Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

Introduction And Objectives: In recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African ancestry. The aim of this study was to analyze the impact of ATTRv caused by p.

Disease activity in patients with idiopathic inflammatory myopathy according to time since diagnosis and positivity to antisynthetase autoantibodies: data from the Myo-Spain registry.

Objective: To evaluate the main outcomes of disease activity and their association with other measures of activity, damage, and quality of life in patients with idiopathic inflammatory myopathy (IIM) according to time since diagnosis and positivity to antisynthetase autoantibodies (ASAs).

Methods: Cross-sectional multicenter study within the Spanish Myo-Spain registry. Cases were classified as incident (≤ 12 months since diagnosis) and prevalent.

Portal hypertension: recommendations for diagnosis and treatment. Consensus document sponsored by the Spanish Association for the Study of the Liver (AEEH) and the Biomedical Research Network Centre for Liver and Digestive Diseases (CIBERehd).

Portal hypertension is a hemodynamic abnormality that complicates the course of cirrhosis, as well as other diseases that affect the portal venous circulation. The development of portal hypertension compromises prognosis, especially when it rises above a certain threshold known as clinically significant portal hypertension (CSPH). In the consensus conference on Portal Hypertension promoted by the Spanish Association for the Study of the Liver and the Hepatic and Digestive diseases area of the Biomedical Research Networking Center (CIBERehd), different aspects of the diagnosis and treatment of portal hypertension caused by cirrhosis or other diseases were discussed.

Etiological and clinical characterization of longitudinally extensive spinal cord lesions: A 12-year tertiary center experience.

Introduction: Longitudinally extensive spinal cord lesions (LESCL) are characterized by T2-hyperintense signals spanning at least three vertebral body segments, with neuromyelitis optica spectrum disorders (NMOSD) being a significant cause. This study aimed to characterize the clinical, radiological, serological, and cerebrospinal fluid (CSF) features of LESCL and to compare NMOSD and non-NMOSD cases.

Methods: We conducted a retrospective cross-sectional study of adult patients diagnosed with LESCL at our center over a twelve-year period collecting data on demographics, clinical presentations, MRI findings, CSF analysis, and serological testing for AQP4-IgG and MOG-IgG antibodies.

Interrelationships between polygenic risk scores, cognition, symptoms, and functioning in first-episode psychosis: A network analysis approach.

Psychopathological manifestations and cognitive impairments are core features of psychotic disorders. Polygenic risk scores (PRS) offer insights into the relationships between genetic vulnerability, symptomatology, and cognitive impairments. This study used a network analysis to explore the connections between PRS, cognition, psychopathology, and overall functional outcomes in individuals experiencing a first episode of psychosis (FEP).

Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.

Background: The usefulness of current diagnostic approaches in children with suspected autoimmune encephalitis is unknown. We aimed to assess the diagnosis of autoimmune encephalitis in clinical practice and to compare the performance of two international diagnostic algorithms (one intended for patients of any age [general], the other intended for paediatric patients), with particular emphasis on the evaluation of patients with probable antibody-negative autoimmune encephalitis because this diagnosis suggests that immunotherapy should be continued or escalated but is difficult to establish.

Methods: We did a prospective cohort study that included all patients (<18 years of age) with suspected autoimmune encephalitis recruited at 40 hospitals in Spain whose physicians provided clinical information every 6 months for 2 years or more.

Recommendations for the management of cutaneous squamous cell carcinoma: a systematic multidisciplinary Delphi consensus approach.

Background: There are gaps and unanswered questions in clinical guidelines regarding several aspects of the management of patients with cutaneous squamous cell carcinoma (cSCC).

Methods: A scientific committee of ten cSCC specialists in Spain (dermatology, medical oncology, oral and maxillofacial surgery, plastic surgery, and radiotherapy) used ADAPTE methodology to develop recommendations by: (i) identifying clinical questions not fully answered by clinical practice guidelines; (ii) systematically reviewing the literature (published between November 2017 and July 2023 in PubMed and the Cochrane database) and grading the evidence (using Oxford levels); (iii) developing recommendations and assessing those with no consensus among the scientific committee or with evidence level 3-5 or strength of recommendation under C or D in a two-round Delphi method; and (iv) developing the final recommendations in the form of answers to key clinical questions, grading the strength of recommendation. An external group of 32 experts plus the members of the committee participated in both Delphi rounds, evaluating the appropriateness and need of the recommendations.

NeuroVoz: a Castillian Spanish corpus of parkinsonian speech.

The screening of Parkinson's Disease (PD) through speech is hindered by a notable lack of publicly available datasets in different languages. This fact limits the reproducibility and further exploration of existing research. To address this gap, this manuscript presents the NeuroVoz corpus consisting of 112 native Castilian-Spanish speakers, including 58 healthy controls and 54 individuals with PD, all recorded in ON state.

