2,156 results match your criteria: "University of Naples "Federico II" Medical School[Affiliation]"

The need to increase food safety and improve human health has led to a worldwide increase in interest in gamma-aminobutyric acid (GABA), produced by lactic acid bacteria (LABs). GABA, produced from glutamic acid in a reaction catalyzed by glutamate decarboxylase (GAD), is a four-carbon, non-protein amino acid that is increasingly used in the food industry to improve the safety/quality of foods. In addition to the possible positive effects of GABA, called a postbiotic, on neuroprotection, improving sleep quality, alleviating depression and relieving pain, the various health benefits of GABA-enriched foods such as antidiabetic, antihypertension, and anti-inflammatory effects are also being investigated.

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Am J Hum Genet

September 2024

MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK. Electronic address:

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These "selfish" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father's age, and high apparent germline mutation rate. To date, all known selfish mutations cluster within the components of the RTK-RAS-MAPK signaling pathway, a critical modulator of testicular homeostasis.

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Background: Elevated microRNA-155 (miR-155) expression in non-small-cell lung cancer (NSCLC) promotes cisplatin resistance and negatively impacts treatment outcomes. However, miR-155 can also boost anti-tumor immunity by suppressing PD-L1 expression. Therapeutic targeting of miR-155 through its antagonist, anti-miR-155, has proven challenging due to its dual molecular effects.

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  • Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
  • The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
  • Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
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  • Immunological therapies, including immune checkpoint inhibitors (ICIs) and cell-based therapies like CAR-T, have transformed cancer treatment by enabling the immune system to target cancer cells.
  • While these therapies are generally effective, they can cause immune-related adverse events (irAEs) that vary in severity and timing, from mild skin rashes to serious complications such as myocarditis or cytokine release syndrome.
  • The statement discusses the growing understanding of cardiovascular toxicities associated with these therapies, outlines their diagnosis and management, and identifies gaps in current research that need further exploration.
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Despite the implementation of multimodal treatments after surgery, glioblastoma (GBM) remains an incurable disease, posing a significant challenge in neuro-oncology. In this clinical setting, local therapy (LT), a developing paradigm, has received significant interest over time due to its potential to overcome the drawbacks of conventional therapy options for GBM. The present review aimed to trace the historical development, highlight contemporary advances and provide insights into the future horizons of LT in GBM management.

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Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis.

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  • - This national survey aimed to assess the use of liver hypertrophy techniques in Italy, focusing on trends and differences among various medical centers.
  • - In December 2022, 46 centers completed a detailed online questionnaire, revealing that hypertrophy techniques were used in 6.2% of liver resections, with PVE and ALPPS being the most common techniques employed.
  • - The findings indicated that while these techniques play a crucial role in increasing resectability, there is substantial inconsistency in how centers define the need for them and the protocols used for patient allocation.
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  • Ruxolitinib (RUX) is a treatment for myelofibrosis, mainly studied in high-risk patients, but is often given to intermediate-1 patients with limited data on its effects.
  • In a study of 1,055 myelofibrosis patients, over half were classified as intermediate-1 risk, with notable symptoms and some having high-molecular-risk mutations.
  • The study found that after 6 months of RUX treatment, a significant proportion of patients experienced improvements in spleen size and symptoms, with certain factors like the absence of high-molecular-risk mutations being linked to better treatment responses.
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Here, we employ polymer physics models of chromatin to investigate the 3D folding of a 2Mb wide genomic region encompassing the human gene, a crucial DNA locus involved in key cellular functions. Through extensive Molecular Dynamics simulations, we reconstruct in-silico the ensemble of single-molecule 3D structures, which we benchmark against recent in-situ Hi-C 2.0 data.

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Tailoring the treatment of inflammatory rheumatic diseases by a better stratification and characterization of the clinical patient heterogeneity. Findings from a systematic literature review and experts' consensus.

Autoimmun Rev

September 2024

Rheumatology and Clinical Immunology, Department of Medicine, School of Medicine, University of Rome "Campus Bio-Medico", 00128 Rome, Italy; Clinical and Research Section of Rheumatology and Clinical Immunology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.

Inflammatory rheumatic diseases are different pathologic conditions associated with a deregulated immune response, codified along a spectrum of disorders, with autoinflammatory and autoimmune diseases as two-end phenotypes of this continuum. Despite pathogenic differences, inflammatory rheumatic diseases are commonly managed with a limited number of immunosuppressive drugs, sometimes with partial evidence or transferring physicians' knowledge in different patients. In addition, several randomized clinical trials, enrolling these patients, did not meet the primary pre-established outcomes and these findings could be linked to the underlying molecular diversities along the spectrum of inflammatory rheumatic disorders.

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  • Thyroid Eye Disease (TED) is a serious autoimmune condition linked with thyroid issues, leading to significant eye problems and discomfort.
  • Recent breakthroughs in TED treatment include Teprotumumab, the first FDA-approved medication specifically for the disease, which effectively reduces inflammation and improves patient quality of life.
  • Management of TED requires a team of specialists and includes advancements in both medical treatments and surgical techniques, ensuring comprehensive care for affected patients.
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  • More people around the world are having serious eye problems that affect their vision due to conditions like diabetes and other health issues.
  • Scientists and doctors are exploring new technology and AI to help find and diagnose these eye diseases faster and more accurately.
  • Using AI can make it easier for doctors to help patients, especially those who live far away, by quickly spotting problems and suggesting the right treatments.*
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The spread of multidrug-resistant strains of , the etiologic agent of gonorrhea, represents a global health emergency. Therefore, the development of a safe and effective vaccine against gonorrhea is urgently needed. In previous studies, murine monoclonal antibody (mAb) 2C7 was raised against gonococcal lipooligosaccharide (LOS).

