Dolores Elorza

Hospital Universitario La Paz

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Jesús Pérez

Hospital de Sant Pau

Ana Sánchez

Hospital Universitario La Paz

Máximo Vento

Leitat Technological Center

María Palomares

Hospital Universitario La Paz

Martín Iriondo

Hospital Sant Joan de Déu Barcelona

E. Salguero

Universidad Independiente

Edgardo Szyld

Indiana University – Purdue University Indianapolis

Laura Moreno

Universidad Complutense de Madrid

María Jesús del Cerro

Hospital Universitario Ramón y Cajal

L Martínez

Hospital Universitario La Paz

Cooperative Institutions

Hospital Universitario La Paz

197

Universidad Autónoma de Madrid

171

Instituto de Salud Carlos III

Centre for Biomedical Network Research on Rare Diseases

Centro de Investigación Biomédica en Red

Instituto de Investigación de Enfermedades Raras

Hospital La Paz Institute for Health Research

Hospital Materno-Infantil

Hospital Sant Joan de Déu Barcelona

Vall d'Hebron Hospital Universitari

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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical Genetics (2005)

Luís Fernández Pablo Lapunzina Dolores Arjona I. López Pajares Luis García‐Guereta

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation‐dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high‐throughput method for the diagnosis of 22q11.2 deletion syndrome.

DiGeorge syndrome

Breakpoint

Multiplex

Deletion syndrome

10.1111/j.1399-0004.2005.00493.x

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Citations (92)

AN OVERVIEW OF PERITONEAL DIALYSIS MANAGEMENT IN NEWBORNS DURING A PERIOD OF 10 YEARS

Archives of Disease in Childhood (2008)

Laura Sánchez Marta Cabrera A M Sanchez-Torres Dolores Elorza J. M. Perez

Introduction The incidence of acute renal failure (ARF) in neonates ranges from 8 to 24%. Peritoneal dialysis (PD) is a replacement therapy used in the neonatal intensive care unit (NICU) in some cases of ARF. Objectives To assess indications, methodology and most important complications of PD in newborns. Materials and Methods Review of medical charts of 39 dialysed newborns, between 1997 and 2007 admitted to a NICU with cardiac surgery. Results 85% were neonates with cardiac diseases, 5% with inborn errors of metabolism, 10% with other aetiologies. Gestational age and weight ranged from 24 to 36.5 weeks and 700 to 2520 g. Dialysis catheter (Arrow 8F) was inserted at the bedside by the neonatology staff, without complications. Initial mean volume hourly amounts were 15 ml/kg of 1.5% glucose dialysate. Increases in volume, mean 19 ml/kg (10–38 ml/kg) and glucose concentration, mean 3.1% were used to get the objectives. Higher ultrafiltrate volume was 6 ml/kg per hour. Indications for PD in congenital heart diseases were: 67% severe oliguria, 16% anuria, 13% hypervolaemia and 6% others. PD was stated at 14 h after surgery bypass and mean duration was 4 days (0.5–23 days). Complications appeared in 20/34 and were: 50% obstruction, 23% fluid loss, 15% hyperglycaemia, 8% peritonitis and 4% others. Catheter replacement was needed in 15 patients. Conclusions PD for ARF in newborns is an easy bedside technique, short-term extrarrenal replacement therapy, with few complications. Special usefulness is seen in cardiac patients after bypass surgery.

Anuria

Oliguria

Renal replacement therapy

Neonatology

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Ventilación mecánica neonatal

Anales de Pediatría Continuada (2009)

Dolores Elorza Ana Sánchez Jesús Pérez

10.1016/s1696-2818(09)70445-7

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Exploring clinical, echocardiographic and molecular biomarkers to predict bronchopulmonary dysplasia

PLoS ONE (2019)

María Álvarez-Fuente Laura Moreno Paloma López‐Ortego Luis Arruza Alejandro Ávila-Álvarez

