Pain and heart rate variability in neonates receiving dexmedetomidine.

INTRODUCTION: Neonates in a NICU experience pain. Based on the cardiovascular and nociceptive systems link, a Newborn Infant Parasympathetic Evaluation (NIPE) monitor was designed to assess pain. The use of α2-agonists as analgesic-sedative drugs has increased in neonates. Given their effect on the autonomic system, we hypothesized that their use may alter NIPE's measurement capacity. METHODS: Data were prospectively collected. The included patients were evaluated using combined pain assessment systems. RESULTS: Sixteen newborns requiring sedoanalgesia underwent a total of 84 pain assessments. A good correlation was found between the NIPE-index and the COMFORT-neo and the crSO2 (cerebral regional oxygen saturation). No correlation was found in premature infants. By sedation group, the correlation remained in those receiving α2-agonist. CONCLUSION: NIPE is a reliable tool for pain assessment. Further studies in premature infants are needed. The use of α2-agonist does not alter the measuring capacity of NIPE. The correlation between NIPE-index and crSO2 was also demonstrated.

Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population.

CONTEXT.­: Interpretation of alkaline phosphatase (ALP) activity is essential for the diagnosis of certain diseases. ALP changes during life and may vary between different populations. OBJECTIVE.­: To establish reference intervals (RIs) and percentile charts for ALP activity in the Spanish population through a multicentric observational study and to compare the RIs to those defined in other countries. DESIGN.­: A total of 662 350 ALP measurements from individuals ages 0 to 99 years from 9 Spanish tertiary care centers collected between 2020 and 2022 were analyzed. This study is the largest published in the literature to date. RESULTS.­: Continuous percentile charts for ALP according to sex and age were established which can be used as RIs. Higher levels are reached during the first weeks of life. In puberty, a differential evolution is observed in both sexes, reaching a peak at 10 to 13 years of age in boys and remaining stable in girls at this age. Significant differences were also observed in adults, higher in men between ages 20 and 49 years and between ages 50 and 79 years in women, as reported in some countries. CONCLUSIONS.­: ALP activity follows an age- and sex-dependent fluctuation with geographic differences. It is important to have appropriate reference values for each population in order to allow for a correct diagnostic interpretation and early diagnosis of diseases related to ALP abnormalities.

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence.

Supplementation is crucial for improving performance and health in phenylketonuria (PKU) patients, who face dietary challenges. Proteins are vital for athletes, supporting muscle growth, minimizing catabolism, and aiding muscle repair and glycogen replenishment post-exercise. However, PKU individuals must limit phenylalanine (Phe) intake, requiring supplementation with Phe-free amino acids or glycomacropeptides. Tailored to meet nutritional needs, these substitutes lack Phe but fulfill protein requirements. Due to limited supplement availability, athletes with PKU may need higher protein intake. Various factors affect tolerated Phe levels, including supplement quantity and age. Adhering to supplement regimens optimizes performance and addresses PKU challenges. Strategically-timed protein substitutes can safely enhance muscle synthesis and sports performance. Individualized intake is essential for optimal outcomes, recognizing proteins' multifaceted role. Here, we explore protein substitute supplementation in PKU patients within the context of physical activity, considering limited evidence.

Infecciones relacionadas con la asistencia sanitaria en neonatología / Health care-associated infections in neonatology

Las infecciones relacionadas con la asistencia sanitaria (IRAS) son frecuentes en neonatología, pero no existe un consenso en sus definiciones. Esto dificulta la comparación de incidencias entre distintas unidades o la valoración de la eficacia de los paquetes de prevención. Por ello, es que consideramos muy importante lograr un acuerdo en las definiciones y diagnóstico de una de las morbilidades más recurrentes de los neonatos hospitalizados. El presente documento pretende unificar estas definiciones en relación con las infecciones más comunes como son la bacteriemia relacionada con el catéter (BRC), la neumonía vinculada a la ventilación mecánica (NAV) y la infección de la herida quirúrgica (IHQ), así como su abordaje diagnóstico-terapéutico.(AU)

