Candidate Genes Related to Spiritual Mediumship: A Whole Exome Sequencing Analysis of Highly Gifted Mediums.

Objective: There has been a call for neuroscientific studies of spiritual experiences due to their global prevalence, significant impact, and importance for understanding the mind-brain problem. Mediumship is a spiritual experience where individuals claim to communicate with or be influenced by deceased persons or non-material entities. We assessed whether mediums possess specific genetic alterations.

Home mechanical ventilation: a narrative review and a proposal of practical approach.

Growing evidence of the benefits of home ventilatory support in patients with chronic respiratory failure along with technological advances in ventilators have enabled their use in overly complex situations, shaping a new scenario for physicians. This has further given rise to new challenges related to their incorporation into current medical practice. However, this evolution needs to be coupled with knowledge and skills of physicians who are willing to prescribe Home Mechanical Ventilation (HMV), in order to prevent them from making inappropriate choices or adjustments that may ultimately have ethical and legal implications.

Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.

Hematopoietic stem cell transplantation (HSCT) is an established treatment for selected patients with inborn errors of metabolism. In this first report from the PDWP-SBTMO, we included 105 patients transplanted between 1988 and 2021 across six Brazilian HSCT centers. The most prevalent diseases were X-linked adrenoleukodystrophy (n = 61) and mucopolysaccharidosis (type I n = 20; type II n = 10), with a median age at HSCT of 8.

Mastering rectal cancer MRI: From foundational concepts to optimal staging.

MRI plays a critical role in the local staging, restaging, surveillance, and risk stratification of patients, ensuring they receive the most tailored therapy. As such, radiologists must be familiar not only with the key MRI findings that influence management decisions but also with the appropriate MRI protocols and structured reporting. Given the complexity of selecting the optimal therapy for each patient-which often requires multidisciplinary discussions-radiologists should be well-versed in relevant treatment strategies and surgical terms, understanding their significance in guiding patient care.

Evaluation of the evidence-based practices for the management of PCOS in the Latin America context: the consensus of the Latin American Association of Gynecological Endocrinology (ALEG).

Objectives: Polycystic Ovary Syndrome (PCOS) is a complex condition affecting approximately 1 in 10 women of reproductive age. However, limited data are available regarding the specific characteristics and needs of women with PCOS in Latin America. This consensus sought to evaluate the evidence-based practices for the management of PCOS for Latin American populations, consolidate regional insights, identify eventual gaps in implementation and identify key research opportunities.

Structural Disruption of Cilia and Increased Cytoplasmic Tubulin in Biliary Atresia-An Exploratory Study Focusing on Early Postoperative Prognosis Following Portoenterostomy.

Biliary atresia (BA) is a progressive hepatobiliary disease in infants, leading to liver failure and the need for transplantation. While its etiopathogenesis remains unclear, recent studies suggest primary cilia (PC) disruption plays a role. This study investigates correlations between PC and cytoplasmic tubulin (TUBA4A) alterations with hypoxia in patients with the isolated form of BA, focusing on native liver survival.

Ganciclovir Resistance-Linked Mutations in the HCMV Gene: Sanger Sequencing Analysis in Samples from Transplant Recipients at a Tertiary Hospital in Southern Brazil.

Human cytomegalovirus (HCMV) DNAemia remains a significant concern for transplant recipients, largely due to mutations in the viral genome that may lead to antiviral-resistant strains. Mutations in the gene are frequently associated with resistance to ganciclovir (GCV), highlighting the importance of early mutation detection to effectively manage viremia. This study aimed to optimize a Sanger sequencing protocol for analyzing GCV resistance-linked mutations in the HCMV gene from plasma samples of transplant patients treated at Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.

Validation of the Portuguese version of the Movement Disorder Society non-motor rating scale (MDS-NMS) in Parkinson's disease.

Background: The Movement Disorder Society Non-Motor Rating Scale (MDS-NMS) serves as a comprehensive clinical assessment tool for non-motor symptoms in Parkinson's disease (PD) OBJECTIVES: This study aims to validate the Portuguese version of the MDS-NMS, addressing the critical need for culturally adapted rating scales in Portuguese-speaking populations.

Methods: This multicenter, cross-sectional study engaged native Portuguese-speaking PD patients from 16 Movement Disorders Centers across Portugal and Brazil. We conducted a meticulous translation process into Portuguese, including forward-backward translation and cognitive pretesting.

The relevance of endoplasmic reticulum lumen and Anoctamin-8 for major depression: Results from a systems biology study.

