High-flow nasal cannula and non-invasive mechanical ventilation in pediatric asthma exacerbation: two-year prospective observational study in intensive care.

BACKGROUND: Asthma is a common cause of admission to the pediatric intensive care unit (PICU). We described and analyzed the therapies applied to children admitted to a tertiary PICU because of asthma. Later, we evaluated high-flow nasal cannula (HFNC) use in these patients and compared their evolution and complications with those who received non-invasive ventilation. METHODS: We conducted a prospective observational study (October 2017-October 2019). Collected data: epidemiological, clinical, respiratory support therapy needed, complementary tests, and PICU and hospital stay. Patients were divided into three groups: (1) only HFNC; (2) HFNC and non-invasive mechanical ventilation (NIMV); and (3) only NIMV. RESULTS: Seventy-six patients were included (39 female). The median age was 2 years and 1 month. The median pulmonary score was 5. The median PICU stay was 3 days, and the hospital stay was 6 days. Children with HNFC only (56/76) had fewer PICU days (p = 0.025) and did not require NIMV (6/76). Children with HFNC had a higher oxygen saturation/fraction of inspired oxygen ratio ratio (p = 0.025) and lower PCO2 (p = 0.032). In the group receiving both therapies (14/76), NIMV was used first in all cases. No epidemiologic or clinical differences were found among groups. CONCLUSION: HFNC was a safe approach that did not increase the number of PICU or hospital days. On admission, normal initial blood gases and the absence of high oxygen requirements were useful in selecting responders to HFNC. Further randomized and multicenter clinical trials are needed to verify these data.

INTRODUCCIÓN: El asma es una causa frecuente de ingreso en la unidad de cuidados intensivos pediátricos (UCIP). En este, cuadro el uso de cánula nasal de alto flujo (CNAF) se ha visto extendido. En este trabajo se describe el tratamiento global en la UCIP ante el ingreso por asma en un hospital monográfico pediátrico y se evalúa la respuesta al uso de la CNAF, comparando la evolución de los pacientes con aquellos que recibieron ventilación no invasiva (VNI). MÉTODOS: Se llevó a cabo un estudio observacional prospectivo (de octubre del 2017 a octubre del 2019). Se describieron epidemiología, clínica, tratamiento y soporte respiratorio. Para la comparación se crearon tres grupos de pacientes: 1) solo CNAF; 2) CNAF y VNI; y 3) solo VNI. RESULTADOS: Se incluyeron 76 pacientes. La mediana de edad fue de dos años y un mes; la mediana de índice pulmonar fue 5. La mediana de ingreso en UCIP fue de tres días y de ingreso hospitalario, seis días. Los niños con solo CNAF (56/76) mostraron menos días de UCIP (p = 0.025) y no requirieron VNI (6/76). También mostraron mayor SatO2/FiO2 (saturación de oxígeno/fracción de oxígeno inspirado) (p = 0.025) y menor nivel de PCO2 (presión parcial de CO2) (p = 0.032). La VNI se utilizó primero siempre en el grupo que recibió ambas modalidades (14/76). No se encontraron diferencias epidemiológicas o clínicas entre grupos. CONCLUSIONES: En nuestra serie, el uso de CNAF no aumentó los días de ingreso en la UCIP ni de hospital. Tampoco requirió cambio a VNI. Al ingreso, una gasometría normal y bajo requerimiento de oxígeno permitieron seleccionar a los pacientes respondedores. Se necesitan más ensayos multicéntricos clínicos aleatorizados para verificar estos datos.

