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ABSTRACT Objective To describe the clinical characteristics and perform a multi-step bioinformatics evaluation of the pathogenicity of NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9), an MSH2 germline variant detected in a family with Lynch syndrome. Methods Clinical evaluation included description of phenotype, family history, and immunohistochemical characterization of the proband’s tumors. For pathogenicity classification according to the American College of Genetics and Genomics/Association for Molecular Pathology (ACMG/APA) criteria, bioinformatics analyses included: (i) literature and database screening, searching for the variant allele frequency, case reports, or functional studies, including ClinVar, VarSome, Ensembl, PubMed, EVA, and ABraOM; (ii) prediction of variant impacts using ExPASy Translate, Pfam, and Modeller 9.24; and, (iii) mechanisms that could mitigate the effects of the variant included alternative splicing and exon skipping (UniProt and GTex) and nonsense-mediated decay (NMD; MutationTaster2021). Results The proband, a 55-year-old female, was diagnosed with two metachronous colorectal cancers. Immunohistochemical analysis showed loss of expression ( MSH2 in one tumor, and MSH2 and MSH6 in the other). Seven deceased family members were diagnosed with cancer (four colorectal, one uterine, and two unspecified). This variant caused a stop codon in MSH2 exon 12 of 16. When translated, the protein loses 294 C-terminal residues, which may prompt protein degradation. If the mutated protein escapes degradation, dimerization and DNA-binding domains will be present. Therefore, negative dominance effects were possible. No isoforms ending in exon 12 have been identified in the literature or in RNA splicing databases. A stop codon before the last exon-exon boundary indicated the occurrence of NMD. Conclusion No evidence of protein-rescuing mechanisms was found, supporting the classification of this variant as likely pathogenic/pathogenic.

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ABSTRACT Objective To analyze the association of physical disability with medical care and health center infrastructure satisfaction among users of medical offices in Peru in 2016. Methods We conducted a cross-sectional analysis of secondary data from the 2016 National Health User Satisfaction Survey (ENSUSALUD). The independent variable was self-reported physical disability and the dependent variables were satisfaction with medical care and health facility infrastructure. Sociodemographic variables and variables related to user satisfaction were included as confounding factors. We conducted multiple linear regression analysis and estimated β coefficients with their corresponding 95% confidence intervals (95%CI). The ENSUSALUD 2016 sample design was accounted for in all calculations. Results After adjusting for confounders, individuals with moderate physical disabilities reported an average of 1.96 fewer points (95%CI=-2.95 to -0.97) in satisfaction with medical care compared to that of those without physical disabilities. Similarly, individuals with moderate and severe physical disabilities reported averages of 1.86 (95%CI=-2.75 to -0.96) and 6.40 (95%CI=-9.58 to -3.22) fewer points, respectively, in satisfaction with the healthcare facility infrastructure compared to those of individuals without physical disabilities. Conclusion In Peru, people with physical disabilities who use medical offices reported lower satisfaction with medical care and infrastructure of health facilities compared to that of those without physical disabilities.

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ABSTRACT Objective This study aimed to analyze the possible association between rs2814778, rs12075 ( ACKR1 gene), and rs4073 ( CXCL8 gene) single nucleotide variants and COVID-19 severity. Methods This cross-sectional study included 319 COVID-19 diagnosed patients at two hospitals in Paraná, Brazil between 2020 and 2021. Among them, 171 cases were classified as severe or critical and 148 were classified as non-severe. Genotyping was performed using polymerase chain reaction. Results We found an association between the rs2814778 variant of the ACKR1 gene and COVID-19 severity. The C allele in both the T/C and C/C genotypes was identified as a risk factor for severe COVID-19, independent of sex, age, smoking status, cardiovascular disease, diabetes, or obesity. No evidence of an association was observed for the other variants. Conclusion The presence of the C allele in the rs2814778 variant indicated an increased risk of severe or critical COVID-19 in the southern Brazilian population across all possible genotypes and genetic inheritance models.

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Abstract Objective: Cardiovascular diseases remain the leading cause of mortality, and obesity is a significant risk factor. This study aimed to investigate the impact of a structured nutritional intervention on weight loss, heart rate variability, and biochemical profiles in obese patients with high cardiovascular risk. Methods: This was a non-randomized, uncontrolled study on the effectiveness of an institutional nutritional program. Heart rate variability measurements were obtained at baseline and after the nutritional program using a six-channel digital electrocardiograph. Results: This study included 24 patients with obesity (body mass index >30kg/m²), aged 42-80 years, who underwent a 3-month nutritional program. Significant reductions in body weight (p=0.043), body mass index (p=0.042), and waist circumference (p=0.031) were observed. Biochemical profiles improved, with decreased glycated hemoglobin (p=0.015), total cholesterol (p=0.001), LDLc (p=0.047), and triglycerides (p=0.021), while HDLc remained unchanged. Heart rate variability analysis revealed significant post-nutritional program decreases in low-frequency (p<0.001) and low-frequency/high-frequency ratios (p<0.001), and an increase in high-frequency (p<0.001), suggesting improved autonomic balance. No significant changes were observed in the heart rate, SDNN, pNN50, rMSSD, or triangular index. Conclusion: These findings suggest that moderate weight loss can positively influence autonomic function and several cardiovascular risk factors in obese patients with high cardiovascular risk. The nutritional program could be an important adjunctive strategy in the management of patients treated at tertiary care hospitals, offering a promising avenue for cardiovascular risk factor management and building a supportive environment for healthy eating habits.

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Abstract Objective: To evaluate the effects of inspiratory muscle training using POWERbreathe® in patients undergoing myocardial revascularization with extracorporeal circulation, focusing on respiratory and peripheral muscle strength, exercise capacity, functional independence, and quality of life, from hospitalization to a 30 and 90 day followup. Methods: This randomized controlled clinical trial included 70 patients aged 44-78 years who were randomized into two groups. The Control Group underwent conventional physical therapy (Control Group, n=34), whereas the Intervention Group underwent conventional physical therapy combined with inspiratory muscle training using POWERbreathe® (Intervention Group, n=36). Respiratory and peripheral muscle strength, capacity, functional independence, and quality of life were evaluated preoperatively and 5, 30, and 90 days after surgery. Results: A statistically significant increase in exercise capacity in the Intervention Group was observed 90 days after surgery (p=0.0192), as well as in the functional capacity domain of quality of life at 30 and 90 days after surgery (p=0.0079). The maximal inspiratory pressure and handgrip strength showed a negative correlation, ranging from weak to moderate intensity, in both groups over time. Conclusion: Inspiratory muscle training with the POWERBreathe combined with physical therapy improves exercise capacity and quality of life in patients undergoing myocardial revascularization. Prospero database registration: RBR-2p4mz5.

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ABSTRACT Objective: This study aimed to compare guided dorsal forebrain neural organoids with unguided neural organoids, focusing on differences in structural organization, cellular composition, and functional properties. Methods: Using the same human induced pluripotent stem cell line, we applied two established differentiation protocols in parallel to generate guided and unguided neural organoids. Results: Guided neural organoids exhibited reproducible cytoarchitecture, relatively homogeneous morphology, and robust network activity, making them particularly well-suited for modeling specific aspects of cortical neurodevelopment and neurodevelopmental disorders. In contrast, unguided neural organoids displayed greater heterogeneity in morphology and cellular composition, including prominent development of astrocytes, microglia, and choroid plexus-like structures that respond to inflammatory stimuli, positioning them as valuable models for studying neuroinflammation during brain development. Conclusion: These findings emphasize the importance of selecting neural organoids protocols based on specific research questions, and suggest that the guided and unguided approaches can complement each other to provide insights into neurodevelopmental and neuroinflammatory processes.

