Instituto Cardiovascular de Rosario

Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic encephalopathy caused by pathogenic SLC2A1 variants. Ketogenic dietary therapy (KDT) is the mainstay of treatment. In Latin America, Glut1DS remains underdiagnosed due to limited awareness and restricted access to genetic testing. This study describes the clinical and genetic features, management, and response to KDT in an Argentine cohort. A retrospective multicenter study was conducted including patients with a clinical and/or genetic diagnosis of Glut1DS. Clinical data, seizure types, neurodevelopmental features, treatment response, and KDT characteristics were collected from medical records using a standardized form. Genetic confirmation was obtained by SLC2A1 sequencing. Descriptive and comparative analyses were performed. Thirty-nine patients with Glut1DS (64% males) were included. Mean age at evaluation was 13.7 years. Median ages at symptom onset and diagnosis were 6 and 55 months, respectively, with a median diagnostic delay of 49 months. Cognitive impairment was present in two-thirds of patients, and movement disorders in 79%. Epilepsy occurred in 74%. Of 39 patients, all but one received KDT, with MCT oil in 64%. Thirty patients remained on KDT, achieving seizure freedom in 86% and >50% reduction in four others. Improvements were reported in motor coordination (38%), cognition and attention (10%), energy (10%), and behavior (8%). No major adverse effects were reported. This first national report underscores the clinical diversity of Glut1DS in Argentina and a positive trend toward earlier KDT initiation. Strengthening early diagnosis, systematic follow-up, and equitable access to therapy remains essential.

IntroductionIn patients with aortic stenosis and planned aortic valve replacement, an accurate stratification of surgical risk is mandatory to offer the best individual option. Preoperative risk scores have recovered a leading role in the assessment of these patients.ObjectivesThe aim of this study was to perform a prospective, multicentric validation of the ArgenSCORE and compare its performance with the EuroSCORE I and the EuroSCORE II. MethodsA total of 250 adult patients undergoing aortic valve replacement at four centers of the City of Buenos Aires were included in the study from February 2008 to December 2012. The ArgenSCORE was compared with the EuroSCORE I and the EuroSCORE II, evaluating model discrimination with the area under the ROC curve and calibration comparing the relation between observed mortality and predicted mortality. ResultsThe mean age of the validation population (n = 250) was 68.62 ± 13.3 years and overall mortality of 3.6%. The ArgenSCORE showed good discrimination power (area under the ROC curve of 0.82) and a good predictive capacity to allocate risk (relation between observed mortality: 3.6% vs. predicted mortality: 3.39%; p = 0.471). The EuroSCORE I showed poor discrimination power (area under the ROC curve of 0.62) and risk overestimation (relation between observed mortality: 3.6% vs. predicted mortality: 5.58%; p < 0.0001). The EuroSCORE II showed an acceptable discrimination power (area under the ROC curve of 0.76), though lower than that of the ArgenSCORE, but a significant underestimation of predicted risk (relation between observed mortality: 3.6% vs. predicted mortality:1.64%; p < 0.0001).ConclusionsThe ArgenSCORE evidenced adequate ability to predict mortality in patients undergoing AVR surgery. This local model demonstrated good discrimination power and better calibration compared to the European models, as the EuroSCORE I overestimated and the EuroSCORE II underestimated predicted risk.

Seminal plasma proteins play key roles in maintaining the survival and functional integrity of spermatozoa after ejaculation. Semenogelin-1 (SEMG1) is the predominant protein in the seminal plasma and a major structural component of the semen coagulum in humans and mice. SEMG1 binds EPPIN (Epididymal protease inhibitor) on the sperm surface, transiently inhibiting the acquisition of sperm motility and hyperactivation after ejaculation. Nevertheless, the molecular mechanisms underlying SEMG1-mediated inhibition of sperm hyperactivation remain unclear. We hypothesize that the SEMG1 effects are associated with the inhibition of CatSper, a sperm-specific calcium channel crucial for triggering hyperactivation. We observed that recombinant mouse SEMG1 (mSEMG1) inhibited both progressive motility and hyperactivation in a concentration-dependent manner. Notably, hyperactivation was not recovered upon NH4Cl-induced alkalinization, suggesting that the effects of mSEMG1 are downstream of capacitation-associated intracellular alkalinization. Electrophysiological recordings revealed that mSEMG1 impaired CatSper currents at concentrations near its IC50 for inhibiting sperm hyperactivation. Recombinant mSEMG1 truncations mSEMG1Q32-V118 and mSEMG1R98-G375, but not mSEMG1Y221-G375, independently inhibited sperm hyperactivation and CatSper currents similar to full-length mSEMG1. However, only mSEMG1R98-G375 displayed similar EPPIN-binding capacity comparable to full-length mSEMG1, whereas mSEMG1Q32-V118 and mSEMG1Y221-G375 showed only minor binding. Our findings reveal that mouse SEMG1 comprises two distinct functional domains within the Q32-V118 and R98-S220 sequences, which contribute to the inhibition of sperm hyperactivation by targeting the CatSper channel, both independently and dependent on EPPIN binding. These functional domains represent promising prototypes for the design of spermiostatic molecules, offering additional avenues for non-hormonal male contraception targeting spermatozoa.

