[Correlation between transcutaneous bilirubinometry and serum bilirubin in newborns ≥ 35 weeks]. / Correlación entre bilirrubinometría transcutánea y bilirrubina sérica en recién nacidos ≥ 35 semanas.

Clinical control and monitoring of bilirubin in the neonatal stage are essential to avoid toxicity in the central nervous system. OBJECTIVE: to determine the correlation between transcutaneous bilirubin (TcB) and total serum bilirubin (TSB) levels in newborns ≥ 35 weeks. PATIENTS AND METHOD: observational, cross-sectional, analytical, retrospective study that included 90 neonates of gestational age ≥ 35 weeks with mucocutaneous jaundice who underwent TcB and TSB measurement simultaneously between June 1, 2022, and January 31, 2023. Both variables were compared, determining their correlation. RESULTS: the validity indicators were analyzed, obtaining 100% sensitivity and negative predictive value. The mean of TcB determinations was 14.84 mg/dl ± 2.27 and that of TSB was 13.1 mg/dl ± 2.39. The correlation obtained indicates that both variables are related, which is a direct correlation and, according to the prediction equation, there is an appropriate correlation between them. It was determined that TcB overestimated TSB in 95.56% of the determinations, and underestimated TSB in the rest (4.44%). Simultaneous measurements of TcB and TSB were different in all determinations with a mean difference of 1.72 ± 1.48. CONCLUSIONS: the non-invasive TcB method can be used as an initial screening tool for the neonatal population ≥ 35 weeks, given its adequate sensitivity and negative predictive value.

Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic.

INTRODUCTION: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at debut in children under 16 years of age in the context of the SARS-CoV-2 pandemic. MATERIAL AND METHODS: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at p<0.05. RESULTS: In 2020, 61 patients debuted at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (p<0.01). The mean pH (7.24 vs 7.30/7.30) and excess of bases (-11.9 vs -7.43/-7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11/10.6), p<0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. CONCLUSIONS: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

[Clinical and epidemiological features of SARS-CoV-2 infection in children under 16 years of age]. / Caracterización clínica y epidemiológica de la infección por SARS-CoV-2 en menores de 16 años.

INTRODUCTION: During the SARS-CoV-2 pandemic, efforts have focused on trying to identify the routes of transmis sion of the virus, characterize its symptoms and signs, and investigate the best diagnostic and thera peutic methods. There are fewer published data and series in the pediatric population than in adults. OBJECTIVE: To analyze the clinical and epidemiological characteristics in children under 16 years of age diagnosed with SARS-CoV-2. PATIENTS AND METHOD: Descriptive study carried out on children who underwent SARS-CoV-2 RNA testing due to compatible symptoms, close contact, or requiring hospitalization or surgery, in the Emergency Department of a hospital in Madrid, Spain. 30 variables were collected including epidemiological data, symptoms, and signs of infection. RESULTS: Out of 1378 patients, 12% were positive (165). There was a higher proportion of patients of North African origin in the positive group than in the negative one (p < 0.01). Of all patients, 35.6% reported close contact with a confirmed case, which was more frequent in the positive group. 75.8% of the positive patients had some symptoms, most frequently fever, runny nose, and cough, followed by digesti ve symptoms. There was one case of COVID-19 pneumonia and two patients with MIS-C, one of which had SARS-CoV-2 infection. Eight of the positive patients (4.8%) required hospitalization due to SARS-CoV-2 infection. CONCLUSION: Although SARS-CoV-2 infection is milder in the pediatric population, almost 5% will require hospitalization. No close contact was identified in a high percen tage of patients (61%). Further studies are needed at all levels of care to characterize the infection in children and adolescents.

[Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic]. / Gravedad al comienzo de la diabetes tipo 1 en niños y adolescentes durante la pandemia por la enfermedad por coronavirus-19.

