SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN∆7 Mouse Model of Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system (CNS) but also directly affect other peripheral tissues and organs, including skeletal muscle.

Hepatitis B Virus-Related Cirrhosis and Hepatocellular Carcinoma Hospital Discharge Rates from 2005 to 2021 in Spain: Impact of Universal Vaccination.

The main consequences of chronic hepatitis B virus (HBV) infections are cirrhosis and hepatocellular carcinoma (HCC), both associated with frequent hospitalization. The aim of this study was to analyze the impact of universal HBV vaccination in Spain on chronic HBV-related hospital discharges from 2005 to 2021. Using data from the Minimum Basic Data Set of the Spanish National Health System, we calculated the hospital discharge rate ratio (HDRR) and 95% confidence interval (CI) values for chronic HBV-related discharges between 2005 and 2021.

Connecting genomic and proteomic signatures of amyloid burden in the brain.

Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).

A genome-wide association meta-analysis of all-cause and vascular dementia.

Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.

[Impact of obesity and diabetes on health and cardiovascular disease].

Obesity and type 2 diabetes mellitus (T2D) significantly increase the risk of cardiovascular diseases such as coronary artery disease, atrial fibrillation, heart failure, and sudden cardiac death. This risk is proportional to body mass index (BMI), is exacerbated by comorbidities such as hypertension and dyslipidemia, and includes emerging risk factors like insulin resistance, low-grade chronic inflammation, and thrombosis tendency. The distribution of adipose tissue, especially visceral fat and ectopic deposition in the heart, is another key factor in the development of cardiovascular diseases in these patients, along with atrial and ventricular remodeling.

Metabolic Dysfunction-Associated Steatotic Liver Disease in Severe Obesity and Concordance between Invasive (Biopsy) and Noninvasive (OWLiver®) Diagnoses.

Introduction: Nonalcoholic fatty liver disease (NAFLD), now termed metabolic dysfunction-associated steatotic liver disease (MASLD), is an escalating health concern linked to obesity and type 2 diabetes. Despite liver biopsy being the gold standard, its invasiveness underscores the need for noninvasive diagnostic methods.

Methods: A cross-sectional study was performed to assess MASLD using the noninvasive OWLiver® serum lipidomics test in a cohort of 117 patients with severe obesity undergoing bariatric surgery, comparing outcomes with liver biopsy.

Usefulness of a virtual reality educational program for reducing preoperative anxiety in children: A randomised, single-centre clinical trial.

Background: Preoperative anxiety (PA) is common in children and has detrimental effects on surgical outcome. Strategies based on virtual reality (VR) have recently been introduced to address this problem.

Objective: This study evaluated the usefulness of a virtual reality educational program (VREP) for reducing preoperative anxiety in elective low-complexity paediatric surgery.

Influence of nonalcoholic fatty liver disease severity on carotid adventitial vasa vasorum.

Introduction: Nonalcoholic fatty liver disease (NAFLD) affects a quarter of the world's population and encompasses a spectrum of liver conditions, from non-alcoholic steatohepatitis (NASH) to inflammation and fibrosis. In addition, NAFLD also links to extrahepatic conditions like diabetes or obesity. However, it remains unclear if NAFLD independently correlates with the onset and progression of atherosclerosis.

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients.

Background: Calcitriol, the active form of vitamin D (also known as 1,25-dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA).

Objectives: Based on these results, we aimed measuring the effects of a calcitriol dose of 0.25 mcg/24h in the neurological function and frataxin levels when administered to FRDA patients for a year.

Lipidome characterisation and sex-specific differences in type 1 and type 2 diabetes mellitus.

Background: In this study, we evaluated the lipidome alterations caused by type 1 diabetes (T1D) and type 2 diabetes (T2D), by determining lipids significantly associated with diabetes overall and in both sexes, and lipids associated with the glycaemic state.

Methods: An untargeted lipidomic analysis was performed to measure the lipid profiles of 360 subjects (91 T1D, 91 T2D, 74 with prediabetes and 104 controls (CT)) without cardiovascular and/or chronic kidney disease. Ultra-high performance liquid chromatography-electrospray ionization mass spectrometry (UHPLC-ESI-MS) was conducted in two ion modes (positive and negative).

Inflammatory blood cells and ratios at remission for psychosis relapse prediction: A three-year follow-up of a cohort of first episodes of schizophrenia.

