Highlights ■ Family identified with recurrent colorectal cancer, suggestive of Lynch syndrome. ■ A new variant was detected, NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9). ■ The variant causes a frameshift mutation leading to a premature stop codon, suggesting pathogenicity. ■ Using bioinformatics tools, we investigated possible escape mechanisms, such as the presence of isoforms without the mutated exon. ■ Location of the variant suggests that it causes non-sense mediated decay, which is reinforced by immunohistochemistry findings showing absence of MSH2 protein expression. ■ Detailed […]

Highlights ■ In Peru, 5.2% of the population has a disability, and among them, 59.2% have physical limitations. ■ People with disabilities face physical/communication healthcare access barriers. ■ Barriers can affect satisfaction with care received and facility infrastructure. 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 […]

Highlights ■ The rs2814778 C allele is linked to severe/critical COVID-19. ■ The association is independent of major clinical risk factors. ■ The Duffy “null” phenotype may promote lung inflammation. ■ rs12075 and rs4073 showed no association with COVID-19 severity. 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 […]

Highlights ■ The sample included 555 patients from three hospitals (both public and private), representing diverse care settings. ■ Physician and software predictions showed moderate correlation with observed intensive care unit length of stay,  highlighting limitations in absolute prediction accuracy. ■ Categorizing length of stay into time periods (<2, 2-5, >5 days) improved prediction accuracy to approximately 60% for both physicians and Epimed Monitor Performance®. ■ Epimed Monitor Performance® identified patients at risk of prolonged intensive care unit stay with […]

Highlights ■ Patients gave informed consent to share GPS history from their smartphones. ■ Anonymized GPS data revealed stay points and malaria infection hotspots in Manaus. ■ Hotspots guided health agents to mosquito breeding sites,  aiding malaria control. ABSTRACT Objective: To leverage passively collected retrospective smartphone location data to accurately identify malaria transmission hotspots through the development of a novel tool, the Sickness Positioning System. Methods: We collected anonymized location history data from over 200 malaria-infected individuals using Google Takeout. […]

Highlights ■ Typical perifissural nodules remain radiologically stable with no metastatic potential. ■ Only two nodules progressed to metastasis (one atypical perifissural nodule and one non-perifissural nodule). ■ Atypical and non-perifissural nodules require closer follow-up. ■ Annual growth rate was a strong marker of malignancy. ABSTRACT Objective: To evaluate whether pulmonary nodules adjacent to fissures, particularly perifissural nodules detected on chest computed tomography in patients with hepatocellular carcinoma, can be reliably classified as benign based on their radiological characteristics. Methods: […]

Highlights ■ Telerehabilitation included breathing exercises and health education. ■ Health education alone was applied in the Control Group. ■ Remote sessions were conducted at home via videoconference for 8 weeks. ■ Breathing exercises improved functional capacity in patients with chronic obstructive pulmonary disease. ABSTRACT Objective: This study aimed to analyze the effects of two proposed telerehabilitation interventions on the functional capacity of patients with chronic obstructive pulmonary disease. Methods: A randomized clinical trial was conducted with 60 patients of […]

Highlights ■ The exercise program reduced the WOMAC score by 50%, VAS score by 53%, and improved isokinetic strength. ■ There were no significant changes in levels of serum COMP, MMPs, or pro-inflammatory cytokines. ■ Biomarker levels did not correlate with clinical improvement outcomes. ■ This exercise program is feasible for knee osteoarthritis management in primary care. ABSTRACT Objective: To evaluate a simplified exercise program for patients with knee osteoarthritis in terms of pain, functionality, muscle strength, and quality of […]

Highlights ■ Observer experience improves radiographic measurement reliability. ■ Spine surgeons and radiologists exhibited the highest intra-class correlation coefficients. ■ The cervical sagittal vertical axis showed the greatest inter-observer variability. ■ Standardized training may enhance measurement consistency. ABSTRACT Objective: To assess the intra- and inter-observer reliabilities of cervical sagittal radiographic measurements performed by evaluators with varying levels of clinical experience. Methods: This study analyzed lateral cervical radiographs from 14 patients who had undergone single-level anterior cervical discectomy and fusion. Four […]

Highlights ■ The artificial intelligence tool demonstrated high sensitivity (92.5%) and a negative predictive value of 97.8%. This effectively excluded examinations that were not clinically significant. ■ However, its low specificity (78.5%) and positive predictive value (50%) emphasize the importance of radiologist’s supervision. ■ – artificial intelligence missed 4.7% of nodules measuring >6mm, most of which were subsolid (62%). ■ The tool has the potential to improve workflows in lung cancer screening programs. ABSTRACT Objective: We aimed to investigate the […]