Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.

El peso para la longitud en pretérminos tardíos evaluados con impedancia bioélectrica se asocia a variables antropométricas / Weight for length in late preterm infants assessed with bioelectrical impedance is positively associated with anthropometric variables

Introducción: La masa grasa es mayor en lactantes pretérmino tardíos que en lactantes nacidos a término al mes de vida y esto podría ser un factor de riesgo adicional para el síndrome metabólico en la vida adulta. Objetivos: Para evaluar la composición corporal (CC) en prematuros tardíos utilizamos el análisis de impedancia bioeléctrica y buscamos determinar qué parámetro antropométrico está asociado con la CC. Nuestra hipótesis es que el peso para la longitud está asociado con el índice de masa grasa (IMG) normalizado por longitud al año de vida. Materiales y métodos: Realizamos un estudio de cohortes prospectivo con 2 grupos: prematuros tardíos y nacidos a término. Los datos de CC se midieron mediante análisis de impedancia bioeléctrica. Se calcularon la masa grasa, el IMG, la masa libre de grasa y el índice de MLG normalizado por talla a los 1, 6 y 12 meses de vida. Luego determinamos la asociación del IMG con los parámetros antropométricos mediante un análisis de regresión lineal múltiple. Resultados: Incluimos 97 prematuros tardíos y 47 nacidos a término, aunque la evaluación de CC se realizó en 66 y 33 a los 12 meses de vida. Al mes, el contenido de masa libre de grasa fue mayor en los recién nacidos prematuros tardíos (4013 frente a 3524g); a los 6 meses, tuvieron una mayor velocidad de incremento de peso (5480g versus 4604g) y a los 12 meses de vida, el contenido de masa libre de grasa y el índice de MLG de los recién nacidos prematuros tardíos fue menor que el de los recién nacidos a término (7232 versus 7813g; 12,55 versus 13.26). Según el análisis de regresión multivariable, la puntuación z del peso para la talla a los 12 meses se asoció positivamente con el IMG a los 12 meses en todos los lactantes. (AU)

Introduction: The fat mass is greater in late preterm than full term infants at 1 month post birth, which may be an additional risk factor for metabolic syndrome in adulthood. Objectives: To evaluate body composition (BC) in late preterm infants using bioelectrical impedance analysis to determine which anthropometric parameters are associated with BC. Our hypothesis was that weight-for-length is associated with the length-normalized fat mass index (FMI) at 1 year of life. Materials and methods: We carried out a prospective cohort study in 2 groups: late preterm infants and full term infants. We obtained BC data by bioelectrical impedance analysis. We calculated the fat mass, FMI, fat-free mass (FFM) and length-normalized FFM index at 1, 6 and 12 months of life. After, we assessed the association of the FMI with anthropometric parameters using multiple linear regression analysis. Results: The study included 97 late preterm and 47 full term infants, although at 12 months of life, the BC assessment was performed on 66 and 33 infants, respectively. Late preterm infants, compared to full term infants, had a higher FFM at 1 month (4013g vs. 3524g), a higher weight velocity at 6 months (5480g vs. 4604g) and a lower FFM (7232g vs. 7813g) and FFM index (12.55 vs. 13.26) at 12 months of life. The multivariate regression analysis showed that the weight-for-length z-core at 12 months was positively associated with the FMI at 12 months in all infants. (AU)

The weight for length in late preterm infants assessed with bioelectrical impedance is positively associated with anthropometric variables.

