Anderson-Fabry Disease: Focus on Ophthalmological Implications.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.

Development of a Wearable Electromyographic Sensor with Aerosol Jet Printing Technology.

Electromyographic (EMG) sensors are essential tools for analyzing muscle activity, but traditional designs often face challenges such as motion artifacts, signal variability, and limited wearability. This study introduces a novel EMG sensor fabricated using Aerosol Jet Printing (AJP) technology that addresses these limitations with a focus on precision, flexibility, and stability. The innovative sensor design minimizes air interposition at the skin-electrode interface, thereby reducing variability and improving signal quality.

Microwave-Energy-Based Device for the Treatment of Cellulite and Localized Adiposity: Recommendations of the "Onda Coolwaves" International Advisory Board.

The body contour market has grown rapidly in recent years, due to persistent requests for noninvasive treatments for localized fat adiposities, cellulite, and skin laxity. A variety of different methods are now available to improve body shaping. This review aims to provide an exhaustive compendium of the main recommendations for the optimal use of an innovative device delivering microwaves (MWs) for unwanted fat and cellulite reduction (Onda Coolwaves, DEKA, Florence, Italy), resulting from the experiences of the most expert international users.

Evaluation of the Effectiveness of Different Types of Professional Tooth Whitening: A Systematic Review.

Background/objectives: Tooth whitening is a cosmetic dental treatment that improves the color of natural teeth, making them whiter and brighter; this review aimed to evaluate the greater effectiveness of in-office, at-home, and combined bleaching with hydrogen or carbamide peroxide, also in relation to possible relapses and side effects (tooth sensitivity).

Methods: A literature search has been carried out through electronic databases, PubMed/MEDLINE, and Cochrane Library, focused on the use of the effectiveness of in-office, at-home, and combined dental bleaching. This review has been registered on PROSPERO (ID613248).

Treatment Outcomes and Toxicities of Multiple Tyrosin Kinase Inhibitors for Metastatic Medullary Thyroid Cancer: A Case Series.

: The current possible treatments of advanced medullary carcinoma (MTC) include different drugs belonging to the class of tyrosine kinase inhibitors (TKIs): vandetanib, cabozantinb, and selpercatinib. Although the effects of these TKIs have been well described in clinical trials, the real-practice evidence of the effectiveness and safety of these treatment is scant. This real-world case series aims to describe a niche of patients with advanced MTC treated with more than one TKI by focusing on treatment responses and any reported adverse events (AEs) and to provide additional insight on the individualized approach to the management of metastatic MTC.

Chemerin and Polycystic Ovary Syndrome: A Comprehensive Review of Its Role as a Biomarker and Therapeutic Target.

Chemerin, an adipokine implicated in inflammatory, metabolic, and adipogenic processes, has been detected in high serum concentration in women with polycystic ovary syndrome (PCOS) and seems to play a role in PCOS pathogenesis. Moreover, at present, no comprehensive and critical document is available in the literature on this topic. The aim of the current study was to comprehensively review the latest available data to confirm the evidence about the association between chemerin and PCOS, highlighting its potential role as an upcoming biomarker and therapeutic target.

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.

Neuropsychological Effects of the Lockdown Due to the COVID-19 Pandemic on Patients with Alzheimer's Disease and Their Caregivers: The "ACQUA" (Alzheimer-COVID QUArantine Questionnaire) Study.

Background: The lockdown due to the COVID-19 pandemic, imposed in many countries in 2021, led to social isolation and the interruption of many activities that were useful in stimulating cognition. The impact of these changes has been particularly severe in older subjects with cognitive impairment.

Methods: The present study aimed to investigate the effects of lockdown on Alzheimer's disease patients (in cognition, behavior, and autonomy) and on their caregivers (in emotions, burden, and quality of life).

Neuromodulation Strategies in Lifelong Bipolar Disorder: A Narrative Review.