Background: The clinical course following a first episode of schizophrenia (FES) is often characterized by recurrent relapses, resulting in unfavorable clinical and functional outcomes. Inflammatory dysregulation has been implicated in relapse risk; however, the predictive value of inflammatory blood cells in clinically remitted patients after a FES has not been previously explored.

Methods: In this study, we closely monitored 111 patients in remission after a FES until relapse or a three-year follow-up endpoint.

Absence of short-term changes in knowledge and attitudes among household contacts of COVID-19 cases during the post-acute phase of the pandemic in Catalonia and Navarre, Spain.

Objectives: To evaluate short-term changes in knowledge and attitude towards COVID-19 and preventive measures during the post-acute phase of the pandemic in Spain.

Methods: A survey was performed in Catalonia and Navarre between May-2022 and July-2023 in household contacts of COVID-19 cases. Knowledge and attitude were assessed at baseline and at three months, using a Likert scale.

Effectiveness of Influenza Vaccination and Early Antiviral Treatment in Reducing Pneumonia Risk in Severe Influenza Cases.

Introduction: Influenza vaccination may be effective in preventing influenza infection and may reduce the risk of influenza-associated pneumonia. The study aim was to evaluate the effect of influenza vaccination in preventing pneumonia when it failed to prevent influenza hospitalization.

Methods: This was a case-control study comparing hospitalized cases of influenza with and without pneumonia in patients aged ≥18 years in 16 hospitals in Catalonia over 10 influenza seasons (2010-11 to 2019-20).

[Digital literacy as a key element in the digital transformation of health organizations].

In the last years, the digital transformation, has become a reality influencing organizational processes and advancing services for users. This transformation must align with WHO guidelines, addressing the needs of individuals globally and acknowledging Social Determinants of Health and emerging Digital Determinants of Health and the digital divide thas has been created. To accomplish this, the appropriate legislation and infrastructures are required.

Modeling the effects of strigolactone levels on maize root system architecture.

Maize is the most in-demand staple crop globally. Its production relies strongly on the use of fertilizers for the supply of nitrogen, phosphorus, and potassium, which the plant absorbs through its roots, together with water. The architecture of maize roots is determinant in modulating how the plant interacts with the microbiome and extracts nutrients and water from the soil.

Lithium management of periodic mood fluctuations in behavioural frontotemporal dementia: a case report.

The behavioural variant of Frontotemporal Dementia (bvFTD) is a neurodegenerative condition characterized by behavioural and cognitive symptoms. Mood disturbances, including manic-like episodes, can occur in bvFTD, posing diagnostic and therapeutic challenges. This case report presents a 62-year-old male with bvFTD exhibiting weekly mood fluctuations alternating between manic and depressive-like states.

Risk of tuberculosis among pulmonary tuberculosis contacts: the importance of time of exposure to index cases.

Introduction: The intensity of exposure to index cases of tuberculosis [TB] may increase the risk of TB in their contacts. The aim was to determine TB risk factors among contacts of TB index cases.

Methods: A cohort study was carried out in the contacts of pulmonary TB cases registered by the epidemiological surveillance network from 01/01/2019 to 06/30/2021.

Factors Associated with Treatment Prescription to Pulmonary Tuberculosis Contacts in Catalonia (2019-2021): A Population-Based Epidemiological Study.

In countries with low tuberculosis (TB) incidence, the systematic testing and treatment of latent TB infection (LTBI) in contacts of pulmonary TB index cases is the standard of care. The objective of this study, conducted in Catalonia over 2019-2021, was to assess the factors associated with LTBI treatment prescription to close contacts of pulmonary TB index cases. In this population-based epidemiological study of LTBI prevalence among pulmonary TB contacts between 2019 and 2021, multiple logistic backward stepwise regression was used to identify the factors associated with treatment prescription, for which the adjusted odds ratio (aOR) and 95% confidence intervals (CI) were calculated.

Mutual modulation of gut microbiota and the immune system in type 1 diabetes models.

The transgenic 116C-NOD mouse strain exhibits a prevalent Th17 phenotype, and reduced type 1 diabetes (T1D) compared to non-obese diabetic (NOD) mice. A cohousing experiment between both models revealed lower T1D incidence in NOD mice cohoused with 116C-NOD, associated with gut microbiota changes, reduced intestinal permeability, shifts in T and B cell subsets, and a transition from Th1 to Th17 responses. Distinct gut bacterial signatures were linked to T1D in each group.