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ABSTRACT Objective The choice of crystalloid solution considerably affects perioperative outcomes in neurosurgery. This study aimed to evaluate the effects of Plasma-Lyte 148 and 0.9% saline on acid-base and hydroelectrolyte balance in adults undergoing elective neurosurgical procedures. Methods A double-blind randomized controlled trial was conducted at Botucatu Medical School from November 2019 to May 2020. Patients received either Plasma-Lyte 148 or 0.9% saline at a maintenance rate of 2mL/kg/h, with additional bolus guided by mean arterial pressure and pulse pressure variation. The primary endpoint was arterial pH at the end of surgery. Results Sixty-eight patients (33 in the Plasma-Lyte 148 group and 35 in the saline group) completed the study. The total median volumes administered (1st-3rd quartiles) were 2,227 (1,416-3,000) and 3,000 (2,000-4,000) mL in the Plasma-Lyte 148 and saline groups, respectively (p=0.107). At procedure completion, Plasma-Lyte 148 demonstrated superior acid-base homeostasis with significantly higher pH (7.39±0.04 versus 7.35±0.05, p<0.001), bicarbonate (22.5±1.8 versus 20.6±2.2mmol/L, p<0.001), and base excess (−1.6±2.3 versus −3.9±2.6, p<0.001), while preventing hyperchloremia (109.1±6.6 versus 113.9±4.5 mmol/L, p=0.001). Conclusion Plasma-Lyte 148 provides superior acid-base homeostasis compared to 0.9% saline in patients undergoing neurosurgery, with significantly better pH, bicarbonate, and base excess profiles while avoiding hyperchloremia. These findings support the preferential use of balanced crystalloids in neurosurgical practice, aligning with current evidence favoring Plasma-Lyte 148 for optimal perioperative fluid management. ReBEC platform registration number: RBR-2592-hd.

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ABSTRACT Objective Coronavirus disease 2019 (COVID-19) caused increased intensive care unit admissions, invasive procedures, and antimicrobial use, potentially worsening bacterial infections and multidrug resistance. Retrospective studies have found that Klebsiella pneumoniae co-infections in COVID-19 patients were significant and possibly linked to mechanical ventilation and central catheter placement. In the present study, we assessed the genetic diversity and antimicrobial resistance of K. pneumoniae isolates collected before and during the pandemic to evaluate the effect of the pandemic on these factors. Methods Antimicrobial resistance profiling, whole-genome sequencing, and phylogenetic analyses were used to examine resistance patterns, genetic diversity, and mobile genetic elements. Results From January 2018 to January 2021, 263 K. pneumoniae isolates were identified from infection sites. Carbapenem-resistant isolates increased from 32.5% in 2019 to 60.3% in 2020, remaining stable until January 2021. Nevertheless, healthcare-associated infections did not increase significantly, highlighting the effectiveness of infection control programs. Whole-genome sequencing showed that 54% of carbapenem-resistant isolates carried plasmids resembling pKPC_FCF3SP (IncN) and pKpQIL-like (IncFII) plasmids; however, the number of pKpQIL-like plasmid carriers declined during the pandemic likely due to patient transfer carrying isolates with distinct mobilome. Simultaneously, the number of plasmid-negative isolates increased by 25%. Carbapenem-resistant isolates showed multidrug resistance, particularly to cephalosporins and fluoroquinolones; however, aminoglycosides remained effective. Genetic analysis identified ten aminoglycoside resistance genes, with aac(6′)-Ib-D181Y associated with improved substrate recognition, being the most prevalent. Virulence factors included four integrative conjugative elements, with the integrative conjugative element K. pneumoniae ICEKp4 found only in pandemic period isolates. The O4 and O2 antigens predominated, whereas O3b appeared exclusively during the pandemic. Conclusion The COVID-19 pandemic has contributed to a rise in carbapenem-resistant K. pneumoniae , underscoring the need for ongoing surveillance. Molecular shifts reflect the adaptation of the pathogen to evolving clinical settings.

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Abstract Objective This study aimed to translate and evaluate the measurement properties of the Sexual Risk Behaviors Scale into Brazilian Portuguese for use in university students. Methods Content validity was assessed by experts and Brazilian adults. Structural validity was assessed using a confirmatory factor analysis. Internal consistency and test-retest reliability were assessed using McDonald’s Omega and intraclass correlation coefficient (ICC), respectively. Measurement invariance between females and males was evaluated using multigroup confirmatory factor analysis. The measurement error and floor and ceiling effects were also evaluated. Results The experts and Brazilian adults suggested that the five-item Sexual Risk Behaviors Scale was more relevant, comprehensive, and comprehensible. In total (n=633; 22.8±2.0 years), 362 (57.2%) women and 271 (42.8%) men participated in the study. Structural validity indicated a one-factor structure as the best-fitting model, and the internal consistency was sufficient (McDonald’s Omega=0.723). There was measurement invariance between females and males. The test-retest reliability was found to be sufficient (ICC=0.873). Moreover, no systematic error were observed. There was a floor effect across the entire sample. Conclusion The Sexual Risk Behaviors Scale is valid and reliable for assessing sexual risk behaviors in university students in Brazil.

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ABSTRACT Introduction Population aging is a significant global challenge, demanding strategies that promote healthy aging. Regular physical activity is crucial for maintaining functional capacity, quality of life, and preventing chronic diseases in older adults. However, sedentary behavior remains high, and evidence on effective, supervised smartphone-based exercise strategies for older adults is limited. Objective To evaluate the effects of smartphone-based exercises with in-person or remote therapeutic supervision on functional capacity. Methods Thirty-four older adults were randomized into two training groups with App-based exercises: a Control Group with in-person supervision and an Experimental Group with remote supervision. The exercises were performed three times a week for 8 weeks. The Experimental Group performed exercises at homes with remote supervision, and the Control Group performed exercises in the laboratory. Functional capacity was measured using the Glittre Activities of Daily Living (Glittre ADL) test, postural balance with the Mini Balance Evaluation Systems Test, and lower limb strength with the Five Times Sit-to-Stand test. Results Both groups demonstrated significant improvement in functional capacity. After 8 weeks, Glittre-ADL test time reduced similarly in both groups (Experimental Group: 217±63 to 188±47 s and Control Group 194±34 to 171±30 s, ES=0.09). Postural balance improved similarly in both groups (ES=0.15), and the lower limb strength improved in the Experimental Group (ES=0.32). Conclusion A smartphone App-based exercise program, with and without in-person supervision, improved functional capacity and postural balance in older adults, whereas lower limb strength improved only with in-person supervision. Brazilian Registry of Clinical Trials: RBR-22ctkjq.

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ABSTRACT Objective: To assess the feasibility and benefits of transoral robotic surgery in the public healthcare system and to conduct a cost analysis of its implementation. Methods: This prospective, nonrandomized, observational cohort study was conducted over 24 months and included patients with T1-T2 oropharyngeal and supraglottic laryngeal tumors. Results: Thirty patients were included. The mean surgery duration was 204 min, and the mean hospital stay was 2.1 days. Postoperative complications included one case of bleeding and one case of aspiration. The estimated 5-year survival rate was 77%. Cost analysis revealed a higher initial cost for robotic surgery compared with conventional approaches; however, reduced postoperative complications mitigated the overall expenses. Conclusion: Transoral robotic surgery is a feasible and safe option within the public healthcare system. It enables highly complex procedures with faster postoperative recovery, lower morbidity, and survival outcomes comparable to conventional approaches.