High-flow nasal cannula and non-invasive mechanical ventilation in pediatric asthma exacerbation: two-year prospective observational study in intensive care / Cánula nasal de alto flujo y ventilación no invasiva en asma pediátrico grave: estudio observacional prospectivo de dos años de duración en cuidados intensivos

Abstract Background: Asthma is a common cause of admission to the pediatric intensive care unit (PICU). We described and analyzed the therapies applied to children admitted to a tertiary PICU because of asthma. Later, we evaluated high-flow nasal cannula (HFNC) use in these patients and compared their evolution and complications with those who received non-invasive ventilation. Methods: We conducted a prospective observational study (October 2017-October 2019). Collected data: epidemiological, clinical, respiratory support therapy needed, complementary tests, and PICU and hospital stay. Patients were divided into three groups: (1) only HFNC; (2) HFNC and non-invasive mechanical ventilation (NIMV); and (3) only NIMV. Results: Seventy-six patients were included (39 female). The median age was 2 years and 1 month. The median pulmonary score was 5. The median PICU stay was 3 days, and the hospital stay was 6 days. Children with HNFC only (56/76) had fewer PICU days (p = 0.025) and did not require NIMV (6/76). Children with HFNC had a higher oxygen saturation/fraction of inspired oxygen ratio ratio (p = 0.025) and lower PCO2 (p = 0.032). In the group receiving both therapies (14/76), NIMV was used first in all cases. No epidemiologic or clinical differences were found among groups. Conclusion: HFNC was a safe approach that did not increase the number of PICU or hospital days. On admission, normal initial blood gases and the absence of high oxygen requirements were useful in selecting responders to HFNC. Further randomized and multicenter clinical trials are needed to verify these data.

Resumen Introducción: El asma es una causa frecuente de ingreso en la unidad de cuidados intensivos pediátricos (UCIP). En este, cuadro el uso de cánula nasal de alto flujo (CNAF) se ha visto extendido. En este trabajo se describe el tratamiento global en la UCIP ante el ingreso por asma en un hospital monográfico pediátrico y se evalúa la respuesta al uso de la CNAF, comparando la evolución de los pacientes con aquellos que recibieron ventilación no invasiva (VNI). Métodos: Se llevó a cabo un estudio observacional prospectivo (de octubre del 2017 a octubre del 2019). Se describieron epidemiología, clínica, tratamiento y soporte respiratorio. Para la comparación se crearon tres grupos de pacientes: 1) solo CNAF; 2) CNAF y VNI; y 3) solo VNI. Resultados: Se incluyeron 76 pacientes. La mediana de edad fue de dos años y un mes; la mediana de índice pulmonar fue 5. La mediana de ingreso en UCIP fue de tres días y de ingreso hospitalario, seis días. Los niños con solo CNAF (56/76) mostraron menos días de UCIP (p = 0.025) y no requirieron VNI (6/76). También mostraron mayor SatO2/FiO2 (saturación de oxígeno/fracción de oxígeno inspirado) (p = 0.025) y menor nivel de PCO2 (presión parcial de CO2) (p = 0.032). La VNI se utilizó primero siempre en el grupo que recibió ambas modalidades (14/76). No se encontraron diferencias epidemiológicas o clínicas entre grupos. Conclusiones: En nuestra serie, el uso de CNAF no aumentó los días de ingreso en la UCIP ni de hospital. Tampoco requirió cambio a VNI. Al ingreso, una gasometría normal y bajo requerimiento de oxígeno permitieron seleccionar a los pacientes respondedores. Se necesitan más ensayos multicéntricos clínicos aleatorizados para verificar estos datos.

PIMS-TS immunophenotype: description and comparison with healthy children, Kawasaki disease and severe viral and bacterial infections.

BACKGROUND: A new clinical syndrome named Paediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 (PIMS-TS) has been described. This new disease is a leading cause of hospital and paediatric intensive care unit (PICU). It has been related to immunity dysregulation. METHODS: Prospective-retrospective observational study to describe the innate cell signature and immunophenotype of children admitted to PICU because of PIMS-TS (from March 2020 to September 2020). The immunophenotype was done through the expression analysis of these proteins of mononuclear cells: CD64, CD18, CD11a and CD11b. They were compared with previous healthy controls and children admitted to PICU because of bacterial infection, viral infection and Kawasaki disease (KD). Two hundred and forty-seven children were studied: 183 healthy controls, 25 viral infections, 20 bacterial infections, 6 KD and 13 PIMS-TS. RESULTS: PIMT-TS showed the lowest percentage of lymphocytes and monocytes with higher relative numbers of CD4+ (p = .000). Monocytes and neutrophils in PIMS-TS showed higher levels of CD64 expression (p = .000). Also, CD11a and CD11b were highly expressed (p =,000). CONCLUSION: We observed a differential cell innate signature in PIMS-TS. These findings are consistent with a proinflammatory status (CD64 elevated expression) and lymphocyte trafficking to tissues (CD11a and CD11b). More studies should be carried out to confirm our results.