Health care-associated infections are common in neonatology, but there is no consensus on their definitions. This makes it difficult to compare their incidence or assess the effectiveness of prevention bundles. This is why we think it is very important to achieve a consensus on the definitions and diagnostic criteria for one of the most frequent causes of morbidity in hospitalised neonates. This document aims to standardise the definitions for the most frequent health care-associated infections, such as catheter-associated bloodstream infection, ventilator-associated pneumonia and surgical wound infection, as well as the approach to their diagnosis and treatment.(AU)

Health care-associated infections in neonatology.

Health care-associated infections are common in neonatology, but there is no consensus on their definitions. This makes it difficult to compare their incidence or assess the effectiveness of prevention bundles. This is why we think it is very important to achieve a consensus on the definitions and diagnostic criteria for one of the most frequent causes of morbidity in hospitalised neonates. This document aims to standardise the definitions for the most frequent health care-associated infections, such as catheter-associated bloodstream infection, ventilator-associated pneumonia and surgical wound infection, as well as the approach to their diagnosis and treatment.

Cuidados paliativos perinatales / Perinatal palliative care

Los cuidados paliativos perinatales son una forma de atención clínica diseñada para anticipar, prevenir y tratar el sufrimiento físico, psicológico, social y espiritual de los fetos y recién nacidos con enfermedades limitantes o amenazantes de la vida, que se extiende a sus familias. Se trata de una atención interdisciplinaria y coordinada que busca ofrecer la mejor calidad de vida posible, desde el diagnóstico (muchas veces intraútero) hasta el fallecimiento y el duelo (días, meses o años después). Los cuidados paliativos perinatales constituyen una prestación de salud básica dirigida a una población particularmente vulnerable. Para garantizar el acceso a una atención de calidad es esencial desarrollar programas estructurados y protocolos clínicos en todos los hospitales terciarios que atienden patología obstétrica y neonatal de alta complejidad. Se requiere también una formación básica de todos los profesionales implicados.(AU)

Perinatal palliative care is a model of care designed to prevent and treat the physical, spiritual, emotional, and social needs of fetuses and newborn infants with life-threatening or life-limiting conditions. The care extends to the infant's family. It is delivered by an interdisciplinary team to improve the quality of life from the time of diagnosis (possibly in utero) into death and bereavement (days, months, or years later). To guarantee the access of this vulnerable population to high quality palliative care, structured programs and protocols need to be further developed in tertiary hospitals that treat highly complex obstetric and neonatal pathologies. Basic training is required for all the professionals involved.(AU)

Prevención, diagnóstico y tratamiento de la enterocolitis necrosante en recién nacidos menores de 32 semanas al nacimiento en España / Prevention, diagnosis and treatment of necrotising enterocolitis in newborns less than 32 weeks at birth in Spain

OBJETIVO: Describir la prevención, diagnóstico y tratamiento de la enterocolitis necrosante en hospitales españoles e identificar puntos fuertes, áreas de mejora y líneas de investigación pendientes. MÉTODOS: Se realizaron 2 encuestas sobre manejo de pacientes en riesgo o diagnóstico de enterocolitis necrosante en recién nacidos pretérmino menores de 32 semanas, distribuidas entre representantes de los cirujanos pediátricos y neonatólogos de los centros participantes en la red española SEN 1500 con Servicio de Cirugía Pediátrica. RESULTADOS: El porcentaje de respuestas fue del 77,1% y del 88,6% entre los cirujanos y neonatólogos contactados, respectivamente. El 52% de los hospitales dispone de un protocolo de diagnóstico y manejo médico de la enterocolitis y el 33% uno sobre tratamiento quirúrgico. El acceso a leche de banco y disponer de personal dedicado a la promoción de la lactancia materna es común (87%), por el contrario, la ligadura tardía de cordón solo se realiza en el 52% de los centros y en un 23% se administran probióticos. La ecografía abdominal está cada vez más extendida. No hay grandes diferencias en cuanto a la duración de los antibióticos y del reposo intestinal, pero sí en cuanto a los antibióticos seleccionados, la indicación quirúrgica y el tipo de intervención. CONCLUSIONES: La implementación de la ligadura tardía de cordón y la extensión del acceso a leche de banco son áreas de mejora en el aspecto preventivo. En cuanto al diagnóstico y tratamiento existe una gran división que afecta precisamente a las áreas donde la evidencia en la literatura es menor