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ABSTRACT Objective: Transthoracic echocardiography is essential for hemodynamic assessment in critically ill patients; however, its use in the prone position remains challenging. This study aimed to assess the feasibility of performing transthoracic echocardiography using a low-cost ultrasound table adaptation in the prone position. Methods: This was a single-center, cross-sectional, comparative pilot study. Anthropometric and clinical data were collected along with echocardiographic image acquisition in the conventional and prone positions by the same operator. Feasibility was assessed by the acquisition of echocardiographic windows and the number of key variables in both positions. Comparative analyses were conducted for image quality, examination duration, and quantitative parameters such as variables related to systemic congestion, biventricular function, and cardiac output estimation. Statistical analysis was performed using the Wilcoxon signed-rank test, Fisher's exact test, binomial test, and false discovery rate correction for multiple comparisons. Results: Echocardiographic views were obtained for all patients in both positions. Imaging in the prone position allowed consistent acquisition of 16 of 17 key variables, with no significant difference. Image quality in the parasternal view was slightly reduced in the prone position but remained appropriate (p=0.015). Examinations in the prone position were on average 4.2 min longer (p=0.037). No significant differences were observed between the positions for any quantitative echocardiographic parameters, including chamber dimensions, systolic and diastolic function, cardiac output, and inferior vena cava assessment. Conclusion: Transthoracic echocardiography in the prone position was feasible, with measurements comparable to those in the conventional position in healthy individuals undergoing routine evaluations in a regular echocardiography laboratory. Further studies are required to validate the accuracy and applicability of this method, particularly for patients in intensive care and emergency settings.

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ABSTRACT Objective: This study aimed to evaluate the change in the position of totally implantable venous access devices in patients with mammary hypertrophy compared to patients without this condition, in both supine and upright positions. Methods: This was a prospective study involving 116 female patients who underwent implantation of totally implantable venous access devices in the internal jugular vein with reservoir placement in the infraclavicular region of the chest wall. Patients with mammary hypertrophy were compared to a Control Group of patients with normotrophic breasts. Mammary hypertrophy was defined on the basis of the Sacchini index. The catheter tip was placed at the cavoatrial junction. The distances between the tip of the catheter and carina were compared intraoperatively and postoperatively. Measurements were performed using a radiopaque ruler intraoperatively under fluoroscopy and postoperatively with posteroanterior chest radiography in the upright position. Results: Of the 116 female patients, 53 (46.7%) had mammary hypertrophy, and 63 constituted the Control Group (53.3%). Displacement of the catheter tip in the cranial direction correlated with the previous presence of a peripherally inserted central catheter on the same side as the totally implantable venous access device (p=0.042). In contrast, caudal displacement correlated with non-deforming surgery on the chest wall (p=0.002). Patients with mammary hypertrophy did not show a higher incidence of catheter tip displacement than those with normotrophic breasts (p=0.182). Conclusion: Mammary hypertrophy, assessed using the Sacchini index, did not significantly correlate with catheter tip displacement.

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ABSTRACT Objective: To analyze the correlation between vaccination coverage against meningitis C and epidemiological indicators of morbidity and mortality associated with the disease in Brazilian pediatric populations aged 3 months to 14 years. Methods: This descriptive and exploratory epidemiological study used secondary data from the National Immunization Program Information System (SI-PNI) and Notifiable Diseases Information System (SINAN). The analysis covered the period from 2010 to 2024, and examined the relationship between vaccination coverage and the number of meningitis cases and related deaths. The data included variables such as sex, age group, vaccine dose, incidence, mortality, and geographic distribution. Descriptive statistics, including calculations of proportions and rates, were performed using Microsoft Excel® (2019). Results: Following the introduction of the meningitis C vaccine in the National Immunization Program in 2010, the incidence of the disease in Brazil decreased significantly. From 2010 to 2015, the number of confirmed cases decreased by approximately 81%, reaching the lowest recorded rate in 2021 (0.02 per 100,000 inhabitants), representing a 98% reduction. However, an increase in the incidence was observed in 2022 (0.05 per 100,000 inhabitants). Although vaccination coverage exceeded 95% in 2011, it has declined in subsequent years. Conclusion: The meningitis C vaccination program has had a positive impact on public health, contributing to a marked reduction in disease cases and related deaths since its implementation. Higher vaccination coverage was associated with lower morbidity and mortality rates.

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ABSTRACT Objective To assess the knowledge and performance of high school students in cardiopulmonary resuscitation and foreign body airway obstruction management using an objective structured clinical examination. Methods An interventional design was implemented with high school students, who were assessed before and after the intervention. Participants completed a theoretical questionnaire and two objective structured clinical examinations—one for cardiopulmonary resuscitation and one for foreign body airway obstruction—before receiving theoretical and practical first aid training. Subsequent assessments included the same theoretical questionnaire and objective structured clinical examinations, administered immediately after training and again after six months to measure knowledge retention. Results Comparison of pre-training, immediate post-training, and six-month follow-up data revealed significant improvements in knowledge and performance across all student groups and scenarios (p<0.001), with sustained retention over time. Implications for School Health Policy, Practice, and Equity: Utilizing handmade mannequins alongside the objective structured clinical examination methodology offers a cost-effective approach for training students and mitigating adverse outcomes in high schools. Conclusion The objective structured clinical examination is an effective and evaluative tool for first aid training among high school students.

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ABSTRACT Objective To translate, cross-culturally adapt, and validate the Lung Transplant Quality of Life questionnaire into Brazilian Portuguese. Methods This observational study enrolled 50 participants. Translation and cross-cultural adaptation were conducted in accordance with established guidelines for self-report measures and the Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN). The measurement properties assessed included internal consistency, agreement, intra-rater reliability, and convergent validity. Convergent validity was evaluated by comparing the Lung Transplant Quality of Life with the Short Form Health Survey (SF-36) and the Saint George’s Respiratory Questionnaire. Results The Lung Transplant Quality of Life showed adequate internal consistency (Cronbach’s alpha=0.86) and excellent intra-rater reliability (intraclass correlation coefficient=0.93). Agreement analysis yielded a standard error of measurement of 8.72. Bland-Altman analysis revealed low mean differences (0.8) between Lung Transplant Quality of Life scores and acceptable limits of agreement (95%CI=-16.9–15.3). Spearman’s correlation showed excellent convergent validity with the SF-36 and good validity with the Saint George’s Respiratory Questionnaire in both test and retest phases. Conclusion The Brazilian Portuguese version of the Lung Transplant Quality of Life is a valid and reliable instrument for assessing health-related quality of life in lung transplant patients. Further research is warranted to develop a shorter version while preserving its measurement properties.

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ABSTRACT Background The role of scavenger receptor class B type 1 (SR-B1) in breast cancer remains largely unknown. Objective This study aimed to investigate the effects of SR-B1 on breast cancer cell proliferation, migration, and invasion and to elucidate the underlying mechanisms. Methods Two breast cancer cell lines, MDA-MB-231 and MCF-7, were used in this study. Cells were transfected with SR-B1-specific siRNA (si-SR-B1), whereas cells transfected with scrambled sequences served as controls. Cell proliferation was assessed using CCK-8 and colony formation assays. Cell migration and invasion were evaluated using wound healing and Transwell assays, respectively. Apoptosis was analyzed using flow cytometry. Western blot analysis was performed to examine activation of the PI3K/AKT signaling pathway following SR-B1 knockdown. Results Knockdown of SR-B1 significantly inhibited the proliferation, migration, and invasiveness of MDA-MB-231 and MCF-7 cells (all p<0.05). Moreover, SR-B1 knockdown promoted apoptosis in these cells. Western blot analysis revealed that the phosphorylation levels of AKT and mTOR were markedly decreased in the si-SR-B1 group compared to those in the controls. Additionally, the expression of downstream targets, including cyclin D1 and P70, was downregulated by SR-B1 silencing. Conclusion SR-B1 contributes to the enhanced proliferation and migration of breast cancer cells, likely through activation of the PI3K/AKT signaling pathway.

