Publications by authors named "Maria Luca"

Introduction: Capgras syndrome (CS) is a delusional misidentification phenomenon increasingly reported in patients with Parkinson's disease (PD) and Lewy Body Dementia (LBD). Aim of the present scoping review was to provide an overview on current evidence on the pharmacological treatment of CS in PD and LBD, identifying knowledge gaps in the literature.

Methods: The following databases were consulted: PubMed, Google Scholar, the Cochrane Database and Web of Science.

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Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and -related overgrowth spectrum (PROS). However, it can also present as isolated (ILO).

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Background: Clinical predictors of treatment-resistant depression could improve treatment strategies. Depressive symptom profiles at baseline are potential outcome predictors, but little evidence is available, and sex-specific profiles have been scarcely investigated.

Methods: Baseline symptom scores of 1294 patients with major depressive disorder were assessed by the Montgomery-Åsberg depression rating scale (MADRS) as part of a multicenter study by the "Group for the Studies of Resistant Depression".

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: Horseradish ( L.) roots-largely used in traditional medicine for their multiple therapeutic effects-are a rich source of health-promoting phytochemicals. However, their efficacy can be compromised by low chemical stability and poor bioavailability.

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Article Synopsis
  • Current antipsychotics mainly target dopamine but often fail to address the complexity of schizophrenia and can cause significant side effects, highlighting a need for new treatments.
  • Recent research is focusing on non-dopaminergic antipsychotics, such as muscarinic agonists and 5-HT2A antagonists, to offer better therapeutic options for schizophrenia.
  • While new drugs like xanomeline-trospium have been approved, others like bitopertin and pimavanserin were halted in development, emphasizing the need for cautious evaluation of their efficacy and safety.
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  • Very low-calorie ketogenic diets (VLCKD) effectively aid weight loss in obese individuals and can decrease liver condition risks.
  • Small extracellular vesicles (sEVs) from serum are studied in obese adults to see how they affect liver fibrosis and inflammation, with participants divided into low and high fibrosis risk groups.
  • Results show that sEVs from low-risk patients improved liver health markers, while those from high-risk patients worsened inflammation and fibrosis signals, stressing the importance of assessing sEVs alongside traditional methods like FibroScan.
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Background/objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3-0.4% of pediatric tumors.

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Background: The recently published New Italian version of the Wilkins Rate of Reading Test (standard Italian WRRT) was designed to measure reading speed in repeated-measures designs in research and/or clinical examinations. The test features 15 equivalent 10-line passages made up of unrelated words, adhering to the principles established by the Wilkins Rate of Reading Test in English (original WRRT).

Aim: To develop a short Italian version of the WRRT (SI-WRRT), and to determine the equivalence across the new, shorter passages of text.

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Background: Anhedonic features within major depressive disorder (MDD) have been associated with worse course and outcome and may predict nonresponse to treatment. However, a detailed clinical profile of anhedonia in MDD is still lacking.

Materials And Methods: One thousand two hundred ninety-four patients with MDD were selected from the cross-sectional European multicenter Group for the Study of Resistant Depression study.

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Illness perceptions (IPs) encompass opinions regarding the nature, severity and curability of a disease. The aim of this cross-sectional study was to investigate the association between alexithymia and IPs among persons with multiple sclerosis (PwMS) and their partners, as well as within the dyads composed of PwMS and partners. PwMS referred to the Multiple Sclerosis Center of the University Hospital "Policlinico-San Marco" from 11th August 2021 to 7th January 2022 and their partners completed a battery of questionnaires, including the Toronto Alexithymia Scale-20 and the Illness Perception Questionnaire Revised.

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Background: Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored.

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Evidence suggests that angiotensin-converting enzyme inhibitors (ACEIs) may increase metabolic rate by promoting thermogenesis, potentially through enhanced fat oxidation and improved insulin. More research is, however, needed to understand this intricate process. In this study, we used 22 lines from the Genetic Reference Panel to assess the metabolic rate of virgin female and male flies that were either fed a standard medium or received lisinopril for one week or five weeks.

