Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study.

Background: The use of next-generation sequencing in inborn errors of immunity (IEI) has considerably increased the identification of novel gene variants, many of which are identified in patients without the described clinical phenotype or with variants of uncertain pathogenic significance in previously described genes. Properly designed functional and cellular assays, many necessarily accomplished by research-based laboratories, reveal the pathogenic consequences of the gene variants and contribute to diagnosis. Activated PI3Kδ syndrome (APDS) is a rare disease that can be divided into APDS1, caused by gain of function (GOF) mutations in gene, and APDS2, with loss of function (LOF) variants in the gene.

Burden of incidental cerebral aneurysms on lifestyle and quality of life: a survey of patients in expectant management (the SPICE Study).

Background: The increasing availability of neuroimaging tests has led to a rise in the identification of incidental unruptured intracranial aneurysms (UIAs). Their management is under debate, with no consensus on their follow-up strategy, which can cause anxiety in patients. Our aim is to evaluate the impact of diagnosis and imaging follow-up on daily activities and quality of life.

Disease Modification in Asthma: Are We on the Right Way? A Multidisciplinary Expert Delphi Consensus (MODIASTHMA Consensus).

Purpose: With the advent of biological therapies, emerging concepts regarding establishing new targets in asthma management, such as disease modification, have entered the debate among the scientific community. The definitions that form the conceptual basis of this goal need to be agreed upon.

Methods: A multidisciplinary expert group was assembled as the steering committee.

Reflectance confocal microscopy for margin mapping of melanoma of the lentigo maligna type: A systematic review and meta-analysis.

Melanoma of the lentigo maligna (LM) type and its invasive counterpart, lentigo maligna melanoma (LMM), occur in chronically sun-damaged skin and tend to have subclinical extension that makes presurgical margin mapping challenging. Reflectance confocal microscopy (RCM) is a non-invasive imaging modality that enables in vivo visualization of the skin at the cellular level, allowing for adequate estimation of LM/LMM margins. We aimed to perform a systematic review and meta-analysis evaluating RCM's performance compared with histopathology in margin mapping of LM/LMM.

Rate of hepatitis C reinfection after successful direct-acting antivirals treatment among people who inject drugs in Spain: the LIVERate study.

Background: Hepatitis C virus (HCV) reinfection following successful treatment threatens the achievement of HCV elimination. The primary aim of this study is to assess reinfection rate three years after sustained virologic response (SVR) in people who inject drugs (PWID) that are on opioid agonist treatment (OAT) who underwent anti-HCV treatment with interferon-free regimens.

Methods: Observational, non-interventional, prospective, descriptive study carried out in Spanish tertiary public hospitals between 2017 and 2022.

Oncological safety of fertility preservation treatment in ovarian cancer: A Spanish multicenter study.

Objective: To assess the safety of fertility-sparing treatments for early-stage ovarian cancer in women younger than 40 years old.

Methods: We performed a retrospective multicenter study including women aged 18-40 years diagnosed with early-stage (FIGO I-II) ovarian cancer in 55 Spanish hospitals, from January 2010 to December 2019. Benign and borderline tumors were excluded, as well as advanced stages (FIGO III-IV).

Factors associated with depressive symptoms among 1,502 couples in the immediate puerperium.

Background: Historically, perinatal depression has predominantly focussed on the mother-baby dyad, often neglecting the crucial role of fathers.

Aim: To determine the prevalence and associated factors of depressive symptoms in the immediate puerperium (PDS) in both mothers and fathers, individually and concurrently.

Method: This study employed a cross-sectional design.

Occurrences of allergenicity to banana pathogenesis-related-10 (PR10) protein variants.

Pathogenesis-related-10 (PR10) proteins play significant roles in plant defence against biotic and abiotic stresses. Recently, two banana PR10 proteins (MaPR10-BeB5 and MaPR10-GNA5) were characterised and shown to exhibit antifungal properties against . In rice, transgenic overexpression of PR10 proteins conferred resistance to pathogen infection and drought tolerance without affecting productivity, highlighting their potential for agricultural applications.

Preclinical validation of human recombinant glutamate-oxaloacetate transaminase for the treatment of acute ischemic stroke.

The blood enzyme glutamate-oxaloacetate transaminase (GOT) has been postulated as an effective therapeutic to protect the brain during stroke. To demonstrate its potential clinical utility, a new human recombinant form of GOT (rGOT) was produced for medical use. We tested the pharmacokinetics and evaluated the protective efficacy of rGOT in rodent and non-human primate models that reflected clinical stroke conditions.

Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.

Background: Advances in haemolytic disease of the fetus and newborn have led to numerous treatment options. We report practice variations in the management and outcomes of haemolytic disease of the fetus and newborn in at-risk pregnancies.

Methods: In this international, retrospective, observational cohort study, data from cases with moderate or severe haemolytic disease of the fetus and newborn were retrieved from 31 centres in 22 countries.

Outcomes of Pediatric Hepatocellular Carcinoma: A Single-Center Experience With Resection Versus Transplantation.

Background: Pediatric hepatocellular carcinoma (HCC) presents significant challenges due to its aggressive nature, with survival depending on complete resection. We aimed to assess outcomes between liver resection (LR) and liver transplantation (LT).

Methods: A total of 25 patients were retrieved, four of whom were classified as palliative at diagnosis.

Concizumab prophylaxis in people with haemophilia A or haemophilia B without inhibitors (explorer8): a prospective, multicentre, open-label, randomised, phase 3a trial.

Background: Concizumab is an anti-tissue factor pathway inhibitor monoclonal antibody in development as a once-daily, subcutaneous prophylaxis for patients with haemophilia A or haemophilia B with or without inhibitors. We aimed to assess the efficacy and safety of concizumab in patients with haemophilia A or B without inhibitors. Here we report the results from the confirmatory analysis cutoff.

Layer Analysis Based on RNA-Seq Reveals Molecular Complexity of Gastric Cancer.

Gastric adenocarcinoma (GA) is a significant global health issue with poor prognosis, despite advancements in treatment. Although molecular classifications, such as The Cancer Genome Atlas (TCGA), provide valuable insights, their clinical utility remains limited. We performed a multi-layered functional analysis using TCGA RNA sequencing data to better define molecular subtypes and explore therapeutic implications.

Cerebral near-infrared spectroscopy guided neonatal intensive care management for the preterm infant.

Infants requiring admission to the neonatal intensive care unit (NICU) are particularly vulnerable to developing brain injury. The severity of the underlying clinical conditions and the complexity of care call for continuous, cot-side, non-invasive monitoring tools. Near-infrared spectroscopy (NIRS) measures the regional tissue oxygen saturation of hemoglobin (rStO) and provides continuous information on the net-result of several factors.