Review: Efficacy of preventative interventions for children and adolescents at clinical high risk of psychosis - a systematic review and meta-analysis of intervention studies.

Background: Despite evidence suggesting that age moderates the response to preventative treatment for those at clinical high risk of psychosis (CHR-P), no meta-analysis has assessed the effectiveness of preventative interventions for CHR-P children and adolescents. Our aim was to synthesise evidence assessing preventative interventions on a wide range of mental health outcomes for CHR-P children and adolescents.

Method: A systematic search was conducted on Ovid MEDLINE, Pubmed, APA PsycInfo and Web of Science until June 2024 (PROSPERO: CRD42023406696).

Asymmetrical evolution of promoter methylation of mammalian genes after duplication.

Even though gene duplication is a key source of new genes and evolutionary innovation, it is unclear how duplicates survive the period immediately following gene duplication, in which both copies are functionally redundant. In the absence of epigenetic silencing, the abundance of the gene product would double after gene duplication, which would often have deleterious effects. However, recent duplicates exhibit low expression levels, which could be at least partially explained by high levels of promoter methylation.

Stage 1 Extensive Macular Atrophy with Pseudodrusen-Like Appearance Complicated by Multiple Evanescent White Dot Syndrome-Like Reaction.

Purpose: To describe a case of early-stage Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) presenting with acute monocular loss and atypical retinal lesions suggestive of posterior uveitis.

Methods: Case report with longitudinal follow-up including visual field testing and multimodal imaging.

Results: A 53-year-old woman presented with sudden vision loss in her right eye (RE).

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

The Non-Linear Profile of Aging: U-Shaped Expression of Myostatin, Follistatin and Intermediate Signals in a Longitudinal In Vitro Murine Cell Sarcopenia Model.

Sarcopenia is linked to the decline in muscle mass, strength and function during aging. It affects the quality and life expectancy and can lead to dependence. The biological process underlying sarcopenia is unclear, but the proteins myostatin and follistatin are involved in the balance between muscle breakdown and synthesis.

Recommendations for the use of nuclear medicine imaging in patients with neuroblastoma.

Neuroblastoma (NB) is the most common extracranial solid cancer in children. Despite intensive multimodality treatment, long-term survival of patients with high-risk NB, which comprises more than half of all cases, remains poor. Nuclear medicine is key in diagnosis, staging, response assessment and long-term follow-up of NB.

Clinical and microbiological characteristics of Eggerthella lenta causing bacteremia.

Eggerthella lenta is an obligate anaerobic, Gram-positive bacilli, belonging to the human microbiota of gastrointestinal and female reproductive tracts, oral cavity and prostate gland. In this article, we aim to describe clinical and microbiological characteristics of seven E. lenta strains causing bacteremia.

Exploring the reactivity of bicyclic α-iminophosphonates to access new imidazoline I receptor ligands.

Recent studies pointed out the modulation of imidazoline I receptors (I-IR) by selective ligands as a putative strategy to face neurodegenerative diseases. Foregoing the classical 2-imidazoline/imidazole-containing I-IR ligands, we report a family of bicyclic α-iminophosphonates endowed with high affinity and selectivity upon I-IR and we advanced a representative compound B06 in preclinical phases. In this paper, we describe the synthetic possibilities of bicyclic α-iminophosphonates by exploring its ambivalent reactivity, leading to unprecedented molecules that showed promising activities as I-IR ligands in human brain tissues and good BBB permeation capabilities.

Types, behaviour and therapeutic requirements of inflammatory pouch disorders: Results from the RESERVO study of GETECCU.

Background And Aims: Inflammatory pouch disorders exhibit a heterogeneous clinical spectrum and therapeutic requirements have not been properly studied.

Methods: This retrospective, multicentre study included ulcerative colitis patients with ileal pouch construction and were later diagnosed with an inflammatory pouch disorder between 1995 and 2020. Classifications, behaviour and therapies applied were recorded and compared in the long-term.

Autonomic nervous system education in Europe: EAN/EFAS/INUS survey on curricula and skills in autonomic medicine of European neurology residents and consultants.

Background And Purpose: Centers for training in autonomic nervous system (ANS) disorders are not widely available and the recent coronavirus 2019 pandemic temporarily reduced training opportunities in autonomic medicine across European countries. Here we evaluated the current state of education, clinical skills and postgraduate educational preferences on ANS disorders of European neurology residents and consultants.

Methods: A 23-item questionnaire was developed and distributed online amongst European neurology residents and consultants via mailing lists of the European Academy of Neurology.

MYC-rearranged mature B-cell lymphomas in children and young adults are molecularly Burkitt Lymphoma.

Aggressive B-cell non-Hodgkin lymphomas (NHL) in children, adolescents, and young adults (CAYA) include Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and a subset of high-grade tumors with features intermediate between these entities whose genetic and molecular profiles have not been completely elucidated. In this study, we have characterized 37 aggressive B-NHL in CAYA, 33 with high-grade morphology, and 4 DLBCL with MYC rearrangement (MYC-R), using targeted next-generation sequencing and the aggressive lymphoma gene expression germinal center B-cell-like (GCB), activated B-cell-like (ABC), and dark zone signatures (DZsig). Twenty-two tumors had MYC-R without BCL2 breaks, and two MYC-non-R cases had BCL6 translocations.

Experimental models as a tool for research on sarcopenia: A narrative review.

Sarcopenia is a musculoskeletal disorder related to muscle mass and function; as the worldwide population ages, its growing prevalence means a decline in quality of life and an increased burden for public health systems. As sarcopenia is a reversible condition, its early diagnosis is of utmost importance. Consensus definitions and diagnosis protocols for sarcopenia have been evolving for a long time, and the identification of molecular pathways subjacent to sarcopenia is a growing research area.

Elucidating the mechanisms and efficacy of antimalarial drugs in systemic lupus erythematosus.

Introduction: Antimalarials (AMs) are old drugs with a wide range of beneficial effects in systemic lupus erythematosus (SLE) beyond the control of activity. The most recent debate is focused on defining the optimal doses to assure the best benefit/risk ratio.

Areas Covered: We have reviewed the pharmacological basis underlying the various therapeutic effects of AMs and the beneficial and toxic effects of HCQ, also discussing the role of mepacrine not only as a substitute in cases of maculopathy, but also as a very effective therapy combined with HCQ.

Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke.

Background: Ischemic stroke (IS) represents a significant health burden globally, necessitating a better understanding of its genetic underpinnings to improve prevention and treatment strategies. Despite advances in IS genetics, studies focusing on the Spanish population and sex-stratified analyses are lacking.

Methods: A case-control genome-wide association study was conducted with 9081 individuals (3493 IS cases and 5588 healthy controls).