Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

We describe a patient affected by congenital stationary night blindness (CSNB) secondary to CACNA1F and optic neuropathy associated with an AFG3L2 variant. We performed comprehensive neuro-ophthalmologic examinations, retinal imaging, complete ocular electrophysiology, and brain and optic nerve MRI. Genomic DNA was extracted from the peripheral blood.

The TOG5 domain of CKAP5 is required to interact with F-actin and promote microtubule advancement in neurons.

Microtubule (MT) and F-actin cytoskeletal cross-talk and organization are important aspects of axon guidance mechanisms, but how associated proteins facilitate this function remains largely unknown. While the MT-associated protein, CKAP5 (XMAP215/ch-TOG), has been best characterized as a MT polymerase, we have recently highlighted a novel role for CKAP5 in facilitating interactions between MT and F-actin and in embryonic neuronal growth cones. However, the mechanism by which it does so is unclear.

Video Color OCT Angiography for Myopic Choroidal Neovascularization.

Purpose: To investigate the myopic macular neovascularization (mMNV) features on dynamic video color OCT angiography (OCTA) and the diagnostic rate versus the static, 4-segmentations visualization mode.

Design: Retrospective cohort study.

Participants: Fifty-four patients with mMNV.

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Inherited retinal diseases (IRDs) represent a frequent cause of blindness in children and adults. As a consequence of the phenotype and genotype heterogeneity of the disease, it is difficult to have a specific diagnosis without molecular testing. To date, over 340 genes and loci have been associated with IRDs.

Current perspectives in obesity management: unraveling the impact of different therapy approach in real life obesity care.

Background: The challenge of addressing obesity persists in healthcare, necessitating nuanced approaches and personalized strategies. This study aims to evaluate the effects of diverse therapeutic interventions on anthropometric and biochemical parameters in individuals with overweight and obesity within a real-world clinical context.

Methods: A retrospective analysis was conducted on 192 patients (141 females, 51 males) aged 18 to 75, with a BMI ranging from 25 to 30 (14.

Expression of immune-related genes and breast cancer recurrence in women with ductal carcinoma in situ.

Background And Aim: Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive breast cancer with highly variable clinical behavior, but risk stratification is still challenging. We sought to identify immune-related gene expression signatures of pure DCIS associated with different risks of breast cancer recurrence.

Methods: A retrospective nested case-control study of 143 pure DCIS was performed including 70 women with subsequent ipsilateral breast event (IBE, in situ or invasive; cases) and 73 DCIS women with no IBE and matched for age, tumor size, treatment, hormone receptors/HER2 status, and follow-up time (controls).

Integrative approaches in spinal cord stimulation: Neuropathic pain management and motor recovery in spinal cord injury. A narrative review.

Introduction: Spinal cord stimulation is a widespread treatment of chronic neuropathic pain from different conditions. Several novel and improving technologies have been recently developed to increase the effect of neuromodulation in patients refractory to pharmacological therapy.

Research Question: To explore spinal cord stimulation's mechanisms of action, indications, and management.

Fluoroscopy-Assisted Freehand Versus 3D-Navigated Imaging-Assisted Pedicle Screw Insertion: A Multicenter Study.

Introduction: Pedicle screw placement is a widely accepted surgical procedure for spinal fixation. Despite increases in knowledge about and expertise in pedicle screw insertion techniques, overall reported screw misplacement rates are still high. Spinal neuronavigation and intraoperative computed tomography (CT) imaging improves the accuracy and safety of pedicle screw placement through the continuous monitoring of screw trajectory.

Image-Guided Surgery in Complex Skull Base and Facial Fractures: Initial Experience on the Role of Intra-Operative Computer Tomography.

Surgery of fractures involving the skull base and the facial skeleton often presents challenges that should be addressed to prevent secondary brain injuries (i.e., cerebro-spinal fluid leak), preserve visual functioning, and guarantee a good esthetic result.

Association between Contrast-Enhanced Computed Tomography Radiomic Features, Genomic Alterations and Prognosis in Advanced Lung Adenocarcinoma Patients.

Non-invasive methods to assess mutational status, as well as novel prognostic biomarkers, are warranted to foster therapy personalization of patients with advanced non-small cell lung cancer (NSCLC). This study investigated the association of contrast-enhanced Computed Tomography (CT) radiomic features of lung adenocarcinoma lesions, alone or integrated with clinical parameters, with tumor mutational status (, , alterations) and Overall Survival (OS). In total, 261 retrospective and 48 prospective patients were enrolled.

Sports activity limitation during the COVID-19 pandemic in young Italian athletes: impact on mental health in children, adolescents, and young adults.

Introduction: The closure of sports centres was implemented as a preventive measure to mitigate the transmission of SARS-CoV-2. Given the observed global decline in physical activity and concurrent rise in sedentary behaviour, even among younger age groups, a retrospective cross-sectional study was undertaken to evaluate the effects of this measure on mental health in children, adolescents, and young adults during the initial phases of the COVID-19 pandemic.

Methods: A total of 1,717 non-professional athletes (age range: 6-25; 53.

Design and Use of a 3D-Printed Dynamic Upper Extremity Orthosis for Children With Cerebral Palsy and Severe Upper Extremity Involvement: A Pilot Study.

