Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.

Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.

Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.

A gut instinct for childhood leukemia prevention: microbiome-targeting recommendations aimed at parents and caregivers.

Childhood leukemia accounts for 30% of all pediatric cancer cases with acute lymphoblastic leukemia (ALL) being the most common subtype. Involvement of the gut microbiome in ALL development has recently garnered interest due to an increasing recognition of the key contribution the microbiome plays in maintaining the immune system's homeostatic balance. Commensal gut microbiota provide a first line of defense against different pathogens and gut microbiome immaturity has been implicated in ALL pathogenesis.

Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age.

: Isoniazid (INH) remains a first-line drug for the treatment of tuberculosis (TB) in young children. In 2010, the WHO recommended an increase in the daily dose of INH up to 10 (7-15) mg/kg. Currently, there are no INH suspensions available in Europe.

Prevalence and severity of anxiety, stress, and depression in long COVID among adults in Barcelona.

Background: The COVID-19 pandemic's long-term mental health implications are increasingly concerning, especially among patients suffering post-acute sequelae of SARS-CoV-2 infection: Long COVID (LC) patients.

Aim: This study explores the presence and distribution of anxiety, depression, and stress in LC individuals with cognitive complaints in northern Barcelona (Spain).

Design & Settings: This cross-sectional study involved 155 diagnosed LC individuals from the "Aliança ProHEpiC-19 Cognitiu (APC)" project.

A new Mediterranean Lifestyle Pyramid for children and youth: a critical lifestyle tool for preventing obesity and associated cardiometabolic diseases in a sustainable context.

Cardiovascular risk factors begin in childhood and track into adulthood, increasing the possibility of impaired cardiometabolic health. Adopting healthy dietary patterns can help curb childhood obesity, a worrisome epidemic problem at present. In the era of personalized nutrition, dietary recommendations should be adapted to different stages of life, including children (older than 3 years) and adolescents.

Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

The Implementation of a Feeding Protocol in Patients With Noninvasive Ventilation Improves Enteral Nutrition: The NIVEN Study.

Purpose: There is limited evidence to guide the treatment of enteral nutrition (EN) for children with bronchiolitis who receive biphasic positive airway pressure (BiPAP) support.

Methods: This quality improvement project included patients with bronchiolitis who were supported by BiPAP ventilation. An algorithm to increase EN treatment in those patients was created by stakeholders.

Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol.

The application of personalized medicine in patients with first-episode psychosis (FEP) requires tools for classifying patients according to their response to treatment, considering both treatment efficacy and toxicity. However, several limitations have hindered its translation into clinical practice. Here, we describe the rationale, aims and methodology of (the FarmaPRED-PEP project), which aims to develop and validate predictive algorithms to classify FEP patients according to their response to antipsychotics, thereby allowing the most appropriate treatment strategy to be selected.

Sex dimorphic associations of Prader-Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants.

Background: The impact of Prader-Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences.

Methods: Relative gene expression of paternally expressed MAGEL2, NDN, and SNURF-SNRPN, and the small nucleolar RNAs SNORD116 and SNORD115 were determined by real-time quantitative polymerase chain reaction in umbilical cord tissue from 122 healthy newborns (59 girls and 63 boys).

Longitudinal Assessment of Abnormal Cortical Folding in Fetuses and Neonates With Isolated Non-Severe Ventriculomegaly.

Purpose: The impact of ventriculomegaly (VM) on cortical development and brain functionality has been extensively explored in existing literature. VM has been associated with higher risks of attention-deficit and hyperactivity disorders, as well as cognitive, language, and behavior deficits. Some studies have also shown a relationship between VM and cortical overgrowth, along with reduced cortical folding, both in fetuses and neonates.

Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.

Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray analysis.

Palmitate potentiates the SMAD3-PAI-1 pathway by reducing nuclear GDF15 levels.

Nuclear growth differentiation factor 15 (GDF15) reduces the binding of the mothers' against decapentaplegic homolog (SMAD) complex to its DNA-binding elements. However, the stimuli that control this process are unknown. Here, we examined whether saturated fatty acids (FA), particularly palmitate, regulate nuclear GDF15 levels and the activation of the SMAD3 pathway in human skeletal myotubes and mouse skeletal muscle, where most insulin-stimulated glucose use occurs in the whole organism.

A comprehensive GPS-based analysis of activity spaces in early and late pregnancy using the ActMAP framework.

Health implications of mobility during pregnancy entail a need to understand pregnant women's activity spaces. We present ActMAP, a framework for quantifying multiple aspects of activity spaces from distinct trips and stays derived from GPS data. We applied ActMAP to data from 238 pregnant women in Barcelona, Spain (2018-2020) and explored weekday, weekend and intraday associations between pregnancy trimester and activity spaces.

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to identify the germline causative alteration to provide intensified surveillance to those at risk and allow early diagnosis and cancer prevention.

Role of procalcitonin, C reactive protein and ferritin in cytokine release syndrome after CAR T-cell therapy in children and young adults.

