Life-threatening idiopathic intracranial hypertension: the role of venous sinus stenting.

BACKGROUND: Idiopathic intracranial hypertension (IIH) is a clinical syndrome characterised by raised intracranial pressure with no discernible aetiology. It is relatively rare in children and its demographic features may differ from those of adults. The relationship between IIH and venous sinus stenosis (VSS) is well known. As VSS plays an important role in the pathophysiology, treatments have been developed aimed at improving venous blood outflow in refractory IIH. In the last two decades, venous sinus stenting has emerged as a treatment option in cases where stenosis is documented. METHODS AND RESULTS: The scientific literature on paediatric cases of IIH and its treatment with venous sinus stenting was analysed. We present the case of a 6-year-old girl with a life-threatening presentation of IIH, who was treated with transverse sinus stenting and a lumboperitoneal shunt. We summarise the characteristic of paediatric stenting cases reported and review the literature focusing on the main aspects of venous sinus stenting. CONCLUSION: VSS stenting could be a treatment tool for the acute presentation of IIH with severe symptoms and VSS plus an elevated trans-stenotic pressure gradient. However, in some cases, additional surgical treatment may be necessary.

Broncoscopia flexible en pacientes postoperatorios de cardiopatías congénitas en UCI pediátrica / Flexible bronchoscopy in postoperative period in pediatric patients with congenital heart disease in a ICU

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Compassionate use of remdesivir in children with COVID-19.

Children represent a minority of total COVID-19 cases, but studies have reported severe disease and death in pediatric patients. Remdesivir (RDV) has recently demonstrated promising results in adults with COVID-19, but few data have been reported to date in children.A nationwide multicenter observational study was conducted on children with confirmed SARS-CoV-2 receiving compassionate treatment with RDV in Spain. Eight patients were included in the study, four infants and four older children [median age 5 years old; IQR 4 months-11.6 years old]. Half of them had complex underlying medical conditions, and the rest were mostly infants (3/4). Six out of eight children needed Pediatric Intensive Care Unit Admission. No RDV-related adverse outcomes were observed in our patients. Seven have reached successful clinical outcome, but one patient with serious clinical status died due to complications. However, she received RDV very late after the first COVID-19 symptom.Conclusions: In our cohort, most of the patients achieved successful clinical outcome, without observing adverse events. Clinical trials of RDV therapy for children with COVID-19 are urgently needed, to assess the safety, tolerability, efficacy, and pharmacokinetics of RDV in children, as this could be an effective treatment in severe cases. What is Known: • Remdesivir has not been approved to treat COVID-19 in children under 12 years old, although the drug is currently being prescribed in critically ill children. • Remdesivir has recently demonstrated promising results in adults with COVID-19, but few data have been reported to date in paediatric population. What is New: • We report a multicentre cohort of children with confirmed SARS-CoV-2 and severe COVID-19 disease receiving remdesivir during the first month of the pandemic in Spain. • No remdesivir-related adverse outcomes were observed in most of the cases. Seven patients reached successful clinical outcome, and one died due to complications (bacterial sepsis).

X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature.

Severe combined immunodeficiency is an inherited disease with profoundly defective T cells, B cells, and natural killer cells. X-linked severe combined immunodeficiency is the most common form. In this report, we describe a 4-month-old male infant who was admitted to our hospital with progressive breathlessness and abdominal mass. He was diagnosed with hepatoblastoma and presented a pneumocystis jirovecii pneumonia at the beginning of chemotherapy. Definitive diagnosis of X-linked severe combined immunodeficiency was established by DNA analysis of the interleukin 2 receptor gamma chain gene. This case is the first report which describes an X-linked severe combined immunodeficiency patient with hepatoblastoma.