A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa.

We investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa (EB), a group of genetic blistering diseases. A clinically normal bitch was bred to her grandfather by artificial insemination. Out of a litter of seven puppies, two affected puppies died and one was euthanized, with these puppies being submitted for diagnostic necropsy. All had multiple bullae and ulcers involving the nasal planum and paw pads, as well as sloughing claws; one puppy also had oral and esophageal ulcers. The complete genome of one affected puppy was sequenced, and 37 known EB candidate genes were assessed. We found a candidate causative variant in COL7A1, which encodes the collagen VII alpha 1 chain. The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11). Targeted genotyping of this duplication confirmed that all three affected puppies were homozygous for the duplication, whereas 12 unaffected Basset Hounds did not carry the duplication. This variant was also not seen in the genomes of more than 600 dogs of other breeds. COL7A1 variants have been identified in humans and dogs with dystrophic epidermolysis bullosa (DEB). The identified COL7A1 variant therefore most likely represents the causative variant and allows the refinement of the preliminary EB diagnosis to DEB.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. CONCLUSION: Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.

sRAGE as severe acute bronchiolitis biomarker, prospective observational study.

INTRODUCTION AND OBJECTIVES: Acute bronchiolitis (AB) is the leading cause of hospitalization in infants and around 5% require intensive care treatment. Early identification of children diagnosed with AB at a high risk of severe progression is of great interest. The receptor for advanced glycation end products (RAGE), highly expressed in lung tissue, regulates immune responses and inflammation, and its soluble form, sRAGE, is believed to have an anti-inflammatory role. We hypothesized serum sRAGE might be a major determinant of AB severity and prognosis. This study was conducted to measure serum sRAGE in infants with severe AB and to assess its correlation with clinical severity, immediate complications, and outcome. METHODS: Single-center, prospective, observational study of hospitalized children with severe bronchiolitis admitted to the Pediatric Intensive Care Unit (PICU), from September 2015 to September 2016. RESULTS: A total of 52 children and 27 controls were included. The cases age ranged from 11 days to 21 months, resulting in a significant age difference with controls (11.85 vs 4.84 months, P < .01). Serum levels of sRAGE were lower but not significant in severe AB patients than in controls (1350.93 vs 1450.42 pg/mL; P = .399). No correlation was found between serum sRAGE and causative viruses, clinical symptoms, Wood-Downes score (a clinical severity score) on admission, respiratory support, or length of hospital stay. Serum sRAGE was also lower in the cases having had a previous respiratory disease (1463.84 vs 1072.43 pg/mL; P = .049). However, it was higher in patients with any lung consolidation on the chest X-ray (1584.79 vs 1131.62 pg/mL; P = .044) and weakly positively correlated with classical biomarkers (maximum C-reactive protein, +0.295, P = .034; maximum procalcitonin, +0.309; P = .029). CONCLUSION: This single-center study reveals that sRAGE couldn't predict AB severity or outcome in children hospitalized at PICU. Nevertheless, it significantly increased in the presence of any lung consolidation and had a positive correlation with classical biomarkers. The utility of sRAGE in this population could be probably elucidated with a better understanding of AGE-RAGE axis.

Children in Critical Care Due to Severe Acute Respiratory Syndrome Coronavirus 2 Infection: Experience in a Spanish Hospital.