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ABSTRACT Objective To perform the translation and cross-cultural adaptation into Brazilian Portuguese of the 35 navigation metrics developed by the Academy of Oncology Nurse & Patient Navigators (AONN+). Methods This study employed a methodological approach for cross-cultural adaptation. Following authorization from the authors of the original version of the 35 metrics for evaluating navigation programs, the instrument was translated in accordance with established guidelines. A committee of ten experts was formed to review and reach consensus on the translation. The snowball sampling technique was used to recruit 35 judges, including nurse navigator and oncology nurses, with the aim of assessing the applicability of the metrics to the Brazilian context. The data were collected in the first semester of 2025. Results The expert committee evaluated whether the metrics achieved semantic, idiomatic, experiential, and conceptual equivalence. Three rounds of evaluation were required to reach a 90% agreement rate. In the subsequent pretest, Brazilian oncology nurses and nurse navigators individually assessed each metric for cultural comprehensibility and applicability. The instrument’s mean content validity index was 0.97. Conclusion The 35 metrics were adapted and refined in accordance with the proportions of agreement and content validity index, which reached values consistent with those recommended for adequacy. Therefore, the translation enables the use of standardized navigation metrics to measure program outcomes in Brazil.

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ABSTRACT Objective: To evaluate the national distribution and cost-effectiveness of oncologic microsurgical reconstructions performed within the Brazilian Public Health System over a 14-year period. Methods: A retrospective analysis of DATASUS data was conducted using three procedure codes related to oncologic microsurgical reconstruction. Surgical volume was assessed by state and geographic region. Hospital reimbursement values were compared with those of less complex reconstructive procedures, and inter-state patient referral patterns were analyzed to identify trends in service centralization. Results: Between 2009 and 2023, a total of 1,902 microsurgical reconstructions were performed nationwide. The Southeast and South regions accounted for the majority of cases, with São Paulo (n=563) and Rio Grande do Sul (n=474) representing the highest-volume states. In contrast, the North and Center-West regions exhibited substantially lower availability of microsurgical services. Reimbursement analyses demonstrated that microsurgical procedures were compensated at levels comparable to those of less complex reconstructions, despite their greater technical and infrastructural requirements. Referral flow analyses revealed a pronounced concentration of patients toward a limited number of high-volume centers. Conclusion: Microsurgical reconstruction within the Brazilian Public Health System is cost-effective; however, its availability remains unevenly distributed, restricting equitable access to complex oncologic reconstructive care. Public policies focused on workforce training, capacity-building, and regional decentralization are necessary to expand access and reduce reliance on a small number of specialized centers.

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ABSTRACT Background Precision medicine has transformed cancer management by tailoring treatments to the molecular characteristics of a patient’s tumor. Comprehensive Genomic Profiling enables the simultaneous analysis of multiple genomic alterations using next-generation sequencing assays, providing detailed molecular profiles of tumors. This approach allows more accurate cancer classification, guides decisions regarding targeted therapies, enhances the precision of treatment strategies, and improves patient outcomes in oncology. Objective In this article, we describe the analytical validation of the Illumina TruSight Oncology 500 (TSO500) assay in a (CAP)-certified clinical laboratory in Brazil and present real-world findings from Comprehensive Genomic Profiling performed on 454 patients with cancer, highlighting the genomic landscape, including novel fusion events. Methods Tumor samples collected between January 2020 and September 2023 were subjected to Comprehensive Genomic Profiling using the TSO500 assay. Library preparation and sequencing (Illumina NextSeq) were performed according to the manufacturer’s protocol, followed by bioinformatics processing using an in-house pipeline for alignment, variant calling, and annotation. Variants were classified according to the Variant Interpretation for Cancer Consortium guidelines. Analytical performance metrics, including specificity and positive predictive value, were calculated for assay validation. Results The test demonstrated a specificity of 93.39% and a positive predictive value of 73.36%. Regarding Comprehensive Genomic Profiling, 57.85% of all detected variants were classified as variants of uncertain significance, and 42.15% were oncogenic. Gene fusions, including both novel and canonical events, were detected in 13% of cases. Conclusion The TSO500 assay provides crucial insights into patient genomics, aiding diagnosis, prognosis, and treatment decisions. Demonstrating high levels of accuracy, reproducibility, and sensitivity, the TSO500 advances cancer research to the forefront of molecular technology.

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ABSTRACT Objective To assess the intra- and inter-observer reliability of spinal inflection point localization on lateral radiographs of asymptomatic adults using a standardized measurement protocol, given its important role in sagittal alignment analysis and its potential influence on biomechanical interpretation and surgical planning. Methods This cross-sectional study included 10 adults (five males and five females; age range 32–50 years) without spinal deformities or prior spinal surgery. Lateral and anteroposterior panoramic radiographs were obtained according to the institutional protocol. Three independent orthopedic residents with less than two years of experience assessed the cervicothoracic and thoracolumbar spinal inflection points using Surgimap® software in three separate rounds, conducted at three-week intervals. The spinal inflection point was defined as the vertebral level at which curvature direction changes, according to the method described by Berthonnaud et al. Inter-observer agreement was evaluated using Cohen’s kappa index with 95% confidence intervals, and intra-observer reproducibility was assessed using the intraclass correlation coefficient (ICC). Results The most frequent cervicothoracic spinal inflection point was C7–T1, whereas the most common thoracolumbar spinal inflection point was T12–L1. Inter-observer agreement for the cervicothoracic spinal inflection point ranged from kappa 0.19 (95% confidence interval: –0.15 to 0.55) to 0.41 (0.05–0.75), and intra-observer ICC ranged from 0.29 (0.07–0.54) to 0.56 (0.33–0.74). For the thoracolumbar spinal inflection point, inter-observer kappa ranged from –0.03 (–0.20 to 0.14) to 0.22 (0.01–0.44), whereas ICC ranged from 0.29 (0.08–0.53) to 0.56 (0.35–0.72). Wide confidence intervals suggested low precision, likely related to the small sample size and evaluator experience. Conclusion In this sample, localization of the spinal inflection point by non-specialist evaluators showed low intra- and inter-observer agreement, indicating limited reliability and highlighting the need for standardized protocols or additional training.

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ABSTRACT Objective To compare the volume, public funding, and in-hospital outcomes of vaginal deliveries and cesarean sections within the Brazilian Public Health System (SUS - Sistema Único de Saúde ) across regions and maternal age groups. Methods This retrospective, cross-sectional study presents a population-based analysis of low-risk vaginal and cesarean hospital deliveries within the SUS from 2009 to 2023 using publicly available data from the SUS Hospital Information System. Trends in delivery mode distribution were assessed using the chi-square test, whereas in-hospital mortality rates, length-of-stay, and average public financing were compared between the groups using the Mann-Whitney test. Results Over the study period, vaginal deliveries decreased by 39%, whereas cesarean sections increased by 3%, leading to a rising proportion of cesarean births within the SUS despite an overall decline in total deliveries in Brazil. The cesarean section rate increased from 32.4% in 2009 to 44.6% in 2023, and regional disparities were observed. Despite the SUS promoting vaginal delivery for low-risk pregnancies, cesarean section rates increased across all states except Roraima. In-hospital mortality rates were numerically higher for cesarean sections, particularly among women aged ≥40 years, although statistical significance was not observed. Cesarean sections were also associated with a longer length-of-stay and higher public funding. Conclusion Despite policies favoring vaginal births, rising cesarean section rates in the SUS reveal persistent structural, cultural, and logistical challenges. Higher public funding and longer hospital stays add to the healthcare burden. Strengthening primary care, expanding Normal Birth Centers, and optimizing cesarean section use are crucial for balanced and accessible maternity care across Brazil.