INTRODUCTION: The fat mass (FM) is greater in late preterm than full term infants at 1 month post birth, which may be an additional risk factor for metabolic syndrome in adulthood. OBJETIVES: To evaluate body composition (BC) in late preterm infants using bioelectrical impedance analysis (BIA) to determine which anthropometric parameters are associated with BC. Our hypothesis was that weight-for-length is associated with the length-normalized fat mass index (FMI) at 1 year of life. MATERIALS AND METHODS: We carried out a prospective cohort study in 2 groups: late preterm infants and full term infants. We obtained BC data by BIA. We calculated the fat mass (FM), FMI, fat-free mass (FFM) and length-normalized fat-free mass index (FFMI) at 1, 6 and 12 months of life. After, we assessed the association of the FMI with anthropometric parameters using multiple linear regression analysis. RESULTS: The study included 97 late preterm and 47 full term infants, although at 12 months of life, the BC assessment was performed on 66 and 33 infants, respectively. Late preterm infants, compared to full term infants, had a higher FFM at 1 month (4013 vs 3524 g), a higher weight velocity at 6 months (5480 g versus 4604 g) and a lower FFM (7232 vs 7813 g) and FFMI (12.55 vs 13.26) at 12 months of life. The multivariate regression analysis showed that the weight-for-length z-core at 12 months was positively associated with the FMI at 12 months in all infants. CONCLUSION: The weight-for-length z-score at 12 months is strongly associated with the FMI at 1 year of life. Further studies are needed to investigate whether an increment in this anthropometric parameter may modulate the risk of chronic diseases.

Implementation of a neonatal donation protocol in the neonatal intensive care unit: A single-center experience.

BACKGROUND: Lack of specific protocols for neonatal donation contributes to the rarity of neonatal donors. In this study, we evaluate the impact of the implementation of a neonatal donation protocol in our NICU. METHODS: In this single-center study, we conducted a retrospective chart review of neonatal deaths in our NICU from January 2013 to January 2022. The study was divided into two periods: before and after the implementation of a neonatal donation protocol. The referral rates of potential neonatal donors to the OPO in the two periods were compared using the chi-square test. A p value < .05 was considered statistically significant. RESULTS: Sixty-four infants were reviewed. Seven (10.9%) met the inclusion criteria for potential neonatal donors after DCC. The referral rate of potential neonatal donors increased from 2.5% to 16.7% after the implementation of this protocol (p = .041), and one infant (4.1%) became an effective heart-valve donor. CONCLUSION: The implementation of a local neonatal donation protocol could have contributed to increase the referral rate of potential neonatal donors in our NICU. Following the implementation of a local neonatal donation protocol, we were able to perform a heart-valve donation for the first time in our unit.

Síndrome de Stüve-Wiedemann remedando una sepsis neonatal / Stüve-Wiedemann syndrom mimicking neonatal sepsis

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Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.

Cinco pasos para la disminución de las infecciones relacionadas con la asistencia sanitaria en prematuros grandes inmaduros. Estudio cuasiexperimental / Five steps to decreasing nosocomial infections in large immature premature infants: A quasi-experimental study

Objetivos: El objetivo de este estudio fue evaluar el impacto de un conjunto de 5 intervenciones sobre la incidencia de infecciones relacionadas con la asistencia sanitaria en una unidad de Neonatología de nivel iii. Material y métodos: Estudio cuasiexperimental pre-postintervención. Se incluyó a aquellos prematuros con peso al nacimiento <1.500 g o edad gestacional <32 semanas que ingresaron en los 12 meses previos y posteriores a la implantación de las medidas (enero del 2014). Las intervenciones consistieron en optimizar la higiene de manos, protocolizar la inserción y la manipulación de catéteres intravenosos centrales, fomentar la alimentación con leche materna, implantar una política de uso racional de antibióticos y establecer un sistema de vigilancia epidemiológica de gérmenes multirresistentes. Como variable principal se analizó la densidad de incidencia de infecciones relacionadas con la asistencia sanitaria antes y después de implementar las medidas. Resultados: Fueron incluidos 33 pacientes en cada período, homogéneos en edad gestacional, peso y otras variables demográficas. Se constató una densidad de incidencia de 8,7 y 2,7 infecciones/1.000 días de estancia en los períodos pre y postintervención respectivamente (p <0,05). También se halló una disminución estadísticamente significativa en el porcentaje de días en ventilación mecánica, así como de pacientes que recibieron hemoderivados y fármacos vasoactivos. Conclusiones: Esta estrategia, basada en la puesta en marcha de 5 medidas concretas, fue efectiva en la disminución de infecciones relacionadas con la asistencia sanitaria en una unidad con tasas elevadas de dichas infecciones. Esta reducción pudo contribuir a una menor tasa de empleo de ventilación mecánica, hemoderivados y fármacos vasoactivos en el período postintervención (AU)