OBJECTIVES: Spain has been one of the countries most severely affected by the coronavirus disease 2019. This study aims to describe a series of children admitted to a PICU due to coronavirus disease 2019 infection. DESIGN: Prospective observational study. SETTING: Tertiary hospital in Madrid, Spain. PATIENTS: Children admitted to the PICU with severe acute respiratory syndrome coronavirus 2 (severe acute respiratory syndrome coronavirus 2) infection, from March 1, 2020, to April 15, 2020. INTERVENTIONS: Observational study. MEASUREMENTS AND MAIN RESULTS: Epidemiologic data, previous clinical characteristics, support therapy needed, imaging tests, laboratory observations on admission, and pharmacologic therapy. Eleven children were admitted to the PICU, with suspected coronavirus disease 2019; the polymerase chain reaction test was positive in seven. The median age was 100.7 months (range, 0.5-162). Five were admitted from the emergency department and two from the ward. The Pediatric Sequential Organ Failure Assessment score was 3 (range, 0-9), and Pediatric Risk of Mortality II score was 4 (range, 0-16). All children were previously healthy except one (allogeneic hematopoietic stem cell transplantation). Respiratory symptoms and fever were prevalent. A chest radiograph led to a pneumonia diagnosis. Not all patients presented with lymphopenia on admission. D-Dimer and ferritin were elevated. All patients needed oxygen therapy through a nasal cannula; five patients received high-flow nasal cannula therapy, which was later substituted with noninvasive ventilation in four. Mechanical ventilation was necessary in two patients on the first day of PICU admission. Two children required mechanical ventilation and inotropic support. Tocilizumab was applied in two intubated children. Also, four children received heparin. No patients died. CONCLUSIONS: On the whole, the children were previously healthy and are more than 1 year old. Respiratory symptoms were the leading cause of PICU admission, making respiratory support the principal therapy. Patients requiring mechanical ventilation showed deterioration on the first day of admission. These children seemed to require close monitoring, and multicenter studies are necessary.

CD64 on monocytes and granulocytes in severe acute bronchiolitis: Pilot study on its usefulness as a bacterial infection biomarker.

The CD64 receptor has been described as a biomarker of bacterial infection. We speculated that CD64 surface expression on monocytes and granulocytes of children with severe acute bronchiolitis (SAB) could be altered in cases of probable bacterial infection (PBI) determined using classical biomarkers (procalcitonin and C-reactive protein, leukocyte count, and radiographic findings). A prospective observational pilot study was conducted from October 2015 to February 2016 in children admitted for pediatric critical care. A blood sample was taken in the first 24 hours of admission, and CD64 was measured by flow cytometry. The values obtained were analyzed and correlated with traditional biomarkers of PBI. Thirty-two children were included; a correlation was found between CD64 expression and the PBI criteria. CD64 surface expression was higher in children with PBI (area under the receiver operating characteristic curve of 0.73; P = 0.042) and the percentage of CD64+ granulocytes was higher in children with PBI. This is the first study to describe CD64 surface expression on monocytes and granulocytes in SAB, finding CD64 values to be higher in children with PBI. Larger clinical studies are needed to elucidate the real accuracy of CD64 as a biomarker of bacterial infection.

Estudio retrospectivo de pacientes derivados de cuidados intensivos pediátricos a cuidados paliativos: por qué y para qué / Retrospective study of children referred from paediatric intensive care to palliative care: Why and for what

Introducción: La creación de Unidades de Cuidados Paliativos Pediátricos (UCPP) podría optimizar el manejo de niños que tras ingreso en la unidad de cuidados intensivos pediátricos (UCIP) requieren enfoque paliativo. Este trabajo describe las características clínico-epidemiológicas de pacientes derivados por este hecho a la UCPP de la Comunidad Autónoma de Madrid (CAM). Se detallan el tratamiento global requerido, las reagudizaciones, los ingresos hospitalarios y las condiciones del fallecimiento, si se produjo. Pacientes y método: Estudio retrospectivo mediante revisión de historias clínicas de pacientes derivados desde las diferentes UCIP de la CAM a la UCPP (1 de marzo del 2008-31 de enero del 2015). Resultados: Se incluye a 41 pacientes (26 varones/15 mujeres, mediana de edad de 33 meses, rango de 1-228). En seguimiento por la UCPP son los abordajes principales el respiratorio (ventilación invasiva con traqueostomía 8/41), nutricional (20/41 gastrostomía) y farmacológico (29/41 anticomiciales y 34/41antibioterapia). El tiempo de seguimiento fue de 232 días (rango 1-1.164). Requieren ingreso hospitalario 11/41, sin reingresos en UCIP. Fallecen 13/41 pacientes de los cuales 9/13 lo hacen en domicilio, todos acompañados por los cuidadores principales y solo en 1/9 con presencia del equipo domiciliario. Conclusiones: El enfoque paliativo domiciliario de niños con ingreso en intensivos y dependientes de tecnología es posible. Se requiere hospitalización domiciliaria que no deriva en todos los casos en el fallecimiento del paciente. La integración de UCPP podría así optimizar el cuidado integral de pacientes previamente críticos, siendo necesarios trabajos observacionales, prospectivos y multicéntricos para confirmar esto (AU)