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ABSTRACT Introduction The Brazilian Public Health System predominantly performs cystoscopy in hospitals using rigid cystoscopes in operating room settings. This approach results in high operational costs and scheduling delays associated with hospital admission and preoperative protocols. Flexible cystoscopy can be performed in an outpatient setting and may substantially reduce both costs and waiting times. Objective To compare the costs and waiting times associated with rigid and flexible cystoscopy in São Paulo, Brazil. Methods A retrospective review at a municipal hospital in Brazil identified patients who underwent diagnostic rigid cystoscopy. The analysis estimated the cost of the procedure and the time from indication to examination. Because no public hospital performed flexible cystoscopy during the study period, fees from private hospitals were collected as a proxy and incorporated into a one-way sensitivity analysis. Results The mean cost per rigid cystoscopy reached BRL 8,319.45 (US$1,618.82), ranging from BRL 6,187.10 (US$1,203.90) to BRL 10,512.34 (US$2,045.52). Costs were higher when biopsy occurred (mean BRL 9,744.20) and lower when biopsy was not performed (mean BRL 6,609.75). Fees for flexible cystoscopy ranged from BRL 1,523.81 (US$296.51) to BRL 2,300.00 (US$447.54), with a mean value of BRL 1,800.60 (US$350.37). The mean interval from indication to procedure was 55.64 days for rigid cystoscopy compared with 6.34 days in centers that perform flexible cystoscopy. In sensitivity analysis, even when public-sector flexible cystoscopy costs reached 1.5-3.0× the private fee (BRL 2,701-5,402), the procedure remained approximately 35-68% less expensive than rigid cystoscopy. Conclusion Management of bladder cancer imposes a substantial economic burden on Brazilian Public Health System. Despite the asymmetry between public and private data sources, these findings support adoption of outpatient flexible cystoscopy to accelerate diagnosis and reduce costs, with important implications for health policy.

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ABSTRACT Background Non-invasive respiratory support strategies, such as high-flow nasal cannula therapy and non-invasive ventilation, were widely employed during the coronavirus disease 2019 (COVID-19) pandemic, yet their comparative effectiveness remains uncertain. Objective To compare the effects of high-flow nasal cannula therapy, non-invasive ventilation, and conventional oxygen therapy on intubation rates and hospital mortality in adults with COVID-19-related acute respiratory failure. Methods A systematic review and meta-analysis was conducted following PRISMA and Cochrane guidelines, with searches performed in nine databases for publications up to May 2023. Eligible studies were those on adults (≥18 years) with confirmed severe acute respiratory syndrome coronavirus 2 infection and that included intubation and mortality as primary outcomes. Risk of bias was assessed using the National Institutes of Health Quality Assessment Tool for Observational Cohorts and the Cochrane Risk of Bias tool. Pooled results were reported as odds ratios (ORs) with 95% confidence intervals (95%CIs). Results Forty-one studies were included in the review and ten in the meta-analysis (2,843 patients). High-flow nasal cannula therapy did not differ from non-invasive ventilation in terms of the intubation rate (OR=1.07, 95%CI=0.89-1.29, p=0.45) but was superior to oxygen therapy (OR=0.79, 95%CI=0.64-0.97, p=0.02). High-flow nasal cannula therapy was also associated with lower mortality than non-invasive ventilation (OR=0.62, 95%CI=0.51-0.76, p<0.0001) but did not differ from oxygen therapy (OR=1.06, 95%CI=0.84-1.33, p=0.64). Substantial heterogeneity was observed in the subgroup analyses (I2=64%-90%). Interpretation High-flow nasal cannula therapy may reduce the need for intubation compared with oxygen therapy and may lower the hospital mortality rate compared with non-invasive ventilation. However, heterogeneity in the studies suggests that patient-specific factors and disease severity may influence outcomes. Conclusion High-flow nasal cannula therapy shows potential benefits over oxygen therapy and non-invasive ventilation for COVID-19-related acute respiratory failure, particularly in the mortality rate. Clinical use of these therapies should be context-specific, given the need for cautious interpretation of our results and for further high-quality trials. Prospero database registration: ID CRD 42020226936.

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ABSTRACT Patients diagnosed with fibrosing interstitial lung disease are at risk of several complications, some of which may be life-threatening. Computed tomography imaging plays an important role in diagnosing these overlapping conditions. This article summarizes the computed tomography imaging features of the most common conditions associated with fibrosing interstitial lung diseases, categorized by involvement of the lung parenchyma or extra-pulmonary compartments. Some steps may help to recognize such complications, such as having knowledge of the underlying fibrotic lung disease, being aware of potentially immunosuppressive treatments in use, noting new relevant symptoms, checking previous imaging examinations to detect subtle changes, and considering the exam technique, for example, to avoid false perception of ground-glass opacities in exams with insufficient inspiration. Unenhanced computed tomography may be enough to diagnose most situations, but in specific cases, for example, in the clinical suspicion of pulmonary embolism, dedicated computed tomography angiography may be warranted. Careful comparison with previous exams is advised, especially to detect subtle opacities suspicious for lung cancer, underscoring that its detection may be difficult owing to the baseline morphological lung changes. Radiologists must be aware of such possible complications to perform early diagnosis and ensure proper management.

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ABSTRACT Valvular heart disease is increasingly prevalent, and bedside confirmation or exclusion of severe disease is needed to enable a rapid and cost-effective diagnostic workup. The physical examination skills of clinicians are insufficient for accurate diagnosis, making complementary tests generally necessary. Despite being commonly requested, electrocardiography and chest radiography present low positive and negative likelihood ratios. Incipient studies involving artificial intelligence have shown promising opportunities to support the diagnosis. In addition, solid current evidence demonstrates that point-of-care ultrasound enhances bedside diagnosis of several cardiovascular conditions. Echocardiographic skills can be acquired after only a few hours of training, which encourages routine bedside use with handling equipment. Despite the routine use of sonography in emergencies, large-scale simplified screening protocols for valvular disease remain lacking. Therefore, improving the accuracy of valvular heart disease diagnosis by integrating all bedside modalities needs to be better understood. We propose a simple, reproducible five-step point-of-care ultrasound protocol for diagnosing valvular heart disease (the ValvUS approach), applicable to all patients. The proposed visual assessment involves evaluating valvular movement, thickness, regurgitant flow, aliasing, and chamber dimensions. This evaluation should be interpreted in the context of traditional clinical probability to ensure the most accurate bedside diagnosis. Typical findings of severe valvular disease on electrocardiography and chest radiography, and particularly on point-of-care ultrasound, may improve the accuracy of bedside diagnosis after clinical assessment in the near future.

