Small variant benchmark from a complete assembly of X and Y chromosomes.

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.

Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.

Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.

Comparative analysis of clinicopathological characteristics in young and elderly patients with oral squamous cell carcinoma: a retrospective study in Northeastern Brazil.

The aim of this study was to perform a clinicopathological analysis of oral squamous cell carcinoma (OSCC) in young patients from the northeast of Brazil and compare with elderly individuals. This retrospective study reviewed 104 OSCC cases from 2000 to 2015, focusing on patients under 40 and over 60 at diagnosis. Forty-two patients under 40 years old (40.

Respiratory Syncytial Virus and Other Respiratory Viruses in Hospitalized Infants During the 2023-2024 Winter Season in Mexico.

Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections in young children. During the COVID-19 pandemic, a significant change in the epidemiology of RSV and other viruses occurred worldwide, leading to a reduction in the circulation of these infectious agents. After the pandemic, the resurgence of seasonal respiratory viruses occurred, but some features of these infections contrast to those registered prior to the pandemic.

Seasonal Shifts in Influenza, Respiratory Syncytial Virus, and Other Respiratory Viruses After the COVID-19 Pandemic: An Eight-Year Retrospective Study in Jalisco, Mexico.

The coronavirus disease 2019 (COVID-19) pandemic profoundly disrupted the epidemiology of respiratory viruses, driven primarily by widespread non-pharmaceutical interventions (NPIs) such as social distancing and masking. This eight-year retrospective study examines the seasonal patterns and incidence of influenza virus, respiratory syncytial virus (RSV), and other respiratory viruses across pre-pandemic, pandemic, and post-pandemic phases in Jalisco, Mexico. Weekly case counts were analyzed using an interrupted time series (ITS) model, segmenting the timeline into these three distinct phases.

Adipokines and Gamma-Glutamyl Transferase as Biomarkers of Metabolic Syndrome Risk in Mexican School-Aged Children.

: The prevalence of metabolic syndrome in children has been increasing, raising concerns about early detection and clinical management. Adipokines, which are secreted by adipose tissue, play a critical role in metabolic regulation and inflammation, while gamma-glutamyl transferase (GGT), as a liver enzyme, is linked to oxidative stress and metabolic disorders. The objective was to examine the association of circulating adipokines and GGT with metabolic syndrome risk in school-aged children from Northeast Mexico.

Nanoparticle Strategies for Treating CNS Disorders: A Comprehensive Review of Drug Delivery and Theranostic Applications.

This review aims to address the significant challenges of treating central nervous system (CNS) disorders such as neurodegenerative diseases, strokes, spinal cord injuries, and brain tumors. These disorders are difficult to manage due to the complexity of disease mechanisms and the protective blood-brain barrier (BBB), which restricts drug delivery. Recent advancements in nanoparticle (NP) technologies offer promising solutions, with potential applications in drug delivery, neuroprotection, and neuroregeneration.

Continuous Risk Assessment of Late and Term Preeclampsia Throughout Pregnancy: A Retrospective Cohort Study.

: To evaluate the diagnostic accuracy of widely available biomarkers longitudinally measured throughout pregnancy to predict all and term (delivery at ≥37 weeks) preeclampsia (PE). : This is a longitudinal retrospective study performed at Hospital Universitario de Torrejón (Madrid, Spain) and Shterev Hospital (Sofia, Bulgaria) between August 2017 and December 2022. All pregnant women with singleton pregnancies and non-malformed live fetuses attending their routine ultrasound examination and first-trimester screening for preterm PE at 11 + 0 to 13 + 6 weeks' gestation at the participating centers were invited to participate in a larger study for the prediction of pregnancy complications.

Carbapenem-Resistant Bacteremia in Pediatric Patients in Latin America and the Caribbean: A Systematic Review and Meta-Analysis.

Data on the health impact of carbapenem-resistant bloodstream infections (CRE-BSIs) in pediatric populations from Latin America and the Caribbean (LAC) are limited. This systematic review aims to examine the demographic, clinical, and microbiological aspects and resource utilization of this infection in children from this region. This systematic review investigates the impact of CRE-BSIs in pediatric populations across LAC.

Use of the MNCD Classification to Monitor Clinical Stage and Response to Levodopa-Entacapone-Carbidopa Intestinal Gel Infusion in Advanced Parkinson's Disease.

Background And Objective: Staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (Motor; Non-motor; Cognition; Dependency) and five stages, correlated with disease severity, patients' quality of life and caregivers' strain and burden. Our aim was to apply the MNCD classification in advanced PD patients treated with device-aided therapy (DAT).

Patients And Methods: A multicenter observational retrospective study of the first patients to start the levodopa-entacapone-carbidopa intestinal gel (LECIG) in Spain was performed (LECIPARK study).

Executive Summary: Clinical Practice Guidelines on the Management of Resistant Tuberculosis of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) and the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC).

The Spanish Society of Pneumology and Thoracic Surgery (SEPAR) and the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) have developed together Clinical Practice Guidelines (GPC) on the management of people affected by tuberculosis (TB) resistant to drugs with activity against Mycobacterium tuberculosis. These clinical practice guidelines include the latest updates of the SEPAR regulations for the diagnosis and treatment of drug-resistant TB from 2017 and 2020 as the starting point. The methodology included asking relevant clinical questions based on PICO methodology, a literature search focusing on each question, and a systematic and comprehensive evaluation of the evidence, with a summary of this evidence for each question.