Biomarkers of oxidation, inflammation and intestinal permeability in persons with diabetes mellitus with parenteral nutrition: A multicenter randomized trial.

Background And Aims: Parenteral nutrition (PN) composition could play a role in the management of systemic inflammatory response and intestinal barrier disruption. We aimed to evaluate changes in biomarkers of inflammation, oxidative status and intestinal permeability in patients with type 2 diabetes mellitus (T2DM) who received different PN lipid formulas.

Methods: This was a prospective study, including 94 patients with T2DM who received omega (n)-3 polyunsaturated fatty acids (PUFA)-enriched PN, a mixture of medium and long chain triglycerides (MCT/LCT) PN, or an olive oil-based PN.

The mechanisms underlying the cardiac effects of modified citrus pectin in obese rats with myocardial ischemia: Role of galectin-3.

Background: Modified citrus pectin (MCP) is used as a nutritional supplement that inhibits galectin-3 activity, a central player in the cardiac damage associated with different pathological situations. In fact, we have previously observed that MCP improved cardiac function in obese infarcted rats that was associated with a reduction in cardiac fibrosis. Therefore, the aim of the present study was to further explore whether this effect could involve the modulation of gene expression of ECM components and their mediators as well as whether it could affect another two mechanisms involved in cardiac damage: mitochondrial dynamics and autophagic flux.

COVID-19 clinical phenotypes in vaccinated and nonvaccinated solid organ transplant recipients: a multicenter validation study.

Clinical phenotypes of COVID-19, associated with mortality risk, have been identified in the general population. The present study assesses their applicability in solid organ transplant recipients (SOTR) hospital-admitted by COVID-19. In a cohort of 488 SOTR, nonvaccinated (n = 394) and vaccinated (n = 94) against SARS-CoV-2, we evaluated 16 demographic, clinical, analytical, and radiological variables to identify the clinical phenotypes A, B, and C.

Ramón y Cajal and the cartilaginous growth plate.

Santiago Ramón y Cajal (1852-1934), a distinguished histologist and Nobel Laureate in Physiology or Medicine in 1906, is considered the father of Neuroscience. However, his legacy also extended to the study of various tissues, including hyaline cartilage, an area in which he was a pioneer. Throughout his work Elements of Normal Histology and Micrographic Technique, Cajal developed fundamental concepts that, when reviewed in light of molecular biology, resonate with current ideas about cellular communication and macromolecular interactions.

Epimuscular myofascial force transmission between nerve and myotendinous unit: A shear-wave elastography study.

Introduction: Epimuscular myofascial force transmission can occur bidirectionally between muscles and nerves through a connecting neurovascular tract. The purpose of this study was to determine whether a neurodynamic stress test produces stiffness changes in the adjacent myotendinous complex. The authors also assessed which anatomical variables had an impact on elasticity changes provoked by the maneuver.

HLA-G high-expressor 3'UTR markers are linked to gastric cancer development and survival.

Gastric cancer ranks fifth in both world prevalence and lethality, with a 5-year survival of less than 30%. HLA-G, a non-classical class I HLA gene, has emerged as a potential marker for cancer susceptibility and prognosis due to its immunomodulatory properties. Its level of expression is regulated by polymorphisms in the 3' untranslated region (3'UTR) polymorphisms, which form various combined haplotypes (UTR-1 to -9).

European Association of Urology Guidelines on Renal Transplantation: Update 2024.

Background And Objective: The European Association of Urology (EAU) Panel on Renal Transplantation released an updated version of the renal transplantation (RT) guidelines. This report aims to present the 2024 EAU guidelines on RT.

Methods: A broad and comprehensive scoping exercise covering all areas of RT guidelines published between May 31, 2020 and April 1, 2023 was performed.

Verbal and Spatial Working Memory Capacity in Blind Adults and the Possible Influence of Age at Blindness Onset: A Systematic Review and Meta-analysis.

The loss of a sense, such as vision, forces individuals to adapt to their environment and its demands in a variety of ways. In the case of blindness, significant neurofunctional and cognitive changes have been documented. However, there is no clear consensus on the differences in performance between adult blind participants and sighted controls in cognitive processes such as working memory (WM).

American presidential campaign and ageism.

Ageism is still acceptable in our society, as age-focused criticism during the last American presidential campaign shows. Media and social media discourse on ageism, sexism, and racism shows the need of raising the awareness of ageism. We present Eugene Braunwald as an example of excellence at an advanced age.

Cilastatin, a new therapeutic promise for acute kidney injury.

Acute kidney injury is a devasting clinical syndrome resulting from multiple causes, characterized by an abrupt deterioration of kidney function for which there is no pharmacologic treatment. Cilastatin has demonstrated direct nephroprotective effects in acute kidney injury and now is shown to be effective to specifically target therapeutically loaded nanoparticles to the proximal tubule to treat acute kidney injury.