDL-C ≥95th percentile in one parent, is a simple, useful and effective diagnostic criterion, showing high MDR. This pattern is crucial for early FH diagnosis. EAS, SBR and LIPIGEN-FH-PED criteria can underestimate the real number of patients with gene mutations and cannot be considered strictly discriminant for the execution of molecular analysis.
Effects of Ciprofloxacin Alone or in Mixture with Sulfamethoxazole on the Efficiency of Anaerobic Digestion and Its Microbial Community
Some livestock farms rely on anaerobic digestion (AD) technology for manure disposal, thus obtaining energy (biogas) and fertilizer (digestate). Mixtures of antibiotics used for animal health often occur in organic waste and their possible synergistic/antagonistic effects on microorganisms involved in AD are still poorly studied. This work focuses on the effects of adding ciprofloxacin, alone (5 mg L−1) and in combination with sulfamethoxazole (2.5–5–10 mg L−1), on AD efficiency and microbial community structure. The experiment consisted of 90-day cattle manure batch tests and antibiotic removal percentages were assessed. Adding antibiotics always promoted CH4 and H2 production compared to untreated controls; however, CH4 production was lowered with the highest ciprofloxacin (CIP) concentrations. The overall results show antibiotic degradation caused by acidogenic Bacteria, and CH4 was mainly produced through the hydrogenotrophic-pathway by methanogenic Archaea. Shifts in microbial community abundance (DAPI counts) and composition (Illumina-MiSeq and FISH analyses) were observed.
Thermophilic Anaerobic Digestion of Second Cheese Whey: Microbial Community Response to H2 Addition in a Partially Immobilized Anaerobic Hybrid Reactor
In this study, we investigated thermophilic (55 °C) anaerobic digestion (AD) performance and microbial community structure, before and after hydrogen addition, in a novel hybrid gas-stirred tank reactor (GSTR) implemented with a partial immobilization of the microbial community and fed with second cheese whey (SCW). The results showed that H2 addition led to a 25% increase in the methane production rate and to a decrease of 13% in the CH4 concentration as compared with the control. The recovery of methane content (56%) was reached by decreasing the H2 flow rate. The microbial community investigations were performed on effluent (EF) and on interstitial matrix (IM) inside the immobilized area. Before H2 addition, the Anaerobaculaceae (42%) and Lachnospiraceae (27%) families dominated among bacteria in the effluent, and the Thermodesulfobiaceae (32%) and Lachnospiraceae (30%) families dominated in the interstitial matrix. After H2 addition, microbial abundance showed an increase in the bacteria and archaea communities in the interstitial matrix. The Thermodesulfobiaceae family (29%)remained dominant in the interstitial matrix, suggesting its crucial role in the immobilized community and the SHA-31 family was enriched in both the effluent (36%) and the interstitial matrix (15%). The predominance of archaea Methanothermobacter thermoautrophicus indicated that CH4 was produced almost exclusively by the hydrogenotrophic pathway.