Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.

Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype-genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study.

Protective Effect of High Adherence to Mediterranean Diet on the Risk of Incident Type-2 Diabetes in Subjects with MAFLD: The Di@bet.es Study.

: Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD) increases the risk of Type-2 Diabetes (T2DM). The Mediterranean diet (MD) has shown advantages in the management of MAFLD and preventing co-morbidities; however, its relationship with T2DM development in MAFLD has been less investigated. We aimed to evaluate the association of MD adherence with the risk of incident T2DM in the Spanish adult population with MAFLD and according to their weight gain at 7.

Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants.

CombiVacS study has demonstrated a strong immune response of the heterologous ChAdOx1-S/BNT162b2 vaccine combination. The primary outcomes of the study were to assess the humoral immune response against SARS-CoV-2, 28 days after a third dose of a mRNA vaccine, in subjects that received a previous prime-boost scheme with ChAdOx1-S/BNT162b2. Secondary outcomes extended the study to 3 and 6 months.

Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age.

Introduction: The detection of pancreatic autoantibodies in first-degree relatives of patients with type 1 diabetes (T1D) is considered a risk factor for disease. Novel available immunotherapies to delay T1D progression highlight the importance of identifying individuals at risk who might benefit from emerging treatments. The objective was to assess the autoimmunity in first-degree relatives of patients with T1D, estimate the time from autoimmunity detection to the onset of clinical diabetes, and identify the associated risk factors.

No Evidence for Cross-Sectional or Longitudinal Associations between Cognitive Flexibility Performances and Nutritional Status in a Cohort of Inpatients with Anorexia Nervosa.

Background: According to the Cognitive-Interpersonal model of anorexia nervosa (AN), the combined influence of cognitive and socio-emotional difficulties would constitute vulnerability and maintaining factors. Poor cognitive flexibility is one of the endophenotypic candidates (i.e.

An Applied Model of Interprofessional Collaboration-Assessment (AMIC-A): A Process-Based Approach to Augmentative and Alternative Communication.

Speech-language pathologists and board-certified behavior analysts both provide important support services to children who are candidates for augmentative and alternative communication. Current assessment practices neglect critical socioecological factors that are necessary to inform communication-based interventions. By leveraging the unique knowledge, research, and expertise of both disciplines, an interprofessional approach to assessment may help realize individualized or precision interventions and personalized supports that address the unique communication needs of each person.

Corrigendum: Candidate biomarkers for the prediction and monitoring of partial remission in pediatric type 1 diabetes.

[This corrects the article DOI: 10.3389/fimmu.2022.

Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study.

Introduction: Growth hormone (GH)-secreting pituitary tumors (GHomas) are the most common acromegaly cause. At diagnosis, most of them are macroadenomas, and up to 56% display cavernous sinus invasion. Biomarker assessment associated with tumor growth and invasion is important to optimize their management.

Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.

Context: Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are common among differences of sex development (DSD) and associate with a wide range of phenotypes, but their pathogenic mechanisms remain unclear.

Objective: Novel, likely disease-causing NR5A1/SF-1 variants from the SF1next cohort of individuals with DSD were characterized to elucidate their pathogenic effect.

Ketogenic diet therapies as a non-pharmacological adjuvant in resistant epilepsy: retrospective analysis of adult outpatients in Colombia.

Twelve patients between 18 and 53 years of age were included. MAD plus nutritional supplementation was administered to 75% ( = 10) of the participants, one (8.3%) received MAD alone, and 16.

Excess degassing drives long-term volcanic unrest at Nevado del Ruiz.

This study combines volcanic gas compositions, SO flux and satellite thermal data collected at Nevado del Ruiz between 2018 and 2021. We find the Nevado del Ruiz plume to have exhibited relatively steady, high CO compositions (avg. CO/S ratios of 5.

Cross-sectional association between severe periodontitis and diabetes mellitus: A nation-wide cohort study.

Aim: To evaluate the cross-sectional association between severe periodontitis and diabetes mellitus (DM), in a representative sample of Spanish population.

Materials And Methods: The di@bet.es epidemiological study is a population-based cohort study aimed to determine the prevalence and incidence of DM in the adult population of Spain.

Altered Red Blood Cell Fatty Acid and Serum Adipokine Profiles in Subjects with Obesity.

Background: Adipokines, as well as the fatty acid profile of red blood cell (RBC) membranes, are known to play important roles in the development and progression of metabolic complications induced by obesity. Thus, the objective of this study is to compare the serum adipokine profile and the RBC membrane fatty acid profile of normal-weight and obese adults, and to analyze their relationship with serum biochemical parameters.

Methods: An observational case-control study was performed in 75 normal-weight and obese adult subjects.

Association between exposure to air pollution and blood lipids in the general population of Spain.

Background And Aims: We aimed to assess the associations of exposure to air pollutants and standard and advanced lipoprotein measures, in a nationwide sample representative of the adult population of Spain.

Methods: We included 4647 adults (>18 years), participants in the national, cross-sectional, population-based di@bet.es study, conducted in 2008-2010.

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe the different molecular findings in patients with a clinical diagnosis of classic BS.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c.437G>C/p.

Effect of agility ladder training with a cognitive task (dual task) on physical and cognitive functions: a randomized study.

Introduction: Agility training (AT) is used to improve neuromuscular performance and dynamic balance, which are crucial for the physical function of older adults. Activities of daily living, which decrease with age, involve tasks that simultaneously require motor, and cognitive abilities and can be considered dual tasks.

Methods: This study investigates a training program's physical and cognitive effects using an agility ladder on healthy older adults.

Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype.

Context: Autoimmune diabetes can develop at any age, but unlike early-onset diabetes, adult onset is less well documented. We aimed to compare, over a wide age range, the most reliable predictive biomarkers for this pathology: pancreatic-autoantibodies and HLA-DRB1 genotype.

Methods: A retrospective study of 802 patients with diabetes (aged 11 months to 66 years) was conducted.

Artificial intelligence for clinical decision support for monitoring patients in cardiovascular ICUs: A systematic review.

Background: Artificial intelligence (AI) and machine learning (ML) models continue to evolve the clinical decision support systems (CDSS). However, challenges arise when it comes to the integration of AI/ML into clinical scenarios. In this systematic review, we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), the population, intervention, comparator, outcome, and study design (PICOS), and the medical AI life cycle guidelines to investigate studies and tools which address AI/ML-based approaches towards clinical decision support (CDS) for monitoring cardiovascular patients in intensive care units (ICUs).