Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.

Objective: To analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis.

Methods: This is a descriptive study with patients treated between 2016 and 2021 at a referral hospital service located in Curitiba, Paraná, Brazil. Clinical and epidemiological data were obtained from medical records, as were the results of genetic tests at the hospital's clinical analysis laboratory.

A Strong Link Between Oceanographic Conditions and Zooplankton δC and δN Values in the San Jorge Gulf, Argentina.

Maps of (baseline) δC and δN values of primary producers or consumers near the base of food webs provide crucial information for interpreting patterns in the isotopic composition of consumers that occupy higher trophic levels. In marine systems, understanding how oceanographic variables influence these values enables the creation of dynamic isoscapes across time and space, providing insights into how ecosystems function. The San Jorge Gulf (SJG) in the southwest Atlantic Ocean (45° S-47° S) is an area of particular importance, as it is located on one of the most productive continental shelves in the world, supporting large fisheries and marine mammal and seabird populations.

Baseline colitogenicity and acute perturbations of gut microbiota in immunotherapy-related colitis.

Immunotherapy-related colitis (irC) frequently emerges as an immune-related adverse event during immune checkpoint inhibitor therapy and is presumably influenced by the gut microbiota. We longitudinally studied microbiomes from 38 ICI-treated cancer patients. We compared 13 ICI-treated subjects who developed irC against 25 ICI-treated subjects who remained irC-free, along with a validation cohort.

Examining the surgical backlog due to COVID-19 in Latin America and the Caribbean: insights from a scoping review.

This scoping review assessed the surgical backlog in Latin America and the Caribbean (LAC) due to COVID-19 and identified mitigation strategies. We searched seven databases for citations from December 2019 to December 2022, focusing on LAC patients with cancelled or postponed procedures. We registered our protocol at Open Science Framework (https://osf.

T cell epitope mapping reveals immunodominance of evolutionarily conserved regions within SARS-CoV-2 proteome.

As SARS-CoV-2 variants continue to emerge capable of evading neutralizing antibodies, it has become increasingly important to fully understand the breadth and functional profile of T cell responses to determine their impact on the immune surveillance of variant strains. Here, sampling healthy individuals, we profiled the kinetics and polyfunctionality of T cell immunity elicited by mRNA vaccination. Modeling of anti-spike T cell responses against ancestral and variant strains of SARS-CoV-2 suggested that epitope immunodominance and cross-reactivity are major predictive determinants of T cell immunity.

Brazilian consensus recommendations on the diagnosis and treatment of autoimmune encephalitis in the adult and pediatric populations.

Background:  Autoimmune encephalitis (AIE) is a group of inflammatory diseases characterized by the presence of antibodies against neuronal and glial antigens, leading to subacute psychiatric symptoms, memory complaints, and movement disorders. The patients are predominantly young, and delays in treatment are associated with worse prognosis.

Objective:  With the support of the Brazilian Academy of Neurology (Academia Brasileira de Neurologia, ABN) and the Brazilian Society of Child Neurology (Sociedade Brasileira de Neurologia Infantil, SBNI), a consensus on the diagnosis and treatment of AIE in Brazil was developed using the Delphi method.

Safety profile assessment of HPV4 and HPV9 vaccines through the passive surveillance system of the Veneto Region (Italy) between 2008 and 2022: A 15-year retrospective observational study.

In Veneto Region, HPV vaccine has been actively offered to 12 year-old females since 2008, and to 12 year-old males since 2015. The study aims to analyze the safety profile of HPV4v and HPV9v vaccines and perform a case-by-case review of conditions of interest. Spontaneous reports related to HPV uploaded to the database of the Regional Pharmacovigilance Center between 2008-2022 were included.

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Introduction: Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil, it is necessary to describe the phenotypic and genotypic characteristics of these patients.

Elements of Weight Management Among Pre-Kidney Transplant Candidates: The Patient Perspective.

Obesity and related comorbidities heighten risks for complications in kidney transplant settings. While pre-transplant patients often have access to nutrition counseling and health support, literature is limited on patients' perceptions of weight and motivation to lose weight prior to transplantation. We conducted a survey among ≥18-year-old patients on the kidney transplant waitlist at a single center.

Superparamagnetic iron oxide (SPIO) for sentinel lymph node detection in vulvar cancer.

Objectives: Sentinel lymph node (SLN) detection with superparamagnetic iron oxide (SPIO) nanoparticles has been widely studied and standardized for breast and prostate cancer, but there is scarce evidence concerning its use in vulvar cancer. The objective of this study was to compare SLN detection using a SPIO tracer injected at the time of the surgery detected by a magnetometer, with the standard procedure of using a technetium 99 radioisotope (Tc99) detected by a gamma probe, in patients with vulvar cancer.

Methods: The SPIO vulvar cancer study was a single-center prospective interventional non-inferiority study of SPIO compared to Tc99, conducted between 2016 and 2021 in patients who met the GROINSS-V study inclusion criteria for selective sentinel lymph node dissection in vulvar cancer.

Neurodevelopmental disorder associated with gene ARF3: A case report.

We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.

Rethinking referral systems in rural chiapas: A mixed methods study.

Background: Despite the assurance of universal health coverage, large disparities exist in access to surgery in the state of Chiapas. The purpose of this study was to determine the effectiveness of the surgical referral system at hospitals operated by the Ministry of Health in Chiapas.

Methods: 13 variables were extracted from surgical referrals data from three public hospitals in Chiapas over a three-year period.

Characteristics and Risk Factors of Central Nervous System Infection in Children With Febrile Seizures.

Objective: The aim of the present study is to evaluate the necessity of performing lumbar puncture in patients experiencing febrile seizures, considering the epidemiology specific to Brazil.

Methods: A retrospective cross-sectional study was performed from January 2017 to December 2021.

Results: A total of 469 children with seizure and fever were analyzed.

Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.

This article describes the rationale, aims, and methodology of the Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ). This is the largest international collaboration to date that will develop algorithms to predict trajectories and outcomes of individuals at clinical high risk (CHR) for psychosis and to advance the development and use of novel pharmacological interventions for CHR individuals. We present a description of the participating research networks and the data processing analysis and coordination center, their processes for data harmonization across 43 sites from 13 participating countries (recruitment across North America, Australia, Europe, Asia, and South America), data flow and quality assessment processes, data analyses, and the transfer of data to the National Institute of Mental Health (NIMH) Data Archive (NDA) for use by the research community.

Deep learning-based analysis of basins of attraction.

This research addresses the challenge of characterizing the complexity and unpredictability of basins within various dynamical systems. The main focus is on demonstrating the efficiency of convolutional neural networks (CNNs) in this field. Conventional methods become computationally demanding when analyzing multiple basins of attraction across different parameters of dynamical systems.

Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.

Background: Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America.

Methods: We analyzed the data of patients diagnosed with OMS between 2010 and 2020 at Pequeno Principe Hospital (Brazil) to determine the corresponding clinical profile more accurately.