Introduction: The creation of paediatric palliative care units (PPCU) could optimise the management of children with palliative focus after admission to a paediatric intensive care unit (PICU). This study describes the clinical and epidemiological characteristics of children referred from PICU to the PPCU of the Autonomous Community of Madrid (CAM). The overall treatment, relapses, re-admissions, and deaths, if occurred, are described. Patients and method: A retrospective review was performed using the medical records from children transferred from the CAM paediatric intensive care units to the paediatric palliative care unit (1 March 2008-31 January 2015). Results: A total of 41 patients were included (26 male/15 female) with a median age of 33 months (range 1-228). In the follow by the PPCU follow-up, the main approaches were respiratory (invasive ventilation with tracheostomy tube 8/41), nutritional (gastrostomy in 20/41), and pharmacological (anti-epileptics in 29/41 and 34/41 on antibiotic treatment). Hospital re-admission was required by 11/41 patients, with no re-admissions to PICU. Of the 13/41 patients who died, 9/13 was at home, with all of them accompanied by the primary caregivers and family, and only 1/9 with the presence of the home team. Conclusions: The palliative approach at home is feasible in children, and the integration of PPCU could optimise the comprehensive care of previously critically ill children. It is necessary to achieve an optimal domiciliary care should be achieved, and not just because of patient death. More observational, multicentre and prospective studies are needed to confirm these findings (AU)

[Retrospective study of children referred from paediatric intensive care to palliative care: Why and for what]. / Estudio retrospectivo de pacientes derivados de cuidados intensivos pediátricos a cuidados paliativos: por qué y para qué.

INTRODUCTION: The creation of paediatric palliative care units (PPCU) could optimise the management of children with palliative focus after admission to a paediatric intensive care unit (PICU). This study describes the clinical and epidemiological characteristics of children referred from PICU to the PPCU of the Autonomous Community of Madrid (CAM). The overall treatment, relapses, re-admissions, and deaths, if occurred, are described. PATIENTS AND METHOD: A retrospective review was performed using the medical records from children transferred from the CAM paediatric intensive care units to the paediatric palliative care unit (1 March 2008-31 January 2015). RESULTS: A total of 41 patients were included (26 male/15 female) with a median age of 33 months (range 1-228). In the follow by the PPCU follow-up, the main approaches were respiratory (invasive ventilation with tracheostomy tube 8/41), nutritional (gastrostomy in 20/41), and pharmacological (anti-epileptics in 29/41 and 34/41 on antibiotic treatment). Hospital re-admission was required by 11/41 patients, with no re-admissions to PICU. Of the 13/41 patients who died, 9/13 was at home, with all of them accompanied by the primary caregivers and family, and only 1/9 with the presence of the home team. CONCLUSIONS: The palliative approach at home is feasible in children, and the integration of PPCU could optimise the comprehensive care of previously critically ill children. It is necessary to achieve an optimal domiciliary care should be achieved, and not just because of patient death. More observational, multicentre and prospective studies are needed to confirm these findings.

Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015 / Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

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

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]. / Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.

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.

Pediatric Disseminated Lemierre Syndrome in 2 Infants: Not Too Young for an Ancient Disease.