Introduction: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at onset in children under 16 years of age in the context of the SARS-CoV-2 pandemic. Material and methods: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at P < .05. Results: In 2020, 61 patients were diagnosed at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% were older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (P < .01). The mean pH (7.24 vs 7.30 / 7.30) and excess of bases (-11.9 vs -7.43 / -7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11 / 10.6)%, p < 0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. Conclusions: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

Anaerobio osteomyelitis. A rare condition in children / Osteomielitis por anaerobios. Una entidad poco frecuente en pediatría

ABSTRACT Osteoarticular infections due to anaerobes are very rare in children, with the Fusobacterium genus being the most frequently isolated. The course is usually subacute and, although there are predisposing factors described, most patients do not present with them. Generally, joint fluid cultures are sterile since these microorganisms are very sensitive to contact with oxygen, so they require specific culture media. All of the above causes the diagnosis to be delayed, increasing the risk of long-term sequelae. However, the prognosis improves when treatment is started early. The case is presented of a 10-year-old patient who was admitted for 30 days due septic arthritis of the right hip caused by Fusobacterium nucleatum During the admission, he required three surgical interventions, and completed 6 weeks of effective antibiotic therapy, with a good outcome and remaining asymptomatic at the current time.

RESUMEN Las infecciones osteoarticulares por anaerobios son muy raras en los niños, siendo el género Fusobacterium el que se aisla con más frecuencia. El curso suele ser subagudo y, aunque hay factores predisponentes descritos, la mayoría de los pacientes no los presenta. Generalmente, los cultivos de liquido articular son estériles ya que estos microorganismos son muy sensibles al contacto con el oxigeno, por lo que precisan medios de cultivo específicos. Todo lo anterior hace que el diagnóstico se retrase y que el riesgo de secuelas a largo plazo aumente. Sin embargo, el pronóstico mejora cuando el tratamiento se inicia de modo precoz. Por todo ello, presentamos el caso de un paciente de 10 anos con una artritis séptica de cadera derecha por Fusobacterium nucleatum que permaneció ingresado 30 dias. Durante el ingreso precisó 3 intervenciones quirúrgicas y cumplió 6 semanas de antibioterapia efectiva, con buena evolución; permanece asintomático en el momento actual.

Ectasia piélica antenatal: signo guía para el diagnóstico familiar de una enfermedad genética / Antenatal hydronephrosis: key sign for the diagnostic of a familial genetic disease

No disponible

COVID-19: humanización en las unidades neonatales / COVID-19: Humanization in neonatal units

No disponible

Estudio colaborativo español: descripción de la práctica clínica habitual en obesidad infantil / Spanish collaborative study: Description of usual clinical practice in infant obesity

Introducción: La obesidad infantil es un problema de salud de alta prevalencia. Aunque existen guías clínicas para su manejo, la variabilidad en su abordaje clínico es un hecho. El objetivo de este estudio es describir la práctica clínica habitual en unidades de Endocrinología Pediátrica y evaluar su adecuación a la guía recomendada. Material y métodos: Se realizó un estudio observacional, transversal y descriptivo mediante encuesta a endocrinólogos infantiles de la Sociedad Española de Endocrinología Pediátrica. Las preguntas fueron formuladas en base a las recomendaciones de la «Guía de Práctica Clínica sobre la Prevención y el Tratamiento de la Obesidad Infantojuvenil» del Ministerio de Sanidad español. Resultados: Se obtuvieron 125 encuestas de todas la Comunidades Autónomas. Se observó variabilidad en el número de pacientes atendidos al mes y en la frecuencia de las visitas. El 70% de los encuestados no dispone de un nutricionista ni de psicólogo o psiquiatra al que derivar a los pacientes. En el tratamiento, las medidas dietéticas son las más empleadas; un 69% nunca ha prescrito fármacos para perder peso. De los que prescriben, el 52,6% no utilizan el consentimiento informado como paso previo a su empleo. Conclusiones: Pocos centros cumplen las recomendaciones de la Guía de Práctica Clínica sobre la Prevención y el Tratamiento de la Obesidad Infantil en un plan de calidad establecido. La práctica clínica difiere mucho entre los endocrinólogos pediátricos encuestados, sin existir protocolos unificados de actuación, y con escasa disponibilidad de recursos para el tratamiento integral que precisa esta enfermedad