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ABSTRACT Background Iridoschisis is a rare, bilateral condition of unknown etiology, often associated with trauma or surgery, in which the iris stroma splits into layers. It is usually associated with glaucoma and cataract. Facectomy in these patients is challenging owing to the risk of aspirating the iris fibers and limited pupil dilation. Objective This systematic review aimed to provide a comprehensive analysis of the clinical features, therapeutic interventions, and outcomes in patients with iridoschisis, to clarify optimal practices and identify areas for future research. Methods We described a case of unilateral iridoschisis in a 76-year-old female, diagnosed on imaging examinations without prior ophthalmologic intervention. Preoperative planning for facectomy addressed potential surgical complications. Correct diagnosis facilitated the investigation of glaucomatous optic neuropathy, a common and sight-threatening complication if left untreated. We conducted a systematic search using Medical Subject Headings and Health Science Descriptors combined with Boolean operators. Sources PubMed, Cochrane Library, Web of Science, and Embase were searched with no publication restrictions. Risk of bias The risk of bias was assessed using the Critical Appraisal Checklist for case reports and case series proposed by The Joanna Briggs Institute. Synthesis The reference lists of the retrieved studies were manually checked. A simple descriptive analysis was performed to summarize the results. Results The search retrieved data from 234 studies. In the final analysis, 17 references were included, comprising 15 case reports and two case series. Preoperative and postoperative best-corrected visual acuities improved significantly, with cataract surgery being the most common treatment. Common complications included anterior chamber inflammation, corneal edema, and Descemet folds. Discussion This case and systematic review provide valuable insights into the management of iridoschisis and its comorbidities, underscoring the importance of careful preoperative planning and ongoing research to refine treatment strategies. Prospero database registration: CRD42024549865.

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ABSTRACT The set of somatic mutations present in a human tumor is a record of one or more mutational processes, each of which leaves distinct "signature" of mutation types. Mutation types can be classified in various ways, the most straightforward being the base change induced by a single-base substitution (e.g., C>A, T>G, etc.). The advent of high-throughput DNA sequencing has facilitated the comprehensive, genome-wide assessment of mutation types in human tumors. This has spurred the development of methodology to tease apart the relative contribution of each mutational process by decomposing the set of all mutations into individual signatures. Many mutational signatures have known etiologies. Therefore, mutational signature inference can shed light on the causes of cancer and inform patient treatment. To date, most studies in this area have been performed on solid tumors; consequently, the application of existing methods to hematological cancers has yielded limited results. In this review, we provide an overview of the history and methodology behind mutational signature inference. Here, we present the challenges inherent in its application to hematological cancers and survey the work performed thus far. We highlight how recent research analyzing mutational signatures in normal blood cells can elucidate the beginning of a continuum of mutational processes, from normal hematopoiesis through mature hematological malignancy. Accurate characterization of mutational signatures in cancer development may aid in clinical diagnosis, prognosis, and treatment decisions.

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ABSTRACT Fetal anesthesia plays a critical role in ensuring maternal and fetal safety and optimizing outcomes during fetal surgical interventions. Despite its importance, there is currently no consensus regarding optimal anesthetic strategies for these procedures. This narrative review explores the principal types of fetal surgery, including minimally invasive and fetoscopic procedures, open fetal surgery, and Ex Utero Intrapartum Treatment, with particular emphasis on the factors influencing anesthetic decision-making. A comprehensive literature search was conducted across SciELO, PubMed, and Google Scholar, including articles published in any language up to May 2024. This review aims to highlight current anesthetic techniques and relevant maternal-fetal physiological considerations. Although fetal surgery can be performed safely using different anesthetic modalities, anesthetic management should be individualized according to maternal and fetal conditions, patient preferences, and the expertise of the multidisciplinary team. The lack of standardized guidelines and the limited availability of high-quality evidence underscore the need for further research. Future studies should focus on protocol development, complication management, and the use of adjuvant therapies to enhance maternal and fetal outcomes.

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ABSTRACT This study explores the potential impact of Artificial Intelligence on narrative literature reviews in academic research. The literature review process involves finding, analyzing, and synthesizing relevant literature and is crucial for situating new research within existing knowledge. The integration of Artificial Intelligence tools, specifically Large Language Models such as the Generative Pre-Trained Transformer series, can significantly improve the efficiency and effectiveness of this process. This paper outlines the steps involved in conducting a literature review and examines how Artificial Intelligence tools can aid in identifying research gaps, organizing and analyzing retrieved articles, and writing the review. In the literature review process, we provide examples of both free and commercially available Artificial Intelligence software to demonstrate their potential applications.

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ABSTRACT Objective: This scoping review evaluated the efficacy of topical tranexamic acid powder, prepared from crushed tablets, for bleeding prevention during minor oral surgical procedures. Methods: A comprehensive literature search was conducted in accordance with PRISMA-ScR guidelines across MEDLINE/PubMed, Elsevier, Embase, BVSalud, Web of Science, and Periódicos CAPES. Studies investigating topical tranexamic acid in powder form for minor dental procedures were included. Reviews, in vitro or animal studies, and investigations focusing on systemic, injectable, or mouthwash formulations of tranexamic acid were excluded. Methodological quality was assessed using the Newcastle-Ottawa Scale and Joanna Briggs Institute critical appraisal checklists. Results: Ten studies met the inclusion criteria, including clinical trials, retrospective and prospective studies, case reports, and one letter to the editor. Tranexamic acid powder was applied directly to surgical sites or prepared as a paste or saline suspension, with doses ranging from 250 to 500mg. Most participants were receiving anticoagulant therapy or had underlying bleeding disorders, highlighting the need for effective local hemostatic approaches. All included studies reported successful bleeding control with topical tranexamic acid, frequently combined with additional local hemostatic measures such as sutures or gelatin sponges. Conclusion: Topical tranexamic acid powder shows promise as an adjunctive measure for bleeding control in minor oral surgery, particularly in individuals at increased risk of hemorrhage. However, further studies are needed to clarify the isolated efficacy of tranexamic acid powder in dental bleeding management. Open Science Framework: https://osf.io/n5mbp

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ABSTRACT Background Computational modeling of human circulatory system has evolved significantly in recent decades. Among the various modeling strategies, one-dimensional (1D) models have emerged as alternatives to more complex models because of their balance between physiological accuracy and computational efficiency. Objective This scoping review aimed to summarize and compare the studies on 1D computational models of the entire circulatory system, including those that incorporated additional 0D and 3D components. Methods A systematic search was performed for studies on computational 1D models of the entire arterial tree. Studies were eligible if they employed 1D modeling either exclusively or in combination with 0D and/or 3D components. Article screening, data extraction, and analyses were conducted in accordance with the PRISMA-ScR guidelines. Results Out of the 6,841 records, 19 studies were included. Eleven articles presented strictly 1D nonlinear models, two used linear 1D models, and six employed multiscale frameworks that integrated 1D, 0D, and/or 3D components. Nonlinear 1D models consistently outperformed linear models in simulating large elastic arteries and pathological conditions, whereas linear models were effective in simulating small vessels under low-pressure variations. Multiscale models improve local hemodynamic details, but impose significantly higher computational costs. Conclusion 1D models provide a robust and computationally efficient framework for simulating global cardiovascular hemodynamics. Although nonlinear and multiscale models enhance the physiological fidelity and adaptability to complex scenarios, their higher computational demands should be weighed against the available resources and specific clinical or research goals.