The Lemierre syndrome is characterized by an oropharyngeal infection, thrombosis of the internal jugular vein, and multiple septic metastases. Fusobacterium necrophorum is a common cause of it. The incidence is 0.6 to 2.3 cases per million with a mortality rate of 4% to 18%. Its fast evolution and the possibility of severe complications require a high index of suspicion for its diagnosis. We present 2 infants with Lemierre syndrome. The younger case, a 6-month-old infant, was fully recovered. In the other side, and despite an aggressive therapy, an 18-month-old infant developed cerebral palsy. We also provide a short literature review with a focus on clinical presentation and differential diagnosis in order to initiate an early and adequate therapy.

Per-species risk factors and predictors of invasive Candida infections in patients admitted to pediatric intensive care units: development of ERICAP scoring systems.

BACKGROUND: Prediction rules for invasive Candida infection (ICI) are available for adult but not for infants and children managed in pediatric intensive care units (PICU). METHODS: Observational study in 24 PICU with prospective phase (all children admitted during 1 year) and retrospective review of ICI records. Four logistic regression models were performed using ICI by Candida spp., Candida albicans, Candida parapsilosis or Candida tropicalis as dependent variables. Scores were constructed. RESULTS: One hundred and twenty five ICI (47 C. albicans, 37 C. parapsilosis, 19 C. tropicalis and 22 others) and 1022 controls were included. Incidence (cases/100 PICU admissions): 4.22 (all Candida), 2.44 (C. albicans), 1.41 (C. parapsilosis), 0.19 (C. tropicalis). ICI was associated [Area under the receiver operating characteristics curve (AUC) = 0.764, 95% confidence interval (CI) = 0.719-0.809, P < 0.001] with pre-PICU hospitalization ≥ 15 days [odds ratio (OR) = 3.3; score: +3], fever (OR = 2.6; +2), thrombopenia (OR = 2.0; +1) and parenteral nutrition (OR=2.4; +2). Additionally, the following associations were noted: C. albicans ICI (AUC = 0.716, 95% CI = 0.640-0.792, P < 0.001) with chronic metabolic disease (OR = 10.7; score:+4), surgical digestive process (OR = 2.8; +1), fever (OR = 2.8; +1) and parenteral nutrition (OR = 2.3; +1); C. parapsilosis ICI (AUC = 0.808, 95% CI = 0.739-0.877, P < 0.001) with previous colonization (OR = 7.1; score:+3), tracheostomy (OR = 5.1; +2), parenteral nutrition (OR = 4.3; +2), thrombopenia (OR = 3.6; +1) and previous bacterial infection (OR = 3.0; +1) and ICI by C. tropicalis (AUC = 0.941, 95% CI=0.886-0.995, P < 0.001) with thrombopenia (OR = 53.8; score: +10), neutropenia (OR = 7.2; +1), pre-PICU hospitalization ≥ 15 days (OR = 17.2; +3) and hematologic (OR = 22.4; +4) and cardiovascular infectious processes (OR = 5.5; +1). Specificity was >90% for cut offs of 5 (all Candida), 3 (C. albicans), 3 (C. parapsilosis) and 11 (C. tropicalis). CONCLUSIONS: Once validated, these scores may help for identification of ICI by specific species allowing adequate empiric/prophylactic treatment.

C. albicans, C. parapsilosis and C. tropicalis invasive infections in the PICU: clinical features, prognosis and mortality / Infección invasiva por C. albicans, C. parapsilosis y C. tropicalis en la UCI pediátrica: características clínicas, pronóstico y mortalidad