Major depressive disorder (MDD) is a highly prevalent and debilitating disorder, yet its pathophysiology has not been fully elucidated. The aim of this study is to identify novel potential proteins and biological processes associated with MDD through a systems biology approach. Original articles involving the measurement of proteins in the blood of patients diagnosed with MDD were selected.

Short-term outcomes of low anterior resection with and without ileostomy for low, mid and upper rectal cancers.

Although the addition of an ileostomy to low anterior resection (LAR) may often be considered preventative of anastomotic leakage (AL), evidence that clearly demonstrates such benefit is lacking. This study aimed to identify the impact of adding an ileostomy upon AL and organ-space surgical site infection (SSI) rates in patients with lower, middle, or upper rectal cancer. This case-control study included rectal cancer patients who had undergone elective LAR in the American College of Surgeons-National Surgical Quality Improvement Program dataset between 2016 and 2022.

COVID-19 on patients with immune-mediated rheumatic disease: a comparative study of disease activity, fatigue, and psychological distress over six months.

Objectives: To compare the impact of COVID-19 on the clinical status and psychological distress of patients with immune-mediated rheumatic disease (IMRD) caused by SARS-CoV-2 infection with that of noninfected IMRD controls during a 6-month follow-up period.

Methods: The ReumaCoV Brazil is a longitudinal study designed to follow IMRD patients for 6 months after COVID-19 (patients) compared with IMRD patients without COVID-19 (controls). Clinical data, disease activity measurements and current treatments regarding IMRD and COVID-19 outcomes were evaluated in all patients.

New spirometry recommendations from the Brazilian Thoracic Association - 2024 update.

The latest pulmonary function guideline from the Brazilian Thoracic Association was published in 2002, since which there have been updates to international guidelines (mainly those from the European Respiratory Society and the American Thoracic Society), as well as new national and international publications on various aspects of the performance, interpretation, and clinical implications of spirometry. Despite those updates, a careful analysis of what applies to the reality in Brazil is essential, because there have been studies that evaluated individuals who are representative of our population and who could show responses different from those of individuals in other regions of the world. This document is the result of the work of a group of specialists in pulmonary function who evaluated relevant scientific articles that could be applicable to the population of Brazil.

Results of the Latin American Pediatric Oncology Group (GALOP-2011) Trial for Patients With Localized Ewing Sarcoma: A Multicentric Study of Interval-Compressed Multiagent Chemotherapy.

Background: GALOP investigators developed a prospective cooperative protocol for localized Ewing sarcoma (ES) incorporating interval-compressed chemotherapy (VDC/IE, vincristine, doxorubicin, cyclophosphamide/ifosfamide and etoposide). After completing conventional treatment, patients were randomized to 1 year of metronomic chemotherapy (vinblastine and cyclophosphamide).

Methods: Phase III randomized prospective trial.

The impact of different exercise modalities on chronic kidney disease: an umbrella review of meta-analyses.

Introduction: Exercise is widely recognized for its benefits to chronic kidney disease (CKD) patients. However, the specific impact of different exercise modalities on CKD-related outcomes remains unclear. This study sought to summarize the effects of different exercise modalities on the main outcomes impacted by CKD.

Relationship between fundus of the eye examination and arterial stiffness.

This review addresses the correlation between arterial stiffness, measured by pulse wave velocity (PWV), and retinal microvascular changes, highlighting the retina as an important accessible window for inferences about cardiovascular health. Arterial stiffness, intrinsically linked to vascular aging and several comorbidities, results in damage to the microcirculation, including ocular vasculature, which can act as a predictor of cardiovascular and cerebrovascular outcomes. The review highlights the relationship between PWV assessment and funduscopic examination, with the aim of improving diagnostic accuracy and optimizing the clinical application of these tools in the management of cardiovascular and ophthalmological diseases, thus promoting more effective and early intervention.

MALDI biotyper - Phenotypic identification test rapid assay (MBT-PITRA): A new method to detect KPC and NDM in Enterobacterales.

Carbapenemase-producing Enterobacterales are a growing concern in public health. In order to rapidly determine the antimicrobial profile, the MALDI Biotyper - antibiotic susceptibility test rapid assay (MBT-ASTRA) was developed, based on the relative growth of bacteria in the presence of antibiotics. In this study, we added carbapenemase enzymatic inhibitors to the MBT-ASTRA and developed an adapted method named MALDI Biotyper - Phenotypic Identification Test Rapid Assay (MBT-PITRA) in order to perform a rapid and cost-effective phenotypic test to detect Klebsiella pneumoniae carbapenemase (KPC) and New Delhi metallo-beta-lactamase (NDM), including co-producers, in Enterobacterales.

Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease.

Background: Machado-Joseph disease (SCA3/MJD) is a neurodegenerative condition caused by a dominant expansion of a CAG repeat (CAGexp). Most of the variability in the age at onset of symptoms (AO) remains unexplained, and environmental influences were scarcely studied.

Objective: The objective was to test if AO of SCA3/MJD carriers can be associated with markers of the rural environment, such as demographic density (DeD), proportion of rural population (PRP), and the consumption of untreated well water (CWW).

Access to healthcare: waiting time until the surgical procedure.

Background: Understanding the determinants that limit the population's access to surgical care in health services is highly relevant in order to provide data to support political interventions.

Objective: This study aimed to evaluate the time between diagnosis and elective surgery in adult patients with the longest waiting lists in Brazil; identify the determinants that interfere with access to the health service to perform surgery; and analyze the quality of life after the indicative diagnosis of surgical intervention.

Methods: A cross-sectional study was conducted with adult patients treated at three hospitals in the Southeast, North and South regions of Brazil, from October 2020 to October 2022.

A multicenter study on enteral autonomy outcome of pediatric intestinal failure patients from a middle-income country.

Background & Aims: To identify predictors of enteral autonomy and survival in pediatric intestinal failure patients followed up at three pediatric intestinal rehabilitation centers from a middle-income country.

Methods: This retrospective multicenter cohort study evaluated patients with intestinal failure from three high-volume intestinal rehabilitation centers on long-term parenteral nutrition between 2014 and 2023. The primary outcome was status at the end of the follow-up: parenteral nutrition dependence, enteral autonomy, transplantation, or death.

Clinical Interplay Between Autism Spectrum Disorder and Bipolar Disorder: A Narrative Review.

Introduction: Autism Spectrum Disorder (ASD) and Bipolar Disorder (BD) present significant challenges in diagnosis due to their complex nature. This review aims to examine the interface and overlapping features of these conditions.

Methods: We conducted a narrative review to examine clinical overlap, common psychiatric comorbidities, and shared neurobiological bases between ASD and BD.

L-carnitine protects against oxidative damage and neuroinflammation in cerebral cortex of rats submitted to chronic chemically-induced model of hyperphenylalaninemia.

Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically follow a phenylalanine-free diet supplemented with a synthetic formula that provides essential amino acids, including L-carnitine.

Differences and contributors to global cognitive performance in the underrepresented Latinx Parkinson's disease population.

Despite significant progress in understanding the factors influencing cognitive function in Parkinson's disease (PD), there is a notable gap in data representation for the Latinx population. This study aims to evaluate the contributors to and disparities in cognitive performance among Latinx patients with PD. A retrospective analysis was conducted based on cross-sectional data encompassing demographic, environmental, motor, and non-motor disease characteristics from the Latin American Research Consortium on the Genetics of PD (LARGE-PD) and the Parkinson's Progression Markers Initiative (PPMI) cohorts.

Predicting extubation failure in neonates: The role of lung ultrasound and corrected gestational age in safe weaning in the NICU.

Unlabelled: To evaluate the accuracy of the lung ultrasound score (LUS) in predicting ventilatory weaning failure during neonatal hospitalization in the NICU and to identify factors associated with weaning failure, including corrected gestational age (CGA). This prospective, longitudinal, pragmatic and observational cohort study included neonates on mechanical ventilation for at least 48 h. The primary outcome was the accuracy of lung ultrasound in predicting 3-day weaning failure, with the ROC curve used to determine the best LUS cutoff (sensitivity and specificity).

Prevalence of Anti-HIV Antibodies at 12 Months of Age in Infants Exposed to HIV.

This study determined the prevalence of reactive HIV serology at 12 months of age in infants exposed to HIV in utero. Of the 80 patients analyzed, 50 (63.3%) were anti-HIV reactive.

Solar-based technologies for removing potentially toxic metals from water sources: a review.

Technological advances have led to a proportional increase in the deposition of contaminants across various environmental compartments, including water sources. Heavy metals, also known as potentially toxic metals, are of particular concern due to their significant harmful impacts on environmental and human health. Among the available methods for mitigating the threat of these metals in water, solar radiation-based technologies stand out for their cleanliness, cost-effectiveness, and efficiency in removing or reducing the toxicity of heavy metals.