Déficit de vitamina D y morbimortalidad en pacientes críticos pediátricos / Vitamin D deficiency and morbimortality in critically ill paediatric patients

Objetivos: Determinar la prevalencia y factores de riesgo del déficit de vitamina D (VDD) en una unidad de cuidados intensivos pediátricos (UCIP), así como su relación con la morbimortalidad durante el ingreso. Material y métodos: Estudio observacional prospectivo realizado en la UCIP de un hospital terciario en 2 fases: I: estudio de cohortes, y II: estudio de prevalencia. Se incluyó a 340 niños > 6 meses, excluyendo a aquellos con enfermedad renal crónica, trastornos paratiroideos y suplementación con vitamina D. Se realizó medición de 25-hidroxivitamina D total (25[OH]D) en las primeras 48 h del ingreso, parathormona (PTH), calcio, fósforo, gasometría venosa, hemograma, proteína C reactiva y procalcitonina. Se registraron datos sociodemográficos, características del episodio y complicaciones. Resultados: La prevalencia de VDD (< 20ng/ml) fue del 43,8%, con media de 22,28 (IC del 95%, 21,15-23,41) ng/ml. Los pacientes con déficit fueron de mayor edad (61 vs. 47 meses, p = 0,039), sus padres tenían un mayor nivel académico (36,5% vs. 20%, p = 0,016), ingresaron más frecuentemente en invierno y primavera, obtuvieron mayor puntuación PRISM-III (6,8 vs. 5,1, p = 0,037), mayor estancia (3 vs. 2 días, p = 0,001) y morbilidad (61,1% vs. 30,4%, p<0,001) que los pacientes con niveles suficientes (≥ 20ng/ml). Los pacientes fallecidos tuvieron niveles inferiores de 25(OH)D (14 ± 8,81ng/ml vs. 22,53 ± 10,53ng/ml, p = 0,012). La OR ajustada para la morbilidad fue 5,44 (IC del 95%, 2,5-11,6). Conclusiones: El VDD es frecuente en pacientes críticos pediátricos y está relacionado con la morbimortalidad en UCIP, aunque queda por esclarecer si se trata de una relación causal o es simplemente un marcador de gravedad en diferentes situaciones clínicas (AU)

Objectives: To determine the prevalence and risks factors of vitamin D deficiency, as well as its relationship with morbidity and mortality in a PICU. Material and methods An observational prospective study in a tertiary children's University Hospital PICU conducted in two phases: I: cohorts study, and II: prevalence study. The study included 340 critically ill children with ages comprising 6 months to 16 years old. Exclusion criteria: Chronic kidney disease, known parathyroid disorders, and vitamin D supplementation. Total 25-hydroxyvitamin D [25(OH)D] was measured in the first 48 hours of admission to a PICU. Parathormone, calcium, phosphate, blood gases, blood count, C-reactive protein, and procalcitonin were also analysed. A record was also made of demographic features, characteristics of the episode, and complications during the PICU stay. Results: The overall prevalence rate of vitamin D deficiency was 43.8%, with a mean of 22.28 (95% CI 21.15-23.41) ng/ml. Patients with vitamin D deficiency were older (61 vs 47 months, P=.039), had parents with a higher level of academic studies (36.5% vs 20%, P=.016), were admitted more often in winter and spring, had a higher PRISM-III (6.8 vs 5.1, P=.037), a longer PICU stay (3 vs 2 days, P=.001), and higher morbidity (61.1% vs 30.4%, P< 001) than the patients with sufficient levels of 25(OH)D. Patients who died had lower levels of 25(OH)D (14 ± 8.81ng/ml versus 22.53 ± 10.53ng/ml, P=.012). Adjusted OR for morbidity was 5.44 (95%CI; 2.5-11.6). Conclusions: Vitamin D deficiency is frequent in critically ill children, and it is related to both morbidity and mortality, although it remains unclear whether it is a causal relationship or it is simply a marker of severity in different clinical situations (AU)

[Vitamin D deficiency and morbimortality in critically ill paediatric patients]. / Déficit de vitamina D y morbimortalidad en pacientes críticos pediátricos.

