Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.

Effects of benralizumab in patients with severe eosinophilic asthma (SEA): A plain language summary of the ANANKE study.

What Is This Summary About?: This summary outlines the findings from the ANANKE study on the treatment of patients with severe eosinophilic asthma (SEA) with benralizumab. SEA is an inflammatory disease of the lungs caused by eosinophils. Patients with SEA may experience asthma attacks (exacerbations) and decreased ability to breathe (lung function) despite taking medications.

The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL.

In this retrospective international multicenter study, we describe the clinical characteristics and outcomes of patients with chronic lymphocytic leukemia (CLL) and related disorders (small lymphocytic lymphoma and high-count monoclonal B lymphocytosis) infected by SARS-CoV-2, including the development of post-COVID condition. Data from 1540 patients with CLL infected by SARS-CoV-2 from January 2020 to May 2022 were included in the analysis and assigned to four phases based on cases disposition and SARS-CoV-2 variants emergence. Post-COVID condition was defined according to the WHO criteria.

Lymphadenopathy as a predictor of progression during venetoclax treatment in chronic lymphocytic leukemia. A campus chronic lymphocytic leukemia study.

Clinical or biological parameters useful to predict progression during treatment in real-life setting with ibrutinib, idelalisib and venetoclax in relapsed/refractory chronic lymphocytic leukemia (CLL) are still debated. We conducted a multi-center retrospective study on CLL patients treated with ibrutinib and/or idelalisib who were switched to venetoclax for progression or due to adverse events to identify any clinical and/or biological parameters useful to predict progression during treatment with venetoclax. Of all the 128 evaluable patients, 81 had received ibrutinib prior to switching to venetoclax, 35 had received idelalisib and 12 both.

A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.

PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.

Unmet needs and gaps in the identification of secondary progression in multiple sclerosis: a Southern Italy healthcare professionals' perspective.

Objective: Multiple sclerosis (MS) is a chronic disease with different clinical courses and a tendency to worsening. The relapsing-remitting MS presents acute onset and relapses of neurological symptoms, followed by their remission. This form can convert to secondary progressive MS (SPMS) with irreversible neurological worsening and disability.

Thrombotic and bleeding complications in patients with chronic lymphocytic leukemia and severe COVID-19: a study of ERIC, the European Research Initiative on CLL.

Background: Patients with chronic lymphocytic leukemia (CLL) may be more susceptible to COVID-19 related poor outcomes, including thrombosis and death, due to the advanced age, the presence of comorbidities, and the disease and treatment-related immune deficiency. The aim of this study was to assess the risk of thrombosis and bleeding in patients with CLL affected by severe COVID-19.

Methods: This is a retrospective multicenter study conducted by ERIC, the European Research Initiative on CLL, including patients from 79 centers across 22 countries.

COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study.

Patients with chronic lymphocytic leukemia (CLL) may be more susceptible to Coronavirus disease 2019 (COVID-19) due to age, disease, and treatment-related immunosuppression. We aimed to assess risk factors of outcome and elucidate the impact of CLL-directed treatments on the course of COVID-19. We conducted a retrospective, international study, collectively including 941 patients with CLL and confirmed COVID-19.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Cerebral folate transporter deficiency syndrome, caused by FOLR-1 mutations is characterized by late infantile onset, severe developmental regression, epilepsy, and leukodystrophy. An extremely low concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid provides a crucial clue to its diagnosis and is a treatment target. Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings.

Cardiac arrest in type II Kounis syndrome after oral intake of amoxicilline.

Background: Kounis syndrome (KS) is defined as the occurrence of an acute coronary syndrome related to allergic or hypersensitivity reaction. KS is currently classified into three variants, based on coronary arteries status. This syndrome is often neglected or misdiagnosed in clinical practice.

Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.

Purpose: Children with Childhood Absence Epilepsy (CAE) may develop generalized tonic-clonic seizure or juvenile myoclonic epilepsy. A possible evolution to Eyelid Myoclonia with Absence Epilepsy (EMA) hasn't been documented yet. We report the electroclinical features of a case series of children with CAE that evolved to EMA after therapy withdrawal.

Improving atomic displacement and replacement calculations with physically realistic damage models.

Atomic collision processes are fundamental to numerous advanced materials technologies such as electron microscopy, semiconductor processing and nuclear power generation. Extensive experimental and computer simulation studies over the past several decades provide the physical basis for understanding the atomic-scale processes occurring during primary displacement events. The current international standard for quantifying this energetic particle damage, the Norgett-Robinson-Torrens displacements per atom (NRT-dpa) model, has nowadays several well-known limitations.

[The APULIA HF multicenter study: efficacy of a management protocol shared between hospital and territorial health services for acute decompensated heart failure patients].

Background: The aim of this study was to demonstrate the efficacy of a management model to reduce hospitalizations in patients recently admitted for acute decompensated heart failure.

Methods: The management model was based on a close integration between hospital and territory health services. Clinical evaluation, ECG, echocardiographic findings, total body bioimpedance and brain natriuretic peptide serum levels were used to assess clinical stability of patients at discharge and during follow-up.

Analysis of Radiation Damage in Light Water Reactors: Comparison of Cluster Analysis Methods for the Analysis of Atom Probe Data.

Irradiation of reactor pressure vessel (RPV) steels causes the formation of nanoscale microstructural features (termed radiation damage), which affect the mechanical properties of the vessel. A key tool for characterizing these nanoscale features is atom probe tomography (APT), due to its high spatial resolution and the ability to identify different chemical species in three dimensions. Microstructural observations using APT can underpin development of a mechanistic understanding of defect formation.

Secondary bone marrow malignancies after adjuvant chemotherapy for breast cancer: a report of 2 cases and a review of the literature.

Purpose: Secondary malignancies are new cancers occurring in patients previously treated with radiation or chemotherapy for a primary tumor. Secondary cancers are not related to the primary tumor, and may develop months or years after cancer treatment: they are usually a result of the first cancer therapy. Chemotherapy and radiotherapy may increase the risk of second cancers, such as skin tumors (basal or squamous cell carcinoma) or acute leukemia.

Advancement in high dose therapy and autologous stem cell rescue in lymphoma.

Although advanced stage aggressive non-Hodgkin's lymphomas and Hodgkin's disease are thought to be chemotherapy-responsive cancers, a considerable number of patients either relapse or never attain a remission. High-dose therapy (HDT) followed by autologous stem cell transplantation (ASCT) is often the only possibility of cure for most of these patients. However, many controversial issues still remain with respect to HDT/ASCT for lymphomas, including its role for, the optimal timing of transplantation, the best conditioning regimen and the potential use of localized radiotherapy or immunologic methods to decrease post-transplant recurrence.