Candida albicans remains the most common agent associated with invasive Candida infection (ICI), but with increasing number of non-albicans species. An epidemiological, observational study exploring host criteria, clinical characteristics and mortality of ICI was performed in 24 pediatric intensive care units (PICU) in Spain. Patients were analyzed in global and distributed by infecting species (for groups with ≥15 patients). A total of 125 ICI were included: 47 by C. albicans, 37 by C. parapsilosis, 19 by C. tropicalis, 4 C. glabrata, and 18 others. Up to 66% of ICI by C. albicans and 75.7% by C. parapsilosis occurred in children ≤24 months, while the percentage of children >60 months was higher in ICI by C. tropicalis. Bloodstream infection was most common among C. tropicalis (78.9%) or C. parapsilosis (83.8%) ICI, but urinary infections were almost as common as bloodstream infections among C. albicans ICI (31.9% and 38.3%, respectively). Fever refractory to antimicrobials was the most frequent host criterion (46.4% patients), but with equal frequency than prolonged neutropenia in C. tropicalis ICI. Thrombopenia was more frequent (p<0.05) in C. parapsilosis (60.7%) or C. tropicalis (66.7%) ICI than in C. albicans ICI (26.5%). Uremia was more frequent (p<0.05) in C. albicans (78.3%) or C. tropicalis (73.3%) than in C. parapsilosis ICI (40.7%). Multiple organ failure and heart insufficiency was higher in C. tropicalis ICI. Short duration (≤7 days) of PICU stay was more frequent in C. albicans ICI. Mortality rates were: 8.5% (C. albicans ICI), 13.5% (C. parapsilosis ICI) and 23.3% (C. tropicalis ICI) (Au)

Candida albicans es el agente más frecuentemente asociado con candidiasis invasiva, pero con un número creciente de casos causados por especies no-albicans. Se realizó un estudio epidemiológico observacional explorando criterios del huésped, características clínicas y mortalidad en 24 unidades de cuidados intensivos pediátricas en España. Se analizó a los pacientes en conjunto y distribuidos por la especie infectante (para aquellos grupos con ≥15 pacientes). Se incluyó un total de 125 candidiasis invasivas: 47 por C. albicans, 37 por C. parapsilosis, 19 por C. tropicalis, 4 por C. glabrata, y 18 casos por otras especies. Hasta un 66% de las candidiasis invasivas por C. albicans y un 75,7% de las causadas por C. parapsilosis ocurrieron en niños ≤24 meses, mientras que el porcentaje de niños con >60 meses fue mayor en el grupo de candidiasis invasiva por C. tropicalis. La candidemia fue la infección más frecuente en el grupo de infecciones por C. tropicalis (78,9%) o C. parapsilosis (83,8%), pero las infecciones del tracto urinario fueron tan frecuentes como la bacteremia entre las infecciones por C. albicans (31,9% y 38,3%, respectivamente). La fiebre refractaria a antimicrobianos fue el criterio de huésped más frecuente (46,4% pacientes), pero con igual frecuencia que la neutropenia prolongada en la candidiasis invasiva por C. tropicalis. La trombopenia fue más frecuente (p<0,05) en las infecciones por C. parapsilosis (60,7%) o C. tropicalis (66,7%) que en las producidas por C. albicans (26,5%). La uremia fue más frecuente (p<0,05) en las infecciones por C. albicans (78,3%) o C .tropicalis (73,3%) que en las producidas por C. parapsilosis (40,7%). El fallo multiorgánico y la insuficiencia cardiaca fueron más frecuentes en el grupo de infecciones por C. tropicalis. La estancia corta (≤7 días) en la unidad fue más frecuente en el caso de infecciones por C.albicans. Las tasas de mortalidad fueron: 8,5% (C. albicans), 13,5% (C. parapsilosis) y 23,3% (C. tropicalis). El análisis de la candidiasis invasiva por las distintas especies de Candida mostró perfiles clínicos diferentes y distintas tasas de mortalidad, haciendo esencial la identificación a nivel especie (AU)

[Spinal muscular atrophy-type I with respiratory distress]. / Atrofia muscular espinal tipo 1 con distres respiratorio.

TITLE: Atrofia muscular espinal tipo 1 con distres respiratorio.

Atrofia muscular espinal tipo 1 con distrés respiratorio / Spinal muscular atrophy-type I with respiratory distress

No dsponible

No dsponible

[Severe bronchiolitis. Epidemiology and clinical course of 284 patients]. / Bronquiolitis grave. Epidemiología y evolución de 284 pacientes.