OBJECTIVES: To determine the prevalence and risks factors of vitamin D deficiency, as well as its relationship with morbidity and mortality in a PICU. MATERIAL AND METHODS: An observational prospective study in a tertiary children's University Hospital PICU conducted in two phases: i: cohorts study, and ii: prevalence study. The study included 340 critically ill children with ages comprising 6 months to 16 years old. EXCLUSION CRITERIA: Chronic kidney disease, known parathyroid disorders, and vitamin D supplementation. Total 25-hydroxyvitamin D [25(OH)D] was measured in the first 48hours of admission to a PICU. Parathormone, calcium, phosphate, blood gases, blood count, C-reactive protein, and procalcitonin were also analysed. A record was also made of demographic features, characteristics of the episode, and complications during the PICU stay. RESULTS: The overall prevalence rate of vitamin D deficiency was 43.8%, with a mean of 22.28 (95% CI 21.15-23.41) ng/ml. Patients with vitamin D deficiency were older (61 vs 47 months, P=.039), had parents with a higher level of academic studies (36.5% vs 20%, P=.016), were admitted more often in winter and spring, had a higher PRISM-III (6.8 vs 5.1, P=.037), a longer PICU stay (3 vs 2 days, P=.001), and higher morbidity (61.1% vs 30.4%, P<001) than the patients with sufficient levels of 25(OH)D. Patients who died had lower levels of 25(OH)D (14±8.81ng/ml versus 22.53±10.53ng/ml, P=.012). Adjusted OR for morbidity was 5.44 (95%CI; 2.5-11.6). CONCLUSIONS: Vitamin D deficiency is frequent in critically ill children, and it is related to both morbidity and mortality, although it remains unclear whether it is a causal relationship or it is simply a marker of severity in different clinical situations.

[Embryology and genetics of primary vesicoureteral reflux and associated renal dysplasia]. / Embriología y genética del reflujo vesicoureteral primario y de la displasia renal asociada.

OBJECTIVES: The main reasons of this review are: To determine some of the embryological and genetic mechanisms of vesicoureteral reflux (VUR) and associated congenital reflux nephropathy (NR); recognize different patterns of familiar clustering and identify appropriate cases where genetic counselling and investigations might be indicated; and finally, to establish the association of these phenomena (VUR and NR). METHODS: Bibliographic search of related articles until June 2007. RESULTS: There are two kinds of primary VUR: isolated VUR and syndromic VUR; the last one has an inherited Mendelian transmission and we know the mechanisms. Epidemiological studies seem to demonstrate that isolated VUR also presents familiar clustering and its inheritance pattern is the main object of interest in some studies; most authors support the hypothesis that VUR is genetically heterogeneous and is caused by a number of different genes acting with random environmental effects. There are lots of candidate implicated genes. The characteristics of VUR (incomplete penetrance, variability of expression, spontaneous resolution...) make difficult to configure a selection of patients subsidiary of genetic study. Despite different treatment options, the incidence of renal chronic failure secondary to VUR has not decreased. Some of the candidate genes identified regulate the position of ureteral budding, a critical step in both kidney and urinary tract development. Analysis of data from humans and mice suggests that some of the renal damage associated with VUR is congenital and is due to a kidney malformation. Therefore, in these cases, the association of VUR and renal failure may be caused by a genetic defect affecting the formation of the kidney and the urinary tract and not by evolution of VUR. Investigation in animals is fundamental to know more about this issue (candidate genes and VUR-NR association). CONCLUSION: It is important to learn patterns of familiar clustering of isolated and syndromic VUR to offer genetic counselling if possible. For this reason, we should be screening carefully all patients suffering from VUR. It is known that limitations in actual indications of genetic study exist. Prenatal diagnosis may be realized if there is a syndromic VUR with known mutation, invariable expressivity or if clinical manifestations involve risk of death. Epidemiological data and laboratory studies may give us guidance to elicit new cases of nephropathy associated to severe VUR.

