Clinica Santa Maria

Ozone (O3) is an oxidizing natural gas widely applied as adjunctive therapeutic treatment for a variety of pathological conditions. Currently, O3-based therapies rely on the low-dose concept i.e., the administration of low O3 concentrations able to induce a mild oxidative stress stimulating antioxidant and anti-inflammatory response without causing cell damage. In addition, low O3concentrations are thought to activate cellular and molecular mechanisms responsible for analgesic and regenerative effects. Due to these properties, in the last decade interest has arisen in the fields of orthopedics and regenerative medicine on the potential of O3 to counteract joint diseases involving cartilage degeneration. In this pilot study, we have explored the anti-degenerative potential of O3 on knee articular cartilage explanted from a healthy adult rabbit and maintained in vitro. Light and transmission electron microscopy were used to monitor chondrocyte and extracellular matrix features of cartilage samples undergoing O3 treatment every three days for two weeks. Results demonstrated that low O3 concentrations act on chondrocytes and the molecular components of the extracellular matrix of articular cartilage explants, significantly improving their preservation under in vitro conditions, likely by promoting both protective and pro-regenerative pathways. This opens promising perspectives for further investigations on the therapeutic potential of O3 for the treatment of cartilage degeneration not only as painkilling and anti-inflammatory agent but also as a cartilage regenerative agent.

Pediatric hematopoietic stem cell transplantation (HSCT) is a life-saving therapy for malignant and non-malignant hematologic diseases. However, access to this high-complexity treatment remains limited and uneven across the Andean subregion. This study aimed to evaluate the current status, capacity, and equity of pediatric HSCT programs in six Andean countries (Bolivia, Chile, Colombia, Ecuador, Peru, and Venezuela) within the framework of WHO Global Initiative of Childhood Cancer. A mixed-methods, cross-sectional situational assessment was conducted between November 2024 and January 2025 under the coordination of the Andean Health Organization (ORAS-CONHU) and the Pan American Health Organization (PAHO). Standardized national and center-level surveys (34 and 150 items, respectively) were applied to Ministries of Health and HSCT centers to collect data on infrastructure, workforce, financing, quality management, and barriers to access. Quantitative data were analyzed descriptively and validated by national committees, complemented by qualitative interviews with key stakeholders. Twenty-seven HSCT centers were identified across the subregion, revealing major disparities in access and capacity. Chile reached 100% coverage of estimated transplant needs, whereas Colombia, Peru, and Venezuela achieved 80%, 29%, and 42.5%, respectively. Bolivia and Ecuador had the lowest coverage (1.6% and 24%). Only 28% of units were pediatric-exclusive, and less than two-thirds met full quality and training standards. High-cost medicines, limited infrastructure, and shortages of specialized personnel were identified as critical barriers, whereas regional collaboration and national policies emerged as key facilitators. The study highlights significant inequities in pediatric HSCT access and capacity across the Andean subregion. Strengthening infrastructure, workforce training, financing mechanisms, and data systems, supported by sustained regional cooperation, is essential to achieve equitable, high-quality transplant care for all children.

Pediatric traumatic brain injury (TBI) accounts for a significant proportion of emergency department (ED) visits, with an estimated global incidence of up to 200 cases per 100,000 children each year. Despite clinical guidelines, imaging is often overused, particularly in mild cases, exposing children to unnecessary radiation. In Latin America, evidence regarding the appropriateness of imaging requests (AIR) and their diagnostic value remains scarce. To assess the association between the AIR and final radiologic findings in traumatic brain injury, and to explore predictors through multivariable analysis. This retrospective, multicentric, cross-sectional study included 719 neuroimaging studies (CT and skull radiography -SR-) performed in 2023 at two high-complexity private hospitals in Santiago, Chile. AIR was classified using the ACR Appropriateness Criteria® and the PECARN algorithm. Confirmatory findings included hemorrhages, skull fractures, and other traumatic lesions. Exploratory multivariable models were applied to evaluate factors associated with final diagnosis. Only 2.9% of imaging requests were deemed appropriate. Among CTs (n = 317), the adjusted probability of a confirmatory result was 48.0% (95% CI: 26.3-69.8) for appropriate requests versus 7.0% (95% CI: 4.1-9.9) for inappropriate ones, an absolute difference of 41 percentage points (p < 0.01). Inappropriate requests were associated with a 13-fold lower relative probability of identifying clinically relevant findings. All SRs were considered inappropriate and had a diagnostic yield of only 1%. A significant gap exists between clinical practice and guideline-based imaging for pediatric TBI in Chile. Reinforcing validated decision tools may help optimize imaging use and minimize unnecessary radiation exposure.

BackgroundPrimary cardiac sarcomas are rare and aggressive tumors that often present with nonspecific symptoms, typically diagnosed at advanced stages. Obstruction of the left ventricular outflow tract (LVOT) due to these tumors is an exceptionally rare and life‐threatening complication.Case PresentationWe describe the case of a previously healthy 33‐year‐old male who presented with progressive exertional dyspnea, orthopnea, and hemoptysis. Upon admission, he quickly developed hemodynamic instability and respiratory failure. Point‐of‐care transthoracic echocardiography revealed a large intracardiac mass causing dynamic LVOT obstruction. During intubation, the patient experienced cardiac arrest, necessitating advanced cardiopulmonary resuscitation. Urgent surgical intervention confirmed the presence of an infiltrative cardiac sarcoma with positive margins. The postoperative recovery was favorable, enabling extubation and withdrawal of vasoactive agents within 24 h.DiscussionCardiac sarcomas often mimic other cardiovascular conditions, complicating early diagnosis. Imaging techniques such as echocardiography and cardiac MRI are essential for detection and characterization. The prognosis for patients with cardiac sarcomas remains poor due to the tumors′ infiltrative nature and high rates of recurrence; however, complete surgical resection is the cornerstone of treatment.ConclusionThis case underscores the necessity for clinical vigilance in patients presenting with unexplained cardiopulmonary symptoms. The early application of bedside echocardiography facilitated prompt diagnosis and timely surgical intervention, proving life‐saving in this instance of obstructive shock due to a primary cardiac sarcoma.

Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson’s disease (PD). Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1, can contribute to atypical or familial forms of PD, we investigated whether FGF14 expansions might play a similar role. Using long-read whole-genome sequencing on 411 individuals with PD and 197 neurologically healthy controls from the PPMI cohort, alongside 1,429 additional controls from the NIH CARD initiative, the 1000 Genomes Project, and the All of Us program, representing globally diverse populations. We identified pathogenic FGF14 GAA repeat expansions in five individuals with PD and one control. All five individuals fit the clinical criteria of PD and showed typical patterns of neurodegeneration on DaTSCAN imaging; α-synuclein aggregation was confirmed by a positive seeding assay among four individuals with available data. These findings broaden the phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare, previously unrecognized genetic contributor to PD. To our knowledge, this is the first report implicating FGF14 in PD and underscores the utility of long-read sequencing for detecting hidden forms of pathogenic variation in unresolved cases.