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Introduction: Schizophrenia (SCZ) and autism spectrum disorder (ASD) are neurodevelopmental diseases characterized by different psychopathological manifestations and divergent clinical trajectories. Various alterations at glutamatergic synapses have been reported in both disorders, including abnormal NMDA and metabotropic receptor signaling.

Methods: We conducted a bicentric study to assess the blood serum levels of NMDA receptors-related glutamatergic amino acids and their precursors, including L-glutamate, L-glutamine, D-aspartate, L-aspartate, L-asparagine, D-serine, L-serine and glycine, in ASD, SCZ patients and their respective control subjects.

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Metabolic and Bariatric Surgeon Criteria-An International Experts' Consensus.

Obes Surg

September 2024

Department of Surgery, Center for Metabolic and Bariatric Surgery, Brigham and Women's Hospital, Director of Bariatric and Metabolic Surgery, Harvard Medical School, Boston, MA, USA.

Article Synopsis
  • The study highlights the increasing importance of metabolic and bariatric surgery (MBS) in addressing global obesity, emphasizing the need for rigorous academic and fellowship training for surgeons.
  • A Modified Delphi method involving 89 surgeons from 42 countries was used to establish expert consensus on the necessary criteria for surgeons to obtain privileges for performing MBS, reaching agreement on 29 out of 30 statements.
  • Key consensus points include the requirement for surgeons to hold a general surgery degree, complete a dedicated fellowship, and adhere to defined learning curves for various MBS procedures, alongside maintaining patient data and collaborating in a multidisciplinary team.
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Unresolved inflammation, due to unfavorable imbalances between pro-inflammatory and pro-resolving mediators, leads to chronic inflammatory pathologies that are often sex-biased and regulated by sex hormones, including inflammatory bowel disease. Lipid mediators (LM) produced from polyunsaturated fatty acids by various lipoxygenases (LOX) and cyclooxygenases govern all stages of inflammation, i.e.

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  • International guidelines recommend using direct oral anticoagulants (DOAC) over vitamin K antagonists (VKA) and dual antithrombotic therapy (DAT) over triple antithrombotic therapy (TAT) for patients on oral anticoagulant therapy undergoing percutaneous coronary intervention (PCI) with stents.
  • A study involving 1234 patients on oral anticoagulants assessed the outcomes of DOAC versus VKA and DAT versus TAT, focusing on net adverse clinical events (NACE) at a one-year follow-up.
  • Results showed DOAC resulted in a lower NACE rate compared to VKA (16% vs 23%), and while DAT and TAT had similar NACE rates, DAT led to
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Sub-optimal response in schizophrenia is frequent, warranting augmentation strategies over treatment-as-usual (TAU). We assessed nutraceuticals/phytoceutical augmentation strategies via network meta-analysis. Randomized controlled trials in schizophrenia/schizoaffective disorder were identified via the following databases: PubMed, MEDLINE, EMBASE, Scopus, PsycINFO, CENTRAL, and ClinicalTrials.

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  • - The study compared the effectiveness and safety of four first-generation flow diverters (FDs) used for treating sidewall ICA intracranial aneurysms, which include Pipeline, Silk, FRED, and Surpass devices, using data from 444 patients across 18 institutions from 2009-2016.
  • - Analysis revealed no significant differences in retreatment rates or complications among the devices; however, the Surpass device showed the highest probability of achieving effective occlusion at follow-up, followed by FRED, Pipeline, and Silk.
  • - Although all devices had good clinical outcomes, the study highlights the need for prospective research to further clarify the differences and long-term effects of these flow diverters.
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Background: A sex-based evaluation of prognosis in heart failure (HF) is lacking.

Methods And Results: We analyzed the Metabolic Exercise test data combined with Cardiac and Kidney Indexes (MECKI) score registry, which includes HF with reduced ejection fraction (HFrEF) patients. A cross-validation procedure was performed to estimate weights separately for men and women of all MECKI score parameters: left ventricular ejection fraction (LVEF), hemoglobin, kidney function assessed by Modification of Diet in Renal Disease, blood sodium level, ventilation vs.

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  • Heart transplantation (HTx) has been around for over 50 years, yet there's a lack of guidelines for post-transplant prevention and rehabilitation practices.
  • The statement emphasizes the need for tailored prevention and rehabilitation programs that consider both modifiable and non-modifiable factors to enhance the physical capacity and quality of life for HTx recipients.
  • It advocates for a multidisciplinary approach involving all members of the HTx team to support patients throughout their recovery journey, highlighting the importance of starting these programs early after transplantation.
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  • This study used machine learning to classify subtypes of schizophrenia by analyzing brain images from over 4,000 patients and healthy individuals through international collaboration.* -
  • Researchers identified two neurostructural subgroups: one with predominant cortical loss and enlarged striatum, and another with significant subcortical loss in areas like the hippocampus and striatum.* -
  • The findings suggest this new imaging-based classification could redefine schizophrenia based on biological similarities, enhancing our understanding and treatment of the disorder.*
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Objective: For patients with T1b gallbladder cancer or greater, an adequate lymphadenectomy should include at least 6 nodes. Studies comparing short- and long-term outcomes of the open approach with those of laparoscopy and robotic approaches are limited, with small sample sizes, and there are none comparing laparoscopic and robotic approaches. This study compared patients who underwent robotic, laparoscopic, and open resection of gallbladder cancer, evaluating short- and long-term outcomes.

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Am J Hum Genet

August 2024

Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address:

The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.

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