OBJECTIVES: To describe preventive, diagnostic and therapeutic strategies regarding necrotising enterocolitis in Spain and to identify the strengths, areas of further improvement, and future research lines. METHODS: Two questionnaires on the management of preterm infants less than 32 weeks, at risk of, or with diagnosed necrotising enterocolitis, were distributed among selected representatives of the surgeons and neonatologists of the Spanish Neonatal Network (SEN1500) participant hospitals with a Paediatric Surgery Department. RESULTS: Percentage of response was 77.1% of contacted surgeons and 88.6% of neonatologists. There is a written protocol on the diagnosis and medical management of necrotising enterocolitis in 52% of the hospitals, and as regards surgical treatment in 33%. There is wide access to donor bank milk and to staff dedicated to breastfeeding promotion (87%). On the contrary, only 52% of the centres perform delayed cord clamping, and probiotics are used in just 23%. The use of abdominal ultrasound is increasing. There are no large differences as regards duration of antibiotic use and bowel rest, whereas there was as regards antibiotic selection, surgical indication, and type of intervention. CONCLUSIONS: As regards prevention, delayed cord clamping and extended access to donor milk are two possible aspects of further improvement. The observed discrepancies noted in diagnostic and therapeutic aspects are common in precisely the areas where evidence in the literature is weakest

Situación actual del cribado neonatal de enfermedades metabólicas en España y en el mundo / Newborn screening for metabolic disorders in Spain and worldwide

Los programas de cribado neonatal son clave en las estrategias de salud pública de una región determinada, establecidas para prevenir los daños asociados a las enfermedades cribadas. Su importancia se ha intensificado sustancialmente en los últimos años debido al creciente número de trastornos en los que diferentes organismos de evaluación han demostrado el beneficio de su detección temprana para el recién nacido. Desde los años 60-70 del siglo pasado, muchas regiones implementaron programas de cribado neonatal que hoy en día, al menos en los países desarrollados, son universales, bien establecidos y con excelentes resultados. Sin embargo, aún queda mucho por hacer, principalmente en países en vías de desarrollo de África, Asia y América del Sur. En algunos países europeos, incluida España, la uniformidad entre los paneles de cribado de las diferentes regiones continúa siendo un reto, pues es fuente de desigualdades en materia de salud. Los autores presentan el estado actual de los programas de cribado neonatal en España y lo contextualizan en el escenario real europeo y mundial

Newborn screening programs are key players in a country's public health strategies, preventing the burden of care associated with the screened disorders. Its importance has dramatically intensified in recent years due to the increasing number of disorders that fulfil criteria for screening. Since the 1960's, many countries implemented newborn screening programs that are now, at least in developed countries, universal, well established, and with excellent results. Nevertheless, much work is still to be done, mainly in developing countries of Africa, Asia, and South America. In some European countries, including Spain, uniformity of screening panels between different regions is still a challenge, being a source of health inequalities between citizens. The authors will present the current status of newborn screening programs in Spain and integrate it into the current European and world scenario

Cincuenta años de cribado neonatal de enfermedades congénitas en España / Fifty years of neonatal screening for congenital diseases in Spain

No disponible

Taquicardia supraventricular en recién nacidos y su asociación con reflujo gastroesofágico / Supraventricular tachycardia in newborns and its association with gastroesophageal reflux disease

