Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group.

Haemochromatosis (HC) encompasses a range of genetic disorders. HFE-HC is by far the most common in adults, while non-HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain-of-function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood.

Derivation and validation of four patient clusters in Still's disease, results from GIRRCS AOSD-study group and AIDA Network Still Disease Registry.

Background: Different patient clusters were preliminarily suggested to dissect the clinical heterogeneity in Still's disease. Thus, we aimed at deriving and validating disease clusters in a multicentre, observational, prospective study to stratify these patients.

Methods: Patients included in GIRRCS AOSD-study group and AIDA Network Still Disease Registry were assessed if variables for cluster analysis were available (age, systemic score, erythrocyte sedimentation rate (ESR), C reactive protein (CRP) and ferritin).

Acute symptomatic seizures after stroke: A scoping review on primary prevention, treatment with antiseizure medications and drug discontinuation.

Aim: To evaluate and synthesize the evidence and knowledge gaps on primary prevention and treatment of post-stroke acute symptomatic seizures (ASSs) using antiseizure medications (ASMs).

Methods: We systematically searched of EMBASE, MEDLINE (accessed from PubMed), and the Cochrane Central Register of Controlled Trials (CENTRAL) to include randomized, double- or single-blinded trials (RCTs) on primary prophylaxis and treatment of post-stroke ASSs with ASMs. The risk of bias in the included studies was assessed according to the recommendations of the Cochrane Handbook for Systematic Reviews of Interventions.

A shift in psychiatry through AI? Ethical challenges.

The digital transformation has made its way into many areas of society, including medicine. While AI-based systems are widespread in medical disciplines, their use in psychiatry is progressing more slowly. However, they promise to revolutionize psychiatric practice in terms of prevention options, diagnostics, or even therapy.

Increasing Soluble P-Selectin Levels Predict Higher Peripheral Atherosclerotic Plaque Progression.

Background And Aims: The adhesion molecule P-selectin is expressed by endothelial cells and platelets. It is involved in platelet activation and leukocyte adhesion, both important processes in the pathogenesis of atherosclerosis. Our study was designed to assess the predictive value of soluble P-selectin (sP-selectin) on the progression of peripheral atherosclerosis.

Efficacy of citicoline as a supplement in glaucoma patients: A systematic review.

Purpose: Glaucoma is a leading cause of irreversible blindness worldwide. Retinal ganglion cells (RGC), the neurons that connect the eyes to the brain, specifically die in glaucoma, leading to blindness. Elevated intraocular pressure (IOP) is the only modifiable risk factor, however, many patients progress despite excellent IOP control.

Antibiotic prophylaxis for ophthalmia neonatorum in Italy: results from a national survey and the Italian intersociety new position statements.

Background: Ophthalmia neonatorum is an acute conjunctivitis that occurs in newborns within the first month of life. The most serious infections are due to Chlamydia trachomatis and Neisseria gonorrhoeae, that may cause permanent damages. The use of ophthalmic prophylaxis varies widely around the world, according to the different health and socio-economic contexts.

Applications of Artificial Intelligence and Radiomics in Molecular Hybrid Imaging and Theragnostics for Neuro-Endocrine Neoplasms (NENs).

Nuclear medicine has acquired a crucial role in the management of patients with neuroendocrine neoplasms (NENs) by improving the accuracy of diagnosis and staging as well as their risk stratification and personalized therapies, including radioligand therapies (RLT). Artificial intelligence (AI) and radiomics can enable physicians to further improve the overall efficiency and accuracy of the use of these tools in both diagnostic and therapeutic settings by improving the prediction of the tumor grade, differential diagnosis from other malignancies, assessment of tumor behavior and aggressiveness, and prediction of treatment response. This systematic review aims to describe the state-of-the-art AI and radiomics applications in the molecular imaging of NENs.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the Genes.

Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified for this condition is correlated to SHFM1 and maps in the 7q21q22 region.

B-mode transorbital ultrasonography for the diagnosis of idiopathic intracranial hypertension: an updated systematic review and meta-analysis.

Objectives: This systematic review and meta-analysis aimed to evaluate the role of B-mode transorbital ultrasonography (TOS) for the diagnosis of idiopathic intracranial hypertension (IIH) in adults.