Introduction Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in childhood, related to prematurity, and the most common cause of pulmonary hypertension (PH) secondary to pulmonary disease in children. Moderate and severe BPD have a worse outcome and relate more frequently with PH. The prediction of moderate or severe BPD development in extremely premature newborns is vital to implement preventive strategies. Starting with the hypothesis that molecular biomarkers were better than clinical and echocardiographic factors, this study aims to explore the ability of clinical, echocardiographic and analytical variables to predict moderate or severe BPD in a cohort of extremely preterm infants. Patients and methods We designed a prospective longitudinal study, in which we followed a cohort of preterm newborns (gestational age <28 weeks and weight ≤ 1250 grams). In these newborns we recorded weekly clinical and echocardiographic variables as well as blood and tracheal aspirate samples, to analyze molecular biomarkers (IL-6, IL-1, IP10, uric acid, HGF, endothelin-1, VEGF, CCL5). Variables and samples were collected since birth up to week 36 (postmenstrual age), time-point at which the diagnosis of BPD is established. Results We included 50 patients with a median gestational age of 26 weeks (IQR 25–27) and weight of 871 g (SD 161,0) (range 590-1200g). Three patients were excluded due to an early death. Thirty-five patients (74.5%) developed BPD (mild n = 14, moderate n = 15, severe n = 6). We performed a logistic regression in order to identify risk factors for moderate or severe BPD. We compared two predictive models, one with two variables (mechanical ventilation and inter-ventricular septum flattening), and another-one with an additional molecular biomarker (ET-1). Conclusions The combination of clinical and echocardiographic variables is a valuable tool for determining the risk of BPD. We find the two variable model (mechanical ventilation and echocardiographic signs of PH) more practical for clinical and research purposes. Future research on BPD prediction should be oriented to explore the potential role of ET-1.

Bronchopulmonary Dysplasia

10.1371/journal.pone.0213210

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Citations (31)

[Changes in the international recommendations on neonatal resuscitation, 2010: comments].

PubMed (2011)

Martín Iriondo Edgardo Szyld Máximo Vento E Burón E. Salguero

Cord clamping

Neonatal Resuscitation

Neonatology

10.1016/j.anpedi.2011.04.005

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Citations (7)

Dopamine Versus Epinephrine for Cardiovascular Support in Low Birth Weight Infants: Analysis of Systemic Effects and Neonatal Clinical Outcomes

PEDIATRICS (2006)

Eva Valverde Adelina Pellicer Rosário Madero Dolores Elorza J Quero

Early postnatal adaptation to transitional circulation in low birth weight infants frequently is associated with low blood pressure and decreased blood flow to organs. Catecholamines have been used widely as treatment, despite remarkably little empirical evidence on the effects of vasopressor/inotropic support on circulation and on clinically important outcomes in sick newborn infants.To explore the effectiveness of low/moderate-dose dopamine and epinephrine in the treatment of early systemic hypotension in low birth weight infants, evaluate the frequency of adverse drug effects, and examine neonatal clinical outcomes of patients in relation to treatment.Newborns of <1501-g birth weight or <32 weeks of gestational age, with a mean blood pressure lower than gestational age in the first 24 hours of life, were assigned randomly to receive dopamine (2.5, 5, 7.5, and 10 microg/kg per minute; n = 28) or epinephrine (0.125, 0.250, 0.375, and 0.5 microg/kg per minute; n = 32) at doses that were increased stepwise every 20 minutes until optimal mean blood pressure was attained and maintained (responders). If this treatment was unsuccessful (nonresponders), sequential rescue therapy was started, consisting first of the addition of the second study drug and then hydrocortisone.These included: (1) short-term changes (first 96 hours, only responders) in heart rate, mean blood pressure, acid-base status, lactate, glycemia, urine output, and fluid-carbohydrate debit; and (2) medium-term morbidity, enteral nutrition tolerance, gastrointestinal complications, severity of lung disease, patent ductus arteriosus, cerebral ultrasound diagnoses, retinopathy of prematurity, and mortality.Patients enrolled in this trial did not differ in birth weight or gestational age (1008 +/- 286 g and 28.3 +/- 2.3 weeks in the dopamine group; 944 +/- 281 g and 27.7 +/- 2.4 weeks in the epinephrine group). Other main antenatal variables were also comparable. However, responders and nonresponders differed significantly with respect to the need for cardiorespiratory resuscitation at birth (3% vs 23%), Critical Risk Index for Babies score (3.8 +/- 3 vs 7 +/- 5), and premature rupture of membranes >24 hours (39.5% vs 13.6%), respectively. No differences were found in the rate of treatment failure (dopamine: 36%; epinephrine: 37%) or need for rescue therapy according to treatment allocation. Groups did not differ in age at initiation of therapy (dopamine: 5.3 +/- 3.9 hours; epinephrine: 5.2 +/- 3.3 hours), but withdrawal was significantly later in the dopamine group. For short-term changes, mean blood pressure showed a significant increase from baseline throughout the first 96 hours with no differences between groups. However, epinephrine produced a greater increase in heart rate than dopamine. After treatment began, epinephrine patients showed higher plasma lactate (first 36 hours) and lower bicarbonate and base excess (first 6 hours) and received more bicarbonate. Patients in the epinephrine group also had higher glycemia (first 24 hours) and needed insulin therapy more often. Groups did not differ in urine output or fluid-carbohydrate supply during the first 96 hours. For medium-term morbidity, there were no differences in neonatal clinical outcomes in responders. However, significant differences were found in the incidence of patent ductus arteriosus, bronchopulmonary dysplasia, need for high-frequency ventilation, occurrence of necrotizing enterocolitis, and death between responders and nonresponders.Low/moderate-dose epinephrine is as effective as low/moderate-dose dopamine for the treatment of hypotension in low birth weight infants, although it is associated with more transitory adverse effects.

