Einstein-Sao Paulo最新文献

{"title":"Quantification of Y RNAs in peripheral blood mononuclear cells from patients with ankylosing spondylitis and healthy controls.","authors":"Guilherme Castellani, Matheus Braga, Aléia Harumi Uchibaba Yamanaka, Giovana Paola Zaccarias Bemvides, Julyane Schavaren, Larissa Danielle Bahls Pinto, Quirino Alves de Lima Neto","doi":"10.31744/einstein_journal/2026AO2319","DOIUrl":"10.31744/einstein_journal/2026AO2319","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the expression of Y1, Y3, Y4, and Y5 in peripheral blood mononuclear cells from patients with ankylosing spondylitis and healthy controls.</p><p><strong>Methods: </strong>This case-control study included 10 patients with ankylosing spondylitis and 18 healthy controls from northern and northwestern Paraná, Brazil. The diagnosis of ankylosing spondylitis was confirmed by a rheumatologist according to the 2009 and 2011 ASAS criteria. Total RNA was extracted from peripheral blood using TRIzol reagent, treated with DNase I, and reverse-transcribed into cDNA. Y RNA expression was quantified by qPCR using SYBR™ Green, and the data were analyzed using Thermo Fisher Cloud.</p><p><strong>Results: </strong>Overall Y RNA expression did not differ significantly between patients and controls; however, lower ΔCt values, indicating higher Y1 and Y5 expression, were significantly associated with higher Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) scores. Pairwise comparisons showed that Y3 and Y4 were expressed at lower levels than Y1 and that Y4 expression was lower than Y3 and Y5 expression; no significant differences were observed between Y1 and Y5 or between Y3 and Y5 in either patients or controls.</p><p><strong>Conclusion: </strong>These findings suggest that Y1 and Y5 expression is associated with disease activity, although no statistically significant differences in overall Y RNA expression were observed between patients and controls.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eAO2319"},"PeriodicalIF":1.1,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glasgow Coma Scale in Brazilian Portuguese: foundation translation and cultural adaptation study.","authors":"Ana Camila de Castro Gandolfi, Patrícia Logullo, Moisés Cohen, Rachel Riera","doi":"10.31744/einstein_journal/2026AO2125","DOIUrl":"10.31744/einstein_journal/2026AO2125","url":null,"abstract":"<p><strong>Objective: </strong>To establish the foundation for the translation and culturally adaptation of the Glasgow Coma Scale into Brazilian Portuguese as part of a larger project translating and validating another tool, the SCAT-5, of which the Glasgow Coma Scale is a component. The Glasgow Coma Scale assesses the level of consciousness and neurological prognosis after traumatic brain injury. However, a systematic translation and cultural adaptation into Portuguese has never been performed.</p><p><strong>Methods: </strong>Three Brazilian individuals independently translated the original Glasgow Coma Scale from English to Portuguese. The Glasgow Coma Scale is divided into three separate modules: eye opening (scored between 1 and 4), verbal response (scored between 1 and 5), and best motor response (scored between 1 and 6). The total score is calculated by adding up the scores for each individual module, so it ranges between 3 and 15. Each sentence or expression within the original Glasgow Coma Scale questionnaire was evaluated individually. A multi-professional committee voted and discussed the best translation for each sentence or expression and combined them into a single version, which was back-translated into English by two separate native English professionals and compared with the original to resolve semantic discrepancies. The resulting combined and optimized version was tested twice in a fortnight and applied to 36 athletes who had suffered brain trauma, with cerebral concussion, and were treated in a sports-specialized ambulatory. This test was conducted to evaluate mainly the comprehension of the physician applying the translated questionnaire.</p><p><strong>Results: </strong>Patients were aged between 18 and 45 years, mostly rugby players (23/36), and female (23/36). There was no variability in the results between patients or between the same patient in both evaluations; all patients were consistently evaluated as having a Glasgow score of 15, since all patients were outpatients.</p><p><strong>Conclusion: </strong>This study laid the foundations for the translation and cultural adaptation of the Glasgow Coma Scale for Brazilian physicians. This translation may contribute to facilitating its use and standardizing the healthcare of patients with traumatic brain injury in Brazil. Further studies may be necessary to evaluate the use of the translated version in patients with lower levels of consciousness (i.e., lower Glasgow Coma Scale scores).