Objectives: An evaluation is made of the impact of a series of five interventions on the incidence of hospital-related infections in a level iii neonatal unit. Material and methods: Quasi-experimental, pre-post intervention study, which included preterm infants weighing 1,500g at birth or delivered at <32 weeks gestation, admitted in the 12 months before and after the measures were implemented (January 2014). The measures consisted of: optimising hand washing, following a protocol for insertion and handling of central intravenous catheters, encouraging breastfeeding; applying a protocol for rational antibiotic use, and establishing a surveillance system for multi-resistant bacteria. The primary endpoint was to assess the incidence of hospital-acquired infections before and after implementing the interventions. Results: Thirty-three matched patients were included in each period. There was an incidence of 8.7 and 2.7 hospital-related infections/1,000 hospital stay days in the pre- and post-intervention periods, respectively (P<.05). Additionally, patients in the treatment group showed a statistically-significant decrease in days on mechanical ventilation, use of blood products, and vasoactive drugs. Conclusions: The strategy, based on implementing five specific measures in a unit with a high rate of hospital-related infections, proved effective in reducing their incidence. This reduction could contribute to lowering the use of mechanical ventilation, blood products, and vasoactive drugs (AU)

Uso de levetiracetam en crisis convulsivas neonatales / Use of levetiracetam in neonatal seizures

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[Five steps to decreasing nosocomial infections in large immature premature infants: A quasi-experimental study]. / Cinco pasos para la disminución de las infecciones relacionadas con la asistencia sanitaria en prematuros grandes inmaduros. Estudio cuasiexperimental.

OBJECTIVES: An evaluation is made of the impact of a series of five interventions on the incidence of hospital-related infections in a level iii neonatal unit. MATERIAL AND METHODS: Quasi-experimental, pre-post intervention study, which included preterm infants weighing 1,500g at birth or delivered at <32 weeks gestation, admitted in the 12 months before and after the measures were implemented (January 2014). The measures consisted of: optimising hand washing, following a protocol for insertion and handling of central intravenous catheters, encouraging breastfeeding; applying a protocol for rational antibiotic use, and establishing a surveillance system for multi-resistant bacteria. The primary endpoint was to assess the incidence of hospital-acquired infections before and after implementing the interventions. RESULTS: Thirty-three matched patients were included in each period. There was an incidence of 8.7 and 2.7 hospital-related infections/1,000 hospital stay days in the pre- and post-intervention periods, respectively (P<.05). Additionally, patients in the treatment group showed a statistically-significant decrease in days on mechanical ventilation, use of blood products, and vasoactive drugs. CONCLUSIONS: The strategy, based on implementing five specific measures in a unit with a high rate of hospital-related infections, proved effective in reducing their incidence. This reduction could contribute to lowering the use of mechanical ventilation, blood products, and vasoactive drugs.

Complicaciones mecánicas asociadas a la localización de la punta de catéteres centrales en una unidad neonatal / Catheter tip position and risk of mechanical complications in a neonatal unit

INTRODUCCIÓN: El uso de catéteres centrales (CC) está asociado a complicaciones mecánicas (CM). Nuestro objetivo fue conocer si la posición incorrecta de la punta se asociaba con mayor incidencia de CM. Material: Estudio descriptivo de 6 años en la UCIN del Hospital Universitario Santa Lucía de Cartagena. Se recogieron los CC, la indicación, el motivo de retirada, la posición en las pruebas de imagen, las CM y el tratamiento derivado. RESULTADOS: Se estudiaron 604 CC, la mayoría (347) de vena umbilical, epicutáneos (193) y de vena femoral (34). El 14,2% tuvo CM. La posición incorrecta de la punta se asoció a mayores CM (21,1 vs. 8,2%; p < 0,001), retirada por problemas mecánicos (8,4 vs. 3,1%; p < 0,01), extravasación (4,9 vs. 1,9%; p < 0,05), derrames pleurales y pericárdicos (1,4 vs. 0,0%; p < 0,05), hematomas hepáticos (4,6 vs. 0,6%; p < 0,01) y ascitis (2,8 vs. 0,0%; p < 0,01). Los epicutáneos medioclaviculares se asociaron a mayores CM (18,5 vs. 6,8%; p < 0,05) que los localizados en posición braquiocefálica (0 vs. 6,8%; NS) respecto a las localizaciones correctas. La posición baja o en ductus del catéter venoso umbilical se asoció a mayores CM respecto a la posición correcta (24,5 vs. 6%; p < 0,001. y 27 vs. 6%; p < 0,001). La complicación más frecuente fue la salida accidental. CONCLUSIONES: Las localizaciones incorrectas de la punta de los CC se asociaron a más CM. Los epicutáneos medioclaviculares tuvieron más riesgo que los localizados en cavas o braquiocefálicos. La posición baja o en ductus del catéter venoso umbilical se asoció a mayores CM