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  • Crohn's disease (CD) is an inflammatory bowel disease that can affect the gastrointestinal tract and cause complications outside of it, and some patients have shown adverse effects after receiving the Pfizer-BioNTech mRNA vaccine.
  • Following vaccination, some CD patients have experienced a reduced effectiveness of the biological drug Adalimumab and a worsening of their condition, correlated with changes in intestinal permeability and protein expression.
  • The study aims to explore the effects of the SARS-CoV-2 Spike protein, particularly through extracellular vesicles, on the onset of Crohn's disease exacerbations and the potential impact on existing treatments.
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  • Endothelial cellular senescence is linked to age-related vascular dysfunction, with changes in the glycocalyx and shedding of syndecan-4 (SDC4) noted in various age-related diseases.
  • An in vitro study showed that inflammation and replicative senescence increased SDC4 expression and shedding in human endothelial cells, while analysis of plasma SDC4 levels in diabetic and healthy subjects revealed significant differences linked to cardiovascular events.
  • High plasma levels of SDC4 in subjects with type 2 diabetes without complications were associated with lower risk of major adverse cardiovascular events (MACE), suggesting SDC4 could potentially serve as a prognostic marker for cardiovascular issues over time.
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  • The VLCKD diet helps in fat mobilization and reduces inflammation and liver issues in patients.
  • The study focuses on how circulating extracellular vesicles (EVs) affect certain cellular processes and responses in patients undergoing an 8-week VLCKD regimen.
  • Results indicate that while exosomes decrease cell viability, microvesicles do not, and reactive oxygen species (ROS) levels are consistent markers of diet adherence and may correlate more reliably with improvements in fibrotic response compared to ketone body levels.
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  • * Various risk factors, especially those related to the recipient, like metabolic changes and lifestyle choices, play a significant role in the onset of this disease.
  • * Diagnosis typically involves liver biopsy, but non-invasive techniques are on the rise, and treatment includes lifestyle changes and managing immunosuppressive therapy and metabolic issues, with a focus on the emerging definition of metabolic-dysfunction-associated steatotic liver disease (MASLD).
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The use of synthetic cannabinoid receptor agonists (SCRAs) represents a public health concern. Besides abuse liability and cognitive impairments, SCRAs consumption is associated with serious medical consequences in humans, including cardiotoxicity. The precise mechanisms underlying cardiac or other toxicities induced by SCRAs are not well understood.

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Objective: To demonstrate a high-yield molecular diagnostic workflow for lateralized overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to classify it by molecular genetics.

Study Design: We categorized 186 retrospective cases of LO diagnosed between 2003 and 2023 into suspected Beckwith-Wiedemann spectrum, PIK3CA-related overgrowth spectrum (PROS), vascular overgrowth, or isolated LO, based on initial clinical assessments, to determine the appropriate first-tier molecular tests and tissue for analysis. Patients underwent testing for 11p15 epigenetic abnormalities or somatic variants in genes related to PI3K/AKT/mTOR, vascular proliferation, and RAS-MAPK cascades using blood or skin DNA.

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Lung cancer presents significant therapeutic challenges, motivating the exploration of novel treatment strategies. Programmed cell death (PCD) mechanisms, encompassing apoptosis, autophagy, and programmed necrosis, are pivotal in lung cancer pathogenesis and the treatment response. Dysregulation of these pathways contributes to tumor progression and therapy resistance.

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Objective: Bariatric surgery induces a significant loss of both fat mass (FM) and fat-free mass (FFM). The proteoglycan receptor syndecan-4 (SDC4) plays a crucial role in adipose tissue and skeletal muscle functions. Thus, this study was performed (i) to assess plasma SDC4 levels after both Sleeve Gastrectomy (SG) and Roux-en-Y Gastric Bypass (RYGB) surgeries, and (ii) to explore potential associations with changes in body composition variables.

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Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.

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  • The study investigates a novel nonsense variant in the CASR gene that affects calcium sensing and is linked to hypocalcemia in a patient.
  • Experiments comparing the mutant CASR receptor to the wild-type show the mutant has a lower molecular weight and higher baseline activity despite being less responsive to increases in extracellular calcium levels.
  • The findings confirm that the Q967* variant leads to an overactive receptor, which aligns with the patient's symptoms, suggesting key regulatory elements are located in the cytoplasmic tail of the receptor.
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Background: The proliferation of novel psychoactive substances (NPS) in the drug market raises concerns about uncertainty on their pharmacological profile and the health hazard linked to their use. Within the category of synthetic stimulant NPS, the phenethylamine 2-Cl-4,5-methylenedioxymethamphetamine (2-Cl-4,5-MDMA) has been linked to severe intoxication requiring hospitalization. Thereby, the characterization of its pharmacological profile is urgently warranted.

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The intestine is essential for the modulation of nutrient absorption and the removal of waste. Gut pathologies, such as cancer, inflammatory bowel diseases (IBD), irritable bowel syndrome (IBS), and celiac disease, which extensively impact gut functions, are thus critical for human health. Targeted drug delivery is essential to tackle these diseases, improve therapy efficacy, and minimize side effects.

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A timely detection of visual hemifield deficits (VHFDs; hemianopias or quadrantanopias) is critical for both the diagnosis and treatment of stroke patients. The present study determined the sensitivity and specificity of four qualitative visual field tests, including face description, confrontation tests (finger wiggle), and kinetic boundary perimetry, to screen large and dense VHFDs in right-brain-damaged (RBD) stroke patients. Previously, the accuracy of qualitative visual field tests was examined in unselected samples of patients with heterogeneous aetiology, in which stroke patients represented a very small fraction.

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