A Meta-Analysis of Mitral Surgery in Patients Undergoing Surgery for Anomalous Left Coronary Artery: When to Perform Repair?

The present study is the first meta-analysis comparing long-term outcomes in patients undergoing correction for anomalous left coronary artery (ALCAPA) regarding concomitant mitral valve surgery. A systematic literature review was conducted to identify all relevant studies with comparative data on mitral valve surgery performed during surgery for ALCAPA correction. Predefined primary end points included mortality and mitral valve (re)operation.

Entry into the lytic cycle exposes EBV-infected cells to NK cell killing via upregulation of the MICB ligand for NKG2D and activation of the CD56 and NKG2AKIRCD56 subsets.

The Epstein-Barr virus (EBV) is usually acquired during infancy as an asymptomatic infection and persists throughout life in a latent state under the control of the host immune system. However, EBV is associated with various malignant diseases that preferentially develop in immunodeficient individuals. Accumulating evidence suggests an important role for NK cells, though the mechanisms by which EBV evades or triggers NK cell responses are poorly understood.

Comparison between two artificial intelligence models to discriminate cancerous cell nuclei based on confocal fluorescence imaging in hepatocellular carcinoma.

Background: Hepatocellular carcinoma (HCC) exhibits an exceptional intratumoral heterogeneity that might influence diagnosis and outcome. Advances in digital microscopy and artificial intelligence (AI) may improve the HCC identification of liver cancer cells.

Aim: Two AI algorithms were designed to perform computer-assisted discrimination of tumour from non-tumour nuclei in HCC.

Gonadotropin therapy for mini-puberty induction in male infants with hypogonadotropic hypogonadism: a systematic review.

Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

Transcatheter ablation of atrioventricular nodal reentry tachycardia in children and congenital heart disease in the era of 3D mapping.

Atrioventricular nodal reentrant tachycardia (AVNRT) is a common supraventricular tachycardia in children and congenital heart disease (CHD) patients. Nowadays, in large enough children, chronic treatment for symptomatic and recurrent AVNRT episodes relies on transcatheter ablation. Indeed, many three-dimensional (3D) mapping strategies and ablation techniques have been developed and it helped to increase success rates and to reduce complications.

Validation of the schema coping inventory for dysfunctional coping strategies.

Introduction: According to the theoretical model of Schema Therapy, each human being has basic needs that require natural satisfaction from childhood. When these emotional needs are frustrated, early maladaptive schemas (EMS) develop, leading to coping styles that are strategies to manage the pain caused by activated EMS. The study validates and standardizes the Schema Coping Inventory in the Italian population and evaluates correlations between psychological variables and the SCI.

Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature.

Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β-catenin and S100.

NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients.

Introduction: The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

International consensus statement on microbiome testing in clinical practice.

There is growing interest in the potential exploitation of the gut microbiome as a diagnostic tool in medicine, but evidence supporting its clinical usefulness is scarce. An increasing number of commercial providers offer direct-to-consumer microbiome diagnostic tests without any consensus on their regulation or any proven value in clinical practice, which could result in considerable waste of individual and health-care resources and potential drawbacks in the clinical management of patients. We convened an international multidisciplinary expert panel to standardise best practices of microbiome testing for clinical implementation, including recommendations on general principles and minimum requirements for their provision, indications, pre-testing protocols, method of analyses, reporting of results, and potential clinical value.

Early decrease of T-bet B cells during subcutaneous belimumab predicts response to therapy in systemic lupus erythematosus patients.

Systemic lupus erythematosus (SLE) is characterized by B cell dysregulation and expansion of atypical B cells that may correlate with disease manifestations and activity. This study investigated the impact of subcutaneous (sc) Belimumab (BLM) on the peripheral B cell compartment and on the functional properties of CD21, T-bet and CD11c atypical B cells, in 21 active SLE patients over a 12-month period. At baseline, active SLE patients displayed reduced unswitched IgM memory B cells and expansion of atypical B cells, compared to healthy donors and to SLE patients in remission.

Deafness and Specific Learning Disorder: towards a possible comorbidity.

Background And Aim: Most children and adolescents with deafness receive one or two cochlear implants (CIs). Despite the CI expanding the potential for auditory rehabilitation in deaf children, the improvements in language and literacy skills of some of these children do not align with the expected outcomes. As the main research question, we wondered if the reading and writing deficits reported in some deaf children with CIs may be characterized as a domain-specific learning disorder, rather than only a consequence of deafness.

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants.

Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI).

Background: Inborn errors of immunity (IEIs) are more than 500 different rare congenital disorders of the immune system characterized by susceptibility to infections and immune dysregulation. The significant overlap of the clinical features among the different forms may lead to diagnostic delay. High throughput sequencing techniques may allow a timely genetic definition.

How do we transfuse children in Italy? Results of a national survey.

Background: Adherence to optimal practices in the preparation and issuance of pediatric blood components can significantly influence patient care outcomes. This study aims to examine the blood banking procedures across prominent Italian children's hospitals, with the goal of identifying both consistent and potentially divergent standards within this field.

Materials And Methods: A survey was conducted among the blood banks affiliated with the Italian Association of Pediatric Hospitals.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

The dual role of toll-like receptors in COVID-19: Balancing protective immunity and immunopathogenesis.

Toll-like receptors (TLRs) of human are considered as the most critical immunological mediators of inflammatory pathogenesis of COVID-19. These immunoregulatory glycoproteins are located on the surface and/or intracellular compartment act as innate immune sensors. Upon binding with distinct SARS-CoV-2 ligand(s), TLRs signal activation of different transcription factors that induce expression of the proinflammatory mediators that collectively induce 'cytokine storm'.