SARS-CoV-2 congenital infection and pre-eclampsia-like syndrome in dichorionic twins: A case report and review of the literature

Although the route of transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is mainly respiratory, vertical transmission seems possible.1 We report the case of a woman with a dichorionic diamniotic twin pregnancy admitted to Hospital Clínico Universitario Lozano Blesa at 38+4 weeks of gestation due to severe pre-eclampsia in the context of a SARS-CoV-2 infection (positive nasopharyngeal PCR; Viasure, CerTest Biotec., Zaragoza, Spain) with a probable transplacental transmission of the virus to both twins..

Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015

Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un Registro online de pacientes para optimizar su cuidado. Objetivo Conocer las características y la evolución de los pacientes españoles con SHCC y detectar áreas de mejora. Materiales y método Se analizaron los datos actualizados en diciembre del 2015 de los pacientes españoles del Registro europeo. Resultados Se registró a 38 pacientes, nacidos entre 1987 y 2013, procedentes de 18 hospitales. El 34, 2% eran mayores de 18 años. Han fallecido 3 pacientes. Aportaban estudio del gen PHOX2B 37 (97, 3%), 32 (86, 5%) con mutación. Los genotipos 20/25, 20/26 y 20/27 representaron el 84, 3% de las mutaciones. Las disautonomías fueron más frecuentes y graves en portadores de genotipos con mayores expansiones de polialaninas. El 47% de pacientes asociaba alteraciones oculares, el 16% Hirschsprung, el 13% hipoglucemias y el 5% tumores. Treinta pacientes (79%) debutaron en el periodo neonatal y 8 (21%) posteriormente (inicio/diagnóstico tardío). Ocho niños (21%) recibieron inicialmente ventilación domiciliaria con mascarilla; 5 eran lactantes con comienzo neonatal, 2 de ellos precisaron cambio a traqueostomía tras presentar parada cardiorrespiratoria; ambos tenían mutaciones graves. Han sido decanulados y transferidos a mascarilla el 34, 3% de los pacientes (edad media: 13, 7 años). El 29, 4% de los niños escolarizados precisaron refuerzo educativo. Conclusión La implementación del Registro en España de pacientes con SHCC ha permitido identificar aspectos relevantes para optimizar sus cuidados, tales como la importancia del estudio genético para el diagnóstico y la estimación de gravedad, la frecuencia elevada de alteraciones oculares y de necesidad de refuerzo educativo, y algunas limitaciones de las técnicas ventilatorias. Introduction Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. Materials and method An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. Results The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. Conclusion The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques

Trends in Outcomes for Neonates Born Very Preterm and Very Low Birth Weight in 11 High-Income Countries

Objective To evaluate outcome trends of neonates born very preterm in 11 high-income countries participating in the International Network for Evaluating Outcomes of neonates. Study design In a retrospective cohort study, we included 154 233 neonates admitted to 529 neonatal units between January 1, 2007, and December 31, 2015, at 24(0/7) to 31(6/7) weeks of gestational age and birth weight <1500 g. Composite outcomes were in-hospital mortality or any of severe neurologic injury, treated retinopathy of prematurity, and bronchopulmonary dysplasia (BPD); and same composite outcome excluding BPD. Secondary outcomes were mortality and individual morbidities. For each country, annual outcome trends and adjusted relative risks comparing epoch 2 (2012-2015) to epoch 1 (2007-2011) were analyzed. Results For composite outcome including BPD, the trend decreased in Canada and Israel but increased in Australia and New Zealand, Japan, Spain, Sweden, and the United Kingdom. For composite outcome excluding BPD, the trend decreased in all countries except Spain, Sweden, Tuscany, and the United Kingdom. The risk of composite outcome was lower in epoch 2 than epoch 1 in Canada (adjusted relative risks 0.78; 95% CI 0.74-0.82) only. The risk of composite outcome excluding BPD was significantly lower in epoch 2 compared with epoch 1 in Australia and New Zealand, Canada, Finland, Japan, and Switzerland. Mortality rates reduced in most countries in epoch 2. BPD rates increased significantly in all countries except Canada, Israel, Finland, and Tuscany. Conclusions In most countries, mortality decreased whereas BPD increased for neonates born very preterm

Prevalencia de trastornos psiquiátricos en pacientes ingresados por el Servicio de Psiquiatría en el Módulo Penitenciario del H.U.M.S. Prevalence of psychiatric disorders on patients admissed by the psychiatric service in the security area of H.U.M.S. (University Hospital "Miguel Servet")

