IntroductionThe anesthetic management of patients with von Willebrand disease (VWD) present a significant perioperative challenge due to the high risk of hemorrhage. This risk is further elevated in neurosurgical procedures, such as transsphenoidal surgery (TSS) for pituitary neuroendocrine tumors (PitNETs), due to the close proximity to critical neurovascular structures.Case presentationThis report describes a 42-year-old male with type 2 VWD and hypothyroidism, diagnosed with a Knosp grade 3A PitNET, who underwent an endoscopic endonasal transsphenoidal resection. A multidisciplinary approach was implemented, including hemodynamic monitoring and targeted replacement of VWF/FVIII concentrate calculated according to plasma levels, maintaining paremeters of VWF ristocetin cofactor/activity (VWF:RCo) (%) and FVIII (%): >80% during the intraoperative period and >50% during the postoperative period. The postoperative course was favorable, with no neurovascular, hemostatic, hemodynamic, or endocrine complications.DiscussionThe coexistence of VWD and a macro-PitNET creates a profound clinical dilemma that exposes the limitations of conventional perioperative care. While TSS demands strict hemostatic control due to its proximity to major neurovascular structures like the cavernous sinuses and internal carotid arteries, the type 2 VWD directly threatens clot stability and initial platelet plug formation. Given the scarce literature surrounding its neuroanesthetic management, this case report discusses the successful implementation of an individualized strategy. By integrating targeted plasma-derived VWF/FVIII replacement with real-time thromboelastography (TEG) and advanced hemodynamic monitoring, we demonstrate how a coordinated multidisciplinary approach can successfully mitigate overlapping hemorrhagic and neurosurgical risks.ConclusionsThis case highlights the importance of individualized planning and comprehensive management based on the American Society of Hematology (ASH), International Society on Thrombosis and Haemostasis (ISTH), National Hemophilia Foundation (NHF), and World Federation of Hemophilia (WFH) (ASH–ISTH–NHF–WFH, 2021) guidelines to optimize outcomes in patients with VWD undergoing high-complexity surgery.
Chronic granulomatous disease (CGD) is an inborn error of immunity of caused by pathogenic variants of genes encoding components of the phagocyte NADPH oxidase complex, resulting in defective reactive oxygen species production and impaired microbial killing. We conducted a multicenter evaluation of 39 Colombian patients with CGD from 32 unrelated kindreds, describing their clinical, microbiological, and genetic characteristics. Genetic analyses were performed for 31/39 patients and identified variants of the following genes: CYBB (n = 22), CYBA (n = 3), NCF1 (n = 1), NCF2 (n = 1), and NCF4 (n = 4). All but three of the patients had symptoms, the exceptions being individuals with p40phox deficiency. BCG-related complications occurred in eight patients, pulmonary tuberculosis in four, and Salmonella spp. bacteremia in 12 of 17 patients with Salmonella infections. Colombian patients with CGD had clinical and microbiological profiles similar to those reported across Latin America. The genetic findings broaden the regional variant spectrum and emphasize the need for earlier diagnosis and better access to specialist testing.
Se presenta el caso de una paciente de 57 años, con antecedentes de diabetes mellitus tipo 2, hipertensión arterial y falla cardiaca, quien consultó por dolor epigástrico y síntomas gastrointestinales asociados. Los laboratorios documentaron alteración de transaminasas y bilirrubinas, y la ecografía colelitiasis, colecistitis y un riesgo intermedio de coledocolitiasis. Se realizó una tomografía computarizada (TC) (Figura 1) y una colangiopancreatografía por resonancia magnética nuclear (CRMN) (Figura 2) que descartaron coledocolitiasis, pero mostraron imágenes sugestivas de pancreatolitiasis versus pancreatitis crónica (PC). Se decidió realizar una ultrasonografía endoscópica (USE) biliopancreática (Figura 3), la cual descartó la presencia de un cálculo intraductal pancreático y confirmó la existencia de una pancreatitis crónica con criterios de Rosemont mayores y menores 1. Gracias a esto, no fueron necesarios procedimientos endoscópicos invasivos, sólo el manejo de la colelitiasis complicada y la patología diagnosticada.
Background: MicroRNA (miRNA) dysregulation plays a major role in glioblastoma (GBM) biology, but clinical implications are still incompletely defined. We conducted an exploratory miRNA profiling study of GBM in a Colombian cohort, associating molecular information with clinical characteristics. Methods: We retrospectively analyzed all adult patients treated surgically between 2015 and 2023 in two different institutions. Tumor samples were sequenced for small RNA. Associations with age, Ki67, and clinical variables were analyzed by differential miRNA expression analyses. Pathway enrichment using curated miRNA annotation databases was performed. Survival outcomes were evaluated using univariate Cox models. Results: 29 GBMs were included (23 histology grade 4; 6 molecularly reclassified grade 2–3). Increasing age correlated with downregulation of hsa-miR-17-5p and hsa-miR-92a-3p, while tumors with Ki67 ≥ 20% showed upregulation of hsa-miR-17-5p and hsa-miR-20a-5p, implicating the oncogenic miR-17-92 cluster in age- and proliferation-associated regulation. In the full cohort, only hsa-miR-31-5p had a significant correlation with overall survival. Pathway analyses revealed enrichment of miRNAs annotated to signaling pathways implicated in GBM biology. Conclusions: We identified age- and proliferation-associated miRNA patterns centered on the miR-17-92 cluster. The opposing regulation of this cluster with age (downregulation) versus high proliferative activity (upregulation), coupled with its lack of survival association, indicates that these patterns reflect underlying tumor biological heterogeneity rather than serving as prognostic biomarkers. These findings should be considered hypothesis-generating. Larger studies integrating molecular and surgical variables are necessary to establish the clinical utility of miRNA profiling in GBM
Contexto: el carcinoma diferenciado de tiroides yodorefractario (CDT-YR) está asociado con mayor recurrencia, enfermedad metastásica y mortalidad. Sorafenib y lenvatinib están aprobados en CDT-YR para el tratamiento de enfermedad localmente irresecable y/o en enfermedad metastásica en progresión, teniendo en cuenta el impacto positivo en la supervivencia libre de progresión (SLP) y el control de la enfermedad. Sin embargo, un porcentaje de pacientes presentan resistencia frente al uso de esta terapia. Objetivo: identificar los mecanismos moleculares de resistencia descritos al utilizar estos inhibidores de tirosina quinasa (ITKs) en CDT-YR. Metodología: se realizó una búsqueda que incluyó cualquier tipo de estudio publicado en inglés o español en los últimos 15 años. La estrategia PICO para la búsqueda fue: thyroid cancer OR thyroid carcinoma OR thyroid neoplasms AND sorafenib OR lenvatinib AND resistance OR non response OR failure therapeutic. No presenta implicaciones éticas. Resultados: se identificaron tres estudios con reportes de resistencia a sorafenib y uno a lenvatinib en (CDT-YR. Conclusiones: los mecanismos de resistencia identificados fueron: disminución de miR-124/506, aumento de TSP-1 y TFG? inducida por pericitos tumorales, mutación en los genes KRAS y TERT.