Importance: Children with cerebral palsy (CP) and severe hand impairment have limited options for upper extremity (UE) orthoses.

Objective: To (1) design and fabricate a customized low-cost, functional, three-dimensional (3D) printed dynamic upper extremity orthosis (DUEO) and (2) examine, using a comprehensive evaluation, the effect of the orthosis on the UE function of children with unilateral UE CP, Manual Ability Classification System (MACS) Levels III to V.

Design: Pilot study.

PIWI-RNAs Small Noncoding RNAs with Smart Functions: Potential Theranostic Applications in Cancer.

P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are a new class of small noncoding RNAs (ncRNAs) that bind components of the PIWI protein family. piRNAs are specifically expressed in different human tissues and regulate important signaling pathways. Aberrant expressions of piRNAs and PIWI proteins have been associated with tumorigenesis and cancer progression.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Background: Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by mutations in one of the five EIF2B genes. Adult-onset (AO) cases are rare.

Methods: In this observational study, we reviewed clinical and laboratory information of the patients with AO-LVWM assessed at two referral centers in Italy and Portugal from Jan-2007 to Dec-2019.

Blood- and Imaging-Derived Biomarkers for Oncological Outcome Modelling in Oropharyngeal Cancer: Exploring the Low-Hanging Fruit.

Aims: To assess whether CT-based radiomics and blood-derived biomarkers could improve the prediction of overall survival (OS) and locoregional progression-free survival (LRPFS) in patients with oropharyngeal cancer (OPC) treated with curative-intent RT.

Methods: Consecutive OPC patients with primary tumors treated between 2005 and 2021 were included. Analyzed clinical variables included gender, age, smoking history, staging, subsite, HPV status, and blood parameters (baseline hemoglobin levels, neutrophils, monocytes, and platelets, and derived measurements).

Metabolic delineation of IDH1 wild-type glioblastoma surgical anatomy: how to plan the tumor extent of resection.

Purpose: Magnetic resonance imaging (MRI) is the current standard for preoperative planning of glioblastoma (GBM) surgery. However, recent data on the use of  C-methionine positron emission tomography ([C]-MET PET) suggest its role in providing additional information beyond MRI. The purpose of this study is to establish if there is a correlation between anatomical and metabolic data.

The role of radiomics in tongue cancer: A new tool for prognosis prediction.

Background: Radiomics represents an emerging field of precision-medicine. Its application in head and neck is still at the beginning.

Methods: Retrospective study about magnetic resonance imaging (MRI) based radiomics in oral tongue squamous cell carcinoma (OTSCC) surgically treated (2010-2019; 79 patients).

Rate of Hospitalizations and Mortality of Respiratory Syncytial Virus Infection Compared to Influenza in Older People: A Systematic Review and Meta-Analysis.

Respiratory Syncytial Virus (RSV) is commonly regarded as an infection typical of children, but increasing literature is showing its importance in older people. Since the data regarding the impact of RSV are still limited for older people, the aim of this systematic review and meta-analysis is to compare the rate of hospitalization and mortality between RSV and influenza in this population. A systematic literature search until 15 June 2022 was done across several databases and including studies reporting incidence rate and cumulative incidence of hospitalization and mortality in RSV and influenza affecting older people.

Emerging noncoding RNAs contained in extracellular vesicles: rising stars as biomarkers in lung cancer liquid biopsy.

Lung cancer has a high morbidity and mortality rate, and affected patients have a poor prognosis and low survival. The therapeutic approaches for lung cancer treatment, including surgery, radiotherapy, and chemotherapy, are not completely effective, due to late diagnosis. Although the identification of genetic drivers has contributed to the improvement of lung cancer clinical management, the discovery of new diagnostic and prognostic tools remains a critical issue.

Mesoporous Silica Particles Functionalized with Newly Extracted Fish Oil (Omeg@Silica) Reducing IL-8 Counteract Cell Migration in NSCLC Cell Lines.

Lung cancer is one of the leading forms of cancer in developed countries. Interleukin-8 (IL-8), a pro-inflammatory cytokine, exerts relevant effects in cancer growth and progression, including angiogenesis and metastasis in lung cancer. Mesoporous silica particles, functionalized with newly extracted fish oil (Omeg@Silica), are more effective than the fish oil alone in anti-proliferative and pro-apoptotic effects in non-small cell lung cancer (NSCLC) cell lines.

Anatomical distribution of cancer stem cells between enhancing nodule and FLAIR hyperintensity in supratentorial glioblastoma: time to recalibrate the surgical target?

It is ge nerally accepted that glioblastoma (GBM) arise from cancer stem cells (CSC); however, there is little evidence on their anatomical distribution. We investigated the expression and distribution of SOX-2-positive and CD133-positive CSCs both in the enhancing nodule (EN) of GBM and in the FLAIR hyperintensity zones on a surgical, histopathological series of 33 GBMs. The inclusion criterion was the intraoperative sampling of different tumor regions individualized, thanks to neuronavigation and positivity to intraoperative fluorescence with the use of 5-aminolevulinic acid (5-ALA).

Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous Mutations.

Mutations in granulin () have been associated with neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). In Portugal, mutations account for around half of all FTLD cases with known genetic origin. Here, we describe the generation and characterization of three human-induced pluripotent stem cell (hiPSC) lines from a Portuguese family harboring heterozygous and homozygous mutation.