INTRODUCTION: Bronchiolitis is the leading cause of hospital admission and a frequent cause of pediatric intensive care unit (PICU) admission among infants during the winter months. The objective of this study was to analyze the characteristics and clinical course of patients admitted to the PICU for bronchiolitis. PATIENTS AND METHOD: We performed a descriptive, observational study by clinical chart review of all patients admitted to the PICU for severe bronchiolitis from November 1994 to March 2006. RESULTS: A total of 284 patients were included. Most were admitted during December and January and 74% had respiratory syncytial virus (RSV) infection. At least one risk factor for severe disease was present in 68% of the patients: the most frequent risk factor was age < 6 weeks (45%), followed by prematurity (30%). Mechanical ventilation was required in 64 of the 284 patients (24%). Mortality was 1.8% and was associated with chronic pre-existing illness (p < 0.001). The factors associated with a greater risk of mechanical ventilation and a longer PICU stay were the association of two or more risk factors (42/284; 15%), the presence of apnea (73/284; 25.7%), and images of pulmonary consolidation or atelectasis on admission chest X-ray (157/284; 55%). CONCLUSIONS: Most patients admitted for severe bronchiolitis to the PICU are healthy infants whose principal risk factor is young age. The main predictors of severe clinical course during PICU stay are the association of two or more risk factors, the presence of apnea, and pulmonary consolidation on admission chest X-ray. Bronchiolitis-associated mortality is low and is associated with pre-existing chronic illness.

Cerebral salt wasting syndrome in children with acute central nervous system injury.

The purpose of this investigation was to describe the causes, clinical pattern, and treatment of cerebral salt wasting syndrome in children with acute central nervous system injury. This retrospective study focused on patients120 mEq/L), and volume depletion. Fourteen patients were identified with cerebral salt wasting syndrome, 12 after a neurosurgical procedure (8 brain tumor, 4 hydrocephalus) and 2 after severe brain trauma. In 11 patients the cerebral salt wasting syndrome was diagnosed during the first 48 hours of admission. Prevalence of cerebral salt wasting syndrome in neurosurgical children was 11.3/1000 surgical procedures. The minimum sodium was 122+/-7 mEq/L, the maximum urine osmolarity 644+/-59 mOsm/kgH2O. The maximum sodium supply was 1 mEq/kg/h (range, 0.1-2.4). The mean duration of cerebral salt wasting syndrome was 6+/-5 days (range 1-9). In conclusion, cerebral salt wasting syndrome can complicate the postoperative course of children with brain injury; it is frequently present after surgery for brain tumors and hydrocephalus and in patients with severe head trauma. Close monitoring of salt and fluid balance is essential to prevent severe neurologic and hemodynamic complications.

Microorganismos patógenos en la faringe de escolares sanos / Microorganism pathogen in the pharynx of normal school children

Se estudiaron 196 niños escolares, 96 estudiantes de un grupo educativo ubicado en la Urbanización Prados del Este, que representó al nivel socio-económico alto, y 100 de una Unidad Escolar ubicada en la Urbanización Prado de María, que representó el nivel socio-económico bajo. Se demostró la presencia de Streptococcus pyogenes en el 11,0% de los niños escolares de bajo nivel socio-económico y en el 2,1% de los niños de nivel alto. Este germen fue encontrado más frecuentemente en el grupo de 7 a 10. Haemophilus influenzae se demostró en el 9% de los niños de bajo nivel socio-económico y en el 3,1% de los niños de alto nivel. Este germen fue más frecuente en el grupo de 7 a 10 años. Streptococcus pneumoniae se aisló con mayor frecuencia en el grupo de bajo nivel socio-económico y las enterobacterias en el grupo de 7 a 10 años. Staphylococcus aureus fue más frecuente en los escolares de bajo nivel socio-económico y en el grupo de 11 a 14 años. La mayor incidencia de patógenos específicos en la flora normal de la faringe, en niños de bajo nivel socio-económico, parece depender del hacinamiento y las malas condiciones higiénicas que rodean a este grupo de niños