Centro Hospitalario Pereira Rossell

Introduction CD40 ligand (CD40L) deficiency is a rare X-linked primary immunodeficiency. Hematopoietic stem cell transplant (HSCT) is currently the only curative treatment. To date, regional studies have focused on reporting the clinical characteristics of this disease rather than transplant outcomes. This study aims to characterize pediatric patients with CD40L deficiency who have undergone HSCT in centers from Chile, Colombia, Brazil, Mexico, and Argentina. Objectives include describing clinical features, evaluating survival, identifying mortality-associated factors, and reporting major posttransplant complications. Methods We retrospectively reviewed pediatric patients with CD40L deficiency who underwent HSCT between January 2002 and December 2024. We analyzed clinical characteristics, survival outcomes, and complications. Descriptive statistics were used, and overall survival was estimated using Kaplan–Meier analysis. During this period, 27 patients with CD40L deficiency were included in the study. For one patient, data from a second HSCT were also collected. Results Twenty-seven pediatric patients with CD40L deficiency underwent HSCT, with a median age at transplant of 6 years (range 1–18). A confirmed genetic diagnosis was present in 96% of cases, and 12 patients (44%) had a positive family history. Pretransplant complications included pneumonia in 14 patients (52%), gastrointestinal symptoms in 15 patients (56%), neutropenia (26%), and cholangitis (11%). Infectious history included Pneumocystis jirovecii (22%), CMV (7%), Cryptosporidium (15%), and Candida (26%). Intravenous immunoglobulin (IVIG) supplementation was administered before transplant in 96% of patients, and 67% continued IVIG posttransplant. Cotrimoxazole prophylaxis was given prior to HSCT in 93% of cases. Unrelated donors were used in 70% of patients, and most received conditioning with treosulfan/busulfan plus fludarabine. Graft versus host disease (GVHD) prophylaxis included antithymocyte globulin (ATG) in 59% of patients and calcineurin inhibitors in 96%. Engraftment was achieved in 93% of patients, and 3 required a second transplant. Acute GVHD grade III–IV occurred in 30%, and chronic GVHD in 26%. CMV occurred in 10 patients, with one fatal case. A total of four deaths were reported—three were HSCT-related. Overall survival was 83.6% at 1 year, 78.7% at 3 years, and 78.7% at 5 years. Conclusions This multicenter retrospective study analyzed pediatric patients with CD40L deficiency who underwent HSCT. The cohort showed favorable 5-year overall survival. A genetic diagnosis was confirmed in 96% of patients, while one-third had a positive family history. Most patients experienced significant complications prior to transplant, and HSCT was delayed by a median of 5.5 years. Prophylaxis included IVIG in 96% of cases and cotrimoxazole in 93%. Most transplants used matched unrelated donors (MUD), with busulfan/fludarabine-based conditioning regimens. Conditioning approaches varied by center. Serotherapy (mainly ATG) was used in 70% of patients. Engraftment was successful in 93% of cases. Posttransplant complications were frequent. Acute GVHD occurred in 30% of patients, mostly in severe forms (grade III–IV), while 26% developed chronic GVHD. CMV reactivation was reported in 44%, and graft-related complications (“graft problems”), including secondary graft failure and mixed chimerism, were observed in 26% of cases.

ABSTRACTEvidence for the use of prophylactic anti‐seizure medication (ASM) in traumatic brain injury (TBI) in reducing the occurrence of early post‐traumatic seizure (EPTS) remains equivocal. This study aimed to analyze the prevalence of EPTS in children with TBI, compare clinical characteristics of those with and without EPTS, and explore the association between prophylactic ASM and EPTS. We performed an observational study among 28 pediatric intensive care units in 15 countries from January 2014 to October 2022. The rate of EPTS was compared between individuals prescribed prophylactic ASM and those who were not. Logistic regression was used to examine the association between ASM and EPTS. Among 697 children with TBI, 161 (23.1%) developed EPTS and 280 (40.2%) received prophylactic ASM treatment. Use of prophylactic ASM was associated with a lower likelihood of developing EPTS (27/280 (9.6%) vs. 134/417 (32.1%), p < 0.001). The most frequently used prophylactic ASMs were phenytoin, levetiracetam, and phenobarbital. Age ≤ 4 years and GCS ≤ 8 were associated with increased odds of developing EPTS (aOR 2.29, 95% CI 1.54–3.40, p < 0.001 and aOR 1.80, 95% CI 1.18–2.74, p = 0.01). Our data provide evidence supporting the potential protective role of prophylactic ASM against EPTS.