10.1542/peds.2005-2108

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Citations (128)

Clinical presentation and therapeutic management of venous thrombosis in young children: a retrospective analysis

Thrombosis Journal (2018)

Anthony K.C. Chan Anthonie W.A. Lensing Dagmar Kubitza G.W. Brown Dolores Elorza

Venous thromboembolism (VTE) in young children is not well documented.Clinicians from 12 institutions retrospectively evaluated the presentation, therapeutic management, and outcome of VTE in children younger than 2 years seen in 2011-2016. Feasibility of recruiting these children in EINSTEIN-Jr. phase III, a randomized trial evaluating rivaroxaban versus standard anticoagulation for VTE, was assessed.We identified 346 children with VTE, of whom 227 (65.6%) had central venous catheter-related thrombosis (CVC-VTE), 119 (34.4%) had non-CVC-VTE, and 156 (45.1%) were younger than 1 month. Of the 309 children who received anticoagulant therapy, 86 (27.8%) had a short duration of therapy (i.e. < 6 weeks for CVC-VTE and < 3 months for non-CVC-VTE) and 17 (5.5%) had recurrent VTE during anticoagulation (n = 8, 2.6%) or shortly after its discontinuation (n = 9, 2.9%). A total of 37 (10.7%) children did not receive anticoagulant therapy and 4 (10.5%) had recurrent VTE.The average number of children aged < 0.5 years and 0.5-2 years who would have been considered for enrolment in EINSTEIN-Jr is approximately 1.0 and 0.9 per year per site, respectively.Young children with VTE most commonly have CVC-VTE and approximately one-tenth and one-fourth received no or only short durations of anticoagulant therapy, respectively. Recurrent VTE rates without anticoagulation, during anticoagulation or shortly after its discontinuation seem comparable to those observed in adults. Short and flexible treatment durations could potentially increase recruitment in EINSTEIN-Jr. phase III.

Discontinuation

Angiology

10.1186/s12959-018-0182-4

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Citations (15)

Adaptación de las recomendaciones internacionales sobre reanimación neonatal 2010: comentarios

Anales de Pediatría (2011)

Martín Iriondo Edgardo Szyld Máximo Vento E Burón E. Salguero

10.1016/j.anpedi.2011.04.005

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Citations (13)

Protocolo de ventilación no invasiva neonatal: cuidado al recomendar presiones demasiado bajas