Absence of MCJ/DnaJC15 promotes brown adipose tissue thermogenesis.

Obesity poses a global health challenge, demanding a deeper understanding of adipose tissue (AT) and its mitochondria. This study describes the role of the mitochondrial protein Methylation-controlled J protein (MCJ/DnaJC15) in orchestrating brown adipose tissue (BAT) thermogenesis. Here we show how MCJ expression decreases during obesity, as evident in human and mouse adipose tissue samples.

Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations.

Aripiprazole (ARI) is an atypical antipsychotic which is a substrate of P-glycoprotein (P-gp), a transmembrane glycoprotein that plays a crucial role in eliminating potentially harmful compounds from the organism. ARI once-monthly (AOM) is a long-acting injectable form which improves treatment compliance. Genetic polymorphisms in ABCB1 may lead to changes in P-gp function, leading to individual differences in drug disposition.

Sperm recovery from urine in men with retrograde ejaculation.

Introduction: Retrograde ejaculation (RE) consists of the reflux backwards, towards the bladder, of the ejaculate, during the emission phase of ejaculation, causing a total or partial absence of sperm emission, with the consequent diversion of semen into the bladder during the emission phase of ejaculation. Evaluating the ejaculate may not be sufficient for identifying RE in some patients. Hence, the management of infertility may involve the use of invasive methods such as epididymal fluid retrieval or testicular biopsy.

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.

Artificial Intelligence and Machine Learning Applications to Pharmacokinetic Modeling and Dose Prediction of Antibiotics: A Scoping Review.

The use of artificial intelligence (AI) and, in particular, machine learning (ML) techniques is growing rapidly in the healthcare field. Their application in pharmacokinetics is of potential interest due to the need to relate enormous amounts of data and to the more efficient development of new predictive dose models. The development of pharmacokinetic models based on these techniques simplifies the process, reduces time, and allows more factors to be considered than with classical methods, and is therefore of special interest in the pharmacokinetic monitoring of antibiotics.

Training Children for Prehospital Aquatic Interventions: Assessing Throwing Skills Using Traditional and Alternative Materials in a Simulated Water Rescue.

Background: Drowning remains a significant cause of mortality among children world-wide, making prevention strategies crucial. The World Health Organization (WHO) recommends training children in safe rescue techniques, including the use of basic skills such as throwing floating objects. This study aims to address a knowledge gap regarding the throwing capabilities of children aged six to twelve using conventional and alternative water rescue materials.

Nutritional Management of Patients with Inborn Errors of Metabolism.

Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...

Impact of Acute Lymphoblastic Leukaemia Treatment on the Nutritional Status of Paediatric Patients: A Systematic Review.

Introduction: Acute lymphoblastic leukaemia (ALL) is the most prevalent cancer in childhood and is one of the leading causes of death annually. Antineoplastic treatments are associated with a high risk of malnutrition, which is important for continuous growth and development.

Objective: This systematic review aimed to evaluate the effect of these treatments on the nutritional status of paediatric patients with ALL.

Head-to-Head Comparison of UHPLC-MS/MS and Alinity C for Plasma Analysis of Risperidone and Paliperidone.

Risperidone, a second-generation antipsychotic widely used in the treatment of schizophrenia, requires therapeutic drug monitoring due to its high interindividual variability. UHPLC-MS/MS is considered the gold standard for pharmacokinetic studies owing to its superior sensitivity and specificity, although it involves time-consuming manual sample preparation. In contrast, the Alinity C system, fully automated, simplifies sample processing, but only measures the active moiety (risperidone plus paliperidone).

Divergent hypoglycemic and hyperglycemic responses to the components of evening meals. A general adult population study in individuals without diabetes (AEGIS study).

Background And Aim: Few real-life studies have analyzed the glycemic response to nutrients in individuals without diabetes. We investigated the glycemic response to evening meals in relation to individual characteristics, nutrient components, and preprandial and postprandial routines.

Methods: A cross-sectional study of 489 individuals without diabetes from a randomly selected general adult population (310 women, median age 46 years, range 18-84 years) was conducted using a continuous glucose monitoring device for 7 days.

Potential Prognostic Protein Biomarkers in Tears From Noninfectious Uveitis Patients Under Biologic Treatment as a Prelude to Personalized Medicine.

Purpose: Adalimumab (ADA) is a systemic biological treatment option approved for the treatment of noninfectious uveitis (NIU); however, up to 40% of patients do not respond to the drug, either in a primary or secondary manner. Here, we evaluated the proteomic profile of patients with NIU who fail to ADA to identify proteins implicated in intraocular inflammation, as well as potential biomarkers for treatment response and novel therapeutic targets.