Introducción: La formación en ecografía para residentes de ginecología y obstetricia presenta desafíos significativos. La variabilidad en los programas de capacitación, la falta de estándares definidos para la evaluación de competencias es una dificultad a afrontar, sumado a la capacidad de los servicios para la formación universal. Desde 2022 se implementa en la UA Ginecotocología A un plan piloto de formación en ultrasonido para residentes y posgrados. El objetivo de este estudio fue determinar la percepción de residentes y posgrados de la UA Ginecotocológica “A” sobre el impacto de la aplicación de un programa de formación curricular en ultrasonido. Metodología: Se realizó un estudio observacional, cuasi-experimental, pre-post sin grupo control del programa de formación en ecografía mediante instrumento de recogida de datos, específicamente diseñada para este estudio, no validado previamente. Resultados: Se incluyeron 21 residentes, 8 de primero, 6 de segundo y 7 de tercero con una mediana de edad de 29,6 años. Se evaluó la percepción de los mismos en cuanto a las destrezas nivel 1 en ecografía, que incluyen: medición de útero, anexos y longitud cervical, diagnóstico de embarazo intrauterino, realización de biometría fetal así como evaluación de líquido amniótico y placenta. La intervención mostró un impacto estadísticamente significativo en la autopercepción de competencias ecográficas en todos los parámetros observados ( p &lt; 0.001). Conclusiones: La incorporación de programas estructurados de formación en ecografía dentro del currículo de la especialidad en ginecología y obstetricia mejora la percepción de competencia por parte de los residentes, consolidándose como una herramienta educativa esencial para el desarrollo profesional.

ObjectiveThe aim of the study was to provide recommendations on quality standards for colposcopy and colposcopy training.MethodsA panel of experts from the Latin-American Federation of the Lower Genital Tract Pathology and Colposcopy agreed on quality standards for colposcopy and colposcopy training.ResultsA total of 17 general recommendations and the rationale behind them were provided. Eight colposcopy quality standards and nine standards for colposcopy training were issued.ConclusionsAdherence to the proposed standards could help ensure quality care of women. Colposcopists must be trained and certified.

To describe the percentage and characteristics of patients with LOMT records, including recommendations, time to implementation, and adherence. Retrospective study between 2009 and 2024, in children cared for by the Pediatric Palliative Care Unit of the Centro Hospitalario Pereira Rossell in Uruguay (UCPP-CH- PR). The variables evaluated were age, pathology, participants in decision-making, record, measures "to be performed" and "not to be performed", time between UCPP-CHPR referral/ LOMT decision and between LOMT/ death, place of death, and adherence to the LOMT directives. LOMT were recorded in 18.2% (244/1341) of patients; the median age was 4.8 years and 66% had severe neurological impairment. Healthcare teams and caregivers participated in the decision-making process in 88% of cases. The record was performed in a specific form in 88.5% of the cases. The LOMT directives included "to be performed": analgesia and comfort care (100%), admission to the general pediatric ward (96%); and "not to be performed": cardiopulmonary resuscitation (96%), admission to intensive care (98%), and mechanical ventilation support (98%). 4 patients underwent compassionate extubating. The median time between UCPP-CHPR/ LOMT was 6 months. A total of 77.4% (189/244) of the patients died, 70% of them while admitted. The median time between LOMT/ death was 3 months. The adherence rate to LOMT directives was 98%. Almost one-fifth of the children cared for by the UCPP-CHPR had LOMT directives. In most cases, healthcare professionals and caregivers participated in the decision-making process, and the directives were recorded in a specific form in the clinical history. In almost all deceased children, the LOMT directives were respected.