</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eAO2125"},"PeriodicalIF":1.1,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the new frontier: technical, humanistic, and ethical skills in AI-augmented stroke care for vascular neurologists: a scoping review.","authors":"João Brainer Clares de Andrade, Rafael Pádua Gomes, Alexandre Cristiuma Robles, George Nunes Mendes, Thales Pardini Fagundes, Thiago Santos Carneiro","doi":"10.31744/einstein_journal/2026RW2050","DOIUrl":"10.31744/einstein_journal/2026RW2050","url":null,"abstract":"<p><strong>Background: </strong>Artificial Intelligence is increasingly embedded in stroke care, yet clear guidance on the competencies required for its safe and ethical use in vascular neurology is lacking.</p><p><strong>Objective: </strong>To map the literature on Artificial Intelligence applications across the stroke care continuum and to synthesize the technical, ethical-legal, and humanistic competencies needed for Artificial Intelligence-augmented clinical practice.</p><p><strong>Data sources: </strong>PubMed/MEDLINE, Embase, Scopus, Google Scholar, and targeted gray literature from professional and regulatory bodies.</p><p><strong>Eligibility criteria: </strong>Peer-reviewed studies, reviews, and consensus statements or guidance documents addressing Artificial Intelligence in stroke care or related ethicallegal and humanistic competencies. Case reports, exclusively preclinical studies, and non-scholarly publications were excluded.</p><p><strong>Methods: </strong>A scoping review was conducted according to PRISMA-ScR and JBI guidance, with independent screening and narrative thematic synthesis.</p><p><strong>Results: </strong>From 1,426 records, 74 studies were included. Validated Artificial Intelligence applications were identified in hyperacute imaging (e.g., automated ASPECTS and large-vessel occlusion detection), prognostication, complication prediction, and rehabilitation monitoring, with improvements in speed and precision. Key gaps included limited external validation, insufficient bias assessment, and weak implementation governance. Three competency domains emerged: technical (data literacy and model evaluation), ethical-legal (accountability, privacy and equity), and humanistic (empathy, communicationand shared decision-making). We propose \"clinical-Artificial Intelligence correlation\" as a core competency integrating algorithmic outputs with clinical judgment.</p><p><strong>Conclusion: </strong>Artificial Intelligence can enhance stroke care when combined with rigorous clinical oversight and strong ethical and humanistic foundations.</p><p><strong>Registration: </strong>10.17605/OSF.IO/G4W9J.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 spe1","pages":"eRW2050"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13689965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of digital automation of institutional pathways on test-ordering patterns in a primary health care.","authors":"Anderson Aires Eduardo, Lídia Maria Lourençön, Adriana Morelli Martins, Roberto Alves de Sousa Junior","doi":"10.31744/einstein_journal/2026AO2184","DOIUrl":"10.31744/einstein_journal/2026AO2184","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the impact of digital automation of institutional pathways on the adherence of test ordering to evidence-based best practices in a primary care setting for obesity.</p><p><strong>Methods: </strong>Observational, single-center, retrospective study comparing the periods before (2023) and after (2024) the implantation of a clinical decision support system. Outcomes: volume of tests adherent to protocols, distribution of ordering mix (entropy/perplexity), and test-specific differences (Poisson rate ratios). Rates per 100 visits were estimated, and incidence rate ratios (IRR) with 95% confidence intervals (95%CI) were estimated. The Mann-Whitney test was used to compare adherent tests per visit, alongside descriptive analyses (top-10 both in absolute and percentage changes).</p><p><strong>Results: </strong>Total orders: 347 (before) versus 787 (after); distinct test types: 117 versus 120. Adherent tests: 179 versus 413; IRR=1.63 (95%CI=1.37-1.96; p<0.001). Median of adherent tests per visit: 1.0 (before) versus 3.0 (after) (p=0.027). Perplexity: 70.9 (before) versus 57.6 (after), indicating increased concentration of orders in protocol-based tests. Among the top-10 absolute growth tests, 9/10 were protocol-based; among the top-10 by percentage change, 0/10.