Introduction: Childhood obesity is a high prevalence health problem. Although there are clinical guidelines for its management, there is variability in its clinical approach. The aim of this study is to describe the usual clinical practice in Paediatric Endocrinology Units in Spain and to evaluate if it resembles the recommended guidelines. Material and methods: An observational, cross-sectional and descriptive study was carried out by means of a questionnaire sent to paediatric endocrinologists of the Spanish Society of Paediatric Endocrinology. The questions were formulated based on the recommendations of "Clinical Practice Guidelines on the Prevention and Treatment of Childhood Obesity" issued by the Spanish Ministry of Health. Results: A total of 125 completed questionnaires were obtained from all Autonomous Communities. Variability was observed both in the number of patients attended and in the frequency of the visits. The majority (70%) of the paediatricians who responded did not have a dietitian, psychologist or psychiatrist, in their centre to share the treatment for obese children. As regards treatment, dietary advice is the most used, and 69% have never prescribed weight-loss drugs. Of those who have prescribed them, 52.6% did not use informed consent as a prior step to them being used. Conclusions: There are few centres that comply with the recommendations of the clinical practice guidelines on prevention and treatment of childhood obesity as an established quality plan. Clinical practice differs widely among the paediatric endocrinologists surveyed. There are no uniform protocols of action, and in general there is limited availability of resources for the multidisciplinary treatment required by this condition

[Spanish collaborative study: Description of usual clinical practice in infant obesity]. / Estudio colaborativo español: descripción de la práctica clínica habitual en obesidad infantil.

INTRODUCTION: Childhood obesity is a high prevalence health problem. Although there are clinical guidelines for its management, there is variability in its clinical approach. The aim of this study is to describe the usual clinical practice in Paediatric Endocrinology Units in Spain and to evaluate if it resembles the recommended guidelines. MATERIAL AND METHODS: An observational, cross-sectional and descriptive study was carried out by means of a questionnaire sent to paediatric endocrinologists of the Spanish Society of Paediatric Endocrinology. The questions were formulated based on the recommendations of "Clinical Practice Guidelines on the Prevention and Treatment of Childhood Obesity" issued by the Spanish Ministry of Health. RESULTS: A total of 125 completed questionnaires were obtained from all Autonomous Communities. Variability was observed both in the number of patients attended and in the frequency of the visits. The majority (70%) of the paediatricians who responded did not have a dietitian, psychologist or psychiatrist, in their centre to share the treatment for obese children. As regards treatment, dietary advice is the most used, and 69% have never prescribed weight-loss drugs. Of those who have prescribed them, 52.6% did not use informed consent as a prior step to them being used. CONCLUSIONS: There are few centres that comply with the recommendations of the clinical practice guidelines on prevention and treatment of childhood obesity as an established quality plan. Clinical practice differs widely among the paediatric endocrinologists surveyed. There are no uniform protocols of action, and in general there is limited availability of resources for the multidisciplinary treatment required by this condition.

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes]. / Variabilidad del fenotipo del sindrome de microdelecion 1q21.1 dentro de una misma familia: importancia de la deteccion de trastornos neuropsiquiatricos para el diagnostico de sindromes geneticos.

INTRODUCTION: 1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown. AIM: To illustrate the phenotypic variability in 1q21.1 microdeletion syndrome. CASE REPORTS: Four individuals of the same kindred harboring a 1.74-Mb deletion within 1q21.1 are included. In our patients a heterogeneous phenotype is recognized. Neuropsychiatric disorders or more specifically impulse control disorders were common to all the four cases that we present. CONCLUSIONS: 1q21.1 microdeletion syndrome is phenotypically heterogeneous even among members of the same family. Behavioral or neuropsychiatric abnormalities are frequent. Paucisymptomatic forms with individuals presenting exclusively psychiatric disorders have been identified.