Bipolar disorder is a debilitating psychiatric condition characterized by recurrent episodes of mania and depression, affecting millions worldwide. While pharmacotherapy remains the cornerstone of treatment, a significant proportion of patients exhibit inadequate response or intolerable side effects to conventional medications. In recent years, neuromodulation techniques have emerged as promising adjunctive or alternative treatments for bipolar disorder.

It Looks Like a Zebra but Is Not: [F]FDG PET/CT in a Giant Cutaneous Malignant Melanoma Mimicking Squamous Cell Carcinoma.

Cutaneous malignant melanoma (MM) is the most aggressive form of skin cancer, associated with high mortality and rising incidence rates in Europe despite prevention efforts. Nodular MM, the most aggressive subtype, often mimics other skin tumors, complicating diagnosis. We present the case of a 66-year-old woman with a large, ulcerated tumor beneath the left scapula, along with multiple nodular lesions on the left arm and chest.

Temporary Flow Diversion in Oncological Embolization Procedures Using Degradable Starch Microspheres.

Objectives: This study aims to report on the application of degradable starch microspheres to provide flow diversion by means of temporary embolization of healthy tissues in oncological endovascular procedures when tumor feeding vessels are not selectively accessible.

Methods: This is a multicenter retrospective analysis of patients undergoing visceral embolization procedures of malignancies. The inclusion criteria were as follows: flow diversion performed by injection of degradable starch microspheres, visceral embolization procedures with unfeasible superselective catheterism of the target, and a malignant pathology.

Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.

: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.

Obsessive-Compulsive Symptoms in the General Population Under Stressful Conditions: Lessons Learned from the COVID-19 Pandemic.

: The COVID-19 pandemic had a negative impact on mental health in the general population. The fear, stress, and uncertainty surrounding that traumatic period could have contributed to the aggravation or possible new onset of obsessive-compulsive symptoms. The COvid Mental hEalth Trial (COMET) is a nationwide project organized by the University of Campania "Luigi Vanvitelli", designed as an observational investigation that aimed to gather data from a representative sample of the Italian general population.

Remote Eye Movement Desensitization and Reprocessing Treatment of Long-COVID- and Post-COVID-Related Traumatic Disorders: An Innovative Approach.

The COVID-19 pandemic has led to increased mental health issues, particularly among long-COVID patients, who experience persistent symptoms post-recovery, potentially leading to chronic conditions. The psychological impact of long-COVID is still largely unknown, but it may contribute to mental disorders like Post-Traumatic Stress Disorder (PTSD). Given the global rise in anxiety and depression, exploring therapies like Eye Movement Desensitization and Reprocessing (EMDR) for long-COVID traumatic disorders is crucial.

"I Am Longing and Afraid to Depend on You": A Case Report on Breakdowns of Therapeutic Alliance and Interpersonal Cycles in Complex Trauma.

Background: Patients with Complex Trauma (CT) may have an impaired ability to trust others and build intimate relationships due to non-integrated representations of self and others. This sometimes leads to an oscillation between needing and fearing intimacy in their adult relationships. This dynamic can occur in the therapeutic relationship, undermining the effectiveness of therapy and affecting the mental health of both the patient and the therapist.

Decoding Schizophrenia: How AI-Enhanced fMRI Unlocks New Pathways for Precision Psychiatry.

Schizophrenia, a highly complex psychiatric disorder, presents significant challenges in diagnosis and treatment due to its multifaceted neurobiological underpinnings. Recent advancements in functional magnetic resonance imaging (fMRI) and artificial intelligence (AI) have revolutionized the understanding and management of this condition. This manuscript explores how the integration of these technologies has unveiled key insights into schizophrenia's structural and functional neural anomalies.

Enzymatic Synthesis of Biologically Active -Phosphinic Analogue of α-Ketoglutarate.

Amino acid analogues with a phosphorus-containing moiety replacing the carboxylic group are promising sources of biologically active compounds. The -phosphinic group, with hydrogen-phosphorus-carbon (H-P-C) bonds and a flattened tetrahedral configuration, is a bioisostere of the carboxylic group. Consequently, amino--phosphinic acids undergo substrate-like enzymatic transformations, leading to new biologically active metabolites.