Embriología y genética del reflujo vesicoureteral primario y de la displasia renal asociada / Embryology and genetics of primary vesicoureteral reflux and associated renal dysplasia

Objetivo: Realizar una aproximación a la embriología y genética del reflujo vesicoureteral (RVU) y de la nefropatía de reflujo (NR). Reconocer los patrones de asociación familiar del RVU y tratar de ver en qué casos se deberían considerar estudios genéticos a estos pacientes y, en tal caso, qué tipo de estudios. Por último, estudiar qué tipo de asociación presentan estos dos fenómenos (RVU y NR). Métodos: Revisión bibliográfica de artículos relacionados hasta junio de 2007. Resultados: Se reconocen dos tipos de RVU primario según la presentación: aislado y sindrómico; de este último se conocen sus mecanismos de transmisión y sigue patrones de herencia mendeliana. Los estudios epidemiológicos ponen de manifiesto que el RVU aislado también presenta asociación familiar, y es objeto de estudio el patrón de herencia del mismo; la mayoría de los autores sostienen la idea de que se trata de un fenómeno genéticamente heterogéneo en el que interactúan diferentes genes y efectos medioambientales. Son múltiples los genes candidatos implicados. Las características del RVU (expresividad y penetrancia variables, resolución espontánea) hacen difícil seleccionar aquellos pacientes subsidiarios de estudio genético. A pesar del tratamiento del RVU, la incidencia de fallo renal crónico secundario al mismo no ha descendido. Algunos de los genes candidatos en estudio para el RVU se han identificado como reguladores de la embriogénesis de la yema ureteral, paso clave para el desarrollo del riñón y tracto urinario. Análisis en ratones y humanos sugieren que parte del daño renal asociado al RVU es congénito y debido a una malformación congénita; por lo que la asociación entre RVU y fallo renal puede deberse a un defecto genético del desarrollo y no a la mala evolución del paciente con RVU. La investigación en animales es un paso clave para profundizar en los conocimientos en este tema (genes candidatos y asociación de RVU con NR). Conclusiones: Es importante conocer los patrones de asociación familiar del RVU (aislado y sindrómico) para dar consejo genético cuando sea posible. Por ello, en todo paciente con RVU, son necesarias una anamnesis y exploración específicas y dirigidas. La indicación actual de estudio genético tiene limitaciones. Se realizará diagnóstico prenatal si existe RVU sindrómico con mutación conocida, expresividad fija y penetrancia completa o si las manifestaciones conllevan riesgo vital. Los datos epidemiológicos y estudios de laboratorio nos orientan a la posibilidad de nefropatía congénita asociada en casos de RVU grave (AU)

Objectives: The main reasons of this review are: To determine some of the embryological and genetic mechanisms of vesicoureteral reflux (VUR) and associated congenital reflux nephropathy (NR); recognize different patterns of familiar clustering and identify appropriate cases where genetic counselling and investigations might be indicated; and finally, to establish the association of these phenomena (VUR and NR). Methods: Bibliographic search of related articles until June 2007. Results: There are two kinds of primary VUR: isolated VUR and syndromic VUR; the last one has an inherited Mendelian transmission and we know the mechanisms. Epidemiological studies seem to demonstrate that isolated VUR also presents familiar clustering and its inheritance pattern is the main object of interest in some studies; most authors support the hypothesis that VUR is genetically heterogeneous and is caused by a number of different genes acting with random environmental effects. There are lots of candidate implicated genes. The characteristics of VUR (incomplete penetrance, variability of expression, spontaneous resolution…) make difficult to configure a selection of patients subsidiary of genetic study. Despite different treatment options, the incidence of renal chronic failure secondary to VUR has not decreased. Some of the candidate genes identified regulate the position of ureteral budding, a critical step in both kidney and urinary tract development. Analysis of data from humans and mice suggests that some of the renal damage associated with VUR is congenital and is due to a kidney malformation. Therefore, in these cases, the association of VUR and renal failure may be caused by a genetic defect affecting the formation of the kidney and the urinary tract and not by evolution of VUR. Investigation in animals is fundamental to know more about this issue (candidate genes and VUR-NR association). Conclusion: It is important to learn patterns of familiar clustering of isolated and syndromic VUR to offer genetic counselling if possible. For this reason, we should be screening carefully all patients suffering from VUR. It is known that limitations in actual indications of genetic study exist. Prenatal diagnosis may be realized if there is a syndromic VUR with known mutation, invariable expressivity or if clinical manifestations involve risk of death. Epidemiological data and laboratory studies may give us guidance to elicit new cases of nephropathy associated to severe VUR (AU)