</p><p><strong>Conclusion: </strong>Digital automation of the pathway was associated with greater adherence to institutional protocols and with a test-ordering pattern more concentrated in core protocol tests.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eAO2184"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Canal of Nuck hernia as an unusual cause of inguinal pain in women: a case report and laparoscopic management.","authors":"Claudio Zambotti, Giovanna Paes Scarin, Alexia Nascimento Arias, Luana Perrone Camilo, Gustavo Yano Callado, Eduardo Félix Martins Santana","doi":"10.31744/einstein_journal/2026RC1823","DOIUrl":"10.31744/einstein_journal/2026RC1823","url":null,"abstract":"<p><p>We report a rare case of canal of Nuck herniation in an adult woman. It results from a persistent processus vaginalis, which can lead to the formation of hernias or hydroceles. A 34-year-old woman presented with acute right inguinal pain, and an ultrasound revealed a patent canal of Nuck containing a herniated intra-abdominal structure. The patient underwent laparoscopic transabdominal preperitoneal inguinal hernia repair, during which the hernia sac was successfully managed, and a polypropylene mesh was placed to reinforce the myopectineal orifice. This minimally invasive approach contributed to a rapid postoperative recovery, as evidenced by discharge on the first postoperative day. This case report underscores the importance of early imaging in diagnosing rare inguinal hernias in women and demonstrates the safety and effectiveness of laparoscopic transabdominal preperitoneal repair for canal of Nuck herniation.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eRC1823"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence in Telemedicine: philosophical, ethical, and epistemological dimensions of a transforming practice.","authors":"Agnaldo Rodrigues da Costa, Carlos Henrique Sartorato Pedrotti, Tarso Augusto Duenhas Accorsi","doi":"10.31744/einstein_journal/2026AE2371","DOIUrl":"10.31744/einstein_journal/2026AE2371","url":null,"abstract":"<p><p>In the aftermath of the COVID-19 pandemic, telemedicine has evolved from a contingency-based alternative into a structural pillar of healthcare delivery, increasingly being integrated with artificial intelligence. Algorithms for triage, clinical decision support, remote monitoring, and generative language models now actively participate in medical care. This integration is more than just functional; it reorganizes the foundational aspects of medicine-ontological, ethical, and epistemological-by redefining what qualifies as valid knowledge, who has legitimate authority, and how care is organized when an algorithmic agent facilitates the clinical interaction. This article critically examines the emergence of the patient-clinician-algorithm triad in telemedicine, and analyzes its implications for autonomy, informed consent, epistemic trust, privacy, justice, responsibility, and the phenomenology of care. It argues that the future of medicine will not be human or algorithmic but human-algorithmic, provided clinical judgment, explainability, and moral responsibility remain central.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 spe1","pages":"eAE2371"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13689968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in mechanical ventilation over the past 25 years: from protective ventilation to post-ICU recovery.","authors":"Caroline Gomes Mól, Carmen Silvia Valente Barbas, Bruno Franco Mazza, Raquel Afonso Caserta Eid, Thais Dias Midega","doi":"10.31744/einstein_journal/2026Suppl_5ED0001","DOIUrl":"10.31744/einstein_journal/2026Suppl_5ED0001","url":null,"abstract":"","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 suppl 5","pages":"eED0001"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feedback loops and circular causality: a grammar to restore harmony to physiological systems.","authors":"Felipe Coelho Argolo","doi":"10.31744/einstein_journal/2026RW2240","DOIUrl":"10.31744/einstein_journal/2026RW2240","url":null,"abstract":"<p><p>Causal inference and its graphical representation using directed acyclic graphs provide invaluable tools for calculating effects and handling confounding in medicine. However, since biological systems involve complex dynamics characterized by numerous feedback loops, practitioners need to abstract out the inner workings of cycles in order to reason with a causal framework. This text presents a step beyond linear causality, toward a language that can adequately capture the circular complexities underlying human health. The most fundamental homeostatic mechanisms are inherently cyclic, including sleep-wake states, hormonal regulation, hemodynamics, respiration, blood cell production, eating, and digesting. In fact, numerous medical interventions aim to restore harmonious activity within such systems, reversing dysfunctional states by appropriately modifying certain elements. These include sleep hygiene, synchronized cardioversion, mechanical ventilation, glycemic periodic control with insulin. This study describes medical contexts using cyclic graphs, covering interventions such as control of hormonal cycles in reproductive medicine. Health practitioners can benefit from this enriched perspective, which parsimoniously describes the fundamental behavior of disease processes.