Hospital Materno-Infantil

Sickle Cell Disease (SCD) is an autosomal recessive disorder with a substantial global burden. Despite its particularly high incidence in sub-Saharan Africa, early diagnosis remains limited in many countries. The objective of this study was to implement a newborn screening programme for SCD in one of the largest maternity hospitals in Angola and to support the subsequent pediatric follow-up of the affected children. Between June 2023 and December 2024, all children born in or attending the main hospital for vaccination were screened after parental or guardian consent. Blood was collected by heel-prick onto filter paper, and haemoglobin electrophoresis was performed by isoelectric focusing. Samples identified as HbSS were confirmed by PCR-RFLP, and atypical electrophoretic patterns were further analysed by DNA sequencing. In a total of 13,256 samples analysed the prevalence of HbSS was 1.38% (n=183), and 20.31% (n=2692) were HbAS. Other variants identified (n=44) included HbE, HbC, and α-globin gene alterations. Of the infants diagnosed with SCD, 106 (58%) families were successfully contacted, but only 76 (42%) children initiated regular medical follow-up and prophylactic treatment (penicillin, multivitamins, and vaccinations. 30 families (28%) declined treatment and just one declined follow-up. These findings confirm the high prevalence of SCD in Angola and demonstrate the capacity of newborn screening programmes in reducing early morbidity and mortality. However, the substantial proportion of families refusing follow-up highlights the need for strengthened community health education to improve understanding of SCD.

Avelumab, pembrolizumab, and enfortumab vedotin (EV) demonstrated efficacy in mUC following platinum-based chemotherapy. However, real-world data in patients with urothelial carcinoma with squamous differentiation (UCSD) are limited. The aim of this study is to assess the real-world clinical outcomes of avelumab, pembrolizumab, or EV in mUCSD patients. The ARON-2EV study is a retrospective, international, multicenter analysis in patients with mUC treated with avelumab, pembrolizumab, or EV across 79 centers in 21 countries. Patients were divided into three cohorts: 1 (avelumab), 2 (pembrolizumab), and 3 (EV). Primary endpoints were overall survival (OS) and time on treatment (ToT). Secondary objectives included evaluating clinical factors associated with outcomes and exploring the impact of UCSD histology on response to therapy. Statistical methods included Kaplan-Meier estimates, log-rank tests, Fisher's exact and chi-square tests, and Pearson's correlation coefficients. A total of 1918 patients, 1696 with advanced pure UC (pUC) and 222 with mUCSD (36 in cohort 1, 111 in cohort 2, and 75 in cohort 3), were included. Median OS was shorter in patients with UCSD compared to patients with pUC histology in the three cohorts (1: 13.0 vs 26.8months, HR 2.66,p = 0.003; 2: 10.2 vs 18.5months, HR 1.52,p = 0.008; and 3: 7.6 vs 13.1months, HR 1.68,p = 0.011). Median ToT was shorter in patients with UCSD compared to patients with pUC histology in cohort 1 (3.5 vs 5.6months, HR 1.57,p = 0.044) and 3 (7.6 vs 13.6months, HR 1.83,p = 0.005) but not in cohort 2 (3.7 vs 4.7months, HR 1.19,p = 0.177). Response to therapy was negatively correlated with UCSD histology in cohorts 2 (correlation coefficient 0.094,p = 0.008) and 3 (correlation coefficient 0.107,p = 0.021), while response to avelumab was not correlated with UCSD (correlation coefficient 0.072,p = 0.263). UCSD is a histology with a poor prognosis and response to treatments compared to pUC. Treatments activity and effectiveness in divergent differentiations should be addressed in dedicated prospective studies. NCT05290038.

A criptococose é uma micose sistêmica rara na infância, causada por fungos do gênero Cryptococcus spp., associada a elevada morbidade, especialmente com acometimento do sistema nervoso central. As espécies C. neoformans e C. gattii diferem quanto à epidemiologia, sendo C. neoformans geralmente responsável por infecções oportunistas em indivíduos imunodeprimidos. O presente estudo é observacional e descritivo, do tipo relato de caso, com autorização do responsável e aprovação da Comissão de Ética em Pesquisa. Os dados foram obtidos por análise do prontuário do paciente e revisão da literatura nas bases SciELO, LILACS e PubMed. O trabalho relata um caso de meningite criptocócica em paciente pediátrico previamente hígido, admitido com cefaleia intensa, febre, vômitos, dor cervical e sinais neurológicos focais há um mês. O líquor sugeriu infecção fúngica, com confirmação do Cryptococcus neoformans em exame micológico direto. O paciente recebeu tratamento conforme protocolo preconizado, evoluindo com intercorrências, incluindo hipertensão intracraniana e complicações infecciosas, que foram manejadas. Após estabilização, apresentou boa evolução, recebeu alta e concluiu o tratamento em domicílio. A meningite criptocócica possui elevada morbimortalidade, e deve ser considerada também em imunocompetentes, devendo ser incluída no diagnóstico diferencial para reduzir complicações.