Introducción: La taquicardia supraventricular (TSV) es la arritmia más común en el periodo neonatal, sin embargo, su asociación con otros procesos desencadenantes no está bien establecida. El objetivo de este estudio es analizar la posible relación entre TSV neonatal y el reflujo gastroesofágico (RGE), por ser una dolencia relacionada recientemente con las arritmias auriculares. Material y métodos: Se realizó un estudio descriptivo longitudinal retrospectivo de recién nacidos que fueron diagnosticados de TSV en una unidad neonatal de nivel III, durante un período de 5 años, valorando los aspectos morfológicos, la sintomatología asociada y los tratamientos recibidos. Se estudió su asociación con el RGE y la repercusión de este sobre la TSV. Resultados: Dieciocho pacientes (1,2 de cada 1.000 recién nacidos) fueron diagnosticados de TSV. El 50% asociaban RGE con repercusión clínica (p = 0,01) y todos ellos recibieron tratamiento farmacológico. El tiempo medio de control de la TSV sin RGE desde el diagnóstico fue de 6 días (IC 95%: 2,16-9,84, con una mediana de 3) y de 7,6 días cuando estuvieron las 2 dolencias asociadas (IC 95%: 4,14-10,9, mediana de 7) (valor p = 0,024). Conclusiones: Los pacientes con TSV en el período neonatal tienen frecuentemente RGE, y esta asociación genera una mayor dificultad para el control de la taquicardia. El reflujo podría actuar como desencadenante o perpetuante de la arritmia, por eso es importante buscar y tratar el RGE en los recién nacidos con TSV (AU)

Introduction: Supraventricular tachycardia (SVT) is the most common arrhythmia in the neonatal period, but its association with other triggering processes is not well established. The aim of the study was to analyse the possible relationship between neonatal SVT and gastroesophageal reflux disease (GERD), a condition which was recently linked to atrial arrhythmias. Material and methods: A retrospective longitudinal descriptive study was conducted over a period of 5 years on newborns who were diagnosed with SVT in a level III neonatal unit, assessing morphological aspects, associated symptoms, and treatments received. Its association with GERD and the impact of this on SVT was studied. Results: Eighteen patients (1.2 per 1000 newborns) were diagnosed with SVT. Fifty percent of them were combined with clinically significant GERD (P=.01), and all of them received drug treatment. The average time of control of SVT without GERD since diagnosis was 6 days (95% CI: 2.16-9.84, with a median of 3) and 7.6 days when both pathologies were present (95% CI: 4.14-10.9, with a median of 7) (P=.024). Conclusions: Patients with SVT in the neonatal period frequently have GERD, and this combination leads to more difficulty in controlling the tachycardia. The reflux could act as a trigger or perpetuator of arrhythmia, therefore it is important to find and treat GERD in infants with SVT (AU)

Guía de práctica clínica para el tratamiento del síndrome de Hunter / Clinical practice guideline for the management of Hunter syndrome

El síndrome de Hunter (SH), o mucopolisacaridosis tipo ii , es una enfermedad producida por la deficiencia o ausencia de la enzima iduronato-2-sulfatasa (I2S) debida a mutaciones en el gen IDS. La deficiencia de la I2S ocasiona un bloqueo en el proceso de degradación de glucosaminoglucanos (GAG) en los lisosomas citoplasmáticos, lo que da lugar a su acumulación en las células. Esto provoca una alteración celular generalizada, y una eliminación aumentada de estos GAG en orina. El SH es una enfermedad hereditaria recesiva ligada al cromosoma X, que afecta a uno de cada 49.000-526.000 recién nacidos vivos varones. Su carácter multisistémico y progresivo hace que en algún momento de la evolución sea necesario el abordaje por distintas especialidades médicas. Recientemente se dispone de tratamiento de sustitución enzimática con I2S recombinante que mejora y ralentiza la evolución de la enfermedad, por lo que resulta clave el diagnóstico y tratamiento precoz. Por estas razones, se ha elaborado esta guía de práctica clínica (GPC), que pretende ayudar a los diferentes especialistas que están en contacto con pacientes que padecen el SH en la detección precoz, y en el seguimiento y tratamiento. La guía ha sido elaborada por un grupo de trabajo constituido por el Grupo Español de Hunter (equipo multidisciplinar formado por médicos especialistas expertos en el diagnóstico y tratamiento del SH) e investigadores con experiencia metodológica en el desarrollo de GPC. Las recomendaciones se basan en la síntesis de la evidencia científica disponible y en la experiencia de los expertos (AU)