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 spe1","pages":"eRW2240"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13689974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-linked hypophosphatemic rickets: case report with perspectives and challenges.","authors":"Beatriz Almeida Ribeiro, Henrique Massashi Soga, Fernanda Teresa de Lima, Amancio Ramalho Júnior, Cintia Giunchetti Strabelli Nascimento, Eduardo Juan Troster, Teresa Cristina Gomes Alfinito Vieira","doi":"10.31744/einstein_journal/2026RC1788","DOIUrl":"10.31744/einstein_journal/2026RC1788","url":null,"abstract":"<p><p>X-linked dominant hypophosphatemic rickets (XLH) is a rare genetic disorder caused by mutations in the PHEX gene and characterized by chronic hypophosphatemia due to dysregulation of fibroblast growth factor 23 (FGF23). This condition leads to bone deformities, growth impairment, and chronic pain. Conventional treatment with oral phosphate and calcitriol often has limited efficacy and is associated with adverse effects such as hyperparathyroidism and nephrocalcinosis. This case report describes the therapeutic outcomes of three pediatric patients with XLH treated with burosumab, a monoclonal antibody targeting FGF23. Burosumab acts directly on the underlying pathophysiology of the disease, improving phosphate homeostasis and bone metabolism. The patients showed improvements in clinical symptoms and biochemical parameters, with fewer adverse effects and greater treatment adherence compared with traditional therapy. These findings highlight burosumab as a promising and potentially more effective alternative for managing XLH in pediatric patients.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eRC1788"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feeding challenges faced by Brazilian children and adolescents with infantile neuroaxonal dystrophy (INAD) adversely impact nutrient intake and nutritional status.","authors":"Laura Fantazzini Grandisoli, Danilo de Assis Pereira, Natália Cristina Marques Spuzzillo, Verônica Leite Sakalauskas, Luis Armando Souza Vieira, Maria Eduarda Munhoz Simeão Baganha, Mariana Battaglin Villas Boas Álvaro, Reinaldo José Gianini","doi":"10.31744/einstein_journal/2026AO1914","DOIUrl":"10.31744/einstein_journal/2026AO1914","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the nutritional profile, dietary intake, and feeding characteristics of Brazilian children and adolescents with infantile neuroaxonal dystrophy, comparing exclusively orally fed and gastrostomy-fed participants.</p><p><strong>Methods: </strong>This retrospective cross-sectional study included 21 genetically confirmed patients with infantile neuroaxonal dystrophy between July 2023 and March 2024. Data collection involved 24-hour dietary recalls, anthropometric measurements, and assessment of dysphagia using the Functional Oral Intake Scale. Nutritional status and intake were compared using the Mann-Whitney U test (p<0.05).</p><p><strong>Results: </strong>Twelve participants (57%) received gastrostomy feeding. Among orally fed participants (n=9), 66.7% required food texture modifications and 88.9% exhibited symptoms suggestive of dysphagia. Weight-for-age Z-scores tended to be lower in the exclusively orally fed group than in the gastrostomy-fed group (-2.10 versus -0.34, p=0.072). Micronutrient intake, including vitamins A, D, E, folic acid, and B12, was lower in the exclusively orally fed group than in the gastrostomy-fed group. Ultra-processed foods were frequently consumed, leading to a monotonous diet.</p><p><strong>Conclusion: </strong>Feeding difficulties are common among patients with infantile neuroaxonal dystrophy and are associated with impaired nutritional intake and suboptimal growth, particularly in exclusively orally fed individuals. These findings underscore the importance of individualized nutritional strategies and multidisciplinary care to address dysphagia and optimize nutritional outcomes.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"24 ","pages":"eAO1914"},"PeriodicalIF":1.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}