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.

La intervención centrada en los guiones es útil para mejorar el desarrollo comunicativo y social del alumnado con dificultades. El objetivo de este estudio es analizar las repercusiones que tiene en las habilidades de un alumno de cinco años con trastornos del espectro del autismo y algunos de los factores que la condicionan. El programa se desarrolló en dos contextos que constaron de ocho y siete sesiones. Solamente en el segundo participaron los iguales. Se utilizó un diseño ab con el fin de analizar los efectos del programa y otro de línea base múltiple entre conductas con control concurrente para confirmar que los cambios observados se debieron a la intervención. Las variables dependientes fueron las habilidades lingüísticas -la longitud media y máxima de emisión y la producción de algunas estructuras gramaticales- y sociales: la duración de las interacciones, el uso del nombre de otras personas, invitaciones a jugar, saludos y enunciados de cortesía. Igualmente, se compararon los valores que alcanzaron tras la intervención las variables dependientes en ambos contextos y se examinó la correlación existente entre la producción de las estructuras enseñadas y los episodios de enseñanza. Los resultados mostraron una mejoría en todas las variables dependientes, que esa mejoría fue mayor en el segundo contexto de intervención, excepto en el caso de las estructuras gramaticales que constituyeron objetivos de intervención y que hubo correlaciones estadísticamente significativas entre esas estructuras y los episodios de enseñanza. Se discute el papel que desempeñaron adultos e iguales y las “escenas de experiencia” en la mejoría observada.

<p><span style="font-weight: normal !msorm;"><strong>Introducción</strong></span><strong>. </strong>El sarampión es una enfermedad viral, caracterizada por fiebre y exantema. Durante los últimos años, se ha convertido en un problema de salud pública, atribuida a bajas coberturas de vacunación y al diagnóstico tardío. La vacuna que protege contra el sarampión tiene una efectividad del 95%. En pacientes inmunosuprimidos, existe el riesgo aumentado, aunque poco frecuente, de desarrollar una infección post vacunal. <span style="font-weight: normal !msorm;"><strong>Caso clínico</strong></span><strong>.</strong> Presentamos el caso de un paciente masculino de 19 meses de edad, desnutrido crónico, hospitalizado por infección respiratoria y diarrea acuosa, con vacunación reciente con MMR hace 19 días y antecedente de 4 hospitalizaciones anteriores por infecciones respiratorias. Se diagnosticó infección por el virus de inmunodeficiencia humana (VIH) y se inicia tratamiento antirretroviral (TARV). A los 15 días de haber iniciado la TARV reinicia con episodios febriles asociados a un exantema eritematoso generalizado. Se tomaron muestras para la vigilancia de fiebres exantemáticas, con resultado positivo para sarampión. No se logró aislar el genotipo vacunal. No se encontraron contactos sintomáticos ni positivos. <span style="font-weight: normal !msorm;"><strong>Conclusión</strong></span><strong>. </strong>En individuos inmunosuprimidos, la colocación de vacunas de virus vivos, es una contraindicación relativa al nivel de inmunosupresión, por lo que se debe evaluar el riesgo beneficio. Se recomienda continuar con la vigilancia de fiebre exantemáticas, como una medida eficaz y oportuna de captar casos probables de sarampión, una enfermedad declarada eliminada en Panamá.</p>

Las anemias hereditarias son un conjunto de trastornos hematológicos que muestran una amplia heterogeneidad clínica y genética, lo que dificulta el abordaje a un diagnóstico de certeza y, por lo tanto, un tratamiento en forma oportuna. En el presente reporte se describe el caso de un paciente en edad pediátrica con anemia hemolítica asociada a una variante en el gen SPTA1 con dependencia transfusional y consecuente sobrecarga de hierro, para el cual se decidió la realización de esplenectomía con el fin de beneficiar el crecimiento y desarrollo del niño.