Introducción: Estudios epidemiológicos recientes destacan el aumento de prevalencia de trastornos psiquiátricos en presos. El objetivo del presente estudio es determinar los trastornos psiquiátricos principales y secundarios más prevalentes, datos sociodemográficos y estancia media, de los pacientes ingresados en el Módulo Penitenciario de un hospital general a cargo del Servicio de Psiquiatría. Material y método: Estudio descriptivo transversal retrospectivo. La muestra está compuesta por los pacientes ingresados en el Módulo Penitenciario a cargo de Psiquiatría durante 5 años, siendo n=136. Resultados: El 90,4% fueron hombres y el 9,6% mujeres. La edad media fue de 34,18 años. Los diagnósticos psiquiátricos principales más prevalentes fueron: Tr. Personalidad 22%, Tr. Esquizofrénicos 16,3%. Como diagnósticos psiquiátricos secundarios más prevalentes encontramos: Tr. Personalidad 11,9%, Abuso de drogas 10,7%. Conclusiones: El diagnóstico psiquiátrico principal y secundario más prevalente fue el trastorno de personalidad. Se documentó la existencia de una alta comorbilidad con el abuso-dependencia de tóxicos. Actualmente las prisiones carecen de equipos multidisciplinares en Salud Mental, con lo que en muchas ocasiones se hace necesario el traslado del preso al hospital con la carga asistencial y el incremento de costes que esto supone.Introduction: recent epidemiological studies highlight an increase in the prevalence of psychiatric disorders amongst prison inmates. The objective of this study to determine the most prevalent primary and secondary psychiatric disorders, socio-demographic data and average stay period amongst patients admitted to the Prison Unit of a general hospital as charges of the Psychiatric Service. Materials and Methods: retrospective cross-sectional descriptive study. The sample group consisted of a number of patients admitted into the Prison Unit as charges of the Psychiatric Service during a five year period (n=136). Results: 90,4% were men and 9,6% were women. The average age was 34,18 years. The most prevalent primary psychiatric diagnoses were: Personality Disorder 22%, and Schizophrenic Disorder 16,3%. The most prevalent secondary psychiatric diagnoses were: Personality Disorder 11,9%, Substance Abuse 10,7%. Conclusions: the most prevalent primary and secondary psychiatric diagnosis was personality disorder. The existence of a high level of comorbidity of substance abuse-dependence was recorded. Prisons currently lack Mental Health multidisciplinary teams. This often means that the inmate must be transferred to a hospital with the increased work load and financial cost that this implies

Hipoplasia pontocerebelosa tipo I familiar con mutación en EXOSC3

Sra. Editora: Las hipoplasias pontocerebelosas (HPC) son un grupo heterogéneo de trastornos neurodegenerativos raros con herencia autosómica recesiva, caracterizados por hipoplasia de cerebelo y protuberancia, asociada a microcefalia progresiva. Actualmente se conocen 10 subtipos (HPC1-10) cuya incidencia individual es desconocida, y en las que la correlación genotipo-fenotipo es todavía objeto de estudio. La HPC1, la más prevalente, presenta la peculiaridad de asociar una degeneración de las neuronas del asta anterior de la médula, dando lugar a una clínica superponible a una atrofia muscular espinal tipo I, y que incluye hipotonía grave y dificultades importantes para la alimentación. En este trabajo presentamos el caso de 2 hermanos de progenitores sanos no consanguíneos, de origen rumano, afectados por HPC tipo 1B asociada a mutación en el gen EXOSC. No constataban antecedentes familiares de interés..

The International Network for Evaluating Outcomes (iNeo) of neonates: evolution, progress and opportunities

Neonates born very preterm (before 32 weeks’ gestational age), are a significant public health concern because of their high-risk of mortality and life-long disability. In addition, caring for very preterm neonates can be expensive, both during their initial hospitalization and their long-term cost of permanent impairments. To address these issues, national and regional neonatal networks around the world collect and analyse data from their constituents to identify trends in outcomes, and conduct benchmarking, audit and research. Improving neonatal outcomes and reducing health care costs is a global problem that can be addressed using collaborative approaches to assess practice variation between countries, conduct research and implement evidence-based practices. The International Network for Evaluating Outcomes (iNeo) of neonates was established in 2013 with the goal of improving outcomes for very preterm neonates through international collaboration and comparisons. To date, 10 national or regional population-based neonatal networks/datasets participate in iNeo collaboration. The initiative now includes data on >200,000 very preterm neonates and has conducted important epidemiological studies evaluating outcomes, variations and trends. The collaboration has also surveyed >320 neonatal units worldwide to learn about variations in practices, healthcare service delivery, and physical, environmental and manpower related factors and support services for parents. The iNeo collaboration serves as a strong international platform for Neonatal-Perinatal health services research that facilitates international data sharing, capacity building, and global efforts to improve very preterm neonate care