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ABSTRACT Objective: The aim of this meta-analysis was to determine the efficacy and safety of percutaneous irreversible electroporation combined with immunotherapy compared with irreversible electroporation alone in patients with locally advanced pancreatic cancer. Methods: We systematically searched Embase, Cochrane Central Register of Controlled Trials, and PubMed/Medline for relevant studies. The outcomes of interest were progression-free survival, overall survival, carbohydrate antigen 19-9 (CA 19-9) levels, and adverse events. Progression-free survival and overall survival were assessed using pooled hazard ratios (HR), odds ratios (OR) were used for adverse events, and mean differences (MD) for CA 19-9. Results: Four studies involving 310 patients were included in the pooled analysis. Irreversible electroporation combined with immunotherapy significantly prolonged progression-free survival compared with irreversible electroporation alone (hazard ratio [HR], 0.56; 95%CI=0.39 – 0.80; p<0.01; I2=10%). Additionally, patients who received irreversible electroporation plus immunotherapy achieved a greater overall survival compared with irreversible electroporation alone (HR=0.52; 95%CI=0.37 – 0.73; p<0.01; I2=0%). The pooled results for CA 19-9 showed significantly lower levels in patients receiving irreversible electroporation and immunotherapy compared with those receiving irreversible electroporation alone (MD: −70.18U/L; 95%CI=-121.07 – −19.29; p<0.01; I2=98%). No significant difference in the occurrence of adverse events such as nausea and vomiting (OR=1.58; 95%CI=0.71 – 3.49; p=0.26; I2=0%) and gastroparesis (OR=0.88; 95%CI=0.23 – 3.40; p=0.85; I2=0%) was not observed between the groups. Conclusion: Combined therapy using percutaneous irreversible electroporation and systemic immunotherapy offers a safe and effective treatment approach for locally advanced pancreatic cancer, with irreversible electroporation potentially enhancing the efficacy of systemic immunotherapy in combined applications. Prospero database registration: ID CRD42024562216.

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ABSTRACT Background: Hospital malnutrition has been studied for decades; however, its prevalence remains high, and research in this area is still relevant. Nutritional screening and assessment tools are routinely used in hospital settings. Objective: We aimed to describe and discuss the general characteristics of studies that used nutritional screening and assessment instruments in hospitalized adult populations, with a focus on clinical outcomes. Methods: We conducted a systematic review without meta-analysis. Eligible studies were original prospective or retrospective studies published in Portuguese or English, with no inception date, conducted in hospitalized adult populations, and reporting clinical outcomes. Information sources included PubMed, LILACS, Web of Science, Embase, and Scopus. The search covered articles published up to July 2022. Risk of bias was assessed for all included studies using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool. Results presented in the tables were transcribed from the main findings of each evaluated study, and no new statistical analyses were performed. Results: Seventy-seven studies were included, encompassing 20 tools evaluated in hospital settings. The Mini Nutritional Assessment was the most extensively tested in relation to clinical outcomes. Among studies conducted in Brazilian populations, the nutritional assessment tool Subjective Global Assessment and the screening tool Nutritional Risk Screening 2002 were the most frequently studied. Among full-text articles assessed for tool evaluation in hospitals, 77% were excluded because clinical outcomes were not reported. Discussion: The evidence has some limitations. First, the exclusive focus on hospitalized populations may limit generalizability. Second, validation studies that did not evaluate clinical outcomes were not described in detail. Third, the use of "clinical outcomes" as a search term may have led to an underestimation of validation studies focusing solely on diagnostic or screening performance. Overall, nutritional screening and assessment tools commonly used in daily practice have been validated many years ago, largely based on subjective clinical assessments, with relatively few studies reporting clinical outcomes. In addition, most studies were single-center and conducted predominantly in non–Latin American populations. Future research should prioritize multicenter designs, improve population representativeness, and incorporate clinically relevant outcomes. Prospero database registration: ID CRD42022347507.

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ABSTRACT Non-B DNA structures represent alternative conformations to the canonical double helix, characterized by unconventional base pairing that diverge from the Watson-Crick model. Among these, the i-motifs, formed in cytosine-rich regions, has attracted considerable attention due to its potential regulatory roles. This review examines the molecular mechanisms underlying the formation and stability of i-motifs, which rely on hydrogen bonding between protonated cytosines. These structures can form under slightly acidic and even neutral pH conditions, depending on the DNA sequence context. Their diverse topologies and capacity to interact with specific proteins and ligands suggest that i-motifs play important roles in the regulation of gene expression, particularly within promoters of oncogenes, as well as in telomeric and centromeric regions. Understanding the behavior and biological relevance of i-motifs may deepen our insight into genomic regulation and reveal novel therapeutic opportunities. Targeting i-motif structures therefore represents a promising strategy for the treatment of cancer and other complex diseases.

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Abstract Postoperative intestinal obstruction is most commonly associated with adhesions but may also arise from unusual causes such as surgical staples adhering to adjacent structures. Although the use of endoscopic staplers in laparoscopic appendectomy is effective and generally safe, it can occasionally result in complications, including intestinal obstruction. We report the case of a 41-year-old woman who underwent surgical treatment for pelvic endometriosis, including appendectomy, and subsequently developed intestinal obstruction caused by an internal hernia formed by the entrapment of a surgical staple from the appendiceal suture line in the jejunal loop. The patient recovered uneventfully after laparoscopic release and removal of staple, with complete resolution of symptoms. This case underscores the importance of vigilance during staple application and reinforces the need for continued improvements in stapling techniques to prevent similar complications.

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Abstract Breast cancer is one of the most prevalent and heterogeneous cancers worldwide; however, it remains a complex and enigmatic disease. Advances in targeted therapies combined with increasing knowledge about tumor subtypes and molecular profiling have placed precision medicine on the frontier of oncological treatments. The recent classification of certain HER2 tumors as HER2-low, along with emerging evidence from studies using antibody-drug conjugates to target specific tumor profiles, highlights the relevance of this case study. This report describes the treatment of a 72-year-old woman diagnosed with metastatic triple-negative breast cancer, classified as HER2-low with specific HER2 mutations. The patient showed disease progression despite standard treatments, leading to the use of trastuzumab deruxtecan (T-DXd), an antibody-drug conjugate targeting HER2, as a third-line therapy. Her positive response, which surpassed the median progression-free survival rates seen in clinical trials, highlights the potential of precision medicine, where treatment is customized based on genetic and molecular tumor profiles. These new therapeutic options for difficult-to-treat cancer subtypes expand treatment possibilities, ushering in a new era of personalized and precision-driven oncology.

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Abstract We report a case of juvenile paracoccidioidomycosis in a previously healthy patient and aim to raise awareness of its severe and atypical clinical manifestations. A 16-year-old male student, employed in automotive cleaning services, originally from Pará and residing in Embu das Artes, São Paulo, presented with progressive lymphadenopathy, jaundice, and signs of acute liver failure. He was admitted to a tertiary hospital, where imaging and histopathological analyses confirmed the diagnosis of paracoccidioidomycosis by identifying Paracoccidioides spp. on lymph node biopsy using periodic acid-Schiff and Grocott's methenamine silver stains. The patient subsequently developed hepatic dysfunction, ascites, encephalopathy, and acute kidney injury. He progressed to sepsis due to Acinetobacter baumannii infection and required intensive care support, including broad-spectrum antimicrobial treatment, antifungal therapy, vasopressor support, and renal replacement therapy. Despite aggressive management, the patient died from septic shock and multiorgan failure. Histopathological examination confirmed disseminated fungal infection. This case highlights a rare and severe hepatic presentation of juvenile paracoccidioidomycosis and reinforces the importance of including systemic mycoses in the differential diagnosis of acute febrile illnesses accompanied by hepatosplenomegaly and lymphadenopathy in endemic regions.