Introduction: The Allurion® gastric balloon (AGB) is an innovative option for treating overweight individuals and those with grade I obesity, or as a bridging treatment for bariatric surgery, or for patients who do not desire surgical intervention. This study aimed to evaluate the efficacy and safety of the AGB in a multicentric cohort. Materials and Methods: A retrospective analysis of consecutive cases treated with AGB (≥18 years old with body mass index [BMI] ≥27) was performed in eight centers in three countries in Latin America (Argentina, Chile, and Perú), between September 2021 and September 2022, with a 12-month follow-up. Results: In total, 402 patients were included (median BMI of 32.81 kg/m2). Mean total weight loss percentage was 8.3%, 11.6%, and 14.9% at 3, 6, and 12 months, respectively, with a follow-up of 93.03%, 75.37%, and 40.54%. The adverse event rate was 1.24% (n = 5). During the first 7 days, 34.58% (n = 139) experienced concomitant symptoms, and 1.99% (n = 8) asked for endoscopic balloon extraction because of intolerance. The complication rate was 6.46% (n = 26). Readmission index was 4.97% (n = 20), and reintervention was 2.23% (n = 9). Balloon elimination was experienced by 5.7% of patients in the first 14 days, 29.10% (n = 117) before the third month, and 62.68% (n = 252) after the 16th week. Early deflation rate was 2.73% (n = 11). Digestive track elimination was perceived by 26.61%. Conclusions: AGB is a safe and effective option for the treatment of overweight and obesity in Latin America. Lifestyle changes and continuous support with a multidisciplinary team are essential to achieving good mid- to long-term outcomes.

En las últimas décadas surgió bastante evidencia de calidad en el tratamiento de la hipertensión arterial (HTA) en el ámbito ambulatorio, pero no así en el contexto de la guardia médica. Es muy frecuente la atención de pacientes con HTA en los servicios de emergencia (SE) y su manejo sigue siendo motivo de incertidumbre a la hora de actuar. Es importante que el médico de guardia esté consciente que lo que tiene que tratar es un cuadro clínico, no una cifra y que muchas veces “menos es más”, ya que el tratamiento sin justificación clínica conlleva a iatrogenia.

BackgroundFlow-diverter stents (FDS) have become the standard of care for a wide range of intracranial aneurysms, but their efficacy/safety in the context of recurrent/recanalized aneurysms following stent-assisted coiling (SAC) is not well established. We evaluate the outcomes of FDS retreatment in a large multicenter cohort.MethodsWe retrospectively analyzed data from 118 patients across 22 institutions who underwent FDS retreatment for recurrent/persistent aneurysms after SAC (2008–22). The primary outcome was angiographic occlusion status at last follow-up, categorized as complete (100%), near-complete (90–99%), or incomplete (<90%) occlusion. Secondary outcomes included procedural complications and clinical outcomes measured by the modified Rankin Scale (mRS).ResultsA total of 118 patients (median age 57, 74.6% female) with median follow-up of 15.3 months were identified. Complete occlusion was achieved in 62.5% and near-complete occlusion in 25%. FDS deployment within the pre-existing stent was successful in 98.3% of cases. Major complications occurred in 3.4% of cases, including postoperative aneurysmal rupture with resultant mortality (1.6%) and thromboembolic events with long-term disability (1.6%). Favorable clinical outcomes (mRS 0–2) were observed in 95.1% of patients. Wider aneurysm neck diameter was a significant predictor of incomplete occlusion (adjusted OR (aOR) 1.23 per mm, P=0.044), with male sex trending towards association with non-occlusion (aOR 3.2, P=0.07), while baseline hypertension was associated with complete occlusion (aOR 0.32, P=0.048).ConclusionsFDS treatment for recurrent/residual aneurysms after SAC represents a viable treatment option for these challenging cases with acceptable safety and reasonable occlusion rates, although lower than de novo FDS occlusion rates.

Acute heart failure (AHF) impacts millions globally, with outcomes varying based on socio-economic status (SES). SES measured by annual household income, years of education and medical insurance coverage. Each patient's income and education level relative to the median or mean, respectively, in the country was calculated, and categorized into tertiles (0, 1 or 2 from lowest to highest). SES scores (0-5) were computed as the sum of these levels plus insurance coverage (0=no or 1=yes). Patients' baseline characteristics, outcomes (HF readmission, death and their composite) and the effect of high-intensity care (HIC) vs. usual care (UC) were examined by SES scores 0-2, 3 and 4-5. Lower SES patients, who were younger, predominantly female, Black and non-European, had fewer comorbidities such as atrial fibrillation, diabetes and ischaemic heart disease and exhibited milder HF, indicated by a lower NYHA class, lower creatinine and higher cholesterol before discharge. Despite having milder HF and less comorbidities, after adjusting for baseline characteristics, patients with higher SES had numerically better outcomes, though differences were not statistically significant. 180-day hazard ratios (HRs) for HF readmission or death were 0.75 (95% CI 0.48-1.16) for SES scores of 3 and 0.85 (95% CI 0.58-1.23) for scores of 4-5, compared to 0-2. Higher SES patients had numerically better treatment effect from HIC, with HRs of 0.69 for SES 0-2, 0.72 for SES 3 and 0.50 for SES 4-5. In this post hoc analysis of the STRONG-HF study, lower SES was associated with milder acute HF but similar 180-day outcomes. Higher SES patients benefitted more from HIC.