The Hunter syndrome (HS), or mucopolysaccharidosis type II, is a disease caused by a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S) due to mutations in the IDS gene. I2S deficiency causes a block in the degradation of glycosaminoglycans (GAG) in cytoplasmic lysosomes which leads to their accumulation in cells. This causes a generalized cellular disorder and increased elimination of these GAG in urine. The HS is an inherited X-linked recessive disease, which affects one in 49,000 to 526,000 male live births. The HS progressive and multisystem involvement usually causes the need of various medical specialties for managing the disease. Recently a new enzyme replacement therapy with recombinant I2S is available, which improves and slows the disease progression. Thus, early diagnosis and treatment are key factors for managing HS. For these reasons, this clinical practice guideline (CPG) has been developed. This CPG aims to help the different specialists who manage patients with SH in the early detection, follow-up and treatment. This guide has been developed by a working group set up by the Spanish Hunter Group multidisciplinary team of physician specialists in the diagnosis and management of HS) and researchers with methodological experience in developing GPC. The recommendations are based on the synthesis of the best available scientific evidence and the experience of experts (AU)

Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias / Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

Fundamento y objetivo: Comparar los datos clínicos, bioquímicos y genéticos de dos series de pacientes con deficiencia de biotinidasa. Pacientes y métodos:Quince casos detectados en el cribado neonatal y seis en el cribado selectivo para sordera o para enfermedades metabólicas hereditarias. Resultados: Ningún caso detectado en el cribado neonatal presentaba síntomas y sólo uno con deficiencia parcial desarrolló convulsiones que cedieron con biotina. La mutación p.D444H y la doble mutación [p.D444H; p.A171T] fueron las más frecuentes en este grupo. Sin embargo, los seis pacientes diagnosticados en el cribado selectivo presentaban síntomas neurológicos y las mutaciones detectadas fueron p.L32fs, p.G34fs, p.T401I, p.D444H, p.T532M y p.L466fs. Todos los pacientes con síntomas o con deficiencia profunda de biotinidasa se trataron con dosis farmacológicas de biotina (10-30mg/día). Conclusión: La deficiencia de biotinidasa debe incluirse en los programas de cribado neonatal con el fin de tratar precozmente incluso las formas parciales. Las diferentes mutaciones identificadas en las dos series de pacientes indican que el análisis genético mediante secuenciación directa del gen BTD sería útil para el diagnóstico rápido de las formas parciales o profundas de la enfermedad (AU)

Background and objetive: To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency.Patients and method: Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease. Results: No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic seizures that resolved with biotin. More common mutations found among this group were p.D444H and the double mutation [p.D444H;p.A171T]. However, neurological and hearing manifestations predominated among the six symptomatic cases and mutations p.L32fs, p.G34fs, p.T401I, p.D444H, p.T532M and the novel one p.L466fs were identified. Patients with profound biotinidase deficiency and/or clinical signs were treated with pharmacological doses of biotin (10-30mg daily).Conclusion: Biotinidase deficiency must be included in the newborn screening programmes in order to begin early treatment even in partial forms. Different mutations found in both series of patients suggest that routine genetic procedure of the BTD gene by direct sequencing might be useful to assign patients to the partial or profound form of the disease (AU)