Introducción: La vitaminaB12 desempeña un papel fundamental en la placentación y el crecimiento fetal; su deficiencia en la embarazada se asocia a un mayor riesgo de complicaciones habituales del embarazo y consecuencias negativas para el recién nacido. Objetivo: El objetivo fue determinar los niveles de vitaminaB12 en mujeres uruguayas en el posparto inmediato y en la sangre del cordón umbilical de sus recién nacidos, y analizar la relación entre ambos. Materiales y Métodos: Estudio observacional descriptivo, en el que participaron 133 mujeres embarazadas (en el tercer trimestre de gestación). Se evaluaron las concentraciones totales de vitaminaB12 en muestras de las madres en el puerperio inmediato y de sus neonatos, utilizando sangre del cordón umbilical al nacer. Para las variables continuas, se evaluó su normalidad de forma gráfica y mediante la prueba de Shapiro-Wilk. La correlación entre las variables cuantitativas se estimó mediante el coeficiente de correlación lineal de Pearson. Resultados: La deficiencia en los niveles séricos maternos fue del 39,10% y en cordón umbilical fue del 16,54%. El enfoque se centró en la relación entre la deficiencia de vitaminaB12 materna y neonatal. Se encontró una relación estadísticamente significativa (p &lt;0,000), que revela que las madres con deficiencia de vitaminaB12 tienen cinco veces más probabilidades de tener un hijo con deficiencia de vitaminaB12, OR= 5,6 IC 95% (2,1-16,6). Conclusión: Se observó una alta prevalencia materna de deficiencia de vitaminaB12 durante el período posparto inmediato, así como una relación directa entre los niveles maternos durante el período posparto inmediato y los niveles en el cordón umbilical del recién nacido. El déficit materno aumenta el riesgo de déficit neonatal cinco veces. El déficit neonatal, a su vez, puede tener un impacto negativo en el desarrollo neurológico de los lactantes y los niños.

Introducción: existe preocupación mundial sobre la necesidad de mejorar el desempeño en los procedimientos endoscópicos, y una situación similar de inquietud surge en Latinoamérica. Un estudio de calidad comprende una endoscopia bien indicada, diagnóstico y terapia adecuados, con menores riesgos. El consenso PEnQuIN, realizado por expertos de Norteamérica y Europa, estableció indicadores de calidad estándar endoscópica pediátrica en tres momentos: preprocedimiento, intraprocedimiento y posprocedimiento. El objetivo es elaborar un consenso de expertos sobre los indicadores de calidad de endoscopia digestiva pediátrica en Latinoamérica. Metodología: considerando la evidencia científica disponible, unos enunciados se definieron y sometieron a consenso con el método Delphi en tiempo real. Se finalizaron rondas hasta lograr un acuerdo del 80% de los integrantes y más de 0,8 en alfa de Cronbach. Los 24 gastroenterólogos pediatras se eligieron utilizando el cuestionario modificado similar al usado en las cortes de California. Resultados: de 44 enunciados iniciales, se alcanzó un consenso en 36, los cuales se establecieron como indicadores de calidad en endoscopia digestiva pediátrica. Un acuerdo unánime se logró en ocho indicadores. El alfa de Cronbach alcanzado en este cuestionario Delphi fue de 0,85. Se clasificaron en 13 indicaciones preprocedimiento, 20 indicaciones intraprocedimiento y 3 indicaciones posprocedimiento. Conclusiones: los indicadores de calidad redactados como Consenso Delphi pueden ser utilizados en cualquier unidad de endoscopia pediátrica, son de fácil aplicación y adecuados a las definiciones de calidad en salud y de endoscopia. Estos indicadores pueden medirse y, al emplearlos, se minimizan las diferencias de recursos humanos y materiales de los países.

To present a case assisted at the Pereira Rossell Hospital Center of a very rare injury, its evolution, as well as an update on the diagnostic and therapeutic measures for this type of injury. Clinical case: A 12-year-old adolescent with no significant personal history who suffered a fall from a horse with direct trauma to the right elbow and no other trauma. Physical examination at the emergency room revealed a painful and swollen right elbow, no skin lesions, and no distal neurovascular alterations were found. Diagnosis was confirmed after requesting a CT scan of the elbow, which showed a supracondylar fracture. The fracture line divided the capitellum and was directed medially. A closed reduction maneuver and medial approach without arthrotomy were performed to identify the ulnar nerve. Three medial and one lateral Kirschner needles were placed. A brachypalmar splint was made. The Kirschner needles were removed at 6 weeks. Follow-up at 3 months after the injury.