Efficacy and Insights from an Extensive Series of Cytoreductive Surgery for Peritoneal Neoplasms: A High-Volume Single-Center Experience.

Advances in cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) and pressurized intraperitoneal aerosol chemotherapy (PIPAC) have improved outcomes for selected patients with peritoneal surface malignancies (PSMs). This retrospective study analyzed 743 PSM patients treated at Fondazione Policlinico Universitario Agostino Gemelli from January 2016 to February 2024. The primary aim was to assess median overall survival (mOS), median disease-free survival (mDFS), and median progression-free survival (mPFS) stratified by tumor origin.

The Potential Therapeutic Value of Aspirin in Anaplastic Thyroid Cancer.

several experimental findings and epidemiological observations indicated that aspirin/acetylsalicylic acid (ASA) may be endowed with anticancer effects against a variety of human malignancies, including thyroid carcinomas. Among these, undifferentiated/anaplastic thyroid carcinoma (ATC) is one of the most aggressive and lethal human cancers, refractory to all currently available therapies. we here evaluated in a preclinical setting the effects of ASA on a panel of three ATC-derived cell lines: the CAL-62, the 8305C, and the 8505C.

The Role of Lymphadenectomy in the Surgical Treatment of Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis.

: Lymphadenectomy in the operative management of hepatocellular carcinoma (HCC) remains controversial, with no recommendation for routine practice. Our study aimed to assess the effects of lymphadenectomy in addition to hepatic resection (HR) compared to HR alone for adults with HCC. : This systematic review was conducted according to PRISMA guidelines until March 2023, searching and selecting the relevant literature comparing lymph node dissection or sampling, combined with HR, and with no lymph node removal.

The Effect of Leaf Extract on C2C12 Myoblast Proliferation and Redox Status Under Oxidative Insult.

Skeletal muscle tissue can regenerate after damage through the action of satellite cells, which proliferate as myoblasts when activated. Oxidative stress, marked by high rates of reactive oxygen species (e.g.

The Protein Corona on Nanoparticles for Tumor Targeting in Prostate Cancer-A Review of the Literature and Experimental Trial Protocol.

The National Cancer Institute (NCI) recognizes the potential of technologies based on the use of nanoparticles (NPs) in revolutionizing clinical approaches to the diagnosis and prognosis of cancer. Recent research suggests that once NPs come into contact with the biological fluid of cancer patients, they are covered by proteins, forming a "protein corona" composed of hundreds of plasma proteins. The concept of a personalized, disease-specific protein corona, demonstrating substantial differences in NP corona profiles between patients with and without cancer, has been introduced.

Morphological and Redox/Glycative Alterations in the PCOS Oviducts: Modulating Effects of Carnitines in PCOS Mice.

Polycystic ovarian syndrome (PCOS) is a heterogeneous condition characterized by hyperandrogenism (HA), polycystic ovaries, and dysfunctional ovulation, and it is associated with metabolic problems such as insulin resistance (IR) and obesity. After having investigated the morphological and antioxidant/antiglycative alterations on mouse ovaries and uteri, we here focus on PCOS oviducts, a tract of the reproductive system essential for the nourishment and transport of gametes and embryos. The modulating effects of L-carnitine (LC) and acetyl-L-carnitine (ALC) were also assessed.

Gut TLRs and IFN pathway mRNA expression and frequencies of CD4 T Cell expressing CD38 or HLA-DR go in Parallel During HIV Immunopathogenesis.

Whereas much knowledge exists on the expression of IFN pathways in the blood of people living with HIV (PLWH), its role has only recently been appreciated in the gastrointestinal tract. Thus, the aim was to evaluate the gut mRNA expression levels of innate immune genes involved in the HIV-host interaction and their association with CD4 T cell activation in long-term HAART-experienced PLWH. PLWH had increased TLR4, IFN-α2, IFN-α14, IFN-β and IFNAR1 mRNAs levels in LPLs, as well as increased frequencies of CD4 T lymphocytes expressing CD38 or HLA-DR compared to the healthy donors.