Methods: MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL) (1966-May 2022) were searched to identify studies reporting ultrasonographic data about the optic nerve sheath diameter (ONSD) and optic disc elevation (ODE) in adults with IIH compared to subjects without IIH. The quality of the included studies was evaluated by the Newcastle-Ottawa Quality.

Acute symptomatic status epilepticus: Splitting or lumping? A proposal of classification based on real-world data.

This study aimed to group acute symptomatic etiologies of consecutive episodes of status epilepticus (SE) into different subcategories and explore their associations with clinical outcome. Etiologies were first categorized as "acute," "remote," "progressive," "SE in defined electroclinical syndromes," and "unknown." Four subcategories of acute etiologies were then defined: (1) withdrawal, low levels, or inappropriate prescription of antiseizure medications, or sleep deprivation in patients with pre-existing epilepsy; (2) acute insults to central nervous system (CNS; "acute-primary CNS"); (3) CNS pathology secondary to metabolic disturbances, systemic infection, or fever ("acute-secondary CNS"); and (4) drug/alcohol intoxication or withdrawal.

A 52-week multicenter retrospective real-world study on effectiveness and safety of dupilumab in children with atopic dermatitis aged from 6 to 11 years.

Dupilumab has been shown to be a safe and effective drug for the treatment of atopic dermatitis (AD) in children from 6 months to 11 years in randomized clinical trials. Aim: The aim of this real-life study was to determine the effectiveness in disease control and safety of dupilumab at W52 in moderate-to-severe AD children aged 6-11 years. All data were collected from 36 Italian dermatological or paediatric referral centres.

A bicentric cohort study comparing umbilical cord and neonatal blood samples for chemistry tests at birth.

Objectives: To compare umbilical cord and neonatal blood for chemistry tests upon admission to the neonatal intensive care unit (NICU).

Methods: We designed a prospective, bicentric cohort study enrolling newborns (n = 71) with a planned admission to the NICU. Paired samples of umbilical cord and infant's blood were collected, analyzed, and compared.

Real-life comparison of mortality in patients with SARS-CoV-2 infection at risk for clinical progression treated with molnupiravir or nirmatrelvir plus ritonavir during the Omicron era in Italy: a nationwide, cohort study.

Background: Comparative data on mortality in COVID-19 patients treated with molnupiravir or with nirmatrelvir plus ritonavir are inconclusive. We therefore compared all-cause mortality in community-dwelling COVID-19 patients treated with these drugs during the Omicron era.

Methods: Data collected in the nationwide, population-based, cohort of patients registered in the database of the Italian Medicines Agency (AIFA) were used.

Actinomyces meyeri Causing Cerebral Abscess in a Patient on Methotrexate: A Rare Case Report and Systematic Review of the Literature.

Central nervous system (CNS) actinomycosis is a rare, serious, life-threatening, suppurative infection caused by Actinomyces species. Actinomyces are anaerobic Gram-positive bacteria, which can be normally isolated from the polymicrobial flora of the gastrointestinal- and genital tracts. They are considered very low virulent bacteria to humans.

Inverse Correlation of Cholesterol Efflux Capacity with Peripheral Plaque Volume Measured by 3D Ultrasound.

Introduction: Cardiovascular disease (CVD) is a systemic multifocal illness called atherosclerosis that causes artery constriction and blockage. By causing cholesterol to build up in the artery wall, hypercholesterolemia is a major factor in the pathophysiology of atherosclerotic plaque development. Reverse cholesterol transport is the process of transporting cholesterol from the periphery back to the liver through cholesterol efflux mediated by high-density lipoprotein (HDL).

Efficacy of hydrodilatation in frozen shoulder: a systematic review and meta-analysis.

Introduction: It is unclear whether hydrodilatation is beneficial in the management of frozen shoulder compared with other common conservative management modalities. This systematic review evaluates the efficacy of hydrodilatation for the management of frozen shoulder.

Sources Of Data: A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Pathologic response and survival after neoadjuvant chemotherapy with or without pertuzumab in patients with HER2-positive breast cancer: the Neopearl nationwide collaborative study.

Purpose: Clinical trials have shown a significant increase in pathologic complete response (pCR) with the addition of pertuzumab to neoadjuvant chemotherapy for patients with early-stage HER-2 positive breast cancer. To date, limited studies have examined comparative outcomes of neoadjuvant pertuzumab in real-world setting. The Neopearl study aimed to assess comparative real-life efficacy and safety of neoadjuvant pertuzumab for these patients.