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ABSTRACT Tuberous sclerosis is a rare and serious genetic disease, classically characterized by epilepsy, mental deficiency, and sebaceous adenomas; however, it may also be associated with the development of multiple tumors in various organs. Pulmonary artery aneurysm has rarely been described in the literature. This article reports a case of tuberous sclerosis in a 3 year old child with a pulmonary artery trunk aneurysm, cardiac rhabdomyomas, and a bicuspid aortic valve, a combination that has been rarely described in the literature, and discusses the importance of early diagnosis, management, and treatment.

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ABSTRACT Harlequin syndrome is a rare condition characterized by facial dysautonomia with anhidrosis, hemifacial blush, and other nonfacial manifestations without conventional treatment. This report presents a case study of the potential treatment of Harlequin syndrome using laser therapy. A single-case AB design was used, allowing for a systematic comparison between the baseline and intervention phases. The baseline phase involved data collection during a period without intervention (control condition), that is before laser therap. As evaluation criteria, a clinical assessment of skin turgor, sweating or anhidrosis, and blushing was conducted. Additionally, photographic records were taken before and after treatment, and the patient satisfaction index was analyzed. The Treatment Satisfaction Questionnaire for Medication was used as a model, with adaptations made for specific patient cases. The intervention phase included laser therapy. The patient was an 18-year old female diagnosed with Harlequin syndrome without associated comorbidities. The patient was instructed not to undergo any treatment other than the laser therapy. After the laser therapy, the patient reported improvement in symptoms and satisfaction with the outcome and the therapy. It was concluded that, despite being a rare syndrome with limited available information, laser therapy is a viable and efficient approach for treating Harlequin syndrome.

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ABSTRACT Laryngeal cartilage is an exceptionally rare site of metastasis, with fewer than 63 cases reported in the literature; prostate, kidney, breast, and lung cancers are the most common primary tumors. In addition to this extreme rarity, most published reports are limited to descriptions of the lesion and radiologic findings, without detailing management strategies or follow-up outcomes. The limited number of studies exploring surgical intervention have primarily described superficial resections or conventional laryngectomies. In this context, this case report describes thyroid cartilage metastasis of clear cell renal cell carcinoma in an asymptomatic patient, treated with an innovative surgical approach based on isolated thyroid cartilage resection, with a nine-year follow-up.

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ABSTRACT A 3.5-year-old female presented with a 10-month history of abdominal pain and distension, accompanied by frequent belching and flatulence. No nausea, vomiting, or nighttime awakening due to pain was reported, and the patient's appetite remained intact. Growth and development were age-appropriate (weight: 16.2kg, height: 106cm). She was born at term without complications and had a normal neonatal screening. No comorbidities typically associated with small intestinal bacterial overgrowth (SIBO)—such as prior intensive care unit admission, immunodeficiency, food intolerance, Helicobacter pylori infection, anatomical abnormalities, prior abdominal surgeries, motility disorders, autoimmune conditions, or hepatic condition—were identified. Initial diagnostic hypotheses included more prevalent gastrointestinal disorders such as lactose intolerance, celiac disease, intestinal parasitosis, chronic constipation, and intestinal malformations (e.g., intestinal malrotation). SIBO was suspected following a thorough reassessment of the clinical history. The diagnosis was confirmed via a hydrogen breath test with lactulose, supported by radiological findings. Following treatment with metronidazole (30 mg/kg/day for 10 days), the patient demonstrated significant clinical resolution of the previously reported symptoms. A follow-up hydrogen breath test revealed no further evidence of bacterial overgrowth in the small intestine.

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ABSTRACT Primary urethral carcinoma is a rare malignancy, particularly in women, that often presents at an advanced stage with nonspecific symptoms. Among the histological subtypes, clear cell adenocarcinoma is exceptionally uncommon, with approximately only 250 cases reported in the English literature, posing diagnostic and management challenges. We report a case of Müllerian-type clear cell adenocarcinoma of the urethra in a 58-year-old woman. Imaging studies excluded gynecological origins, suggesting derivation from a Müllerian duct remnant or metaplasia. Histologically, the tumor displayed the classic features of clear cell carcinoma, which were supported by positive PAX8 and napsin A immunostaining. Primary urethral adenocarcinoma appears to have poor prognosis in women. Current management relies on a multimodal approach that combines surgery, chemotherapy, and radiotherapy and has shown promising outcomes in recent studies. This case highlights the importance of considering clear cell adenocarcinomas in the differential diagnosis of urethral tumors.

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ABSTRACT Lymphatic malformations are benign disorders of the lymphatic system and represent a rare diagnosis in adulthood, particularly when involving the breast. This report describes the case of a 64-year-old patient referred to our service with two suspicious masses located in different areas of right breast. Imaging studies reinforced the suspicion of malignancy, and further investigation was conducted with an ultrasound-guided core needle biopsy, which confirmed the diagnosis of lymphatic malformation. As illustrated in this report, although lymphatic malformation may present with imaging findings, histopathological evaluation is often required to exclude malignancy before complete surgical excision. Therefore, lymphatic malformation should be considered as a potential differential diagnosis in the investigation of breast masses suspicious for breast cancer.

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ABSTRACT We report a case of a highly myopic patient with a single functional eye, previously vitrectomized, and implanted with an anterior chamber phakic intraocular lens (Artisan®), who underwent phacoemulsification with phakic lens explantation and posterior chamber intraocular lens implantation. The case illustrates the surgical challenges and highlights the importance of individualized planning in patients with multiple prior interventions and at high risk of complications.

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ABSTRACT Sulfonamides are widely prescribed in clinical practice. Although rare, these have been shown to trigger an idiosyncratic reaction characterized by an acute myopic shift, likely caused by ciliochoroidal effusion and anterior rotation of the ciliary body, resulting in forward displacement of the iris-lens diaphragm. We report the case of a patient who developed blurred vision and acute myopia on cycloplegic refraction after initiating hydrochlorothiazide. The symptoms resolved completely after discontinuation of the medication. Although most of the literature highlights this reaction in association with topiramate, it is important to note that any sulfonamide can potentially lead to a similar clinical presentation.

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ABSTRACT Myelomeningocele is a severe neural tube defect that significantly affects neurological development. Studies have demonstrated that intrauterine repair leads to better neurological outcomes than postnatal correction, likely due to reduced exposure of the neural tissue to amniotic fluid. Despite its benefits, prenatal surgery is performed in only a limited number of centers worldwide and is associated with both maternal and fetal risks. This case report aims to describe a complication rarely reported in the literature: umbilical cord presentation at hysterotomy during open intrauterine fetal surgery for myelomeningocele repair. A 35-year-old multigravida at 24 weeks of gestation was referred to a tertiary maternal-fetal medicine center for evaluation of a suspected myelomeningocele. Ultrasound examination confirmed open spina bifida at the L5 level (2.6 × 2.4cm) associated with lemon and banana signs and a posterior ventricular diameter of 12mm. After counseling, the patient opted for intrauterine repair. During surgery, the umbilical cord was not identified on ultrasound before hysterotomy; however, it was found crossing the hysterotomy site intraoperatively, requiring careful manipulation to achieve adequate fetal exposure. The surgery proceeded without further complications. At 30 weeks of gestation, preterm delivery was indicated due to chorioamnionitis. The newborn had an Apgar score of 8 and 7 and requiring admission to the neonatal intensive care unit. At 1 year and 7 months of age, the child demonstrates good motor development without the need for postnatal surgical interventions. The umbilical cord malpositioning observed during fetal surgery is a rarely described complication in the literature that may compromise fetal circulation; therefore, careful intraoperative handling is essential to prevent adverse outcomes. This case report highlights a rare intraoperative complication of fetal myelomeningocele repair. Appropriate surgical management ensured a favorable outcome, underscoring the importance of awareness and preparedness in managing such events.