Inflammatory discoveries two years after acute severe COVID-19: a longitudinal biomarker profile assessment in long COVID individuals in the Brazilian Amazon.

Background: In SARS-CoV-2 infection, cytokines and laboratory biomarkers play a key role in disease progression and their long-term levels have been associated with the outcome of long COVID-19.

Objectives: I) study the levels of cytokines, hematological and biochemical biomarkers in the acute and post-acute phases of COVID-19 disease; and II) assess the impact of COVID-19 vaccine doses on fatigue symptoms.

Methods: This study is an exploratory cohort nested within a clinical and laboratory follow-up of surviving participants after pre-vaccine acute COVID-19 infection with severe clinical manifestations.

Digital Transformation of Rheumatology Care in Germany: Cross-Sectional National Survey.

Background: In recent years, health care has undergone a rapid and unprecedented digital transformation. In many fields of specialty care, such as rheumatology, this shift is driven by the growing number of patients and limited resources, leading to increased use of digital health technologies (DHTs) to maintain high-quality clinical care. Previous studies examined user acceptance of individual DHTs in rheumatology, such as telemedicine, video consultations, and mHealth.

[Benefits of home-based administration of palivizumab in high-risk groups].

Unlabelled: Palivizumab, a humanized monoclonal antibody against the respiratory syncytial virus (RSV), currently is indicated in groups at higher risk of developing severe RSV disease, such as extreme premature infants and patients with hemodynamically significant heart disease. In Chile, this strategy is guaranteed by Law 20850 (Ricarte Soto Law). Nevertheless, barriers to its administration included the need to transfer these labile patients and exposure to other users, with the risk of contagion in waiting rooms.

[Tacrolimus in Difficult to Treat Proteinuria Associated with Lupus Nephritis. Experience of 3 Centers].

Unlabelled: The management of proteinuria in patients with lupus nephritis represents a challenge for the specialist. Recently, Calcineurin Inhibitors have been positioned as an effective alternative in these patients, but their use is not widespread in our country. We report the experience of three centers in this regard.

Update on actinomycetoma treatment: linezolid in the treatment of actinomycetomas due to spp and resistant to conventional treatments.

Introduction: Mycetoma is a chronic granulomatous infection, common throughout tropical regions, and is considered a neglected disease that mostly affects impoverished populations. Mycetoma is divided into eumycetoma, caused by fungi, and actinomycetoma, caused by filamentous bacteria. Clinical presentation is distinctive, and making the diagnosis is usually not difficult; however, access to safe and effective treatments is a major challenge.

Differences in Clinical Profiles and Biologic Treatment Approaches for Autoimmune Rheumatic Diseases Across Regions in Mexico: An Analysis of the BIOBADAMEX Cohort.

Objective: Being Mexico a very diverse developing country, the access to health care varies among geographical regions. We aimed to assess the differences in clinical features and treatment prescription in 3 regions of Mexico using data from the Mexican Adverse Events Registry (BIOBADAMEX).

Methods: We included all BIOBADAMEX patients from 2016 to 2023, compared the prescription patterns, the sociodemographic, clinical, and treatment characteristics between the northern (NR), central (CR), and southern regions (SR), and addressed the treatment survival by calculating hazards ratios (HRs).

Prevalence of difficult-to-treat resistance in ESKAPE pathogens in a third level hospital in Mexico.

Background: Antimicrobial resistance and difficult-to-treat resistance (DTR) in ESKAPE pathogens ( and species) is a threat to human health. The aim of this study was to determine the prevalence of antimicrobial resistance and DTR rates in ESKAPE pathogens over six years in a third-level hospital from Monterrey, Mexico.

Methods: Antimicrobial susceptibility testing was determined by either disk diffusion or broth microdilution in strains from 2018 to 2023.

An Integrated Neuromuscular Training Intervention Applied in Primary School Induces Epigenetic Modifications in Disease-Related Genes: A Genome-Wide DNA Methylation Study.

Physical exercise has been shown to induce epigenetic modifications with various health implications, directly affect DNA methylation (DNAm), as well as reverse the epigenetic age. Hence, we aimed to identify differential methylation changes and assess the epigenetic age in the saliva of 7-9-year-old school children following a 3-month integrated neuromuscular training (INT), as well as to explore if any of the methylation changes are in core genes. Core genes are defined as genes of high relevance and essential importance within the human genome.

Feasibility study of hyperspectral colposcopy as a novel tool for detecting precancerous cervical lesions.

Cervical cancer remains a major global health concern, with a specially alarming incidence in younger women. Traditional detection techniques such as the Pap smear and colposcopy often lack sensitivity and specificity and are highly dependent on the experience of the gynaecologist. In response, this study proposes the use of Hyperspectral Imaging, a pioneering technology that combines traditional imaging with spectroscopy to provide detailed spatial and spectral information.

Profile and Usefulness of Serum Cytokines to Predict Prognosis in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.