Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.
View Article and Find Full Text PDFRev Panam Salud Publica
December 2024
Endocrinol Diabetes Nutr (Engl Ed)
December 2024
Introduction: Self-perception of body image has been scarcely evaluated in people with Prader-Willi syndrome (PWS), who, in addition to intellectual disability, are often obese. Therefore, we explored whether people with PWS can accurately identify their true image and how this self-perception is impacted by their neuropsychological profile.
Methodology: This observational study included patients with PWS with regular attendance to transdisciplinary treatment at a center specialized in the management of rare diseases.
Cleft lip and palate are the most common congenital anomalies of the cranial segment worldwide. Particularly in low-income and middle-income countries, these conditions are associated with increased morbidity and mortality, socioeconomic challenges, and considerable psychological and social integration difficulties for affected individuals. This study aims to evaluate the epidemiological profile of patients with these conditions treated at a newly established specialized center in the Brazilian Amazonian Region.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFBackground: The Gender Equity Initiative in Global Surgery organization launched a mentorship program to address the limited opportunities available in low-and-middle-income countries (LMICs). We aimed to evaluate the utility of the virtual program in bridging this critical gap.
Methods: A retrospective review of program surveys containing quantitative and qualitative questions from 2022 to 2023 was performed.
Purpose: Illicit cosmetic injections remain highly prevalent and can cause serious complications, including death. We aimed to explore existing literature regarding the use of illicit cosmetic injections globally.
Methods: We searched six databases with no language restriction from inception to 2022.
J Craniofac Surg
October 2024
Orofacial clefts are the most common congenital craniofacial anomalies worldwide, and if not managed in a timely manner, can lead to significant complications. We aim to examine surgical timing at one of the few cleft care centers in the North region of Brazil since its foundation in 2016. This retrospective, descriptive study analyzed medical records from 2016 to 2023.
View Article and Find Full Text PDFOn the sidelines of the 75th Session of the Regional Committee of the World Health Organization for the Americas, the Republic of Ecuador hosted an event to expand on National Surgical, Obstetric, and Anaesthesia Plans (NSOAPs). NSOAPs are policy frameworks that offer governments a pathway to incorporate surgical planning into their overall health strategies. In Latin America, Ecuador became the first country to lead the development of an NSOAP and is fostering regional efforts for other Latin American countries to have sustainable surgical strengthening plans.
View Article and Find Full Text PDFIntroduction: In Brazil, approximately 5% are born with a congenital disorder, potentially fatal without surgery. This study aims to evaluate the relationship between gastrointestinal congenital malformation (GICM) mortality, health indicators, and socioeconomic factors in Brazil.
Methods: GICM admissions (Q39-Q45) between 2012 and 2019 were collected using national databases.
Introduction: Over 90% of pediatric trauma deaths occur in low- and middle-income countries (LMICs), yet pediatric trauma-focused training remains unstandardized and inaccessible, especially in LMICs. In Brazil, where trauma is the leading cause of death for children over age 1, we piloted the first global adaptation of the Trauma Resuscitation in Kids (TRIK) course and assessed its feasibility.
Methods: A 2-day simulation-based global TRIK course was hosted in Belo Horizonte in October 2022, led by one Brazilian and four Canadian instructors.
Background: Pediatric trauma is a significant cause of child mortality, and the absence of non-technical skills (NTS) among health providers is linked with errors in patients' care. In this study, we evaluate the effectiveness of a structured debriefing protocol in enhancing NTS during pediatric trauma simulation.
Methods: A total of 45 medical students were successfully recruited from two medical schools, one in Brazil and one in Canada.
Purpose: Studies exploring patient-centered care (PCC) in pediatric surgery have been disproportionately concentrated in high-income countries. This review aims to characterize the adoption of key PCC domains in low and lower-middle income countries (LMICs).
Methods: Seven databases were searched from inception until January 2023 to retrieve relevant articles in pediatric surgery in LMICs.
Introduction: Obesity is highly prevalent in patients with Prader-Willi syndrome (PWS), particularly among adults. This condition, which can be morbid in many cases, is multifactorial and has a complex management. The purpose of our study was to describe the feasibility of achieving a better nutritional status, including normal weight in individuals diagnosed with PWS, through specific nutritional interventions within the framework of a transdisciplinary treatment and without resorting to pharmacological treatments or growth hormone (GH).
View Article and Find Full Text PDFIntroduction: Recent studies revealed that coronavirus disease 2019 (COVID-19) negatively impacted residency programs worldwide, particularly procedure-based programs. However, most studies are from high-income countries, with scarce data from low- and middle-income countries. Pandemic effects on surgical training were likely worse in strictly apprenticeship models relying heavily on surgical volume as opposed to competency-based programs.
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