Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.

Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.

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.

Is the Coronal Plane Alignment of the Knee (CPAK) Classification Useful to Plan Individualized Total Knee Arthroplasty Surgery for the Spanish Population? A Critical Analysis of the CPAK Classification.

Introduction: The CPAK classification aims to categorize knee phenotypes. The original study was based on Australian and Belgian population, but significant variation in CPAK distribution exists between different geographic areas. The primary objective is to evaluate knee phenotypes of osteoarthritic Spanish population based on the CPAK system.

Spanish Validation of the Problem Area in Diabetes-Pediatric Version Survey and Its Weak Association with Metabolic Control Parameters in Pediatric Diabetes: A Cross-Sectional Multicenter Study.

: Type 1 diabetes mellitus (T1DM) in pediatric patients often leads to emotional distress, impacting self-management. The PAID-Peds survey measures diabetes-related emotional burden but lacks a validated Spanish version. This study aimed to validate the Spanish PAID-Peds survey in children and adolescents with T1DM and correlate it with diabetic metabolic control parameters.

The Prevalence of Metabolic Syndrome and Hypertriglyceridemic Waist Based on Sociodemographic Variables and Healthy Habits in Healthcare Workers: A Retrospective Study.

: Metabolic syndrome (MetS) and hypertriglyceridemic waist (HTW) are two multifactorial pathological conditions that have been increasing in prevalence worldwide. The objective of this study was to evaluate how various sociodemographic variables and healthy habits are associated with the presence or absence of MetS and HTW. : This study employed a mixed-methods approach, consisting of a retrospective longitudinal study and a cross-sectional descriptive study, analyzing 44,939 healthcare workers with MS and HTW across four professional categories to evaluate the relationship between age, sex, smoking, physical activity, and adherence to the Mediterranean diet using three diagnostic criteria.

The 2024 Assisi think tank on breast cancer: Focus on the use of a tumour bed boost after breast conserving therapy.

At the Fifth Assisi Think Tank Meeting (ATTM) on breast cancer, one key topic was the role of tumor bed boost in invasive breast cancer and ductal carcinoma in situ. The need for a tumor bed boost after whole breast irradiation is controversial. A literature review assessed boost indications, target volume definition, techniques, dose fractionation, and ongoing trials.

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.

Early discharge programme after transcatheter aortic valve implantation based on close follow-up supported by telemonitoring using artificial intelligence: the TeleTAVI study.

Aims: Evidence regarding the safety of early discharge following transcatheter aortic valve implantation (TAVI) is limited. The aim of this study was to evaluate the safety of very early (<24) and early discharge (24-48 h) as compared to standard discharge (>48 h), supported by the implementation of a voice-based virtual assistant using artificial intelligence (AI) and natural language processing.

Methods And Results: Single-arm prospective observational study that included consecutive patients who underwent TAVI in a tertiary hospital in 2023 and were discharged under an AI follow-up programme.

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.

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.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

Lower perturbational complexity index after transcranial magnetic stimulation in schizophrenia patients.

Background: Informational integration and differentiation of the cortex can be tested by methods such as the perturbational complexity index (PCI) combined with TMS-induced activity perturbation. The PCI is obtained by stimulating the cortex with TMS and measuring the resulting spatiotemporal cortical responses with high-density EEG.

Methods: We have compared PCI between 26 patients with schizophrenia (15 males), 15 of them First Episode (FE) (7 males), and 22 healthy controls (12 males).

Digital dietary interventions for healthy adolescents: A systematic review of behavior change techniques, engagement strategies, and adherence.

Background: Adolescence is a crucial phase for developing healthy eating habits with lifelong health implications. Digital interventions, such as smartphone apps and web platforms, have emerged as promising strategies to promote healthy eating habits among adolescents by using behavior change techniques (BCTs). This study aims to systematically review internet-based dietary interventions targeting adolescents, focusing on the analysis of BCTs employed, their delivery modes, and their impact on adolescents' adherence and engagement.

Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is not conserved in humans.

Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions of germline-derived DNA methylation that are maintained as differentially methylated regions (gDMRs) in somatic tissues. This form of epigenetic regulation is highly conserved in mammals and is thought to have co-evolved with placentation. Tissue-specific gDMRs have been identified in human placenta, suggesting that species-specific imprinting dependent on unorthodox epigenetic establishment or maintenance may be more widespread than previously anticipated.

Cardiovascular profile of systemic lupus erythematosus patients hospitalized for COVID-19 in Spain: Analysis of the SEMI-COVID-19 Registry.

Background: Despite advancements in understanding the interplay between systemic lupus erythematosus (SLE), cardiovascular disease and COVID-19, challenges and knowledge gaps persist. This study aimed to characterize the cardiovascular profiles of SLE patients hospitalized with COVID-19 and to evaluate the influence of SLE on the development of cardiovascular complications.

Methods: This was a multicentre, nationwide observational study in which data were sourced from the SEMI-COVID-19 Registry between March 1, 2020, and March 31, 2021, involving 150 Spanish hospitals.

Mortality in patients with Sjögren Disease: A Prospective Cohort Study Identifying Key Predictors.

Objective: To quantify the mortality risk in a large, well-characterized cohort of Sjögren's disease (SjD) patients and to identify independent predictors of mortality in this population.

Methods: We included 314 patients diagnosed with SjD according to the 2002 American-European Consensus Group criteria from a prospective, multicenter SjögrenSER-PROS cohort. Detailed data on systemic manifestations, serological markers, disease activity, and mortality was collected after 9 years of follow up.

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.

Perspectives of clinicians and screening candidates on shared decision-making in prostate cancer screening with the prostate-specific antigen (PSA) test: a qualitative study (PROSHADE study).

Objective: The objective of this study is to analyse the perspectives of screening candidates and healthcare professionals on shared decision-making (SDM) in prostate cancer (PCa) screening using the prostate-specific antigen (PSA) test.

Design: Descriptive qualitative study (May-December 2022): six face-to-face focus groups and four semistructured interviews were conducted, transcribed verbatim and thematically analysed using ATLAS.ti software.

Approach to anaemia in gastrointestinal disease: A position paper by the ESPGHAN Gastroenterology Committee.

Anaemia is a frequent consequence of many gastrointestinal (GI) diseases in children and it can even be the initial presenting symptom of underlying chronic GI disease. The definition of anaemia is age and gender-dependent and it can be classified based on pathophysiology, red cell morphology, and clinical presentation. Although nutritional deficiencies, including GI malabsorption of nutrients and GI bleeding, play a major role, other pathophysiologic mechanisms seen in chronic GI diseases, whether inflammatory (e.

Triglyceride-independent associations between circulating levels of apolipoprotein C-III and biomarkers of inflammation.

Backgrounds And Aims: Preclinical studies suggest that a triglyceride (TG)-independent proinflammatory action of apolipoprotein C-III (apoCIII) exists. We aimed to investigate the relationship between circulating apoCIII levels and subclinical inflammation markers across different cohorts with distinctive inflammatory patterns: patients with metabolic disorders (MDs), patients with rheumatoid arthritis (RA), and controls. Specifically, we assessed the associations of apoCIII with acute inflammation biomarkers (e.

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.

Clinical and ultrasound assessment of body composition in preterm infants at discharge: an observational study.

Objectives: While the target of growth of very preterm infants (VPIs) during Neonatal Intensive care unit (NICU) admission is still controversial, the most accepted objective is that they should follow their intrauterine trajectory in terms of growth and body composition (BC). BC is difficult to measure in clinical daily routine but proxies like body ratios and skinfolds have been used. Prenatal and postnatal factors can influence the growth and BC of VPIs in the NICU.

Dystonia caused by ANO3 variants is due to attenuated Ca influx by ORAI1.

Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.

Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.

Key elements for designing effective second victim support interventions: a focus group study in European clinical settings.

Background: The second victim (SV) experience limits the performance of health and care workers and places patients at risk. Peer support is recognised as the most effective, feasible and acceptable intervention to mitigate its impact.

Objective: To define a set of success factors when designing interventions to support SVs in health and care facilities based on expertise in different European countries.