INTRODUCTION: The use of central catheters (CC) is associated with mechanical complications (MC). OBJECTIVE: Our objetive was to determine the relationship between CC positions and associated MC in neonates. Material: A descriptive analytical study was performed over a six year period in the NICU of the University Hospital Santa Lucía de Cartagena. Details were collected on the CC used, indication, reason for withdrawal, position in the imaging, MC, and treatment arising from them, as well as epidemiological data. RESULTS: Of the total of 604 CC studied, the majority (347) were via the umbilical vein, followed by epicutaneous (193), and femoral vein (34). There were MC in 14.2% of catheters. Incorrect position of the tip was associated with greater MC (21.1 vs 8.2%; P < .001), including withdrawal due to MC (8.4 vs 3.1%; P < .01), extravasation (4.9 vs 1.9%; P < .05), pleural and pericardial effusions (1.4 vs 0.0%; P < .05), liver haematomas (4.6 vs 0.6%; P < .01), and ascites (2.8 vs 0.0%; P < .01). The midclavicular epicutaneous position of the tip was associated with greater MC (18.5 vs 6.8%; P < .05) than the brachiocephalic (0 vs 6.8%;NS). The low and ductal position of the umbilical vein catheter was also associated with higher rates of MC (24.5 vs 6%; P < .001 and 27 vs 6%; P<.001) due to the position of the tip. The most common complication was accidentally dislodged catheter. CONCLUSIONS: The incorrect location of the tip was associated with more MC. The midclavicular epicutaneous had more risk than centrally or brachiocephalic locations. The low and ductal positions of the umbilical vein catheter were associated with higher rates of MC

[Catheter tip position and risk of mechanical complications in a neonatal unit]. / Complicaciones mecánicas asociadas a la localización de la punta de catéteres centrales en una unidad neonatal.

INTRODUCTION: The use of central catheters (CC) is associated with mechanical complications (MC). OBJECTIVE: Our objetive was to determine the relationship between CC positions and associated MC in neonates. MATERIAL: A descriptive analytical study was performed over a six year period in the NICU of the University Hospital Santa Lucía de Cartagena. Details were collected on the CC used, indication, reason for withdrawal, position in the imaging, MC, and treatment arising from them, as well as epidemiological data. RESULTS: Of the total of 604 CC studied, the majority (347) were via the umbilical vein, followed by epicutaneous (193), and femoral vein (34). There were MC in 14.2% of catheters. Incorrect position of the tip was associated with greater MC (21.1 vs 8.2%; P<.001), including withdrawal due to MC (8.4 vs 3.1%; P<.01), extravasation (4.9 vs 1.9%; P<.05), pleural and pericardial effusions (1.4 vs 0.0%; P<.05), liver haematomas (4.6 vs 0.6%; P<.01), and ascites (2.8 vs 0.0%; P<.01). The midclavicular epicutaneous position of the tip was associated with greater MC (18.5 vs 6.8%; P<.05) than the brachiocephalic (0 vs 6.8%;NS). The low and ductal position of the umbilical vein catheter was also associated with higher rates of MC (24.5 vs 6%; P<.001 and 27 vs 6%; P<.001) due to the position of the tip. The most common complication was accidentally dislodged catheter. CONCLUSIONS: The incorrect location of the tip was associated with more MC. The midclavicular epicutaneous had more risk than centrally or brachiocephalic locations. The low and ductal positions of the umbilical vein catheter were associated with higher rates of MC.