TITLE: Variabilidad del fenotipo del sindrome de microdelecion 1q21.1 dentro de una misma familia: importancia de la deteccion de trastornos neuropsiquiatricos para el diagnostico de sindromes geneticos.Introduccion. El sindrome de microdelecion 1q21.1 esta causado por una delecion recurrente de aproximadamente 800 kb que incluye al menos siete genes y se asocia a un fenotipo variable. Esta variacion en el numero de copias patogenica puede aparecer de novo o ser heredada de uno de los progenitores. La presencia de trastornos psiquiatricos se ha descrito en muchos de los casos publicados, pero se desconoce su prevalencia exacta. Objetivo. Exponer la variabilidad fenotipica de los individuos que presentan una microdelecion 1q21.1. Casos clinicos. Se incluyen cuatro individuos portadores de una delecion de 1,74 Mb en 1q21.1, todos miembros de la misma familia. El estudio genetico del caso indice se llevo a cabo mediante array de hibridacion genomica comparada, y el del resto de familiares mediante hibridacion in situ fluorescente, con una sonda especifica para la region delecionada. Los individuos presentan un fenotipo heterogeneo, y es comun a todos ellos la presencia de alteraciones psiquiatricas o del comportamiento, con un claro predominio de la presencia de trastornos relacionados con las dificultades para el control de impulsos en sus diferentes subtipos. Conclusiones. El sindrome de microdelecion 1q21.1 es fenotipicamente heterogeneo, incluso entre los miembros de una misma familia. Destaca la presencia de alteraciones psiquiatricas o del comportamiento como rasgo comun en todos los pacientes que presentamos. Existen formas paucisintomaticas en las que el individuo portador de la delecion presenta exclusivamente alteraciones psiquiatricas.

Variabilidad del fenotipo del síndrome de microdeleción 1q21.1 dentro de una misma familia: importancia de la detección de trastornos neuropsiquiátricos para el diagnóstico de síndromes genéticos / Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes

Introducción. El síndrome de microdeleción 1q21.1 está causado por una deleción recurrente de aproximadamente 800 kb que incluye al menos siete genes y se asocia a un fenotipo variable. Esta variación en el número de copias patogénica puede aparecer de novo o ser heredada de uno de los progenitores. La presencia de trastornos psiquiátricos se ha descrito en muchos de los casos publicados, pero se desconoce su prevalencia exacta. Objetivo. Exponer la variabilidad fenotípica de los individuos que presentan una microdeleción 1q21.1. Casos clínicos. Se incluyen cuatro individuos portadores de una deleción de 1,74 Mb en 1q21.1, todos miembros de la misma familia. El estudio genético del caso índice se llevó a cabo mediante array de hibridación genómica comparada, y el del resto de familiares mediante hibridación in situ fluorescente, con una sonda específica para la región delecionada. Los individuos presentan un fenotipo heterogéneo, y es común a todos ellos la presencia de alteraciones psiquiátricas o del comportamiento, con un claro predominio de la presencia de trastornos relacionados con las dificultades para el control de impulsos en sus diferentes subtipos. Conclusiones. El síndrome de microdeleción 1q21.1 es fenotípicamente heterogéneo, incluso entre los miembros de una misma familia. Destaca la presencia de alteraciones psiquiátricas o del comportamiento como rasgo común en todos los pacientes que presentamos. Existen formas paucisintomáticas en las que el individuo portador de la deleción presenta exclusivamente alteraciones psiquiátricas (AU)

Introduction. 1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown. Aim. To illustrate the phenotypic variability in 1q21.1 microdeletion syndrome. Case reports. Four individuals of the same kindred harboring a 1.74-Mb deletion within 1q21.1 are included. In our patients a heterogeneous phenotype is recognized. Neuropsychiatric disorders or more specifically impulse control disorders were common to all the four cases that we present. Conclusions. 1q21.1 microdeletion syndrome is phenotypically heterogeneous even among members of the same family. Behavioral or neuropsychiatric abnormalities are frequent. Paucisymptomatic forms with individuals presenting exclusively psychiatric disorders have been identified (AU)