Methods: Cross-sectional observational study of patients with NIU under ADA treatment for six or more months.

New preclinical biomarkers for prion diseases in the cerebrospinal fluid proteome revealed by mass spectrometry.

Current diagnostic methods for prion diseases only work in late stages of the disease when neurodegeneration is irreversible. Therefore, biomarkers that can detect the disease before the onset of clinical symptoms are necessary. High-throughput discovery proteomics is of great interest in the search for such molecules.

Circadian pattern of blood pressure in patients with stable COPD.

Objective: To describe the circadian blood pressure (BP) pattern in stable COPD patients.

Methods: We included stable COPD patients from Internal Medicine Departments. Office BP and ambulatory BP monitoring were performed.

Safety and efficacy of personalised versus standard dosing of linezolid in patients with sepsis (SePkLin): a pragmatic, multicentre, randomised, controlled and superiority clinical trial protocol.

Introduction: Linezolid is a broadly used antibiotic to treat complicated infections caused by gram-positive bacteria. Therapeutic drug monitoring of linezolid concentrations is recommended to maximise its efficacy and safety, mainly haematological toxicity. Different pharmacokinetic/pharmacodynamic targets have been proposed to improve linezolid exposure: the ratio of the area under the concentration-time curve during a 24-hour period to minimum inhibitory concentration (MIC) between 80 and 120; percentage of time that the drug concentration remains above the MIC during a dosing interval greater than 85% and the trough concentration between 2 and 7 mg/L.

Echocardiographic Phenotype in Severe Aortic Stenosis With and Without Transthyretin Cardiac Amyloidosis: The AMY-TAVI Study.

Aim: The relative apical sparing pattern of left ventricular (LV) longitudinal strain (RELAPS]>1) has been described as a typical sign of cardiac amyloidosis (CA). The objective was to validate this pattern in concomitant CA and aortic stenosis (AS) and to identify new echocardiographic variables suggestive of CA in the presence of AS.

Methods And Results: 324 consecutive patients (age 81.

Quantitative brain [F]FDG PET beyond normal blood glucose levels.

Introduction SUV measurements from static brain [F]FDG PET acquisitions are a commonly used tool in preclinical research, providing a simple alternative for kinetic modelling, which requires complex and time-consuming dynamic acquisitions. However, SUV can be severely affected by the animal handling and preconditioning protocols, primarily by those that may induce changes in blood glucose levels (BGL). Here, we aimed at developing and investigating the feasibility of SUV-based approaches for a wide range of BGL far beyond normal values, and consequently, to develop and validate a new model to generate standardized and reproducible SUV measurements for any BGL.

The CNIC polypill (Acetylsalicylic acid + Atorvastatin + Rampril) in secondary prevention of cardiovascular disease in patients with type 2 diabetes: A comparative analysis with alternative therapeutic approaches.

Background: Patients with type 2 DM (T2DM) and established cardiovascular disease (CVD) are at high risk of recurrent CV events. We analysed the use of the CNIC-polypill (acetylsalicylic acid, ramipril, and atorvastatin) compared with other therapeutic strategies in patients with T2DM and CVD from the retrospective NEPTUNO study.

Methods: Patients were stratified into four therapeutic approaches: CNIC-polypill, its monocomponents as loose medications, equipotent medications, and other therapies.

Role of cfDNA and ctDNA to improve the risk stratification and the disease follow-up in patients with endometrial cancer: towards the clinical application.

Background: There has been a rise in endometrial cancer (EC) incidence leading to increased mortality. To counter this trend, improving the stratification of post-surgery recurrence risk and anticipating disease relapse and treatment resistance is essential. Liquid biopsy analyses offer a promising tool for these clinical challenges, though the best strategy for applying them in EC must be defined.

Long-chain polyunsaturated fatty acids supplementation and sepsis: a systematic review and meta-analysis.

Background: Long chain polyunsaturated fatty acids (LCPUFAs) have proven to be essential for development in preterm infants and have been studied for their capacity to reduce inflammation and infection rates, including sepsis in enteral and parenteral nutrition. The aim of this review and meta-analysis is to gather the information available on this subject to determine if n-3 polyunsaturated fatty acids can reduce sepsis incidence in preterm infants.

Methods: This systematic review was conducted by searching in the databases MEDLINE (via PubMed), ISI-Web of Science, EMBASE, SCOPUS, SciELO, and Cochrane Library databases.