PurposeChimeric antigen receptor (CAR) T-cell CD19 therapy has changed the treatment paradigm for patients with relapsed/refractory B-cell acute lymphoblastic leukemia. It is frequently associated with potentially severe toxicities: cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS), and admission to PICU is often required. Some biomarkers seem to correlate with CRS severity.

Deep cascaded registration and weakly-supervised segmentation of fetal brain MRI.

Deformable image registration is a cornerstone of many medical image analysis applications, particularly in the context of fetal brain magnetic resonance imaging (MRI), where precise registration is essential for studying the rapidly evolving fetal brain during pregnancy and potentially identifying neurodevelopmental abnormalities. While deep learning has become the leading approach for medical image registration, traditional convolutional neural networks (CNNs) often fall short in capturing fine image details due to their bias toward low spatial frequencies. To address this challenge, we introduce a deep learning registration framework comprising multiple cascaded convolutional networks.

Empirical antibiotic therapy improves outcomes in mechanically ventilated patients with COVID-19: An emulated targeted trial within a prospective, multicentre cohort study.

Background: Bacterial pulmonary superinfections develop in a substantial proportion of mechanically ventilated COVID-19 patients and are associated with prolonged mechanical ventilation requirements and increased mortality. Albeit recommended, evidence supporting the use of empirical antibiotics at intubation is weak and of low quality. The aim of this study was to elucidate the effect of empirical antibiotics, administered within 24 h of endotracheal intubation, on superinfections, duration of mechanical ventilation, and mortality in mechanically ventilated patients with COVID-19.

Abnormal redox balance at membrane contact sites causes axonopathy in -related Charcot-Marie-Tooth disease.

Pathogenic variants of cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.

Diverse real-life outcomes after intensive risk-adapted therapy for 1034 AML patients from the CETLAM Group.

Given the heterogeneity of acute myeloid leukemia patients, it is necessary to identify patients considered fit for intensive therapy but who will perform poorly, and in whom alternative approaches deserve investigation. We analyzed 1034 fit adults ≤70 years intensively treated between 2012 and 2022 in the CETLAM group. Young adults ( ≤ 60 years) presented higher remission rates and improved survival than older adults above that age (CR 79% vs.

Acral melanoma in the Caucasian population: a comprehensive cohort study on epidemiological, clinicopathological, and prognostic features.

Background: Acral melanoma is associated with poor prognosis. Studying the characteristics and prognosis of Caucasian patients is crucial to understand the distinct features of this tumor.

Objectives: To analyze the epidemiological, clinicopathological, and prognostic features of acral melanoma in Caucasian patients.

Decreased impulsiveness and MEG normalization after AI-digital therapy in ADHD children: a RCT.

Attention-deficit/hyperactivity disorder (ADHD) presents with symptoms like impulsiveness, inattention, and hyperactivity, often affecting children's academic and social functioning. Non-pharmacological interventions, such as digital cognitive therapy, are emerging as complementary treatments for ADHD. The randomized controlled trial explored the impact of an AI-driven digital cognitive program on impulsiveness, inattentiveness, and neurophysiological markers in 41 children aged 8-12 with ADHD.

Effects of a One-Year Intensified Weight Loss Program on Body Composition Parameters in Patients with Severe Obesity and Obstructive Sleep Apnea (OSA): A Randomized Controlled Trial.

Studies focusing on the effects of lifestyle strategies on patients with obstructive sleep apnea (OSA) that go beyond body weight and explore body composition are currently scarce and inconclusive. The aim of this study was to evaluate the effects of a 12-month intensive life intervention program (ILI), based on a hypocaloric Mediterranean diet, on changes in the body composition parameters as assessed by abdominal computed tomography (CT) and the cardiorespiratory profile of patients with severe OSA and grade I-II obesity, compared to patients receiving standard care. Resultts:Thirty-four patients (30 males and four females) were randomly assigned to an intervention group (IG) ( = 18) or a control group (CG) (n = 16).

Methodological Assessment of ExoGAG for Isolation of Cerebrospinal Fluid Extracellular Vesicles as a Source of Biomarkers.

Extracellular vesicles (EVs) in cerebrospinal fluid (CSF) represent a valuable source of biomarkers for central nervous system (CNS) diseases, offering new pathways for diagnosis and monitoring. However, existing methods for isolating EVs from CSF often prove to be labor-intensive and reliant on specialized equipment, hindering their clinical application. In this study, we present a novel, clinically compatible method for isolating EVs from CSF.

Pregnancy Outcomes in Non-Criteria Obstetric Antiphospholipid Syndrome: Analysis of a Cohort of 91 Patients.

: The clinical and laboratory features of patients with non-criteria obstetric antiphospholipid syndrome (NC-OAPS), as well as their pregnancy outcomes and ideal treatment are not clearly determined. The aim of this study is to describe the characteristics and outcomes of pregnancies in NC-OAPS and compare them with an obstetric APS (OAPS) cohort. : This is a retrospective study conducted on a cohort of women referred to a high-risk obstetric unit of a tertiary hospital.